PHEX

X-Linked Hypophosphatemia

Introduction

The PHEX gene has 22 exons spanning ~220kb and encodes a 749 amino acid protein with homology to M13 zinc metallopeptidases (1). In various in vitro assays, the PHEX protein has been shown to cleave putative target proteins at ASARM peptide motifs, but the physiological protein targets for PHEX cleavage are not known (2, 3).

PHEX is primarily expressed in bone and teeth where it is thought to promote mineralization by indirectly regulating the expression of the phosphate regulating hormone fibroblast growth factor 23 (FGF23) (4). PHEX is also proposed to play a role in bone and tooth mineralization that is independent of FGF23/phosphate regulation, possibly through the bone matrix protein Osteopontin (5).

More than 800 disease-causing variants in the PHEX gene have been identified in XLH patients and are represented in this Locus Specific Database (6). The variants occur across the entire length of the gene and include frameshift, splice site, copy-number, nonsense and missense variants. All of the variants are predicted to lead to a loss of PHEX protein function.

Variant List

To see more information, click on the Variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Variant Type	Effect Type	Display ACMG Call	Times Observed	Phenotype	PMID	Location	Present in ClinVar

PHEX_0392	c.1303-?_1404+?del	Deletion (Exon 12)	PHEX	Deletion		Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Short stature, Tooth abscesses and/or excessive dental caries"	16636593, 32253725, 32329911, 33666701, 34141703, 9199930	Exon 12	Unknown
PHEX_0892	c.1900-?_1965+?del	Deletion (Exon 19)	PHEX	Deletion		Pathogenic	<5			Exon 19	Unknown
PHEX_0393	c.1303-?_1404+?dup	Gain (Exon 12)	PHEX	Duplication		Pathogenic	<5			Exon 12	Unknown
PHEX_0817	c.188-?_1302+?dup	Gain (Exons 3-11)	PHEX	Duplication		Pathogenic	<5			Exon 3-11	Unknown
PHEX_0911	c.2071-?_*3357+?dup	Gain (Exons 21-22)	PHEX	Duplication		Uncertain Significance	<5			Exon 21-22	Unknown
PHEX_0552	c.1701-?_1899+?del	Deletion (Exons 17-18)	PHEX	Copy Number Loss		Pathogenic	<5		32329911	Exon 17-18	Unknown
PHEX_0205	c.664-?_732+?del	Deletion (Exon 6)	PHEX	Deletion		Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Null, Reduced_serum_phosphate, Short stature	16636593, 9199930, 9768674	Exon 6	Unknown
PHEX_0643	c.1900-?_2070+?del	Deletion (Exons 19-20)	PHEX	Copy Number Loss		Pathogenic	<5		34141703	Exon 19-20	Unknown
PHEX_0814	c.-562-?_1586+?del	Deletion (Exons 1-14)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 1-14	Unknown
PHEX_0118	c.350-?_*3357+?del	Deletion (Exons 4-22)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 4-22	Unknown
PHEX_1253	c.664-?_1404+?dup	Gain (Exons 6-12)	PHEX	Duplication		Likely Pathogenic	<5			Exon 6-12	Unknown
PHEX_1119	c.664-?_732+?dup	Gain (Exon 6)	PHEX	Duplication		Uncertain Significance	<5			Exon 6	Unknown
PHEX_0122	c.350-?_663+?del	Deletion (Exons 4-5)	PHEX	Copy Number Loss		Pathogenic	5-10	Null, Reduced_serum_phosphate	16636593, 9199930	Exon 4-5	Unknown
PHEX_0485	c.1587-?_2070+?del	Deletion (Exons 15-20)	PHEX	Copy Number Loss		Pathogenic	<5		34141703	Exon 15-20	Unknown
PHEX_0487	c.1587-?_?-1645del	Partial Deletion (Exon 15)	PHEX	Deletion		Likely Pathogenic	<5			Exon 15	Unknown
PHEX_0042	c.119-?_*3357+?dup	Gain (Exons 2-22)	PHEX			Uncertain Significance	<5				Unknown
PHEX_0861	c.1405-?_?-1482del	Deletion (Exon 13)	PHEX	Deletion		Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries"		Exon 13	Unknown
PHEX_1116	c.134_135ins?	p.Leu45fs	PHEX	Insertion		Pathogenic	<5			Exon 2	Unknown
PHEX_0549	c.1701-?_*3357+?del	Deletion (Exons 17-22)	PHEX	Copy Number Loss		Pathogenic	5-10	Gingivitis, Hearing abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Skull deformities	16636593, 32329911, 33295632, 9199930	Exon 17-22	Unknown
PHEX_0258	c.850-?_933+?del	Deletion (Exon 8)	PHEX	Deletion		Likely Pathogenic	<5			Exon 8	Unknown
PHEX_0389	c.1303-?_2070+?dup	Gain (Exons 12-20)	PHEX	Duplication		Uncertain Significance	<5			Exon 12-20	Unknown
PHEX_0455	c.1483-?_1586+?del	Deletion (Exon 14)	PHEX	Deletion		Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Deformation of chest, Fractures/pseudo-fractures, Gait abnormalities, Hearing abnormalities, Lower limb deformities, Short stature"	33295632	Exon 14	Unknown
PHEX_0327	c.1080-?_1173+?del	Deletion (Exon 10)	PHEX	Deletion		Pathogenic	<5			Exon 10-11	Unknown
PHEX_0434	c.1405-?_2070+?dup	Gain (Exons 13-20)	PHEX	Duplication		Likely Pathogenic	<5			Exon 13-20	Unknown
PHEX_0456	c.1483-?_1645+?del	Deletion (Exons 14-15)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 14-15	Unknown
PHEX_0004	c.-562-?_349+?del	Deletion (Exons 1-3)	PHEX	Copy Number Loss		Pathogenic	11-20	"Bone and/or joint pain and/or joint stiffness, Functional impairment, Lower limb deformities, Null, Short stature, Thyroid, Tooth abscesses and/or excessive dental caries"	11502829, 16636593, 19581284, 22577109, 33666701, 34141703	Exon 1-3	Unknown
PHEX_0395	c.1303-?_1482+?dup	Gain (Exons 12-13)	PHEX	Duplication		Uncertain Significance	<5			Exon 12-13	Unknown
PHEX_1173	c.1405-?_?-1645dup	Gain (Exons 13-15)	PHEX	Duplication		Pathogenic	<5			Exon 13-15	Unknown
PHEX_0281	c.934-?_1079+?del	Deletion (Exon 9)	PHEX	Deletion		UNKNOWN	<5		9199930	Exon 9	Unknown
PHEX_0065	c.188-?_349+?dup	Gain (Exon 3)	PHEX	Duplication		UNKNOWN	<5		21902834	Exon 3	Unknown
PHEX_0569	c.?	p.Gly579Arg	PHEX	SNV	Missense	Pathogenic	5-10	Null	10874297, 12111239, 15470265, 18046499, 21604088, 23813354, 25894638, 30682568	Exon 17	Unknown
PHEX_1135	c.?	Complex Rearrangement (Intron 12 - Exon 13)	PHEX			Likely Pathogenic	<5				Unknown
PHEX_0547	c.1701-?_2070+?del	Deletion (Exons 17-20)	PHEX	Copy Number Loss		Pathogenic	<5		21902834, 23079138, 24926462	Exon 17-20	Unknown
PHEX_0222	c.733-?_849+?del	Deletion (Exon 7)	PHEX	Deletion		Likely Pathogenic	<5			Exon 7	Unknown
PHEX_1164	c.1303-?_?-1404del	Partial Deletion (Exon 12)	PHEX	Deletion		Pathogenic	<5			Exon 12	Unknown
PHEX_1198	c.1769-?_?-2070del	Deletion (Exons 18-20)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 18-20	Unknown
PHEX_0325	c.1080-?_1302+?del	Deletion (Exons 10-11)	PHEX	Copy Number Loss		Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Reduced_tmp/gfr_(	16636593, 32253725	Exon 10-11	Unknown
PHEX_0762	c.2148-?_*3357+?del	Deletion (Exon 22)	PHEX	Deletion		Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries"		Exon 22	Unknown
PHEX_0863	c.1405-?_?-1482del	Partial Deletion (Exon 13)	PHEX	Deletion		Likely Pathogenic	<5			Exon 13	Unknown
PHEX_1150	c.1-?_?-1302del	Deletion (Exons 1-11)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 1-11	Unknown
PHEX_0436	c.1405-?_*3357+?del	Deletion (Exons 13-22)	PHEX	Copy Number Loss		Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	21902834, 23079138, 24926462	Exon 13-22	Unknown
PHEX_0512	c.1646-?_*3357+?del	Deletion (Exons 16-22)	PHEX	Copy Number Loss		Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Kidney disease, Lower limb deformities, Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	21902834, 22695891, 23079138, 24926462, 34141703	Exon 16-22	Unknown
PHEX_1254	c.664-?_1482+?dup	Gain (Exons 6-13)	PHEX	Duplication		Uncertain Significance	<5			Exon 6-13	Unknown
PHEX_1117	c.350-?_933+?dup	Gain (Exons 4-8)	PHEX	Duplication		Pathogenic	<5			Exon 4-8	Unknown
PHEX_0006	c.-562-?_187+?del	Deletion (Exons 1-2)	PHEX	Copy Number Loss		Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	34141703	Exon 1-22	Unknown
PHEX_0262	c.850-?_1079+?del	Deletion (Exons 8-9)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 8-9	Unknown
PHEX_0064	c.188-?_349+?del	Deletion (Exon 3)	PHEX	Deletion		Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature"	21902834, 23079138, 24926462	Exon 3	Unknown
PHEX_0070	c.188-?_1404+?dup	Gain (Exons 3-12)	PHEX	Duplication		Pathogenic	<5			Exon 3-12	Unknown
PHEX_0486	c.1587-?_1645+?del	Deletion (Exon 15)	PHEX	Deletion		Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	32253725	Exon 15	Unknown
PHEX_0007	c.-562-?_663+?del	Deletion (Exons 1-5)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 1-5	Unknown
PHEX_1224	c.200_201ins?	p.Leu67fs	PHEX			Pathogenic	<5			Exon 3	Unknown
PHEX_1258	c.733-?_?-849del	Partial Deletion (Exon 7)	PHEX	Deletion		Pathogenic	<5			Exon 7	Unknown
PHEX_0507	c.1646-?_2070+?del	Deletion (Exons 16-20)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 16-20	Unknown
PHEX_0119	c.350-?_732+?del	Deletion (Exons 4-6)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 4-6	Unknown
PHEX_0725	c.2071-?_2147+?del	Deletion (Exon 21)	PHEX	Deletion		Pathogenic	<5			Exon 21	Unknown
PHEX_0003	c.-562-?_1645+?del	Deletion (Exons 1-15)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 1-15	Unknown
PHEX_1174	c.1405-?_2070+?del	Deletion (Exons 13-20)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 13-20	Unknown
PHEX_0839	c.733-?_1079+?del	Deletion (Exons 7-9)	PHEX			Pathogenic	<5				Unknown
PHEX_1132	c.?	p.Cys406Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		30682568	Exon 11	Unknown
PHEX_0641	c.1900-?_*3357+?del	Deletion (Exons 19-22)	PHEX	Copy Number Loss		Pathogenic	<5		16636593, 9199930	Exon 19-22	Unknown
PHEX_1142	c.?	Complex Variant (Exons 1-14)	PHEX			Pathogenic	<5				Unknown
PHEX_0815	c.-562-?_1079+?del	Deletion (Exons 1-9)	PHEX	Copy Number Loss		Pathogenic	<5		19513579	Exon 1-9	Unknown
PHEX_0127	c.350-?_436+?del	Deletion (Exon 4)	PHEX	Deletion		Pathogenic	<5		32253725	Exon 4	Unknown
PHEX_0207	c.664-?_1079+?del	Deletion (Exons 6-9)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 6-9	Unknown
PHEX_0590	c.1769-?_2070+?dup	Gain (Exons 18-20)	PHEX	Duplication		Likely Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Short stature		Exon 18-20	Unknown
PHEX_0015	c.-562-?_*3357+?del	Deletion (Exons 1-22)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 1-22	Unknown
PHEX_1127	c.1769-?_1899+?del	Deletion (Exon 18)	PHEX	Deletion		Pathogenic	<5			Exon 18	Unknown
PHEX_0720	c.2071-?_*3357+?del	Deletion (Exons 21-22)	PHEX	Copy Number Loss		Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	32253725, 34141703	Exon 21-22	Unknown
PHEX_1115	c.-562-?_1404+?del	Deletion (Exons 1-12)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 1-12	Unknown
PHEX_1124	c.1303-?_1645+?dup	Gain (Exons 12-15)	PHEX	Duplication		Pathogenic	<5			Exon 12-15	Unknown
PHEX_1126	c.1646-?_1899+?del	Deletion (Exons 16-18)	PHEX	Copy Number Loss		UNKNOWN	<5		32253725	Exon 16-18	Unknown
PHEX_0838	c.733-?_1302+?del	Deletion (Exons 7-11)	PHEX	Copy Number Loss		UNKNOWN	<5		32329911	Exon 7-11	Unknown
PHEX_1143	c.?	p.Met300del	PHEX			Uncertain Significance	<5		33639975		Unknown
PHEX_0837	c.733-?_933+?del	Deletion (Exons 7-8)	PHEX	Copy Number Loss		UNKNOWN	<5		27884786	Exon 7-8	Unknown
PHEX_0001	c.-562-?_118+?del	Deletion (Exon 1)	PHEX	Deletion		Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	21994957, 32253725	Exon 1	Unknown
PHEX_0039	c.119-?_187+?del	Deletion (Exon 2)	PHEX	Deletion		Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	32329911, 34141703	Exon 2	Unknown
PHEX_1131	c.?	p.Trp314Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		22161748	Exon 9	Unknown
PHEX_0521	c.1646-?_1768+?del	Deletion (Exons 16-17)	PHEX	Copy Number Loss		UNKNOWN	<5		16636593, 9768674	Exon 16-17	Unknown
PHEX_1140	c.?	p.Ser711Arg	PHEX	SNV	Missense	Pathogenic	<5		11502829	Exon 21	Unknown
PHEX_0287	c.?	p.Trp314*	PHEX	SNV	Nonsense	Pathogenic	<5		11502829	Exon 9	Unknown
PHEX_1130	c.?	p.Met253Ile	PHEX	SNV	Missense	Likely Pathogenic	<5		11502829, 9106524	Exon 7	Unknown
PHEX_1133	c.?	p.Tyr426*	PHEX	SNV	Nonsense	Pathogenic	<5		11502829	Exon 11	Unknown
PHEX_1118	c.350-?_1079+?dup	Gain (Exons 4-9)	PHEX	Duplication		Likely Pathogenic	<5			Exon 4-9	Unknown
PHEX_0360	c.1174-?_1302+?del	Deletion (Exon 11)	PHEX	Deletion		Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Reduced_tmp/gfr_(		Exon 11	Unknown
PHEX_1141	c.?	p.Trp749Arg	PHEX	SNV	Missense	Pathogenic	<5		10439971, 12001226, 21604088	Exon 22	Unknown
PHEX_1122	c.1052_1053ins?	p.Phe351fs	PHEX			Pathogenic	<5			Exon 9	Unknown
PHEX_0124	c.350-?_1404+?del	Deletion (Exons 4-12)	PHEX	Copy Number Loss		Pathogenic	<5		32253725	Exon 4-12	Unknown
PHEX_0635	c.?	p.Trp627*	PHEX	SNV	Nonsense	Pathogenic	<5		19242361, 27221261	Exon 18	Unknown
PHEX_0899	c.1966-?_2070+?del	Deletion (Exon 20)	PHEX	Deletion		Pathogenic	<5			Exon 20	Unknown
PHEX_0437	c.1405-?_1645+?dup	Gain (Exons 13-15)	PHEX	Duplication		Pathogenic	30+	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Reduced_tmp/gfr_(		Exon 13-15	Unknown
PHEX_0394	c.1303-?_?-1899del	Deletion (Exons 12-18)	PHEX	Copy Number Loss		Uncertain Significance	<5			Exon 12-18	Unknown
PHEX_0206	c.664-?_?-933del	Deletion (Exons 6-8)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 6-8	Unknown
PHEX_0162	c.437-?_?-1404del	Deletion (Exons 5-12)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 5-12	Unknown
PHEX_0128	c.350-?_1899+?del	Deletion (Exons 4-18)	PHEX	Copy Number Loss		UNKNOWN	<5		22695891	Exon 4-18	Unknown
PHEX_0280	c.934-?_?-2250del	Deletion (Exons 9-22)	PHEX	Copy Number Loss		Pathogenic	<5			Exon 9-22	Unknown
PHEX_1120	c.664-?_849+?del	Deletion (Exons 6-7)	PHEX	Copy Number Loss		UNKNOWN	<5		33666701	Exon 6-7	Unknown
PHEX_1155	c.1080-72C>T	Intronic	PHEX			Uncertain Significance	<5		35911830	Intron 9	Unknown
PHEX_0516	c.1646-?_2070+?dup	Gain (Exons 16-20)	PHEX	Duplication		UNKNOWN	<5		22695891	Exon 16-20	Unknown
PHEX_1123	c.1080-?_1404+?del	Deletion (Exons 10-12)	PHEX	Copy Number Loss		UNKNOWN	<5		34141703	Exon 10-12	Unknown
PHEX_1121	c.664-?_1302+?del	Deletion (Exons 6-11)	PHEX	Copy Number Loss		UNKNOWN	<5		34141703	Exon 6-11	Unknown
PHEX_0422	c.?	p.Trp456Cys	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Null, Short stature	10439971, 12001226, 22101457	Exon 12	Unknown
PHEX_0351	c.?	p.Trp386*	PHEX	SNV	Nonsense	Pathogenic	<5		22101457	Exon 10	Unknown
PHEX_0440	c.1405-?_1645+?del	Deletion (Exons 13-15)	PHEX	Copy Number Loss		UNKNOWN	<5		21902834, 23079138, 24926462	Exon 13-15	Unknown
PHEX_0822	c.350-?_2070+?del	Deletion (Exons 4-20)	PHEX	Copy Number Loss		UNKNOWN	<5		19513579	Exon 4-20	Unknown
PHEX_1125	c.1587-?_*3357+?del	Deletion (Exons 15-22)	PHEX	Copy Number Loss		UNKNOWN	<5		34141703	Exon 15-22	Unknown
PHEX_0508	c.1646-?_1700+?del	Deletion (Exon 16)	PHEX	Deletion		Pathogenic	11-20	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Kidney disease, Lower limb deformities, Null, Short stature, Thyroid	29460029, 31474501, 34141703	Exon 16	Unknown
PHEX_0008	c.-430A>G	p.?	PHEX	SNV	Non-coding	Uncertain Significance	<5		9768674	5' UTR	No
PHEX_0009	c.-92G>A	p.?	PHEX	SNV	Non-coding	Uncertain Significance	<5		9768674	5' UTR	No
PHEX_0010	c.-33C>T	p.?	PHEX	SNV	Non-coding	Benign	<5		19219621, 9768674	5' UTR	Yes
PHEX_0013	c.-29_118+534del	Deletion (Exon 1)	PHEX	Copy Number Loss	Deletion	UNKNOWN	<5			Exon 1, Intron 1	No
PHEX_0011	c.-14_8delinsTGGGAGCAGCGTGG	p.?	PHEX	Delins	Initiator codon	Pathogenic	<5		22695891	5' UTR	No
PHEX_1222	c.1A>T	p.Met1?	PHEX	SNV	Initiator codon	Pathogenic	<5			Exon 1	Yes
PHEX_0016	c.1A>G	p.Met1?	PHEX	SNV	Initiator codon	Uncertain Significance	<5		21994957, 30682568	Exon 1	No
PHEX_0014	c.-562-?_1173+?del	Deletion (Exons 1-10)	PHEX	Copy Number Loss	Deletion	Pathogenic	<5				No
PHEX_0017	c.2T>C	p.Met1?	PHEX	SNV	Initiator codon	Pathogenic	<5			Exon 1	Yes
PHEX_0018	c.4G>T	p.Glu2*	PHEX	SNV	Nonsense	Pathogenic	<5		26051471	Exon 1	No
PHEX_0019	c.10G>C	p.Glu4Gln	PHEX	SNV	Missense	Uncertain Significance	<5		16636593, 31180159, 34141703	Exon 1	Yes
PHEX_0020	c.15_16del	p.Gly6Glufs*44	PHEX	Deletion	Frameshift	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature	22577109	Exon 1	Yes
PHEX_0021	c.17_18del	p.Gly6Glufs*44	PHEX	Deletion	Frameshift	Pathogenic	<5		11502829, 16636593	Exon 1	No
PHEX_0022	c.20_21insAG	p.Ser7Argfs*24	PHEX	Duplication	Frameshift	Pathogenic	<5		19219621	Exon 1	No
PHEX_1223	c.20_21del	p.Ser7Lys*43	PHEX	Deletion	Frameshift	Pathogenic	<5		35384411	Exon 1	Yes
PHEX_0023	c.24C>T	p.Ser8=	PHEX	SNV	Silent	Likely Benign	<5		11502829	Exon 1	No
PHEX_0024	c.27_28insA	p.Glu10Argfs*41	PHEX	Insertion	Frameshift	Pathogenic	<5			Exon 1	Yes
PHEX_0025	c.30_36del	p.Thr11Argfs*19	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 1	Yes
PHEX_0026	c.49A>T	p.Arg17*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 1	Yes
PHEX_0982	c.51_52dup	p.Gly18Glufs*15	PHEX	Duplication	Frameshift	Pathogenic	<5		32253725	Exon 1	No
PHEX_0027	c.58C>T	p.Arg20*	PHEX	SNV	Nonsense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Low blood phosphorus, Lower limb deformities, Null, Other musculoskeletal abnormalities, Pes planus, Severe genu varus, Short stature, Skull deformities"	10439971, 10874297, 11502829, 15057978, 16055933, 16636593, 18162710, 20157195, 21050253, 23079138, 24857004, 24926462, 25894638, 30599486, 34141703, 36692815, 36707240, 9097956, 9199930	Exon 1	Yes
PHEX_0028	c.64G>T	p.Ala22Ser	PHEX	SNV	Missense	Uncertain Significance	<5		18162710, 23079138, 24926462, 30599486	Exon 1	Yes
PHEX_0029	c.67_74del	p.Leu23Valfs*25	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 1	Yes
PHEX_0030	c.68del	p.Leu23Argfs*9	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 1	Yes
PHEX_0032	c.77_78del	p.Phe26Cysfs*24	PHEX	Deletion	Frameshift	Pathogenic	5-10	Abnormal bone development, Null, Short stature	21902834, 30607568, 33639975	Exon 1	No
PHEX_0033	c.82G>A	p.Gly28Ser	PHEX	SNV	Missense	Likely Benign	<5		19513579	Exon 1	Yes
PHEX_0034	c.83del	p.Gly28Valfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 1	Yes
PHEX_0035	c.117del	p.Val40*	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 1	No
PHEX_0038	c.118+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 1	Yes
PHEX_0037	c.118+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Lower limb deformities, Multiple femur, radius and ulna deformaties, Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	15057978, 16636593, 25031893, 34141703, 36672821	Intron 1	Yes
PHEX_0816	c.118+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		33639975	Intron 1	No
PHEX_0036	c.118+2del	Intronic	PHEX	Deletion	Splice donor	Likely Pathogenic	<5			Intron 1	Yes
PHEX_1160	c.118+7G>T	Intronic	PHEX	SNV	Splice region	Likely Benign	<5		35738466	Intron 1	Yes
PHEX_0983	c.118+951C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		19581284	Intron 1	No
PHEX_0984	c.118+2130T>A	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		19581284	Intron 1	No
PHEX_0985	c.119-455C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		22666411	Intron 1	No
PHEX_0041	c.119-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		16636593, 7550339	Intron 1	Yes
PHEX_0043	c.119-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		16636593, 7550339	Intron 1	Yes
PHEX_0044	c.124del	p.Gln42Lysfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 2	Yes
PHEX_0045	c.133_134del	p.Leu45Lysfs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		23813354	Exon 2	No
PHEX_0047	c.134T>A	p.Leu45*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 2	Yes
PHEX_0046	c.134T>G	p.Leu45*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 2	Yes
PHEX_0048	c.142C>T	p.Gln48*	PHEX	SNV	Nonsense	Pathogenic	<5		19219621, 25839938	Exon 2	Yes
PHEX_0049	c.148A>T	p.Lys50*	PHEX	SNV	Nonsense	Pathogenic	<5		22527485, 25839938	Exon 2	No
PHEX_0050	c.151C>T	p.Gln51*	PHEX	SNV	Nonsense	Pathogenic	11-20	Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	11502829, 16636593, 25839938, 31485552, 9097956	Exon 2	Yes
PHEX_0051	c.154G>T	p.Glu52*	PHEX	SNV	Nonsense	Pathogenic	<5		28383812	Exon 2	Yes
PHEX_0052	c.159C>A	p.Tyr53*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 2	No
PHEX_0986	c.160del	p.Cys54Alafs*2	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 2	No
PHEX_0987	c.161dup	p.Cys54Trpfs*16	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 2	Yes
PHEX_0053	c.162C>A	p.Cys54*	PHEX	SNV	Nonsense	Pathogenic	<5		30682568	Exon 2	No
PHEX_0054	c.166A>T	p.Lys56*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 2	No
PHEX_1194	c.171del	p.Glu58Asnfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 2	Yes
PHEX_0055	c.174del	p.Glu58Aspfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5		32329911	Exon 2	No
PHEX_0056	c.176G>C	p.Cys59Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		19513579	Exon 2	Yes
PHEX_0057	c.177C>A	p.Cys59*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 2	Yes
PHEX_0058	c.179_436del	p.Ile60_Glu145del	PHEX	Copy Number Loss	Deletion	Likely Pathogenic	<5		16636593	Exon 2-4	No
PHEX_0059	c.181G>T	p.Glu61*	PHEX	SNV	Nonsense	Pathogenic	<5		21994957	Exon 2	Yes
PHEX_0060	c.185C>T	p.Ala62Val	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 2	Yes
PHEX_0061	c.187del	p.Ala63Leufs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		22577109	Exon 2	Yes
PHEX_0063	c.187+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		10439971, 16636593, 29505567	Intron 2	Yes
PHEX_0988	c.187+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		34141703	Intron 2	Yes
PHEX_1207	c.187+1_187+4del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		36060934	Intron 2	Yes
PHEX_0062	c.187+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 2	Yes
PHEX_0989	c.187+3_187+6del	Intronic	PHEX	Deletion	Splice region	Uncertain Significance	<5			Intron 2	Yes
PHEX_0990	c.187+354C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		19581284	Intron 2	No
PHEX_0991	c.187+416G>A	Intronic	PHEX	SNV	Intronic	Benign	<5		19581284	Intron 2	No
PHEX_0992	c.187+491G>A	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		19581284	Intron 2	No
PHEX_0993	c.188-3779C>G	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		19581284	Intron 2	No
PHEX_0994	c.188-3425G>A	Intronic	PHEX	SNV	Intronic	Benign	<5		19581284	Intron 2	No
PHEX_0995	c.188-3319T>C	Intronic	PHEX	SNV	Intronic	Benign	<5		19581284	Intron 2	No
PHEX_0069	c.188-47C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		19219621	Intron 2	Yes
PHEX_0067	c.188-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 2	Yes
PHEX_0066	c.188-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		11502829	Intron 2	Yes
PHEX_0071	c.200T>G	p.Leu67*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593	Exon 3	No
PHEX_0996	c.202dup	p.Ser68Lysfs*2	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0073	c.201_202dup	p.Ser68Lysfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0074	c.204del	p.Ser68Argfs*3	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0075	c.204dup	p.Lys69*	PHEX	Duplication	Frameshift	Pathogenic	<5		30607568, 33639975	Exon 3	No
PHEX_1228	c.206_210del	p.Val70Serfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		34333162	Exon 3	No
PHEX_0076	c.208_212del	p.Val70Serfs*7	PHEX	Deletion	Frameshift	Pathogenic	11-20	Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Short stature	15057978, 16636593, 26377240, 30607568, 32253725, 33639975, 9097956	Exon 3	Yes
PHEX_0078	c.212A>T	p.Asn71Ile	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Null, Short stature, Tooth abscesses and/or excessive dental caries	21902834, 30607568, 33639975	Exon 3	No
PHEX_0077	c.212A>C	p.Asn71Thr	PHEX	SNV	Missense	Likely Pathogenic	<5		21050253	Exon 3	No
PHEX_0080	c.218_221del	p.Ser73Trpfs*16	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 3	No
PHEX_1102	c.221del	p.Val74Glyfs*16	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 3	No
PHEX_0082	c.221_222del	p.Val74Glyfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5		22577109	Exon 3	Yes
PHEX_0997	c.227_240del	p.Pro76Leufs*6	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0998	c.229T>C	p.Cys77Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		27840894, 34141703	Exon 3	No
PHEX_0084	c.229T>A	p.Cys77Ser	PHEX	SNV	Missense	Pathogenic	<5		26051471, 35738466	Exon 3	Yes
PHEX_0087	c.230G>T	p.Cys77Phe	PHEX	SNV	Missense	Pathogenic	<5			Exon 3	Yes
PHEX_0085	c.230G>C	p.Cys77Ser	PHEX	SNV	Missense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Hearing abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	10874297, 12001226, 16636593, 19219621, 32253725, 9097956	Exon 3	Yes
PHEX_0086	c.230G>A	p.Cys77Tyr	PHEX	SNV	Missense	Pathogenic	5-10	Lower limb deformities, Short stature	32329911	Exon 3	Yes
PHEX_0088	c.231T>G	p.Cys77Trp	PHEX	SNV	Missense	Likely Pathogenic	<5		30682568	Exon 3	No
PHEX_0083	c.227_238dup	p.Asn79_Phe80insSerCysAspAsn	PHEX	Duplication	Insertion	Pathogenic	<5			Exon 3	No
PHEX_0089	c.239T>C	p.Phe80Ser	PHEX	SNV	Missense	Pathogenic	<5		12001226, 17710565	Exon 3	Yes
PHEX_0091	c.241T>C	p.Phe81Leu	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 3	Yes
PHEX_0092	c.242T>C	p.Phe81Ser	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Null	10439971, 16636593, 17710565, 23079138, 24926462	Exon 3	No
PHEX_0093	c.250G>C	p.Ala84Pro	PHEX	SNV	Missense	Uncertain Significance	<5		36672821	Exon 3	Yes
PHEX_0094	c.251C>A	p.Ala84Asp	PHEX	SNV	Missense	Likely Pathogenic	<5		25042154	Exon 3	Yes
PHEX_0095	c.253T>C	p.Cys85Arg	PHEX	SNV	Missense	Pathogenic	11-20	Null	10874297, 11468271, 12001226, 12111239, 12727977, 14992683, 15470265, 16636593, 17710565, 18046499, 19513579, 25894638, 9199930	Exon 3	Yes
PHEX_0098	c.254G>C	p.Cys85Ser	PHEX	SNV	Missense	Pathogenic	<5		30682568, 32329911	Exon 3	Yes
PHEX_0096	c.254G>A	p.Cys85Tyr	PHEX	SNV	Missense	Pathogenic	5-10	Lower limb deformities, Null	10874297, 11502829, 12001226, 16636593, 30682568, 9106524	Exon 3	Yes
PHEX_0097	c.254G>T	p.Cys85Phe	PHEX	SNV	Missense	Likely Pathogenic	<5		10874297, 12001226, 16636593, 19219621	Exon 3	Yes
PHEX_0999	c.255T>A	p.Cys85*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 3	Yes
PHEX_0099	c.263G>A	p.Trp88*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 3	Yes
PHEX_0100	c.264del	p.Trp88*	PHEX	Deletion	Frameshift	Pathogenic	5-10	Null	18046499, 21293852, 23813354, 24857004	Exon 3	No
PHEX_1240	c.264G>A	p.Trp88*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 3	Yes
PHEX_0101	c.275_280delinsT	p.Asn92Ilefs*17	PHEX	Delins	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0102	c.288A>G	p.Glu96=	PHEX	SNV	Silent	Likely Benign	<5		18625346	Exon 3	Yes
PHEX_0103	c.288del	p.Asp97Ilefs*11	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 3	No
PHEX_0104	c.289_349+836delinsAAGATATGCCT	Intronic	PHEX	Delins	Splice donor	Likely Pathogenic	<5			Exon 3, Intron 3	Yes
PHEX_0105	c.294_295insAAGAG	p.Pro99Lysfs*11	PHEX	Insertion	Frameshift	Pathogenic	<5		19219621	Exon 3	No
PHEX_1000	c.304G>T	p.Gly102Trp	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 3	Yes
PHEX_0106	c.304G>A	p.Gly102Arg	PHEX	SNV	Missense	Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Genu varum, Lower limb deformities, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	27840894, 29901142, 34141703	Exon 3	Yes
PHEX_0107	c.307del	p.Val103Phefs*5	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0818	c.310del	p.Tyr104Ilefs*4	PHEX	Deletion	Frameshift	Pathogenic	<5		32329911	Exon 3	No
PHEX_1001	c.316del	p.Trp106Glyfs*2	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 3	Yes
PHEX_0108	c.318G>A	p.Trp106*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 3	Yes
PHEX_0819	c.325_326dup	p.Asn110Ilefs*7	PHEX	Duplication	Frameshift	Pathogenic	<5		33295632	Exon 3	No
PHEX_0109	c.327del	p.His109Glnfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 9768674	Exon 3	No
PHEX_0079	c.328_330del	p.Asn110del	PHEX	Deletion	Deletion	Uncertain Significance	<5		18625346, 20157195	Exon 3	Yes
PHEX_0111	c.329_330insC	p.Val111Cysfs*2	PHEX	Insertion	Frameshift	Pathogenic	<5		9768674	Exon 3	No
PHEX_0112	c.332_334del	p.Val111del	PHEX	Deletion	Deletion	Likely Pathogenic	<5			Exon 3	Yes
PHEX_0820	c.349+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		16636593, 35384411	Intron 3	Yes
PHEX_0114	c.349+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 3	Yes
PHEX_0821	c.349+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 3	Yes
PHEX_0116	c.349+2T>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		19219621, 34141703	Intron 3	Yes
PHEX_0115	c.349+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5			Intron 3	Yes
PHEX_1002	c.350-14216G>A	Intronic	PHEX	SNV	Intronic	Benign	<5		21618345	Intron 3	No
PHEX_1241	c.350-14_356del	Intronic	PHEX	Deletion	Splice acceptor	Uncertain Significance	<5		36060934	Exon 4, Intron 3	No
PHEX_0126	c.350-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		26051471, 29460029	Intron 3	Yes
PHEX_0120	c.350-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		22577109	Intron 3	Yes
PHEX_1003	c.350-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 3	Yes
PHEX_0125	c.350-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		19219621, 22101457, 29460029	Intron 3	No
PHEX_0129	c.361A>T	p.Lys121*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 4	Yes
PHEX_1242	c.367del	p.Ile123Serfs*21	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 4	Yes
PHEX_0113	c.388G>T	p.Glu130*	PHEX	SNV	Nonsense	Pathogenic	<5		30075510	Exon 4	No
PHEX_0131	c.397C>T	p.Gln133*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Nervous system, Null, Reduced_serum_phosphate, Shallow respiration, Short stature, Tooth abscesses and/or excessive dental caries"	18057152, 21050253	Exon 4	Yes
PHEX_0130	c.395_398dup	p.Gln133Hisfs*14	PHEX	Duplication	Frameshift	Pathogenic	<5		21902834, 23079138, 24926462	Exon 4	No
PHEX_0132	c.401_402insGCCAAA	p.Lys134_Ala135insProLys	PHEX	Insertion	Insertion	Likely Pathogenic	<5		28383812	Exon 4	No
PHEX_1004	c.402del	p.Ala135Profs*9	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 4	No
PHEX_0133	c.404C>A	p.Ala135Asp	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 4	Yes
PHEX_0823	c.409dup	p.Ile137Asnfs*9	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 4	Yes
PHEX_1103	c.411_414del	p.Leu138Ilefs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 4	No
PHEX_1243	c.411_417del	p.Leu138Hisfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 4	Yes
PHEX_0134	c.412del	p.Leu138Phefs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		15057978, 16636593, 24229582, 24857004	Exon 4	No
PHEX_0135	c.413T>C	p.Leu138Pro	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Tooth abscesses and/or excessive dental caries	10439971, 10874297, 16636593, 19219621, 23079138, 24926462, 27884786, 9097956	Exon 4	No
PHEX_0136	c.415del	p.Tyr139Ilefs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 4	No
PHEX_0137	c.416A>G	p.Tyr139Cys	PHEX	SNV	Missense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"		Exon 4	Yes
PHEX_0138	c.418T>C	p.Ser140Pro	PHEX	SNV	Missense	UNKNOWN	<5			Exon 4	No
PHEX_0139	c.419C>G	p.Ser140*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 4	Yes
PHEX_1005	c.413_419dup	p.Ser141Leufs*7	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 4	Yes
PHEX_0140	c.421T>C	p.Ser141Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		16636593, 26894575	Exon 4	Yes
PHEX_0141	c.422C>T	p.Ser141Phe	PHEX	SNV	Missense	Likely Pathogenic	5-10	Loss of weight, Lower limb deformities, Short stature, Type 1 diabetes	26894575	Exon 4	Yes
PHEX_0142	c.423del	p.Cys142Alafs*2	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 4	Yes
PHEX_0143	c.424T>C	p.Cys142Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		25086671	Exon 4	No
PHEX_0145	c.425G>C	p.Cys142Ser	PHEX	SNV	Missense	Uncertain Significance	<5		10439971, 16636593, 32253725	Exon 4	Yes
PHEX_0144	c.425G>T	p.Cys142Phe	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 4	Yes
PHEX_0146	c.426C>A	p.Cys142*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 4	Yes
PHEX_0147	c.433G>T	p.Glu145*	PHEX	SNV	Nonsense	Pathogenic	<5		30393837, 35654784	Exon 4	Yes
PHEX_1006	c.436_436+1del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		27840894, 34141703	Exon 4, Intron 4	No
PHEX_0153	c.436+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		18625346, 27840894, 29505567, 34141703	Intron 4	Yes
PHEX_0151	c.436+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		29460029, 29505567	Intron 4	No
PHEX_0149	c.436+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		24857004, 29505567	Intron 4	Yes
PHEX_0156	c.436+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	10439971, 16636593, 31102713	Intron 4	Yes
PHEX_1244	c.436+2_436+3del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5			Intron 4	Yes
PHEX_0155	c.436+3G>C	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5		21902834, 24857004, 31102713	Intron 4	Yes
PHEX_0150	c.436+4A>C	Intronic	PHEX	SNV	Splice region	Pathogenic	<5		19219621, 24857004, 31102713	Intron 4	No
PHEX_0154	c.436+4A>G	Intronic	PHEX	SNV	Splice region	Pathogenic	<5			Intron 4	Yes
PHEX_0824	c.436+4A>T	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		33639975	Intron 4	Yes
PHEX_0157	c.436+5G>A	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5			Intron 4	Yes
PHEX_0152	c.436+5G>T	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		15057978	Intron 4	Yes
PHEX_1007	c.436+5_436+8del	Intronic	PHEX	Deletion	Splice region	Uncertain Significance	<5		18625346	Intron 4	No
PHEX_1008	c.436+6T>A	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5			Intron 4	Yes
PHEX_0148	c.436+6T>C	Intronic	PHEX	SNV	Splice region	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Lower limb deformities, Muscle pain and/or weakness and/or fatigue, Null, Thyroid, Tooth abscesses and/or excessive dental caries"	18252791, 24857004, 31102713	Intron 4	Yes
PHEX_0160	c.437-3C>G	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		19219621, 24857004, 31102713	Intron 4	Yes
PHEX_0161	c.437-2A>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 4	Yes
PHEX_0159	c.437-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 4	Yes
PHEX_0825	c.444del	p.Ile148Metfs*73	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_1245	c.446del	p.Ala151Glnfs*70	PHEX	Deletion	Frameshift	Pathogenic	<5		34333162	Exon 5	No
PHEX_0163	c.455dup	p.Asp152Glufs*20	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_0164	c.457dup	p.Ala153Glyfs*19	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_1246	c.457_470del	p.Ala153Thrfs*14	PHEX	Deletion	Frameshift	Pathogenic	<5		34333162	Exon 5	No
PHEX_0165	c.463C>G	p.Pro155Ala	PHEX	SNV	Missense	Uncertain Significance	<5		22996961	Exon 5	No
PHEX_0166	c.465_466dup	p.Leu156Hisfs*66	PHEX	Duplication	Frameshift	Pathogenic	5-10	Lower limb deformities, Null, Other musculoskeletal abnormalities, Tooth abscesses and/or excessive dental caries	18162710, 22261628, 23079138, 24926462, 30599486	Exon 5	No
PHEX_1247	c.467T>G	p.Leu156Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 5	Yes
PHEX_0826	c.468dup	p.Leu157Alafs*15	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_0827	c.471del	p.His158Thrfs*63	PHEX	Deletion	Frameshift	Pathogenic	<5		33639975	Exon 5	No
PHEX_0167	c.479T>G	p.Leu160Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		11004247, 16636593	Exon 5	No
PHEX_0168	c.482G>C	p.Arg161Pro	PHEX	SNV	Missense	Pathogenic	5-10	Gait abnormalities, Lower limb deformities, Null, Short stature	21050253	Exon 5	Yes
PHEX_0169	c.485A>G	p.His162Arg	PHEX	SNV	Missense	UNKNOWN	<5		9768674	Exon 5	No
PHEX_1009	c.488C>A	p.Ser163*	PHEX	SNV	Nonsense	Pathogenic	<5		33796255, 36051396	Exon 5	Yes
PHEX_0170	c.489A>G	p.Ser163=	PHEX	SNV	Silent	Likely Benign	<5		9768674	Exon 5	Yes
PHEX_0171	c.496C>T	p.Arg166Cys	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Tooth abscesses and/or excessive dental caries	10439971, 11502829, 16636593, 23079138, 24926462	Exon 5	Yes
PHEX_0172	c.497del	p.Arg166Profs*55	PHEX	Deletion	Frameshift	Pathogenic	<5		30075510	Exon 5	No
PHEX_0173	c.499T>C	p.Trp167Arg	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Short stature	33639975	Exon 5	Yes
PHEX_1248	c.500G>A	p.Trp167*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 5	Yes
PHEX_1010	c.501G>A	p.Trp167*	PHEX	SNV	Nonsense	Pathogenic	<5		33666701	Exon 5	Yes
PHEX_0174	c.503C>T	p.Pro168Leu	PHEX	SNV	Missense	Pathogenic	11-20	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	16261449, 29460029	Exon 5	Yes
PHEX_0175	c.505G>A	p.Val169Met	PHEX	SNV	Missense	Likely Benign	5-10	Abnormal bone development, Lower limb deformities, Null	19219621	Exon 5	Yes
PHEX_0176	c.508_529del	p.Leu170Lysfs*44	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_1011	c.518_520delATAinsTT	p.Asn173Ilefs*48	PHEX	Delins	Frameshift	Pathogenic	<5		32253725	Exon 5	No
PHEX_1012	c.528del	p.Glu177Lysfs*44	PHEX	Deletion	Frameshift	Pathogenic	<5		27840894, 34141703	Exon 5	No
PHEX_0177	c.537T>A	p.Val179=	PHEX	SNV	Silent	Likely Benign	<5		9768674	Exon 5	Yes
PHEX_0178	c.538del	p.Trp180Glyfs*41	PHEX	Deletion	Frameshift	Pathogenic	5-10	Abnormal bone development, Alveolar bone loss, Lower limb deformities, Null, Tooth abscesses and/or excessive dental caries	19201216, 19219621, 27884786	Exon 5	Yes
PHEX_0179	c.540G>A	p.Trp180*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 5	Yes
PHEX_0180	c.542C>G	p.Ser181*	PHEX	SNV	Nonsense	Pathogenic	<5		29460029	Exon 5	No
PHEX_1104	c.548_549del	p.Arg183Lysfs*28	PHEX	Deletion	Frameshift	Pathogenic	<5		23813354, 32253725	Exon 5	No
PHEX_0182	c.551dup	p.Phe185Valfs*27	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_0828	c.552del	p.Lys184Asnfs*37	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_0184	c.565C>T	p.Gln189*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Abnormal bone development, Bilateral epicanthal folds, Flattened facies, Gait abnormalities, Harrison's groove and rachitic rosary, High arched palate, Impaired walk, Lower limb deformities, Macrocephaly, Null, Other musculoskeletal abnormalities, Pain (Site Not Specified), Pectus excavatum, Reduced_serum_phosphate, Short stature, Skull deformities, Thoracolumbar scoliosis"	12414858, 16261449, 16636593, 21902834, 23079138, 24926462, 33796255, 36011303, 36051396	Exon 5	Yes
PHEX_0829	c.567_568del	p.Gln189Hisfs*22	PHEX	Deletion	Frameshift	Pathogenic	<5		29707405, 35738466	Exon 5	Yes
PHEX_0183	c.567_576del	p.Thr190Argfs*28	PHEX	Deletion	Frameshift	Pathogenic	<5		22577109	Exon 5	No
PHEX_1013	c.572T>C	p.Leu191Pro	PHEX	SNV	Missense	Pathogenic	<5		32253725	Exon 5	Yes
PHEX_0185	c.574dup	p.Ala192Glyfs*20	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 5	No
PHEX_1249	c.574dupG	p.Ala192Glyfs*20	PHEX	Duplication	Frameshift	Pathogenic	<5		35106857	Exon 5	No
PHEX_0186	c.589C>T	p.Gln197*	PHEX	SNV	Nonsense	Pathogenic	<5		30599486	Exon 5	Yes
PHEX_0187	c.591A>G	p.Gln197=	PHEX	SNV	Silent	Pathogenic	21-30	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone deformity, Bone density abnormalities, Enlargement of the long bones, Fractures/pseudo-fractures, Gait abnormalities, Growth retardation, Lower limb deformities, Nervous system, Null, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Reduced_tmp/gfr_(	21902834, 29393334, 35842615	Exon 5	Yes
PHEX_1250	c.593del	p.Tyr198Serfs*23	PHEX	Deletion	Frameshift	Pathogenic	<5		35384411	Exon 5	Yes
PHEX_0188	c.593dup	p.Tyr198*	PHEX	Duplication	Nonsense	Pathogenic	<5			Exon 5	Yes
PHEX_0189	c.594C>G	p.Tyr198*	PHEX	SNV	Nonsense	Pathogenic	<5		11004247, 16636593	Exon 5	No
PHEX_1105	c.594C>A	p.Tyr198*	PHEX	SNV	Nonsense	Pathogenic	<5		32253725	Exon 5	No
PHEX_1251	c.610_612del	p.Ile204del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		36695943	Exon 5	No
PHEX_0190	c.610_663+50del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		16636593, 9097956, 9199930	Exon 5, Intron 5	No
PHEX_0830	c.614G>C	p.Arg205Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		29901142, 34141703	Exon 5	No
PHEX_0192	c.617T>A	p.Leu206*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 5	Yes
PHEX_0191	c.617T>G	p.Leu206Trp	PHEX	SNV	Missense	Likely Pathogenic	5-10	Lower limb deformities, Null, Short stature	16636593, 21293852, 23813354, 24857004	Exon 5	Yes
PHEX_1014	c.620_623del	p.Tyr207Cysfs*13	PHEX	Deletion	Frameshift	Pathogenic	<5		33666701	Exon 5	Yes
PHEX_0193	c.621T>A	p.Tyr207*	PHEX	SNV	Nonsense	Pathogenic	<5		19219621	Exon 5	No
PHEX_0194	c.630del	p.Asp211Metfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5		29460029	Exon 5	No
PHEX_1015	c.637A>T	p.Lys213*	PHEX	SNV	Nonsense	Pathogenic	<5		34141703	Exon 5	No
PHEX_1016	c.643dup	p.Ser215Phefs*3	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 5	Yes
PHEX_0195	c.649G>T	p.Glu217*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	16636593, 9768674	Exon 5	Yes
PHEX_1252	c.649_650delinsACCTTCATGATG	p.Glu217Thrfs*24	PHEX	Delins	Frameshift	Pathogenic	<5			Exon 5	No
PHEX_0831	c.652_655del	p.His218Serfs*2	PHEX	Deletion	Frameshift	Pathogenic	<5		29707405, 35738466	Exon 5	Yes
PHEX_0196	c.655_656del	p.Ile219Leufs*18	PHEX	Deletion	Frameshift	Pathogenic	<5		26051471	Exon 5	No
PHEX_1017	c.657_658del	p.Leu220Glufs*17	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 5	No
PHEX_0199	c.663G>A	p.Lys221=	PHEX	SNV	Silent	Likely Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"		Exon 5	Yes
PHEX_0198	c.663_663+12del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		25153221	Exon 5, Intron 5	No
PHEX_0197	c.663_1176del	p.Leu222Serfs*15	PHEX	Copy Number Loss	Deletion	Pathogenic	<5		21050253		No
PHEX_0200	c.663+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Pain (Site Not Specified), Short stature, Tooth abscesses and/or excessive dental caries"	25031893, 30599486	Intron 5	Yes
PHEX_0832	c.663+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Lumbar hyperlordosis, Reduced_serum_phosphate, Short stature, Skull deformities, Tooth abscesses and/or excessive dental caries"	33295632, 35738466	Intron 5	Yes
PHEX_0203	c.663+2T>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries		Intron 5	Yes
PHEX_0201	c.663+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		21293852, 23813354, 24857004	Intron 5	No
PHEX_0202	c.663+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 5	Yes
PHEX_0204	c.664-2A>C	Intronic	PHEX	SNV	Splice acceptor	Likely Pathogenic	<5			Intron 5	Yes
PHEX_1256	c.664-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 5	Yes
PHEX_0833	c.664-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		32329911	Intron 5	No
PHEX_1255	c.664-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 5	Yes
PHEX_0208	c.665T>C	p.Leu222Pro	PHEX	SNV	Missense	Pathogenic	<5		19219621, 36060934	Exon 6	No
PHEX_0834	c.665_674del	p.Leu222Glnfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		29707405, 35738466	Exon 6	Yes
PHEX_0209	c.670C>T	p.Gln224*	PHEX	SNV	Nonsense	Pathogenic	5-10	Abnormal bone development, Gait abnormalities, Lower limb deformities, Null, Short stature	16636593, 21293852, 23079138, 24857004, 24926462, 32133333, 33783172	Exon 6	Yes
PHEX_1018	c.671_685del	p.Gln224_Ser228del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		33907069	Exon 6	No
PHEX_0210	c.674del	p.Ala225Glufs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		21050253	Exon 6	No
PHEX_0211	c.677del	p.Thr226Asnfs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		15057978, 16636593	Exon 6	No
PHEX_0213	c.682dup	p.Ser228Phefs*10	PHEX	Duplication	Frameshift	Pathogenic	<5		21902834	Exon 6	Yes
PHEX_0214	c.682_683del	p.Ser228Profs*9	PHEX	Deletion	Frameshift	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Reduced_serum_phosphate	16636593, 21553362, 33639975, 9199930	Exon 6	Yes
PHEX_0215	c.690C>T	p.Ala230=	PHEX	SNV	Silent	Uncertain Significance	<5		11502829	Exon 6	Yes
PHEX_0216	c.710A>G	p.Asp237Gly	PHEX	SNV	Missense	Likely Pathogenic	5-10	Null	10439971, 12727977, 16636593, 23079138, 24926462	Exon 6	No
PHEX_0835	c.717_721del	p.Ser239Argfs*23	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 6	Yes
PHEX_1019	c.719del	p.Thr240Lysfs*21	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 6	Yes
PHEX_0217	c.724del	p.Ala242Profs*19	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 6	Yes
PHEX_0836	c.732+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		32329911	Intron 6	Yes
PHEX_0219	c.732+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		29460029, 32329911	Intron 6	No
PHEX_0221	c.732+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		24857004, 9097956	Intron 6	Yes
PHEX_0218	c.732+1_732+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		19219621, 27884786, 32253725	Intron 6	No
PHEX_1020	c.732+3A>T	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5			Intron 6	Yes
PHEX_0220	c.732+4_732+5insCA	Intronic	PHEX	Insertion	Splice region	Uncertain Significance	<5			Intron 6	Yes
PHEX_1257	c.732+5G>A	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5			Intron 6	Yes
PHEX_1144	c.733-565_1037del	Partial Deletion (Exons 7-9)	PHEX	Copy Number Loss	Deletion	Pathogenic	<5			Exon 7-9, Intron 6-8	No
PHEX_1021	c.733-2A>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 6	Yes
PHEX_0223	c.733-2A>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 6	Yes
PHEX_0224	c.733-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	9097956	Intron 6	Yes
PHEX_0226	c.733-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		9097956	Intron 6	Yes
PHEX_0225	c.733-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		19219621	Intron 6	No
PHEX_0227	c.735T>G	p.Tyr245*	PHEX	SNV	Nonsense	Pathogenic	<5		21553362	Exon 7	Yes
PHEX_0840	c.739del	p.Asp247Metfs*14	PHEX	Deletion	Frameshift	Pathogenic	<5		32329911	Exon 7	No
PHEX_0230	c.750C>G	p.Tyr250*	PHEX	SNV	Nonsense	Pathogenic	<5		21902834	Exon 7	Yes
PHEX_0229	c.750C>A	p.Tyr250*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593, 9768674	Exon 7	Yes
PHEX_0228	c.750del	p.Tyr250*	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 7	Yes
PHEX_0231	c.751A>T	p.Lys251*	PHEX	SNV	Nonsense	Pathogenic	<5		16261449	Exon 7	No
PHEX_0233	c.755T>C	p.Phe252Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		11502829, 16636593, 9106524	Exon 7	Yes
PHEX_1259	c.755_761del	p.Phe252Trpfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		36060934	Exon 7	No
PHEX_0232	c.759G>A	p.Met253Ile	PHEX	SNV	Missense	Likely Pathogenic	<5		16636593	Exon 7	Yes
PHEX_1145	c.759G>T	p.Met253Ile	PHEX	SNV	Missense	UNKNOWN	<5		9106524	Exon 7	No
PHEX_0237	c.766A>C	p.Thr256Pro	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 7	Yes
PHEX_1260	c.766dup	p.Thr256Asnfs*8	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 7	Yes
PHEX_0841	c.767_768del	p.Thr256Serfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		32897287	Exon 7	No
PHEX_0238	c.766_767dup	p.Ala257Leufs*5	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 7	Yes
PHEX_0240	c.779T>G	p.Leu260*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 7	Yes
PHEX_0241	c.784G>C	p.Ala262Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		21902834, 23079138, 24926462	Exon 7	No
PHEX_0236	c.763_784dup	p.Ala262Glyfs*9	PHEX	Duplication	Frameshift	UNKNOWN	<5			Exon 7	No
PHEX_0242	c.800C>A	p.Ala267Glu	PHEX	SNV	Missense	UNKNOWN	<5			Exon 7	No
PHEX_1022	c.812T>G	p.Met271Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		34141703	Exon 7	No
PHEX_0243	c.814A>T	p.Lys272*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 7	Yes
PHEX_0244	c.819_845del	p.Val274_Ala282del	PHEX	Deletion	Deletion	Pathogenic	<5			Exon 7	Yes
PHEX_0245	c.824T>C	p.Leu275Pro	PHEX	SNV	Missense	Likely Pathogenic	5-10	Genu varum, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries	27840894, 34141703	Exon 7	Yes
PHEX_1261	c.826A>T	p.Arg276*	PHEX	SNV	Nonsense	Pathogenic	<5		35738466	Exon 7	Yes
PHEX_0246	c.830T>A	p.Leu277*	PHEX	SNV	Nonsense	Pathogenic	<5		11502829, 16636593, 23079138, 24926462, 9106524	Exon 7	Yes
PHEX_0247	c.832G>A	p.Glu278Lys	PHEX	SNV	Missense	Uncertain Significance	<5		29610183	Exon 7	Yes
PHEX_0248	c.832G>T	p.Glu278*	PHEX	SNV	Nonsense	Pathogenic	<5		10439971, 16636593, 23079138, 24926462	Exon 7	Yes
PHEX_0249	c.840_849+1del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5			Exon 7, Intron 7	No
PHEX_0250	c.842T>A	p.Ile281Lys	PHEX	SNV	Missense	Pathogenic	<5		26377240, 32329911	Exon 7	No
PHEX_0251	c.845C>A	p.Ala282Asp	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 7	No
PHEX_0252	c.847_849+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5			Exon 7, Intron 7	Yes
PHEX_1262	c.849_849+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		35384411	Exon 7, Intron 7	Yes
PHEX_0256	c.849+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	11-20	Null	12414858, 16636593, 20578943, 24857004	Intron 7	Yes
PHEX_0254	c.849+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		16636593, 19219621, 21050253, 9097956	Intron 7	Yes
PHEX_1023	c.849+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		27840894, 34141703	Intron 7	No
PHEX_0842	c.849+3A>G	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		33295632	Intron 7	Yes
PHEX_0255	c.849+6_849+7insT	Intronic	PHEX	Duplication	Splice region	Uncertain Significance	<5		19219621	Intron 7	No
PHEX_1024	c.849+128G>A	Intronic	PHEX	SNV	Intronic	Benign	<5		19219621	Intron 7	Yes
PHEX_0253	c.849+1268G>T	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		11502821	Intron 7	Yes
PHEX_0261	c.850-15_853del19insTCTCTTGG	Intronic	PHEX	Delins	Splice acceptor	Pathogenic	<5			Exon 8, Intron 7	No
PHEX_1263	c.850-10_858del	Intronic	PHEX	Deletion	Splice acceptor	Likely Pathogenic	<5			Exon 8, Intron 7	Yes
PHEX_0260	c.850-3C>G	Intronic	PHEX	SNV	Splice region	Pathogenic	<5		16636593, 31102713	Intron 7	No
PHEX_0257	c.850-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries"		Intron 7	Yes
PHEX_0259	c.850del	p.Ile284*	PHEX	Deletion	Frameshift	Pathogenic	<5		22101457, 29460029	Exon 8	Yes
PHEX_0843	c.853dup	p.Met285Asnfs*5	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_1264	c.869del	p.Asn290Thrfs*11	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_0263	c.871C>T	p.Arg291*	PHEX	SNV	Nonsense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Cardio vascular disease, Dislocation of lens in eyes, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Growth retardation, Hearing abnormalities, Hyperlordosis, Light blue sclera, Lower limb deformities, Null, Other musculoskeletal abnormalities, Primary tubulopathies, Reduced_serum_phosphate, Reduced_tmp/gfr_(	10439971, 10874297, 11004247, 11502829, 16636593, 19219621, 22161748, 23466123, 26040324, 27840894, 28506344, 29460029, 29707405, 30607568, 32133333, 32329911, 33295632, 33358363, 33537138, 33639975, 34141703, 34333162, 35738466, 36165379, 36482408, 9199930, 9768674	Exon 8	Yes
PHEX_0844	c.874dup	p.Thr292Asnfs*13	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_0264	c.883del	p.Ala295Profs*6	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_1265	c.884_885dup	p.Met296Profs*6	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_0267	c.888delinsAT	p.Met296Ilefs*9	PHEX	Delins	Frameshift	Pathogenic	<5			Exon 8	No
PHEX_0845	c.891C>A	p.Tyr297*	PHEX	SNV	Nonsense	Pathogenic	<5		33639975	Exon 8	No
PHEX_0268	c.891C>G	p.Tyr297*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 8	Yes
PHEX_1025	c.895A>T	p.Lys299*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 8	Yes
PHEX_0269	c.897_898del	p.Lys299Asnfs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		21902834, 33639975	Exon 8	No
PHEX_0270	c.898del	p.Met300*	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_0846	c.899_900del	p.Met300Lysfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5		33295632	Exon 8	No
PHEX_0271	c.904A>G	p.Ile302Val	PHEX	SNV	Missense	UNKNOWN	<5			Exon 8	No
PHEX_1026	c.907del	p.Ser303Leufs*3	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_0272	c.907T>A	p.Ser303Thr	PHEX	SNV	Missense	Uncertain Significance	<5		30607568	Exon 8	No
PHEX_0273	c.914T>C	p.Leu305Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		18775977	Exon 8	Yes
PHEX_1266	c.914T>G	p.Leu305Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 8	Yes
PHEX_1027	c.917del	p.Ser306Metfs*3	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 8	No
PHEX_1106	c.927del	p.Gln311Serfs*20	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 8	No
PHEX_0274	c.924_927dup	p.Pro310Aspfs*15	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 8	Yes
PHEX_1107	c.931del	p.Gln311Serfs*20	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 8	No
PHEX_0275	c.931C>T	p.Gln311*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Genu varum, Lower limb deformities, Null, Short stature"	16636593, 19219621, 22161748, 27840894, 28506344, 34141703, 9097956	Exon 8	Yes
PHEX_0847	c.931dup	p.Gln311Profs*13	PHEX	Duplication	Frameshift	Pathogenic	<5		28506344	Exon 8	No
PHEX_0266	c.933+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		9199930	Intron 8	Yes
PHEX_0276	c.933+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		30682568	Intron 8	Yes
PHEX_1028	c.933+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		32253725	Intron 8	No
PHEX_0279	c.933+2T>A	Intronic	PHEX	SNV	Splice donor	UNKNOWN	<5			Intron 8	Yes
PHEX_0278	c.934-16_934-12delinsCTACCTAACTGAGAT	Intronic	PHEX	Delins	Intronic	Uncertain Significance	<5			Intron 8	Yes
PHEX_1029	c.934-12_936del	Intronic	PHEX	Deletion	Splice acceptor	Likely Pathogenic	<5		32253725	Exon 9, Intron 8	No
PHEX_0277	c.934-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		16636593, 9768674	Intron 8	Yes
PHEX_1030	c.934-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		28509123	Intron 8	Yes
PHEX_0282	c.934-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		24926462, 30599486	Intron 8	Yes
PHEX_1267	c.935T>C	p.Phe312Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		36060934	Exon 9	No
PHEX_0283	c.934-1_937dup	p.Asp313Glyfs*20	PHEX	Duplication	Frameshift	Pathogenic	<5		16636593	Exon 9	No
PHEX_1108	c.940T>C	p.Trp314Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		34141703	Exon 9	No
PHEX_0284	c.941G>A	p.Trp314*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 9	Yes
PHEX_0286	c.942G>A	p.Trp314*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	16636593	Exon 9	Yes
PHEX_1031	c.943_946del	p.Leu315Alafs*15	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_1268	c.944dup	p.Tyr317Leufs*7	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_0288	c.947G>T	p.Gly316Val	PHEX	SNV	Missense	Uncertain Significance	<5		25861491	Exon 9	Yes
PHEX_0848	c.949T>A	p.Tyr317Asn	PHEX	SNV	Missense	Likely Pathogenic	<5		32329911	Exon 9	No
PHEX_0289	c.950A>T	p.Tyr317Phe	PHEX	SNV	Missense	Likely Pathogenic	5-10	Lower limb deformities, Null	10439971, 12727977, 16636593, 21604088, 22161748, 22713460, 25861491, 9768674	Exon 9	No
PHEX_0290	c.956dup	p.Lys320Glufs*4	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_0291	c.958_960del	p.Lys320del	PHEX	Deletion	Deletion	Likely Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Short stature	22695891, 26377240, 32236876	Exon 9	Yes
PHEX_0292	c.961_962insAGTTACTG	p.Val321Glufs*13	PHEX	Insertion	Frameshift	Pathogenic	<5		16636593, 9097956	Exon 9	No
PHEX_1269	c.961_968dup	p.Asp323Glufs*11	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_0295	c.978_979dup	p.Tyr327Serfs*5	PHEX	Duplication	Frameshift	Pathogenic	<5		19219621	Exon 9	Yes
PHEX_0299	c.981C>G	p.Tyr327*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 9	Yes
PHEX_0296	c.979_983dup	p.His329Thrfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5		29505567	Exon 9	No
PHEX_0300	c.985dup	p.His329Profs*20	PHEX	Duplication	Frameshift	Pathogenic	5-10	Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	16636593, 35738466, 9097956, 9768674	Exon 9	Yes
PHEX_1109	c.986_1004delATCTGAAAGACATCAGCCC	p.His329Profs*20	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 9	No
PHEX_0301	c.994del	p.Asp332Thrfs*23	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_0849	c.998_1000del	p.Ile333del	PHEX	Deletion	Deletion	Pathogenic	<5		32329911	Exon 9	No
PHEX_0303	c.1002_1003insG	p.Pro335Alafs*14	PHEX	Insertion	Frameshift	Pathogenic	<5		19219621	Exon 9	No
PHEX_0302	c.1005del	p.Ser336Profs*19	PHEX	Deletion	Frameshift	Pathogenic	<5		22577109	Exon 9	No
PHEX_0304	c.1008dup	p.Glu337Argfs*12	PHEX	Duplication	Frameshift	Pathogenic	<5		21994957	Exon 9	No
PHEX_0305	c.1009G>T	p.Glu337*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 9	Yes
PHEX_0850	c.1009_1405-9282del	Partial Deletion (Exons 9-12)	PHEX	Copy Number Loss	Deletion	Pathogenic	<5				No
PHEX_0306	c.1013_1018del	p.Asn338_Val340delinsMet	PHEX	Deletion	Deletion	Likely Pathogenic	<5		15057978, 16636593	Exon 9	No
PHEX_1032	c.1016T>A	p.Val339Glu	PHEX	SNV	Missense	Likely Pathogenic	<5		34141703	Exon 9	No
PHEX_0307	c.1020_1022del	p.Val341del	PHEX	Deletion	Deletion	Uncertain Significance	<5		16636593	Exon 9	Yes
PHEX_0308	c.1021del	p.Val341Serfs*14	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_0309	c.1022dup	p.Arg342Profs*7	PHEX	Duplication	Frameshift	UNKNOWN	<5			Exon 9	No
PHEX_0310	c.1033C>T	p.Gln345*	PHEX	SNV	Nonsense	Pathogenic	<5		22101457, 29460029	Exon 9	Yes
PHEX_0311	c.1034del	p.Gln345Argfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5		22577109	Exon 9	No
PHEX_0312	c.1036T>G	p.Tyr346Asp	PHEX	SNV	Missense	Pathogenic	<5		19219621, 22161748	Exon 9	Yes
PHEX_0313	c.1037A>G	p.Tyr346Cys	PHEX	SNV	Missense	Pathogenic	<5			Exon 9	Yes
PHEX_1033	c.1038C>A	p.Tyr346*	PHEX	SNV	Nonsense	Pathogenic	<5		34141703	Exon 9	No
PHEX_0314	c.1042A>T	p.Lys348*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593, 19219621, 22161748, 9097956	Exon 9	Yes
PHEX_0315	c.1044del	p.Asp349Ilefs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		21050253, 32619592	Exon 9	Yes
PHEX_1034	c.1046A>G	p.Asp349Gly	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 9	Yes
PHEX_0316	c.1046dup	p.Asp349Glufs*4	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_1152	c.1050del	p.Leu350Phefs*5	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 9	Yes
PHEX_1151	c.1017_1051dup	p.Phe351Trpfs*16	PHEX	Duplication	Frameshift	Pathogenic	<5		35842615	Exon 9	No
PHEX_1035	c.1065del	p.Ser356Leufs*37	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 9	Yes
PHEX_0318	c.1076del	p.Lys359Argfs*34	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 9097956	Exon 9	Yes
PHEX_0852	c.1053_1077dup	p.Lys360*	PHEX	Duplication	Nonsense	Pathogenic	<5			Exon 9	Yes
PHEX_1153	c.1078A>T	p.Lys360*	PHEX	SNV	Nonsense	Pathogenic	<5		35842615	Exon 9	No
PHEX_0321	c.1079+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	11-20	"Abnormal bone development, Bone deformity, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Mild bone deformity, Null, Reduced_serum_phosphate, Scoliosis, Short stature, Skull deformities, Tooth abscesses and/or excessive dental caries"	15057978, 16636593, 21050253, 32133333, 32329911, 33639975, 35842615	Intron 9	Yes
PHEX_0322	c.1079+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		30607568, 33639975	Intron 9	Yes
PHEX_0319	c.1079+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	10439971, 16636593, 23079138, 24926462	Intron 9	Yes
PHEX_0320	c.1079+2_1079+5del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		15057978, 19219621, 34141703, not a paper?	Intron 9	Yes
PHEX_1154	c.1080-604_1287del	Partial Deletion (Exons 10-11)	PHEX	Copy Number Loss	Deletion	Pathogenic	<5			Exon 10-11, Intron 9-10	No
PHEX_0326	c.1080-3C>A	Intronic	PHEX	SNV	Splice region	Pathogenic	<5		26107949, 31102713	Intron 9	No
PHEX_0329	c.1080-2A>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		26904698, 31102713	Intron 9	No
PHEX_0330	c.1080-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Cardio vascular disease, Gait abnormalities, Lower limb deformities, Nervous system, Other musculoskeletal abnormalities, Short stature, Skull deformities, Tooth abscesses and/or excessive dental caries"	26051471, 9097956	Intron 9	Yes
PHEX_0328	c.1080-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 9	Yes
PHEX_1036	c.1087G>C	p.Ala363Pro	PHEX	SNV	Missense	Pathogenic	<5			Exon 10	Yes
PHEX_0331	c.1088C>T	p.Ala363Val	PHEX	SNV	Missense	Likely Pathogenic	<5		19513579	Exon 10	Yes
PHEX_0332	c.1092C>A	p.Asn364Lys	PHEX	SNV	Missense	Likely Pathogenic	<5		19219621	Exon 10	No
PHEX_0333	c.1103G>A	p.Trp368*	PHEX	SNV	Nonsense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Null, Reduced_serum_phosphate, Short stature	15057978, 16636593, 22695891, 31903094	Exon 10	Yes
PHEX_0334	c.1104G>A	p.Trp368*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 10	Yes
PHEX_0335	c.1105A>T	p.Arg369*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	21902834, 23079138, 24926462	Exon 10	Yes
PHEX_1037	c.1104_1106dupGAG	p.Arg369dup	PHEX	Duplication	Insertion	Likely Pathogenic	<5		32253725	Exon 10	No
PHEX_0336	c.1106_1108dup	p.Arg369dup	PHEX	Duplication	Insertion	Pathogenic	<5			Exon 10	No
PHEX_0337	c.1109T>G	p.Met370Arg	PHEX	SNV	Missense	Likely Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature	18625346	Exon 10	Yes
PHEX_0338	c.1110_1111insAAG	p.Met370_Val371insLys	PHEX	Insertion	Insertion	Likely Pathogenic	<5		19219621	Exon 10	No
PHEX_0339	c.1116T>A	p.Tyr372*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 10	Yes
PHEX_0340	c.1118C>T	p.Ser373Phe	PHEX	SNV	Missense	Likely Pathogenic	<5		21050253	Exon 10	No
PHEX_0341	c.1133T>C	p.Leu378Pro	PHEX	SNV	Missense	Likely Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	11502829, 16636593, 23079138, 24926462	Exon 10	Yes
PHEX_0342	c.1134del	p.Ser379Alafs*14	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 9199930	Exon 10	Yes
PHEX_0343	c.1137_1149del	p.Arg380Ilefs*9	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 10	Yes
PHEX_1038	c.1138del	p.Arg380Glyfs*13	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 10	Yes
PHEX_0344	c.1142G>A	p.Arg381His	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 10	No
PHEX_0345	c.1146del	p.Gln383Serfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 10	Yes
PHEX_0346	c.1147C>T	p.Gln383Ter	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 10	Yes
PHEX_0348	c.1152T>G	p.Tyr384*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	19219621, 21994957	Exon 10	Yes
PHEX_0347	c.1152dup	p.Arg385*	PHEX	Duplication	Frameshift	Pathogenic	<5		23813354	Exon 10	No
PHEX_1156	c.1152_1153del	p.Tyr384*	PHEX	Deletion	Nonsense	Pathogenic	<5			Exon 10	Yes
PHEX_0349	c.1157G>A	p.Trp386*	PHEX	SNV	Nonsense	Pathogenic	<5		32329911	Exon 10	Yes
PHEX_0350	c.1158G>A	p.Trp386*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	16636593, 25894638, 29460029	Exon 10	Yes
PHEX_0352	c.1164dup	p.Phe389Ilefs*23	PHEX	Duplication	Frameshift	Pathogenic	<5		21050253	Exon 10	No
PHEX_0353	c.1166del	p.Phe389Serfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5		11502829, 16636593	Exon 10	No
PHEX_1039	c.1167_1173+17del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		32253725	Exon 10, Intron 10	No
PHEX_1040	c.1168del	p.Ser390Glnfs*3	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 10	Yes
PHEX_1157	c.1169del	p.Ser390*	PHEX	Deletion	Frameshift	Pathogenic	<5		34333162, 35384411	Exon 10	No
PHEX_0356	c.1173+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Short stature	21902834, 23079138, 24926462, 34141703	Intron 10	Yes
PHEX_0359	c.1173+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		22101457, 29460029	Intron 10	Yes
PHEX_0355	c.1173+1del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5			Intron 10	Yes
PHEX_0354	c.1173+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		25086671	Intron 10	Yes
PHEX_0357	c.1173+2T>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	11-20	Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries		Intron 10	Yes
PHEX_1158	c.1173+5G>T	Intronic	PHEX	SNV	Splice region	Pathogenic	<5			Intron 10	Yes
PHEX_0358	c.1173+5G>A	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5			Intron 10	Yes
PHEX_1041	c.1174-937T>G	Intronic	PHEX	SNV	Intronic	Benign	<5		21644943	Intron 10	No
PHEX_1042	c.1174-3C>G	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		34141703	Intron 10	Yes
PHEX_1159	c.1174-2A>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 10	Yes
PHEX_0853	c.1174-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	Null	34141703	Intron 10	Yes
PHEX_0362	c.1174-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Genu varum, Lower limb deformities, Null, Pain (Site Not Specified), Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	18162710, 24836714, 27840894, 28506344, 30599486, 34141703	Intron 10	Yes
PHEX_0363	c.1180C>T	p.Gln394*	PHEX	SNV	Nonsense	Pathogenic	5-10	Lower limb deformities, Null	15057978, 19513579	Exon 11	Yes
PHEX_0364	c.1183G>C	p.Gly395Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		24836714	Exon 11	No
PHEX_1146	c.1183_1302+8139del	Partial Deletion (Exon 11)	PHEX	Deletion	Splice donor	Pathogenic	<5			Exon 11, Intron 11	No
PHEX_0365	c.1185del	p.Thr396Profs*12	PHEX	Deletion	Frameshift	Pathogenic	<5		15057978, 19219621	Exon 11	Yes
PHEX_1161	c.1196dup	p.Leu399Phefs*13	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 11	Yes
PHEX_1162	c.1202del	p.Pro401Leufs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		35738466	Exon 11	Yes
PHEX_0366	c.1204C>T	p.Gln402*	PHEX	SNV	Nonsense	Pathogenic	5-10	Abnormal bone development, Gait abnormalities, Lower limb deformities, Short stature	33639975	Exon 11	Yes
PHEX_0368	c.1206A>G	p.Gln402Gln	PHEX	SNV	Silent	Likely Benign	<5		19219621	Exon 11	Yes
PHEX_0367	c.1206del	p.Gln402Hisfs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		29505567	Exon 11	Yes
PHEX_0369	c.1208G>A	p.Trp403*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature"	19219621, 26377240, 33666701	Exon 11	Yes
PHEX_0370	c.1209G>A	p.Trp403*	PHEX	SNV	Nonsense	Pathogenic	11-20	"Bone and/or joint pain and/or joint stiffness, Leg deformities, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	14564066, 15057978, 16636593, 30920082, 9097956	Exon 11	Yes
PHEX_0371	c.1210del	p.Asp404Thrfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 11	Yes
PHEX_0372	c.1211_1215delinsTTTACAT	p.Asp404Valfs*5	PHEX	Delins	Frameshift	Pathogenic	<5		26107949	Exon 11	No
PHEX_0376	c.1216T>A	p.Cys406Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		24756041	Exon 11	No
PHEX_0373	c.1216T>C	p.Cys406Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		24756041, 29505567	Exon 11	Yes
PHEX_0374	c.1217G>A	p.Cys406Tyr	PHEX	SNV	Missense	Pathogenic	<5		23079138, 24926462, 29505567, 35384411	Exon 11	Yes
PHEX_0375	c.1217G>T	p.Cys406Phe	PHEX	SNV	Missense	Pathogenic	<5		29460029, 29505567	Exon 11	Yes
PHEX_0854	c.1218T>A	p.Cys406*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 11	Yes
PHEX_1043	c.1220T>G	p.Val407Gly	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 11	Yes
PHEX_0377	c.1224del	p.Phe409Leufs*15	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 11	Yes
PHEX_1044	c.1234del	p.Ser412Valfs*12	PHEX	Deletion	Frameshift	Pathogenic	5-10	Genu varum, Short stature, Tooth abscesses and/or excessive dental caries	27840894, 34141703	Exon 11	No
PHEX_0378	c.1237G>C	p.Ala413Pro	PHEX	SNV	Missense	Pathogenic	5-10			Exon 11	Yes
PHEX_0379	c.1251del	p.Val418Leufs*6	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 11	No
PHEX_0380	c.1263del	p.Met421Ilefs*3	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 11	No
PHEX_0381	c.1269del	p.Asp424Metfs*11	PHEX	Deletion	Frameshift	Pathogenic	<5		10439971, 16636593	Exon 11	Yes
PHEX_0382	c.1270_1271del	p.Asp424Cysfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		15057978	Exon 11	No
PHEX_0383	c.1278C>G	p.Tyr426*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593	Exon 11	No
PHEX_0384	c.1282C>T	p.Gln428*	PHEX	SNV	Nonsense	Pathogenic	<5		15057978, 16636593	Exon 11	Yes
PHEX_1163	c.1283del	p.Gln428Argfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 11	Yes
PHEX_0385	c.1294A>T	p.Lys432*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone density abnormalities, Difficulty walking, Genu varum, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries"	22713460, 23813354, 24857004, 27840894, 29901142, 34141703	Exon 11	No
PHEX_0387	c.1302+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		16636593, 9097956	Intron 11	Yes
PHEX_0386	c.1302+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature"	26377240, 32253725, 32329911, 36060934	Intron 11	Yes
PHEX_0388	c.1302+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 11	Yes
PHEX_0855	c.1302+4_1302+10del	Intronic	PHEX	Deletion	Splice region	Likely Pathogenic	5-10	Fractures/pseudo-fractures, Lower limb deformities, Tooth abscesses and/or excessive dental caries		Intron 11	Yes
PHEX_1045	c.1303-3589C>G	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		16183656	Intron 11	No
PHEX_1166	c.1303-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 11	Yes
PHEX_1046	c.1303-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		34141703	Intron 11	Yes
PHEX_0396	c.1303-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		26051471	Intron 11	No
PHEX_1165	c.1303-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 11	Yes
PHEX_0398	c.1304T>G	p.Met435Arg	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 12	Yes
PHEX_0399	c.1305_1306insC	p.Glu436Argfs*5	PHEX	Insertion	Frameshift	Pathogenic	<5		21050253	Exon 12	No
PHEX_0402	c.1309G>T	p.Glu437*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 12	Yes
PHEX_0401	c.1309dup	p.Glu437Glyfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0405	c.1313T>G	p.Leu438Trp	PHEX	SNV	Missense	Likely Pathogenic	<5		22695891	Exon 12	No
PHEX_0404	c.1313del	p.Leu438Trpfs*13	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0403	c.1313T>C	p.Leu438Ser	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 12	Yes
PHEX_1167	c.1316T>G	p.Val439Gly	PHEX	SNV	Missense	Likely Pathogenic	<5		35738466	Exon 12	Yes
PHEX_0406	c.1319_1321del	p.Glu440del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		19219621	Exon 12	No
PHEX_0407	c.1324G>T	p.Val442Phe	PHEX	SNV	Missense	Pathogenic	5-10	Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Short stature	15057978, 33639975	Exon 12	Yes
PHEX_0408	c.1328G>C	p.Arg443Pro	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 12	Yes
PHEX_0409	c.1328G>A	p.Arg443His	PHEX	SNV	Missense	Uncertain Significance	<5		36051396	Exon 12	Yes
PHEX_0410	c.1331G>A	p.Trp444*	PHEX	SNV	Nonsense	Pathogenic	<5		22695891, 32329911	Exon 12	Yes
PHEX_0411	c.1332G>A	p.Trp444*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Kyphosis, Lower limb deformities, Pain (Site Not Specified), Short stature, Tooth abscesses and/or excessive dental caries"	24836714, 29901142, 34141703	Exon 12	Yes
PHEX_0412	c.1332_1333insAAC	p.Trp444_Ala445insAsn	PHEX	Insertion	Insertion	Likely Pathogenic	<5		11004247, 16636593	Exon 12	No
PHEX_1047	c.1333del	p.Ala445Profs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 12	No
PHEX_0856	c.1334C>A	p.Ala445Asp	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 12	Yes
PHEX_0413	c.1335del	p.Phe446Leufs*5	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0857	c.1337delinsAATAA	p.Phe446*	PHEX	Delins	Nonsense	Pathogenic	<5		29707405, 35738466	Exon 12	No
PHEX_1168	c.1344del	p.Asp448Glufs*3	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_1169	c.1345del	p.Met449Cysfs*2	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0414	c.1349T>C	p.Leu450Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		21050253	Exon 12	No
PHEX_0415	c.1351G>T	p.Glu451*	PHEX	SNV	Nonsense	Pathogenic	<5		10439971, 16636593, 23079138, 24926462	Exon 12	No
PHEX_1170	c.1357_1358del	p.Glu453Lysfs*2	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0416	c.1357_1360del	p.Glu453Metfs*29	PHEX	Deletion	Frameshift	Pathogenic	<5		29460029	Exon 12	No
PHEX_0417	c.1363G>T	p.Glu455*	PHEX	SNV	Nonsense	Pathogenic	11-20	"Abnormal bone development, Lower limb deformities, Null, Ossified posterior longitudinal ligament, Other musculoskeletal abnormalities, Tooth abscesses and/or excessive dental caries"	10439971, 16636593, 18162710, 22261628, 23079138, 24926462, 30599486	Exon 12	Yes
PHEX_1171	c.1364del	p.Glu455Glyfs*28	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0418	c.1366T>A	p.Trp456Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		29460029	Exon 12	No
PHEX_1048	c.1366T>G	p.Trp456Gly	PHEX	SNV	Missense	Likely Pathogenic	<5		33666701	Exon 12	Yes
PHEX_0419	c.1367G>A	p.Trp456*	PHEX	SNV	Nonsense	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Other musculoskeletal abnormalities, Short stature	16636593, 30607568, 32253725, 33639975, 9199930	Exon 12	Yes
PHEX_0420	c.1368G>A	p.Trp456*	PHEX	SNV	Nonsense	Pathogenic	<5		22577109	Exon 12	Yes
PHEX_0421	c.1368G>C	p.Trp456Cys	PHEX	SNV	Missense	Pathogenic	5-10	Gait abnormalities, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	29460029	Exon 12	Yes
PHEX_0858	c.1382C>A	p.Thr461Lys	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 12	Yes
PHEX_0423	c.1382C>G	p.Thr461Arg	PHEX	SNV	Missense	Pathogenic	<5			Exon 12	Yes
PHEX_0424	c.1387del	p.Arg463Glyfs*20	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0859	c.1387dup	p.Arg463Lysfs*23	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_1172	c.1389_1404del	p.Lys464Argfs*14	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0425	c.1394C>A	p.Ala465Asp	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 12	Yes
PHEX_0860	c.1398dup	p.Glu467Argfs*19	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 12	Yes
PHEX_0426	c.1399G>T	p.Glu467*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593, 34141703	Exon 12	Yes
PHEX_0427	c.1400_1404del	p.Glu467Glyfs*17	PHEX	Deletion	Frameshift	Pathogenic	<5		15057978, 16636593	Exon 12	Yes
PHEX_0428	c.1402A>G	p.Lys468Glu	PHEX	SNV	Missense	Uncertain Significance	<5		32329911	Exon 12	Yes
PHEX_0429	c.1403A>C	p.Lys468Thr	PHEX	SNV	Missense	Pathogenic	<5			Exon 12	Yes
PHEX_0430	c.1403del	p.Lys468Argfs*15	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 19219621	Exon 12	No
PHEX_1110	c.1404G>T	p.Lys468Asn	PHEX	SNV	Missense	Pathogenic	<5		32253725	Exon 12	Yes
PHEX_0432	c.1404G>C	p.Lys468Asn	PHEX	SNV	Missense	Likely Pathogenic	<5		33358363, 33639975, 36165379	Exon 12	Yes
PHEX_0433	c.1404+1del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		29505567	Intron 12	No
PHEX_0431	c.1404+2_1404+6del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		22695891	Intron 12	Yes
PHEX_1049	c.1404+9251G>A	Intronic	PHEX	SNV	Intronic	Benign	<5		21326311	Intron 12	No
PHEX_1050	c.1405-6860C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		20018918	Intron 12	No
PHEX_1175	c.1405-2_1415del	Intronic	PHEX	Deletion	Splice acceptor	Likely Pathogenic	<5			Exon 13, Intron 12	Yes
PHEX_1051	c.1406C>A	p.Ala469Glu	PHEX	SNV	Missense	Pathogenic	<5		33666701	Exon 13	Yes
PHEX_0442	c.1412_1417del	p.Ala471_Leu473delinsVal	PHEX	Deletion	Deletion	Pathogenic	<5			Exon 13	Yes
PHEX_1052	c.1415T>A	p.Val472Asp	PHEX	SNV	Missense	Likely Pathogenic	<5		34141703	Exon 13	Yes
PHEX_1053	c.1426G>A	p.Val476Ile	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 13	Yes
PHEX_0443	c.1434T>A	p.Tyr478*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593, 19219621, 9097956	Exon 13	Yes
PHEX_1147	c.1445_1482+235del	Intronic	PHEX	Deletion	Splice donor	Likely Pathogenic	<5			Exon 13, Intron 13	Yes
PHEX_0864	c.1446_1452del	p.Ile482Metfs*30	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 13	Yes
PHEX_1054	c.1461del	p.His487Glnfs*27	PHEX	Deletion	Frameshift	Pathogenic	<5		33796255, 34141703, 36051396	Exon 13	Yes
PHEX_0444	c.1471del	p.Asp491Thrfs*23	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621, 27884786	Exon 13	No
PHEX_0445	c.1474del	p.Leu492Serfs*22	PHEX	Deletion	Frameshift	Pathogenic	<5		29460029	Exon 13	Yes
PHEX_0451	c.1482+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	11-20	Lower limb deformities, Null, Reduced_serum_phosphate	11502829, 16636593, 21050253, 24926462, 31102713, 34141703, 9768674	Intron 13	Yes
PHEX_0453	c.1482+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"		Intron 13	Yes
PHEX_0447	c.1482+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		23079138	Intron 13	Yes
PHEX_0449	c.1482+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 13	Yes
PHEX_1176	c.1482+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		35738466	Intron 13	Yes
PHEX_0450	c.1482+3A>C	Intronic	PHEX	SNV	Splice region	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"		Intron 13	Yes
PHEX_0448	c.1482+3_1482+4delinsT	Intronic	PHEX	Delins	Splice region	Uncertain Significance	<5		19219621	Intron 13	No
PHEX_0452	c.1482+4del	Intronic	PHEX	Deletion	Splice region	Uncertain Significance	<5		21902834, 24926462, 33639975	Intron 13	No
PHEX_0446	c.1482+5G>C	Intronic	PHEX	SNV	Splice region	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Lower limb deformities, Null, Other musculoskeletal abnormalities, Pes planus, Reduced_serum_phosphate, Short stature"	16636593, 29460029, 31102713, 34275936, 36692815	Intron 13	Yes
PHEX_1055	c.1483-1012C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		28900292	Intron 13	No
PHEX_1056	c.1483-804T>A	Intronic	PHEX	SNV	Intronic	Pathogenic	<5		33953992	Intron 13	No
PHEX_0458	c.1483-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		23079138, 24926462, 25031893	Intron 13	Yes
PHEX_0454	c.1483-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	Gait abnormalities, Lower limb deformities, Lumbar hyperlordosis, Null	22577109, 33295632	Intron 13	Yes
PHEX_0457	c.1483-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Lower limb deformities, Null, Pain (Site Not Specified), Reduced_serum_phosphate, Short stature"	27840894, 31567381, 34141703, 34218635	Intron 13	Yes
PHEX_0460	c.?	p.Lys496*	PHEX	SNV	Nonsense	Pathogenic	5-10	Null	22006791, 22573557, 23700148, 28005411, 29381780	Exon 14	Unknown
PHEX_0461	c.1491_1509del	p.Phe497Leufs*11	PHEX	Deletion	Frameshift	Pathogenic	<5		26377240	Exon 14	No
PHEX_1177	c.1495G>T	p.Glu499*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 14	Yes
PHEX_0462	c.1503_1504insGACT	p.Tyr502Aspfs*17	PHEX	Insertion	Frameshift	Pathogenic	<5		10439971, 16636593, 23079138, 24926462	Exon 14	No
PHEX_1057	c.1506C>G	p.Tyr502*	PHEX	SNV	Nonsense	Pathogenic	<5		33666701	Exon 14	Yes
PHEX_0463	c.1519C>G	p.Leu507Val	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 14	Yes
PHEX_0464	c.1520T>C	p.Leu507Pro	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 14	Yes
PHEX_0465	c.1522C>T	p.Gln508*	PHEX	SNV	Nonsense	Pathogenic	<5		19219621, 21050253, 22695891	Exon 14	No
PHEX_0466	c.1523_1537del	p.Gln508del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		15057978	Exon 14	No
PHEX_1111	c.1525del	p.Thr509Leufs*5	PHEX	Deletion	Frameshift	Pathogenic	5-10			Exon 14	Yes
PHEX_0468	c.1529G>C	p.Arg510Pro	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Null, Short stature	15057978, 16636593, 21902834, 23079138, 24926462	Exon 14	Yes
PHEX_1178	c.1530C>T	p.Arg510=	PHEX	SNV	Silent	Pathogenic	<5		35831717	Exon 14	No
PHEX_0469	c.1531A>T	p.Lys511*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 14	Yes
PHEX_1179	c.1532A>C	p.Lys511Thr	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 14	Yes
PHEX_0467	c.1532del	p.Lys511Serfs*3	PHEX	Deletion	Frameshift	Pathogenic	5-10	Lower limb deformities, Null, Tooth abscesses and/or excessive dental caries	11502829, 16636593, 18625346	Exon 14	No
PHEX_0471	c.1535del	p.Tyr512Phefs*2	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 14	Yes
PHEX_0865	c.1540G>C	p.Ala514Pro	PHEX	SNV	Missense	Pathogenic	<5		32329911	Exon 14	No
PHEX_0472	c.1543C>T	p.Gln515*	PHEX	SNV	Nonsense	Pathogenic	11-20	"Abnormal bone development, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Osteoporosis, Pain (Site Not Specified), Reduced_serum_phosphate, Reduced_tmp/gfr_(	21902834, 23079138, 24926462, 26377240, 31927522	Exon 14	Yes
PHEX_0866	c.1543del	p.Gln515Serfs*7	PHEX	Deletion	Frameshift	Pathogenic	<5		32329911	Exon 14	No
PHEX_0867	c.1543_1544del	p.Gln515Valfs*2	PHEX	Deletion	Frameshift	Pathogenic	<5		33639975	Exon 14	Yes
PHEX_0473	c.1553del	p.Phe518Serfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5		25060345	Exon 14	No
PHEX_1180	c.1559G>A	p.Trp520*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 14	Yes
PHEX_0474	c.1560del	p.Trp520Cysfs*2	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 23079138, 24926462, 9199930	Exon 14	Yes
PHEX_0868	c.1566_1570del	p.Arg522Serfs*58	PHEX	Deletion	Frameshift	Pathogenic	<5		32619592	Exon 14	No
PHEX_0475	c.1572dup	p.Val525Argfs*57	PHEX	Duplication	Frameshift	Pathogenic	<5		16636593, 9199930	Exon 14	Yes
PHEX_1058	c.1585_1586del	p.Glu529Valfs*52	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 14	No
PHEX_0484	c.1586_1586+1del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Bushy eyebrows, Central corneal opacity with iridotomy in eyes, Esotropia, Everted left foot, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Hearing abnormalities, Lower limb deformities, Null, Osteoporosis, Other musculoskeletal abnormalities, Pes planus, Reduced_serum_phosphate, Short stature, Synorphis, Telecanthus, Tooth abscesses and/or excessive dental caries, Vision, Еnlаrgеd wriѕt аnd сurvеd lоwеr limbѕ"	19219621, 19429806, 23079138, 24229582, 24926462, 27840894, 30599486, 34141703, 35384411, 36692815	Exon 14, Intron 14	Yes
PHEX_0479	c.1586+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Protruding forehead, Short stature, Trigonocephaly"	26051471, 28506344, 29505567, 31102713	Intron 14	Yes
PHEX_0481	c.1586+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 14	Yes
PHEX_0477	c.1586+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		32253725	Intron 14	Yes
PHEX_0483	c.1586+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 14	Yes
PHEX_0482	c.1586+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		29505567	Intron 14	Yes
PHEX_0870	c.1586+3G>T	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5		34141703, 36060934	Intron 14	Yes
PHEX_0480	c.1586+3_1586+6del	Intronic	PHEX	Deletion	Splice region	Pathogenic	11-20	Abnormal bone development, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature	10439971, 11502829, 18625346, 19219621, 22695891, 24926462, 32329911, 9106524	Intron 14	Yes
PHEX_0869	c.1586+5G>A	Intronic	PHEX	SNV	Splice region	Pathogenic	<5			Intron 14	Yes
PHEX_0478	c.1586+6T>C	Intronic	PHEX	SNV	Splice region	Pathogenic	<5		18625346, 20157195, 31102713	Intron 14	No
PHEX_0871	c.1586+6T>A	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		21885902	Intron 14	No
PHEX_1059	c.1587-46C>T	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		24857004	Intron 14	No
PHEX_0488	c.1587-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Reduced_tmp/gfr_(		Intron 14	Yes
PHEX_0489	c.1587-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	Null	22695891, 28506344, 31903094	Intron 14	No
PHEX_0872	c.1589G>A	p.Trp530*	PHEX	SNV	Nonsense	Pathogenic	<5		34141703	Exon 15	Yes
PHEX_0491	c.1590G>A	p.Trp530*	PHEX	SNV	Nonsense	Pathogenic	<5		16636593, 9768674	Exon 15	Yes
PHEX_1060	c.1590del	p.Trp530Cysfs*40	PHEX	Deletion	Frameshift	Pathogenic	<5		32253725	Exon 15	Yes
PHEX_0490	c.1590G>C	p.Trp530Cys	PHEX	SNV	Missense	Likely Pathogenic	<5		10439971, 16636593	Exon 15	Yes
PHEX_1181	c.1590_1592delinsTC	p.Trp530Cysfs*40	PHEX	Delins	Frameshift	Pathogenic	<5			Exon 15	No
PHEX_0492	c.1593dup	p.Thr532Tyrfs*50	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 15	Yes
PHEX_0494	c.1600C>A	p.Pro534Thr	PHEX	SNV	Missense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature	22577109, 28383812	Exon 15	Yes
PHEX_0493	c.1600C>T	p.Pro534Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		28383812, 29460029	Exon 15	No
PHEX_0495	c.1601C>T	p.Pro534Leu	PHEX	SNV	Missense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Deformities in flexion of the distal diaphyses/radii/ulnas/tibias, Dorsal column deterioration, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Genu varum. abnormal bone development, Increased lumbar lordosis, Kidney disease, Lower limb deformities, Null, Other musculoskeletal abnormalities, Patellar subluxations, Poor definition of bone contours, Reduced_serum_phosphate, Reduced_tmp/gfr_(	10439971, 10874297, 10894185, 11502829, 15057978, 16055933, 16636593, 17467977, 18162710, 19219621, 20688626, 21050253, 21604088, 22101457, 22261628, 22695891, 22713460, 23079138, 23813354, 24660072, 24926462, 25042154, 25894638, 27840894, 29460029, 29505567, 29707405, 30599486, 30682568, 32104046, 32253725, 32329911, 33639975, 33783172, 34141703, 34333162, 35123515, 35738466, 36060934, 9097956, 9199930, 9768674	Exon 15	Yes
PHEX_1061	c.1604C>T	p.Thr535Met	PHEX	SNV	Missense	Likely Pathogenic	<5		33888711	Exon 15	Yes
PHEX_0496	c.1605_1607del	p.Thr536del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		19513579	Exon 15	No
PHEX_1062	c.1621T>G	p.Tyr541Asp	PHEX	SNV	Missense	Pathogenic	<5			Exon 15	Yes
PHEX_0498	c.1639C>T	p.Gln547*	PHEX	SNV	Nonsense	Pathogenic	<5		21902834, 23079138, 24926462	Exon 15	No
PHEX_0873	c.1640A>C	p.Gln547Pro	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 15	Yes
PHEX_0874	c.1643T>C	p.Ile548Thr	PHEX	SNV	Missense	Likely Pathogenic	5-10	"Lower limb deformities, Mute plantar response, Null, Pain (Site Not Specified), Protrusion of cervical disc at c5‑c6 and opll with significant cord compression, Reduced_serum_phosphate, Sensory loss below the neck, Short stature, Spastic paraplegia, Tooth abscesses and/or excessive dental caries"	25237965, 36060934	Exon 15	Yes
PHEX_0505	c.1645C>T	p.Arg549*	PHEX	SNV	Nonsense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Delayed and disproportionate growth, Fractures/pseudo-fractures, Gait abnormalities, Hearing abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	15057978, 16636593, 19219621, 21902834, 23079138, 24836714, 24926462, 25894638, 26051471, 29460029, 29505567, 29901142, 31102713, 34141703, 36051396, 36531500, 9097956	Exon 15	Yes
PHEX_0506	c.1645+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 15	Yes
PHEX_0503	c.1645+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bone density abnormalities, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Lumbar hyperlordosis, Null, Phosphaturnia but no glycosuria or proteinuria, Reduced_serum_phosphate, Reduced_tmp/gfr_(	10439971, 11502829, 15057978, 16636593, 18625346, 19219621, 21902834, 22101457, 22695891, 23079138, 24102521, 24857004, 24926462, 25086671, 30682568, 31102713, 32329911, 32619592, 33295632, 33639975, 33666701, 34141703, 34333162, 35006361, 36060934, 36695943	Intron 15	Yes
PHEX_0500	c.1645+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 15	Yes
PHEX_0504	c.1645+4A>G	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		30682568	Intron 15	Yes
PHEX_1063	c.1645+4A>C	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5			Intron 15	Yes
PHEX_1182	c.1645+4A>T	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5		35006361	Intron 15	No
PHEX_0501	c.1645+5G>A	Intronic	PHEX	SNV	Splice region	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	11502829, 16636593, 19219621, 31102713, 33639975, 34141703	Intron 15	Yes
PHEX_0502	c.1645+6T>C	Intronic	PHEX	SNV	Splice region	Pathogenic	<5		18625346, 31102713	Intron 15	No
PHEX_1064	c.1646-1493C>A	Intronic	PHEX	SNV	Intronic	Benign	<5		20672378	Intron 15	No
PHEX_0875	c.1646-46T>C	Intronic	PHEX	SNV	Intronic	Benign	<5		33295632	Intron 15	No
PHEX_0510	c.1646-2A>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		24836714, 28506344, 34141703	Intron 15	No
PHEX_0515	c.1646-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		16261449	Intron 15	Yes
PHEX_0519	c.1646-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 15	Yes
PHEX_0518	c.1646G>C	p.Arg549Pro	PHEX	SNV	Missense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Short stature, Tooth abscesses and/or excessive dental caries"	18625346, 22577109, 25839938	Exon 16	Yes
PHEX_1183	c.1646_1668del	p.Arg549Glnfs*25	PHEX	Deletion	Frameshift	UNKNOWN	<5		9768674	Exon 16	No
PHEX_1065	c.1650_1652delinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTT	p.Phe550Leufs*45	PHEX	Delins	Frameshift	Likely Pathogenic	<5		32253725	Exon 16	No
PHEX_0523	c.1654G>A	p.Ala552Thr	PHEX	SNV	Missense	Uncertain Significance	<5		21902834	Exon 16	No
PHEX_0524	c.1657G>T	p.Gly553*	PHEX	SNV	Nonsense	Pathogenic	<5		26377240	Exon 16	No
PHEX_1184	c.1657G>A	p.Gly553Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		34333162	Exon 16	No
PHEX_0525	c.1658G>A	p.Gly553Glu	PHEX	SNV	Missense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	21050253, 32329911	Exon 16	Yes
PHEX_0526	c.1660G>T	p.Glu554*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 16	Yes
PHEX_1185	c.1661_1726del	p.Glu554_Gly575del	PHEX	Copy Number Loss	Deletion	Likely Pathogenic	<5		35842615	Exon 16-17, Intron 16	No
PHEX_0527	c.1664T>C	p.Leu555Pro	PHEX	SNV	Missense	Pathogenic	11-20	Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Short stature	16636593, 19219621, 9768646	Exon 16	Yes
PHEX_0528	c.1666C>T	p.Gln556*	PHEX	SNV	Nonsense	Pathogenic	<5		31658436, 32253725	Exon 16	Yes
PHEX_0529	c.1670del	p.Lys557Serfs*13	PHEX	Deletion	Frameshift	Pathogenic	<5		29460029	Exon 16	No
PHEX_0530	c.1672C>G	p.Pro558Ala	PHEX	SNV	Missense	Likely Pathogenic	5-10	Null	18046499, 21293852, 23813354, 24857004	Exon 16	No
PHEX_1186	c.1675_1676del	p.Phe559Leufs*22	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 16	Yes
PHEX_0532	c.1681_1682insAlu	p.Phe560fs	PHEX	Alu insertion	Frameshift	Pathogenic	<5			Exon 16	No
PHEX_1066	c.1682G>A	p.Trp561*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 16	Yes
PHEX_0533	c.1683G>A	p.Trp561*	PHEX	SNV	Nonsense	Pathogenic	<5		19219621	Exon 16	No
PHEX_0534	c.1684G>T	p.Gly562*	PHEX	SNV	Nonsense	Pathogenic	<5		15057978	Exon 16	No
PHEX_0536	c.1685del	p.Gly562Glufs*8	PHEX	Deletion	Frameshift	Pathogenic	<5		18625346	Exon 16	No
PHEX_0535	c.1685dup	p.Thr563Asnfs*19	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 16	Yes
PHEX_0537	c.1692del	p.Glu564Aspfs*6	PHEX	Deletion	Frameshift	Pathogenic	5-10	Lower limb deformities, Pain (Site Not Specified), Short stature	31537998	Exon 16	No
PHEX_0522	c.1694del	p.Tyr565Phefs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		24836714, 34141703	Exon 16	No
PHEX_0538	c.1695T>A	p.Tyr565*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 16	Yes
PHEX_0539	c.1699C>T	p.Arg567*	PHEX	SNV	Nonsense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Difficulty walking, Fractures/pseudo-fractures, Gait abnormalities, Impaired physical mobility, Lower limb deformities, Null, Other musculoskeletal abnormalities, Pain (Site Not Specified), Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries, X-shaped legs"	16303832, 18162710, 18625346, 19219621, 21050253, 21293852, 21994957, 22101457, 22261628, 24229582, 24857004, 25894638, 29460029, 29901142, 30599486, 32253725, 32329911, 33639975, 34141703, 34333162, 35842615, 36060934	Exon 16	Yes
PHEX_0544	c.1700G>C	p.Arg567Pro	PHEX	SNV	Missense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature	16636593, 21994957	Exon 16	Yes
PHEX_0543	c.1700+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 16	Yes
PHEX_0542	c.1700+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries"		Intron 16	Yes
PHEX_0545	c.1700+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Short stature"	19219621, 34333162	Intron 16	Yes
PHEX_0877	c.1700+2T>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		16636593, 33666701, 35738466, 9199930	Intron 16	Yes
PHEX_0876	c.1700+5G>A	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5			Intron 16	Yes
PHEX_1187	c.1700+5G>C	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5		36060934	Intron 16	Yes
PHEX_0546	c.1701-16T>A	Intronic	PHEX	SNV	Intronic	Pathogenic	5-10	Null	31102713, 31821448, 9097956	Intron 16	No
PHEX_0553	c.1701-2A>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 16	No
PHEX_1188	c.1701-2A>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 16	Yes
PHEX_0550	c.1701-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 16	Yes
PHEX_0548	c.1701-1del	Intronic	PHEX	Deletion	Splice acceptor	Likely Pathogenic	<5			Intron 16	Yes
PHEX_1189	c.1701A>C	p.Arg567=	PHEX	SNV	Silent	Pathogenic	<5		35896147	Exon 17	Yes
PHEX_0554	c.1702T>C	p.Ser568Pro	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 17	Yes
PHEX_0555	c.1705_1706del	p.Leu569Glufs*12	PHEX	Deletion	Frameshift	Pathogenic	<5		21050253	Exon 17	No
PHEX_1190	c.1706T>C	p.Leu569Pro	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 17	Yes
PHEX_0878	c.1706T>G	p.Leu569Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		33639975	Exon 17	Yes
PHEX_0556	c.1708del	p.Ser570Valfs*5	PHEX	Deletion	Frameshift	UNKNOWN	<5			Exon 17	No
PHEX_0879	c.1707_1710dup	p.Tyr571Glufs*12	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 17	Yes
PHEX_1191	c.1709_1712dup	p.Tyr571*	PHEX	Duplication	Nonsense	Pathogenic	<5			Exon 17	Yes
PHEX_0557	c.1713T>G	p.Tyr571*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 17	Yes
PHEX_0558	c.1714G>A	p.Gly572Ser	PHEX	SNV	Missense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature	30238432, 32329911	Exon 17	Yes
PHEX_1192	c.1714G>T	p.Gly572Cys	PHEX	SNV	Missense	Likely Pathogenic	<5		35384411	Exon 17	Yes
PHEX_0559	c.1714G>C	p.Gly572Arg	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 17	No
PHEX_0561	c.1715G>A	p.Gly572Asp	PHEX	SNV	Missense	Pathogenic	11-20	"Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	11502829, 16055933, 16636593, 18162710, 23079138, 24926462, 30599486	Exon 17	Yes
PHEX_0560	c.1715G>T	p.Gly572Val	PHEX	SNV	Missense	Pathogenic	<5		32253725	Exon 17	Yes
PHEX_0562	c.1718C>A	p.Ala573Asp	PHEX	SNV	Missense	Likely Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature"	10439971, 16636593, 23079138, 24926462	Exon 17	Yes
PHEX_1193	c.1718C>T	p.Ala573Val	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 17	Yes
PHEX_0563	c.1721T>A	p.Ile574Lys	PHEX	SNV	Missense	Likely Pathogenic	<5		29393334	Exon 17	Yes
PHEX_0564	c.1723G>A	p.Gly575Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 17	Yes
PHEX_0565	c.1724G>A	p.Gly575Glu	PHEX	SNV	Missense	Pathogenic	5-10	Lower limb deformities, Null, Reduced_serum_phosphate	33049132	Exon 17	Yes
PHEX_0880	c.1723_1727dup	p.Ile577Glufs*2	PHEX	Duplication	Frameshift	Pathogenic	<5		32329911	Exon 17	No
PHEX_0566	c.1727_1738del	p.Val576_His580delinsAsp	PHEX	Deletion	Deletion	Pathogenic	5-10	Lower limb deformities, Null, Short stature	21050253	Exon 17	Yes
PHEX_0567	c.1728_1731dup	p.Val578Asnfs*5	PHEX	Duplication	Frameshift	Pathogenic	<5		22695891	Exon 17	No
PHEX_0568	c.1735G>A	p.Gly579Arg	PHEX	SNV	Missense	Pathogenic	30+	"Abnormal bone development, Bilateral proptosis, Bilateral widening of the optic nerve sheaths, Bone and/or joint pain and/or joint stiffness, Bone deformity, Bone density abnormalities, Bow legs, Fractures/pseudo-fractures, Gait abnormalities, Genu varum, Growth retardation, Hearing abnormalities, Kidney disease, Lacunar lesions, Lower limb deformities, Narrow biparietal diameter, Nervous system, Null, Pain (Site Not Specified), Psychomotor retardation, Reduced_serum_phosphate, Reduced_tmp/gfr_(	10439971, 15057978, 16636593, 18625346, 19219621, 20157195, 20838491, 21293852, 21902834, 22577109, 23079138, 24229582, 24684036, 24857004, 27221261, 27884786, 28163769, 29460029, 32133333, 32253725, 32329911, 33639975, 33796255, 34141703, 34333162, 35331937, 35612621, 35842615, 36051396, 36060934, 9097956, 9199930, 9768674	Exon 17	Yes
PHEX_0570	c.1735G>C	p.Gly579Arg	PHEX	SNV	Missense	Pathogenic	5-10	Null	11468271, 12727977, 24926462, 9199930	Exon 17	Yes
PHEX_0881	c.1735G>T	p.Gly579*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 17	Yes
PHEX_0571	c.1736G>T	p.Gly579Val	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null	10439971, 11502829, 12727977, 16636593, 23079138, 24926462	Exon 17	Yes
PHEX_1195	c.1736G>A	p.Gly579Glu	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 17	Yes
PHEX_0572	c.1738C>G	p.His580Asp	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 17	Yes
PHEX_0573	c.1739A>C	p.His580Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		22101457, 29460029	Exon 17	No
PHEX_1196	c.1741G>T	p.Glu581*	PHEX	SNV	Nonsense	Pathogenic	<5		35384411	Exon 17	Yes
PHEX_0574	c.1742A>T	p.Glu581Val	PHEX	SNV	Missense	Likely Pathogenic	<5		11311133, 11468271, 12727977	Exon 17	No
PHEX_0882	c.1750C>T	p.His584Tyr	PHEX	SNV	Missense	Pathogenic	<5			Exon 17	Yes
PHEX_0575	c.1751A>C	p.His584Pro	PHEX	SNV	Missense	Uncertain Significance	<5		24836714	Exon 17	Yes
PHEX_0883	c.1753G>A	p.Gly585Arg	PHEX	SNV	Missense	Likely Pathogenic	11-20	Lower limb deformities, Reduced_serum_phosphate, Short stature	34333162, 36695943	Exon 17	Yes
PHEX_0576	c.1757T>C	p.Phe586Ser	PHEX	SNV	Missense	Pathogenic	<5		18625346	Exon 17	Yes
PHEX_0577	c.1765_1768del	p.Asn589Valfs*29	PHEX	Deletion	Frameshift	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries"	19219621	Exon 17	Yes
PHEX_1197	c.1766dup	p.Asn589Lysfs*3	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 17	Yes
PHEX_1067	c.1768G>A	p.Gly590Ser	PHEX	SNV	Missense	Pathogenic	<5		35251124	Exon 17	No
PHEX_0578	c.1768+1G>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	Null, Reduced_serum_phosphate	16636593, 18625346, 35738466	Intron 17	Yes
PHEX_0585	c.1768+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Reduced_serum_phosphate	10439971, 16636593, 28383812, 36060934	Intron 17	Yes
PHEX_0579	c.1768+1del	Intronic	PHEX	Deletion	Splice donor	Likely Pathogenic	<5			Intron 17	Yes
PHEX_1068	c.1768+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		34141703	Intron 17	Yes
PHEX_1069	c.1768+2T>C	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		32253725	Intron 17	No
PHEX_0584	c.1768+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		35384411	Intron 17	Yes
PHEX_0586	c.1768+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		24836714, 31102713, 32257293, 33666701, 34141703	Intron 17	Yes
PHEX_0581	c.1768+2dup	Intronic	PHEX	Duplication	Splice region	Pathogenic	<5		19219621	Intron 17	Yes
PHEX_0580	c.1768+3_1768+4insT	Intronic	PHEX	Insertion	Splice region	Uncertain Significance	<5		15057978	Intron 17	No
PHEX_0583	c.1768+4_1768+7del	Intronic	PHEX	Deletion	Splice region	Uncertain Significance	<5			Intron 17	Yes
PHEX_0588	c.1768+5G>A	Intronic	PHEX	SNV	Splice region	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate	15057978, 18162710, 23079138, 24926462, 31102713	Intron 17	Yes
PHEX_0587	c.1768+177_1768+180dup	Intronic	PHEX	Duplication	Intronic	Uncertain Significance	<5		21902834, 24926462	Intron 17	No
PHEX_0885	c.1769-10C>T	Intronic	PHEX	SNV	Intronic	Benign	<5		19219621, 24489884, 33295632, 34141703	Intron 17	Yes
PHEX_0884	c.1769-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 17	Yes
PHEX_0886	c.1769-2del	Intronic	PHEX	Deletion	Splice acceptor	Pathogenic	<5		32257293, 34333162	Intron 17	No
PHEX_0591	c.1769-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		26559751, 30599486, 34333162	Intron 17	Yes
PHEX_0589	c.1769-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Short stature	21050253, 31102713	Intron 17	Yes
PHEX_1200	c.1777dup	p.Tyr593Leufs*2	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0592	c.1775_1778dup	p.Tyr593*	PHEX	Duplication	Nonsense	Pathogenic	<5		29460029	Exon 18	Yes
PHEX_1199	c.1776_1778dup	p.Tyr593*	PHEX	Duplication	Nonsense	Pathogenic	<5			Exon 18	Yes
PHEX_0593	c.1779T>A	p.Tyr593*	PHEX	SNV	Nonsense	Pathogenic	<5		19219621, 32253725	Exon 18	Yes
PHEX_0595	c.1779T>G	p.Tyr593*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 18	Yes
PHEX_0594	c.1779_1782dup	p.Lys595*	PHEX	Duplication	Nonsense	Pathogenic	5-10	Abnormal bone development, Lower limb deformities	19219621, 32329911	Exon 18	Yes
PHEX_1112	c.1783A>T	p.Lys595*	PHEX	SNV	Nonsense	Pathogenic	<5		33796255, 36051396	Exon 18	No
PHEX_0597	c.1783_1784insTGAT	p.Lys595Metfs*13	PHEX	Insertion	Frameshift	Pathogenic	<5		16636593, 23813354, 9199930	Exon 18	No
PHEX_1070	c.1769-6_1784dup	Intronic	PHEX	Duplication	Nonsense	Uncertain Significance	<5			Exon 18	Yes
PHEX_0598	c.1787dup	p.Asn596Lysfs*11	PHEX	Duplication	Frameshift	Pathogenic	<5		16636593	Exon 18	Yes
PHEX_0599	c.1789G>T	p.Gly597*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 18	Yes
PHEX_0600	c.1800dup	p.Pro601Serfs*6	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0602	c.1802del	p.Pro601Leufs*18	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593	Exon 18	No
PHEX_0603	c.1805G>A	p.Trp602*	PHEX	SNV	Nonsense	Pathogenic	<5		25983897	Exon 18	Yes
PHEX_0606	c.1806G>A	p.Trp602*	PHEX	SNV	Nonsense	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Short stature	19219621, 19513579, 28383812, 34141703	Exon 18	Yes
PHEX_0604	c.1806del	p.Trp602Cysfs*17	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0605	c.1806dup	p.Trp603Valfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0607	c.1809G>A	p.Trp603*	PHEX	SNV	Nonsense	Pathogenic	5-10	Gait abnormalities, Lower limb deformities, Null, Short stature	18046499, 19513579, 21293852, 23813354, 24857004	Exon 18	Yes
PHEX_1201	c.1809G>C	p.Trp603Cys	PHEX	SNV	Missense	UNKNOWN	<5		18046499	Exon 18	No
PHEX_0608	c.1809_1816del	p.Trp603*	PHEX	Deletion	Nonsense	Pathogenic	<5		16636593, 18625346	Exon 18	No
PHEX_0887	c.1812del	p.Thr605Leufs*14	PHEX	Deletion	Frameshift	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Reduced_serum_phosphate, Reduced_tmp/gfr_(		Exon 18	Yes
PHEX_0609	c.1818_1821dup	p.Glu608Ilefs*6	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_1202	c.1822_1823del	p.Glu608Argfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0611	c.1825G>T	p.Glu609*	PHEX	SNV	Nonsense	Pathogenic	<5		21902834, 23079138, 24926462	Exon 18	Yes
PHEX_1203	c.1824_1825dup	p.Lys610Argfs*4	PHEX	Duplication	Frameshift	UNKNOWN	<5			Exon 18	No
PHEX_0612	c.1826_1830del	p.Glu609Valfs*2	PHEX	Deletion	Frameshift	Pathogenic	5-10	Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	16636593, 21293852, 24857004	Exon 18	Yes
PHEX_0610	c.1825_1828dup	p.Lys610Argfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5		32329911	Exon 18	No
PHEX_0613	c.1828_1829dup	p.Phe611Serfs*9	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0615	c.1830del	p.Lys610Asnfs*9	PHEX	Deletion	Frameshift	Pathogenic	<5		22101457, 29460029	Exon 18	No
PHEX_0616	c.1832_1833del	p.Phe611*	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 9199930	Exon 18	Yes
PHEX_0614	c.1828_1832dup	p.Phe611Leufs*10	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_1204	c.1843A>C	p.Thr615Pro	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 18	Yes
PHEX_0617	c.1843del	p.Thr615Glnfs*4	PHEX	Deletion	Frameshift	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Null, Reduced_serum_phosphate	21293852, 23813354, 24857004	Exon 18	Yes
PHEX_0618	c.1843dup	p.Thr615Asnfs*6	PHEX	Duplication	Frameshift	Pathogenic	5-10	" difficulty walking, Abnormal bone development, Deformities of the long bones, Lower limb deformities, Short stature, Tooth abscesses and/or excessive dental caries"	19219621, 27840894, 34141703	Exon 18	Yes
PHEX_0889	c.1844_1845del	p.Thr615Lysfs*5	PHEX	Deletion	Frameshift	Pathogenic	<5		32329911	Exon 18	No
PHEX_1071	c.1844_1845dup	p.Lys616Glnfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5		30406928	Exon 18	No
PHEX_0620	c.1844_1847dup	p.Lys616Asnfs*6	PHEX	Duplication	Frameshift	Pathogenic	<5		21050253, 32253725	Exon 18	Yes
PHEX_0622	c.1847_1848del	p.Lys616Metfs*4	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0623	c.1848del	p.Lys616Asnfs*3	PHEX	Deletion	Frameshift	Pathogenic	11-20	Null, Reduced_serum_phosphate	18625346, 20157195	Exon 18	Yes
PHEX_0624	c.1848dup	p.Cys617Metfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5		16636593	Exon 18	No
PHEX_0625	c.1850G>T	p.Cys617Phe	PHEX	SNV	Missense	Likely Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Short stature		Exon 18	Yes
PHEX_1205	c.1851_1854dup	p.Ile619Hisfs*3	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0626	c.1854_1857dup	p.Asn620Aspfs*2	PHEX	Duplication	Frameshift	Pathogenic	<5		19219621	Exon 18	Yes
PHEX_0628	c.1861C>T	p.Gln621*	PHEX	SNV	Nonsense	Pathogenic	<5		22101457, 22913777, 24857004	Exon 18	Yes
PHEX_0629	c.1862A>G	p.Gln621Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		16636593, 21604088, 9768674	Exon 18	No
PHEX_1206	c.1862A>C	p.Gln621Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		34523743	Exon 18	Yes
PHEX_0630	c.1859_1862dup	p.Tyr622Profs*3	PHEX	Duplication	Frameshift	Pathogenic	<5		26051471	Exon 18	Yes
PHEX_1113	c.1863_1870del	p.Tyr622Leufs*22	PHEX	Deletion	Frameshift	Pathogenic	<5		34141703	Exon 18	No
PHEX_1072	c.1864T>C	p.Tyr622His	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 18	Yes
PHEX_0632	c.1875T>G	p.Tyr625*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 18	Yes
PHEX_0631	c.1874_1875dup	p.Tyr626Ilefs*8	PHEX	Duplication	Frameshift	Pathogenic	<5		29460029	Exon 18	No
PHEX_0890	c.1873_1876dup	p.Tyr626Leufs*22	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_0633	c.1880G>A	p.Trp627*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 18	Yes
PHEX_0634	c.1881G>A	p.Trp627*	PHEX	SNV	Nonsense	Pathogenic	<5		15057978, 16636593	Exon 18	Yes
PHEX_0891	c.1875_1882dup	p.Lys628Ilefs*8	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_1073	c.1885_1888dup	p.Ala630Glufs*18	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 18	Yes
PHEX_1208	c.1895T>A	p.Leu632*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 18	Yes
PHEX_1074	c.1895_1899+18del	p.?	PHEX	Deletion	Splice donor	Pathogenic	<5		19219621	Exon 18, Intron 18	No
PHEX_0639	c.1899+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		21050253, 31102713	Intron 18	No
PHEX_0638	c.1899+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		19219621	Intron 18	Yes
PHEX_0637	c.1899+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		21293852, 24857004, 31102713	Intron 18	No
PHEX_0636	c.1899+3G>C	Intronic	PHEX	SNV	Splice region	Uncertain Significance	<5			Intron 18	Yes
PHEX_0640	c.1899+5G>A	Intronic	PHEX	SNV	Splice region	Pathogenic	<5		19219621, 31102713	Intron 18	No
PHEX_1075	c.1900-29_1900-28insATT	Intronic	PHEX	Insertion	Intronic	Uncertain Significance	<5		19219621	Intron 18	No
PHEX_0642	c.1900-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		16261449	Intron 18	Yes
PHEX_0644	c.1919T>C	p.Leu640Pro	PHEX	SNV	Missense	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null	19219621, 33666701	Exon 19	Yes
PHEX_1209	c.1920_1929del	p.Gly641Leufs*18	PHEX	Deletion	Frameshift	Pathogenic	<5		35738466	Exon 19	Yes
PHEX_0893	c.1921G>T	p.Gly641*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 19	Yes
PHEX_1210	c.1924G>T	p.Glu642*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 19	Yes
PHEX_0647	c.1929del	p.Asn643Lysfs*19	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593	Exon 19	No
PHEX_0646	c.1927_1930dup	p.Ile644Lysfs*4	PHEX	Duplication	Frameshift	Pathogenic	<5		19219621	Exon 19	No
PHEX_0648	c.1933G>A	p.Ala645Thr	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 19	Yes
PHEX_0894	c.1936del	p.Asp646Ilefs*16	PHEX	Deletion	Frameshift	Pathogenic	<5		33639975	Exon 19	No
PHEX_0650	c.1936G>A	p.Asp646Asn	PHEX	SNV	Missense	Likely Pathogenic	<5		21050253	Exon 19	No
PHEX_0654	c.1936G>T	p.Asp646Tyr	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 19	Yes
PHEX_0653	c.1936G>C	p.Asp646His	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 19	Yes
PHEX_0652	c.1936_1938del	p.Asp646del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		21902834, 23079138, 24926462	Exon 19	No
PHEX_1076	c.1937A>G	p.Asp646Gly	PHEX	SNV	Missense	Pathogenic	<5			Exon 19	Yes
PHEX_0649	c.1935_1938dup	p.Asn647*	PHEX	Duplication	Nonsense	Pathogenic	5-10	Fractures/pseudo-fractures, Gait abnormalities, Short stature, Tooth abscesses and/or excessive dental caries		Exon 19	Yes
PHEX_0651	c.1936_1939dup	p.Asn647Argfs*2	PHEX	Duplication	Nonsense	Pathogenic	5-10	Lower limb deformities, Null	11502829, 16636593	Exon 19	Yes
PHEX_0657	c.1942G>C	p.Gly648Arg	PHEX	SNV	Missense	Uncertain Significance	<5		34333162	Exon 19	No
PHEX_0659	c.1942G>T	p.Gly648*	PHEX	SNV	Nonsense	Pathogenic	<5		26051471	Exon 19	Yes
PHEX_0658	c.1942G>A	p.Gly648Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 19	Yes
PHEX_0660	c.1946G>A	p.Gly649Asp	PHEX	SNV	Missense	Likely Pathogenic	<5		22577109, 23312231	Exon 19	Yes
PHEX_1211	c.1946_1954del	p.Gly649_Arg651del	PHEX	Deletion	Deletion	Pathogenic	<5		36482408	Exon 19	Yes
PHEX_0896	c.1949T>C	p.Leu650Pro	PHEX	SNV	Missense	Uncertain Significance	<5		32252220, 34011663	Exon 19	Yes
PHEX_1077	c.1951del	p.Arg651Glyfs*11	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 19	Yes
PHEX_0662	c.1952G>C	p.Arg651Pro	PHEX	SNV	Missense	Pathogenic	11-20	Abnormal bone development, Arthritis, Genu varum, Hip dysplasia, Lower limb deformities, Null, Short stature	10439971, 10874297, 16636593, 21553362, 21902834, 23079138, 24926462, 25894638, 32329911, 33639975, 9199930	Exon 19	Yes
PHEX_0661	c.1954_1965del	p.Glu652_Arg655del	PHEX	Deletion	Deletion	Likely Pathogenic	<5		16055933, 16636593, 18162710	Exon 19	No
PHEX_0663	c.1956_1957insGCTTGGGAA	p.Ala653_Phe654insTrpGluAla	PHEX	Duplication	Insertion	Likely Pathogenic	<5		19219621	Exon 19	No
PHEX_1212	c.1957G>C	p.Ala653Pro	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 19	Yes
PHEX_0664	c.1958C>A	p.Ala653Asp	PHEX	SNV	Missense	Uncertain Significance	5-10	Null, Reduced_serum_phosphate	22101457, 29460029, 33049132, 34333162	Exon 19	Yes
PHEX_0665	c.1960T>A	p.Phe654Ile	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 19	Yes
PHEX_0897	c.1961T>C	p.Phe654Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		33639975	Exon 19	No
PHEX_0898	c.1962dup	p.Arg655*	PHEX	Duplication	Frameshift	Pathogenic	<5		32329911	Exon 19	No
PHEX_1213	c.1965del	p.Ala656Leufs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		35738466	Exon 19	Yes
PHEX_0667	c.1965+1G>T	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		25115781	Intron 19	No
PHEX_0668	c.1965+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	11-20	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, O-shaped legs, Short stature, Tooth abscesses and/or excessive dental caries"	10439971, 16636593, 18162710, 19219621, 21902834, 23079138, 24926462, 29460029, 30599486, 35842615, 9097956	Intron 19	Yes
PHEX_1216	c.1966-2A>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 19	Yes
PHEX_1217	c.1966-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 19	Yes
PHEX_1215	c.1966-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		36060934	Intron 19	Yes
PHEX_1214	c.1966-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		35738466	Intron 19	Yes
PHEX_0670	c.1966-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		34141703	Intron 19	Yes
PHEX_1219	c.1967C>A	p.Ala656Asp	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 20	Yes
PHEX_0671	c.1967_2025del	p.Ala656Aspfs*41	PHEX	Deletion	Frameshift	Pathogenic	<5		25086671	Exon 20	No
PHEX_1220	c.1969T>C	p.Tyr657His	PHEX	SNV	Missense	Pathogenic	<5			Exon 20	Yes
PHEX_0669	c.1966_1969dup	p.Tyr657Cysfs*8	PHEX	Duplication	Frameshift	Pathogenic	<5		21050253	Exon 20	Yes
PHEX_0673	c.1970A>G	p.Tyr657Cys	PHEX	SNV	Missense	Pathogenic	<5		19219621, 29707405, 35738466	Exon 20	Yes
PHEX_0900	c.1971C>G	p.Tyr657*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 20	Yes
PHEX_0675	c.1978_1988del	p.Trp660Glnfs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		29460029	Exon 20	No
PHEX_0676	c.1979G>A	p.Trp660*	PHEX	SNV	Nonsense	Pathogenic	5-10	Abnormal bone development, Null, Reduced_serum_phosphate, Short stature	16636593, 29707405, 35738466, 9199930	Exon 20	Yes
PHEX_0677	c.1980G>A	p.Trp660*	PHEX	SNV	Nonsense	Pathogenic	<5		24836714, 34141703	Exon 20	No
PHEX_0674	c.1973_1984dup	p.Arg658_Ile661dup	PHEX	Duplication	Insertion	Uncertain Significance	<5			Exon 20	Yes
PHEX_1078	c.1985del	p.Asn662Metfs*25	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_1221	c.1985_1986insTGAC	p.Arg664*	PHEX	Duplication	Frameshift	Pathogenic	<5		36060934	Exon 20	Yes
PHEX_0904	c.1986_1987insTGAC	p.Asp663*	PHEX	Insertion	Nonsense	Pathogenic	<5		10439971, 16636593, 23079138, 24926462	Exon 20	No
PHEX_0902	c.1982_1986dup	p.Asp663*	PHEX	Duplication	Nonsense	Pathogenic	<5			Exon 20	Yes
PHEX_0903	c.1986_1989dup	p.Arg664*	PHEX	Duplication	Nonsense	Pathogenic	<5		32329911	Exon 20	Yes
PHEX_0678	c.1989_1990del	p.Asp663Glufs*6	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 20	Yes
PHEX_0680	c.1991_1992insTGAC	p.Arg664Serfs*7	PHEX	Insertion	Frameshift	Pathogenic	5-10	Null	15057978, 16636593, 23079138, 24926462, 9199930	Exon 20	No
PHEX_0681	c.1993del	p.Arg665Glyfs*22	PHEX	Deletion	Frameshift	Pathogenic	<5		11502829, 16636593	Exon 20	No
PHEX_0901	c.1979_1995dup	p.Gln666Glyfs*2	PHEX	Duplication	Nonsense	Pathogenic	<5		32329911	Exon 20	No
PHEX_0682	c.1996_2008del	p.Gln666Serfs*17	PHEX	Deletion	Frameshift	Pathogenic	<5		16055933, 16636593, 18162710	Exon 20	No
PHEX_0683	c.1999G>T	p.Gly667*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 20	Yes
PHEX_0684	c.2000del	p.Gly667Aspfs*20	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0685	c.2004_2018del	p.Glu669_Leu673del	PHEX	Deletion	Deletion	Uncertain Significance	<5			Exon 20	No
PHEX_0905	c.2005_2016del	p.Glu669_Leu672del	PHEX	Deletion	Deletion	Uncertain Significance	<5			Exon 20	Yes
PHEX_1218	c.1966-8_2006dup	Intronic	PHEX	Duplication	Nonsense	Uncertain Significance	<5			Exon 20	Yes
PHEX_1079	c.2002_2006dup	p.Glu669Aspfs*20	PHEX	Duplication	Frameshift	Pathogenic	<5		32253725, 34141703	Exon 20	Yes
PHEX_0687	c.2008G>A	p.Glu670Lys	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 20	Yes
PHEX_0686	c.2008del	p.Glu670Serfs*17	PHEX	Deletion	Frameshift	Pathogenic	<5		22695891	Exon 20	No
PHEX_0688	c.2009A>T	p.Glu670Val	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 20	Yes
PHEX_1081	c.2011C>A	p.Pro671Thr	PHEX	SNV	Missense	Uncertain Significance	<5		34141703	Exon 20	No
PHEX_1080	c.2011_2045del	p.Pro671Alafs*34	PHEX	Deletion	Frameshift	Pathogenic	<5		33666701	Exon 20	Yes
PHEX_0689	c.2012del	p.Pro671Leufs*16	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0690	c.2018T>G	p.Leu673Arg	PHEX	SNV	Missense	Pathogenic	<5		29460029	Exon 20	Yes
PHEX_0691	c.2018_2036del	p.Leu673Profs*8	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 20	No
PHEX_0692	c.2021del	p.Pro674Glnfs*13	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_1148	c.2021C>A	p.Pro674Gln	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 20	Yes
PHEX_0693	c.2022del	p.Gly675Alafs*12	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0695	c.2030_2031dup	p.Phe678Hisfs*10	PHEX	Duplication	Frameshift	Pathogenic	<5		20157195	Exon 20	Yes
PHEX_0694	c.2028_2032dup	p.Phe678Serfs*11	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0696	c.2033dup	p.Thr679Hisfs*38	PHEX	Duplication	Frameshift	Pathogenic	<5		22713460, 23813354, 24857004, 34141703	Exon 20	No
PHEX_1225	c.2025_2034dup	p.Thr679Hisfs*41	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0698	c.2040C>G	p.Asn680Lys	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 20	No
PHEX_0697	c.2040C>A	p.Asn680Lys	PHEX	SNV	Missense	Uncertain Significance	<5		16636593	Exon 20	Yes
PHEX_0699	c.2040_2041del	p.Asn680Lysfs*36	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 20	No
PHEX_1082	c.2039_2042dup	p.Asn681Lysfs*37	PHEX	Duplication	Frameshift	Pathogenic	<5		34141703	Exon 20	Yes
PHEX_0701	c.2044C>T	p.Gln682*	PHEX	SNV	Nonsense	Pathogenic	<5		15057978	Exon 20	Yes
PHEX_1226	c.2045A>T	p.Gln682Leu	PHEX	SNV	Missense	Likely Pathogenic	<5		36060934	Exon 20	No
PHEX_0906	c.2048T>A	p.Leu683His	PHEX	SNV	Missense	Likely Pathogenic	<5		29707405, 35738466	Exon 20	Yes
PHEX_0702	c.2048T>C	p.Leu683Pro	PHEX	SNV	Missense	Likely Pathogenic	<5		24229582, 24857004	Exon 20	No
PHEX_0907	c.2050_2055del	p.Phe684_Phe685del	PHEX	Deletion	Deletion	Uncertain Significance	<5			Exon 20	Yes
PHEX_0703	c.2051T>G	p.Phe684Cys	PHEX	SNV	Missense	Likely Pathogenic	<5		22577109	Exon 20	No
PHEX_0704	c.2053_2055del	p.Phe685del	PHEX	Deletion	Deletion	Uncertain Significance	<5			Exon 20	Yes
PHEX_1083	c.2054_2057delinsA	p.Phe685*	PHEX	Delins	Nonsense	Pathogenic	<5		34141703	Exon 20	No
PHEX_0706	c.2057T>A	p.Leu686Gln	PHEX	SNV	Missense	Likely Pathogenic	<5		33049132	Exon 20	No
PHEX_0707	c.2057T>C	p.Leu686Pro	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 20	Yes
PHEX_1227	c.2059A>C	p.Ser687Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 20	Yes
PHEX_0709	c.2061T>G	p.Ser687Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 20	Yes
PHEX_0908	c.2058_2061dup	p.Tyr688Glufs*30	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0708	c.2060_2063dup	p.Tyr688*	PHEX	Duplication	Nonsense	Pathogenic	11-20	" vаruѕ lоwеr limbѕ, Abnormal bone development, Digitifоrm imаgеѕ in thе ѕkull, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Аnd dеfоrmity оf lоng bоnеѕ, Еnlаrgеmеnt, Меtарhyѕеаl irrеgulаrity in ѕuреriоr аnd lоwеr limbѕ"	19219621, 33666701, 34333162, 35384411	Exon 20	Yes
PHEX_0710	c.2063_2070+2del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5			Exon 20, Intron 20	No
PHEX_1114	c.2064T>G	p.Tyr688*	PHEX	SNV	Nonsense	Conflict	<5		32253725	Exon 20	No
PHEX_0712	c.2064T>A	p.Tyr688*	PHEX	SNV	Nonsense	Pathogenic	5-10	Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Null	10439971, 16636593, 23079138, 24926462	Exon 20	Yes
PHEX_0713	c.2065G>C	p.Ala689Pro	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 20	Yes
PHEX_0714	c.2066C>T	p.Ala689Val	PHEX	SNV	Missense	Likely Pathogenic	<5		26561226	Exon 20	No
PHEX_0715	c.2066C>A	p.Ala689Asp	PHEX	SNV	Missense	Likely Pathogenic	<5		22101457, 29460029	Exon 20	No
PHEX_0909	c.2067_2068dup	p.His690Leufs*3	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 20	Yes
PHEX_0718	c.2070+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Short stature		Intron 20	Yes
PHEX_0716	c.2070+1G>T	Intronic	PHEX	SNV	Splice donor	Likely Pathogenic	<5			Intron 20	Yes
PHEX_0910	c.2070+2T>G	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		32329911	Intron 20	No
PHEX_0717	c.2070+5G>C	Intronic	PHEX	SNV	Splice region	Pathogenic	<5			Intron 20	Yes
PHEX_0724	c.2071-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature	12414858, 16261449, 16636593, 22577109, 22695891	Intron 20	Yes
PHEX_0722	c.2071-2A>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		10439971, 19219621, 34141703	Intron 20	Yes
PHEX_0912	c.2071-2_2072del	Intronic	PHEX	Deletion	Splice acceptor	Pathogenic	<5			Exon 21, Intron 20	Yes
PHEX_1084	c.2071-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 20	Yes
PHEX_0726	c.2071-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		22913777, 24229582	Intron 20	Yes
PHEX_0723	c.2071-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	5-10	Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries	12414858, 15057978, 16636593	Intron 20	Yes
PHEX_0728	c.2074_2082del	p.Arg692_Asn694del	PHEX	Deletion	Deletion	UNKNOWN	<5		9768674	Exon 21	No
PHEX_0731	c.2077T>C	p.Cys693Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 21	Yes
PHEX_0730	c.2077T>A	p.Cys693Ser	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 21	Yes
PHEX_0729	c.2077_*4delinsA	p.Trp693delins	PHEX	Delins	Deletion	Likely Pathogenic	<5		24836714	Exon 21-22, Intron 21	No
PHEX_0733	c.2078G>A	p.Cys693Tyr	PHEX	SNV	Missense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Phosphaturnia but no glycosuria or proteinuria, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	16636593, 23079138, 24229582, 24857004, 30682568, 35006361	Exon 21	Yes
PHEX_1085	c.2078G>C	p.Cys693Ser	PHEX	SNV	Missense	Pathogenic	<5			Exon 21	Yes
PHEX_0732	c.2078G>T	p.Cys693Phe	PHEX	SNV	Missense	Pathogenic	<5		23079138, 24926462	Exon 21	No
PHEX_1229	c.2079C>G	p.Cys693Trp	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 21	Yes
PHEX_0734	c.2083del	p.Ser695Profs*45	PHEX	Deletion	Frameshift	Likely Pathogenic	<5			Exon 21	Yes
PHEX_0735	c.2085del	p.Tyr696Thrfs*44	PHEX	Deletion	Frameshift	Likely Pathogenic	<5			Exon 21	Yes
PHEX_0914	c.2088C>A	p.Tyr696*	PHEX	SNV	Nonsense	Pathogenic	<5		32329911	Exon 21	No
PHEX_0736	c.2090_2091del	p.Arg697Thrfs*19	PHEX	Deletion	Frameshift	Pathogenic	5-10	Null	16636593, 23079138, 23813354, 24857004, 24926462	Exon 21	No
PHEX_0738	c.2089_2092dup	p.Pro698Glnfs*20	PHEX	Duplication	Frameshift	Pathogenic	<5		19219621	Exon 21	No
PHEX_0739	c.2093del	p.Pro698Glnfs*42	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 32329911, 9199930	Exon 21	Yes
PHEX_0740	c.2095G>T	p.Glu699*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 21	Yes
PHEX_0741	c.2099del	p.Ala700Valfs*40	PHEX	Deletion	Frameshift	Pathogenic	<5		16636593, 9768674	Exon 21	Yes
PHEX_0742	c.2100del	p.Ala701Profs*39	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_0743	c.2104C>T	p.Arg702*	PHEX	SNV	Nonsense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Reduced_tmp/gfr_(	10874297, 11502829, 15057978, 16636593, 19219621, 21902834, 21994957, 23079138, 24926462, 25894638, 26377240, 29505567, 32253725, 33107440, 34141703, 34333162, 36060934, 9097956, 9768674	Exon 21	Yes
PHEX_0744	c.2104del	p.Arg702Glufs*38	PHEX	Deletion	Frameshift	Pathogenic	5-10	Lower limb deformities, Null	11502829, 16636593	Exon 21	No
PHEX_1230	c.2110del	p.Gln704Lysfs*36	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_0745	c.2110C>T	p.Gln704*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 21	Yes
PHEX_0915	c.2116C>T	p.Gln706*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 21	Yes
PHEX_0746	c.2118_2119del	p.Gln706Hisfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_0916	c.2125del	p.Ala709Leufs*31	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_1086	c.2126del	p.Ala709Valfs*31	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_0747	c.2133T>A	p.Ser711Arg	PHEX	SNV	Missense	Pathogenic	5-10	Null	11468271, 12111239, 12727977, 15470265, 16636593, 18046499, 25894638	Exon 21	No
PHEX_0748	c.2137_2143delinsAA	p.Pro713Asnfs*2	PHEX	Delins	Frameshift	Pathogenic	<5		16636593, 9768674	Exon 21	No
PHEX_0751	c.2138del	p.Pro713Leufs*27	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_0749	c.2138dup	p.Gln714Serfs*3	PHEX	Duplication	Frameshift	Pathogenic	5-10	Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short stature	19219621, 32329911	Exon 21	Yes
PHEX_0753	c.2140del	p.Gln714Serfs*26	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 21	Yes
PHEX_0754	c.2140C>T	p.Gln714*	PHEX	SNV	Nonsense	Pathogenic	<5		16261449, 32329911	Exon 21	Yes
PHEX_0750	c.2139_2140dup	p.Gln714Leufs*27	PHEX	Duplication	Frameshift	Pathogenic	<5		21902834, 23079138, 24926462	Exon 21	No
PHEX_1087	c.2142G>C	p.Gln714His	PHEX	SNV	Missense	Uncertain Significance	<5		34141703	Exon 21	No
PHEX_0813	c.2130_2142dup	p.Phe715Glnfs*6	PHEX	Duplication	Frameshift	Pathogenic	<5		30607568	Exon 21	No
PHEX_0758	c.2147G>C	p.Arg716Thr	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 21	Yes
PHEX_1088	c.2147_2147+3del	Intronic	PHEX	Deletion	Deletion	Pathogenic	<5			Exon 21, Intron 21	Yes
PHEX_0755	c.2147+1G>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5			Intron 21	Yes
PHEX_1089	c.2147+1_2147+8del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		21994957	Intron 21	Yes
PHEX_0756	c.2147+2T>A	Intronic	PHEX	SNV	Splice donor	Pathogenic	<5		26051471	Intron 21	No
PHEX_0757	c.2147+2_2147+9del	Intronic	PHEX	Deletion	Splice donor	Pathogenic	<5		34141703	Intron 21	Yes
PHEX_0759	c.2148-10C>A	Intronic	PHEX	SNV	Intronic	Uncertain Significance	<5		32253725	Intron 21	Yes
PHEX_0765	c.2148-3C>G	Intronic	PHEX	SNV	Splice region	Likely Pathogenic	<5			Intron 21	Yes
PHEX_0766	c.2148-2A>G	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		22101457	Intron 21	Yes
PHEX_0917	c.2148-2A>T	Intronic	PHEX	SNV	Splice acceptor	Likely Pathogenic	<5		16636593	Intron 21	No
PHEX_0760	c.2148-1G>T	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5		19219621, 22695891, 25031893	Intron 21	No
PHEX_0764	c.2148-1G>C	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 21	Yes
PHEX_1231	c.2148-1G>A	Intronic	PHEX	SNV	Splice acceptor	Pathogenic	<5			Intron 21	Yes
PHEX_0761	c.2149del	p.Val717Serfs*23	PHEX	Deletion	Frameshift	Pathogenic	<5		10439971, 16636593	Exon 22	Yes
PHEX_0767	c.2149G>T	p.Val717Phe	PHEX	SNV	Missense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities		Exon 22	Yes
PHEX_0769	c.2150T>A	p.Val717Asp	PHEX	SNV	Missense	Likely Pathogenic	<5		19219621	Exon 22	No
PHEX_0768	c.2150_2151insTG	p.Asn718Alafs*23	PHEX	Insertion	Frameshift	Pathogenic	<5		26051471	Exon 22	No
PHEX_1091	c.2154_2169delinsA	p.Asn718_Asn723delinsLys	PHEX	Delins	Protein altering	Likely Pathogenic	<5		34141703	Exon 22	No
PHEX_0771	c.2155G>A	p.Gly719Ser	PHEX	SNV	Missense	Likely Pathogenic	<5		24229582, 24857004	Exon 22	No
PHEX_0770	c.2155G>T	p.Gly719Cys	PHEX	SNV	Missense	Likely Pathogenic	<5		19219621, 32253725	Exon 22	No
PHEX_0772	c.2156del	p.Gly719Valfs*21	PHEX	Deletion	Frameshift	Pathogenic	<5		23813354	Exon 22	No
PHEX_0773	c.2158G>T	p.Ala720Ser	PHEX	SNV	Missense	Pathogenic	<5		28982589, 32511895	Exon 22	No
PHEX_0774	c.2158G>A	p.Ala720Thr	PHEX	SNV	Missense	Pathogenic	11-20	Null	10439971, 12727977, 16636593, 18046499, 21604088, 23813354, 25042154, 28982589, 32511895, 9768674	Exon 22	Yes
PHEX_0918	c.2158_2165del	p.Ala720*	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0775	c.2159C>A	p.Ala720Glu	PHEX	SNV	Missense	Pathogenic	5-10			Exon 22	Yes
PHEX_1092	c.2157_2160dup	p.Ile721Cysfs*3	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0776	c.2160_2175del	p.Ile721Asnfs*14	PHEX	Deletion	Frameshift	Pathogenic	<5		19219621	Exon 22	No
PHEX_0777	c.2162_2163insCCCT	p.Ser722Profs*2	PHEX	Insertion	Frameshift	Pathogenic	<5		10439971, 23079138, 24926462	Exon 22	No
PHEX_0778	c.2164del	p.Ser722Valfs*18	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0781	c.2166delinsGG	p.Ser722Argfs*4	PHEX	Delins	Frameshift	Pathogenic	<5		24594262, 30238432	Exon 22	No
PHEX_0782	c.2168dup	p.Asn723Lysfs*3	PHEX	Duplication	Frameshift	Pathogenic	<5		21902834, 23079138, 24926462	Exon 22	No
PHEX_0784	c.2171_2172insAACT	p.Phe724Leufs*3	PHEX	Insertion	Frameshift	Pathogenic	<5		19219621	Exon 22	No
PHEX_0783	c.2171_2172del	p.Phe724*	PHEX	Deletion	Frameshift	Pathogenic	5-10	Abnormal bone development, Lower limb deformities, Null, Other musculoskeletal abnormalities, Short stature	16055933, 16636593, 18162710, 23079138, 24926462, 30599486, 32253725	Exon 22	Yes
PHEX_0785	c.2172_*236del	Partial Deletion (Exon 22)	PHEX	Deletion	Extension	Pathogenic	<5			Exon 22	No
PHEX_1232	c.2176G>T	p.Glu726*	PHEX	SNV	Nonsense	Pathogenic	<5		34333162	Exon 22	No
PHEX_0919	c.2179T>C	p.Phe727Leu	PHEX	SNV	Missense	Pathogenic	5-10	Bone and/or joint pain and/or joint stiffness, Forward waist, Lower limb deformities, Tooth abscesses and/or excessive dental caries	32329911, 32511895	Exon 22	Yes
PHEX_1233	c.2181_2191del	p.Gln728*	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0786	c.2182C>T	p.Gln728*	PHEX	SNV	Nonsense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	15057978, 31474501, 34333162	Exon 22	Yes
PHEX_0780	c.2165_2184dup	p.Lys729Valfs*18	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0920	c.2188G>T	p.Ala730Ser	PHEX	SNV	Missense	Uncertain Significance	<5		29707405, 35738466	Exon 22	Yes
PHEX_0787	c.2189del	p.Ala730Valfs*10	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0789	c.2192T>A	p.Phe731Tyr	PHEX	SNV	Missense	Likely Pathogenic	5-10	Null	12727977, 16636593, 21604088, 22713460, 23813354, 32511895, 9768674	Exon 22	No
PHEX_0788	c.2192T>C	p.Phe731Ser	PHEX	SNV	Missense	Likely Pathogenic	5-10	Lower limb deformities, Null, Short stature, Tooth abscesses and/or excessive dental caries	22713460, 23813354, 24857004, 27840894, 29901142, 34141703	Exon 22	No
PHEX_0790	c.2193del	p.Phe731Leufs*9	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0791	c.2193_2194insAlu	p.Phe731fs	PHEX	Alu insertion	Frameshift	Pathogenic	<5			Exon 22	No
PHEX_0792	c.2197T>C	p.Cys733Arg	PHEX	SNV	Missense	Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Tooth abscesses and/or excessive dental caries"	16636593, 22527485, 25839938	Exon 22	Yes
PHEX_0921	c.?	p.Cys733Arg	PHEX	SNV	Missense	Pathogenic	<5		29735309, 29933856	Exon 22	Unknown
PHEX_1093	c.2194_2197dup	p.Cys733*	PHEX	Duplication	Nonsense	Pathogenic	<5		24857004	Exon 22	No
PHEX_0795	c.2198G>T	p.Cys733Phe	PHEX	SNV	Missense	Uncertain Significance	5-10	Abnormal bone development, Lower limb deformities, Null	30607568, 33639975	Exon 22	Yes
PHEX_0794	c.2198G>A	p.Cys733Tyr	PHEX	SNV	Missense	Likely Pathogenic	5-10	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Tooth abscesses and/or excessive dental caries"	16636593, 21293852, 23813354, 24857004, 25839938	Exon 22	Yes
PHEX_0793	c.2198G>C	p.Cys733Ser	PHEX	SNV	Missense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Protruding left occiput, Short stature, Skull deformities"	10439971, 16636593, 23079138, 24926462, 29610183	Exon 22	Yes
PHEX_1094	c.2199T>A	p.Cys733*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 22	Yes
PHEX_0797	c.2202del	p.Asn736Ilefs*4	PHEX	Deletion	Frameshift	Pathogenic	<5		30792871	Exon 22	No
PHEX_1234	c.2203_2204delinsA	p.Pro735Thrfs*5	PHEX	Delins	Frameshift	Pathogenic	<5			Exon 22	Unknown
PHEX_1235	c.2204C>A	p.Pro735His	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 22	No
PHEX_1236	c.2207A>G	p.Asn736Ser	PHEX	SNV	Missense	Uncertain Significance	<5			Exon 22	Yes
PHEX_1095	c.2214_2234del	p.Met739_Ser745del	PHEX	Deletion	Deletion	Uncertain Significance	<5			Exon 22	Yes
PHEX_1096	c.2216_2225del	p.Met739Thrfs*29	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_0922	c.2221A>T	p.Arg741*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 22	Yes
PHEX_1237	c.2223_2224dup	p.Gly742Glufs*30	PHEX	Duplication	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_1097	c.2227dup	p.Met743Asnfs*51	PHEX	Duplication	Frameshift	Pathogenic	<5		32698954	Exon 22	No
PHEX_1238	c.2229del	p.Asp744Thrfs*27	PHEX	Deletion	Frameshift	Pathogenic	<5		34523743	Exon 22	No
PHEX_1098	c.2230_2231insC	p.Asp744Alafs*50	PHEX	Insertion	Frameshift	Pathogenic	<5		32253725	Exon 22	No
PHEX_1239	c.2236T>C	p.Cys746Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 22	Yes
PHEX_0923	c.2236dup	p.Cys746Leufs*48	PHEX	Duplication	Frameshift	Pathogenic	<5		32329911	Exon 22	No
PHEX_0798	c.2237G>A	p.Cys746Tyr	PHEX	SNV	Missense	Pathogenic	11-20	"Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Harrison groove, Lower limb deformities, Null, Pectus excavatum, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	23813354, 24857004	Exon 22	Yes
PHEX_1099	c.2237G>T	p.Cys746Phe	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 22	Yes
PHEX_0800	c.2238C>G	p.Cys746Trp	PHEX	SNV	Missense	Likely Pathogenic	5-10	Abnormal bone development, Null	10439971, 12001226, 16636593, 23079138, 24926462, 30792871	Exon 22	No
PHEX_0799	c.2238C>A	p.Cys746*	PHEX	SNV	Nonsense	Pathogenic	<5		11502829, 16636593	Exon 22	Yes
PHEX_0802	c.2239C>T	p.Arg747*	PHEX	SNV	Nonsense	Pathogenic	30+	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Reduced_serum_phosphate, Short stature, Tooth abscesses and/or excessive dental caries"	10439971, 10874297, 10894185, 11502829, 12001226, 15057978, 16055933, 16636593, 18162710, 19219621, 21050253, 21902834, 22695891, 23079138, 24926462, 25839938, 25894638, 26051471, 29505567, 30599486, 30607568, 30682568, 30792871, 31903094, 32253725, 32329911, 33639975, 33666701, 34141703, 34333162, 36060934, 9199930, 9593714, 9768674	Exon 22	Yes
PHEX_0801	c.2239del	p.Arg747Aspfs*24	PHEX	Deletion	Frameshift	Pathogenic	<5			Exon 22	Yes
PHEX_1100	c.2240G>C	p.Arg747Pro	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 22	Yes
PHEX_0805	c.2243T>G	p.Leu748Arg	PHEX	SNV	Missense	UNKNOWN	<5			Exon 22	No
PHEX_0804	c.2244_2245del	p.Trp749Valfs*44	PHEX	Deletion	Frameshift	Pathogenic	<5		28383812	Exon 22	Yes
PHEX_0806	c.2245T>C	p.Trp749Arg	PHEX	SNV	Missense	Pathogenic	5-10	"Abnormal bone development, Bone and/or joint pain and/or joint stiffness, Bracelet, Costal margin valgus, Gait abnormalities, Lower limb deformities, Null, Other musculoskeletal abnormalities, Short stature, Skull deformities, Tooth abscesses and/or excessive dental caries"	16636593, 32253725, 35654784, 9768674	Exon 22	Yes
PHEX_1101	c.2245T>A	p.Trp749Arg	PHEX	SNV	Missense	Likely Pathogenic	<5			Exon 22	Yes
PHEX_0807	c.2245_2246insACTC	p.Trp749Tyrfs*46	PHEX	Insertion	Frameshift	Pathogenic	<5		15057978	Exon 22	No
PHEX_0808	c.2246G>C	p.Trp749Ser	PHEX	SNV	Missense	Uncertain Significance	<5		16636593	Exon 22	Yes
PHEX_0924	c.2248T>C	p.750Glnext9	PHEX	SNV	Extension	Likely Pathogenic	<5			Exon 22	Yes
PHEX_0809	c.2249A>T	p.750Leuext9	PHEX	SNV	Extension	Likely Pathogenic	<5		21050253, 28383812	Exon 22	Yes
PHEX_0810	c.2250G>C	p.750Tyrext9	PHEX	SNV	Extension	Likely Pathogenic	<5		26051471	Exon 22	Yes
PHEX_0811	c.*58C>T	p.?	PHEX	SNV	Non-coding	Likely Benign	<5		18625346	3' UTR	Yes
PHEX_0812	c.*231A>G	Non-coding	PHEX	SNV	Non-coding	Likely Pathogenic	30+	"Bone and/or joint pain and/or joint stiffness, Bradycardia, Cardio vascular disease, Chest wall disorders, Dyspnea, Fractures/pseudo-fractures, Gait abnormalities, Hearing abnormalities, Hypoxemia, In-toeing, Kidney disease, Lower limb deformities, Nervous system, Null, Reduced_serum_phosphate, Reduced_tmp/gfr_(	18625346, 25042154, 28982589, 29417983, 31242372, 31242373, 31242374, 31242375, 31242376, 31910300, 36530187	3' UTR	Yes

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Column Name	Table View	Detail View
Variant ID
Variant
Amino Acid Change
Gene Symbol
Variant Type
Effect Type
Display ACMG Call
Times Observed
Phenotype
PMID
Article Count
Location
GRCh38
Record Last Revised Date
ACMG Call Last Revised Date
ACMG Call
Predicted ACMG Call
Thousand Genomes Allele Frequency
Ontology Relations
ExAC Allele Frequency
GnomAD Alleles
Associated Geography
Variants Seen With
Other Alleles
Categories In Lit
Literature Alleles
Warnings
Hg19 Mapping Failed
ACMG Explanations
DBNSFP Alleles
ACMG Categories
No Contrary Evidence Found
Present in ClinVar
ClinVar Classification
Note

Notes:

Click the PMID number to go to the corresponding publication.
All variants are referencing NM_000444.5 or NM_000444.6 and there is no change between these versions with respect to the coding sequence.
Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
ACMG: American College of Medical Genetics and Genomics
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

References:

The HYP Consortium, A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets. Nat Genet 11, 130–136 (1995).
Rowe, P. S. N. et al., The wrickkened-pathways of FGF23, MEPE and PHEX. Crit Rev Oral Biol Med 15:264 –281 4 (2004).
Rowe, P. S. N. et al., Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway Crit Rev Eukaryot Gene Expr. 22(1):61-86 (2012).
Beck-Nielsen, S. S. et al., FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis 14, 58 (2019).
Barros, N. M. et al., Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X‐linked hypophosphatemia. J Bone Miner Res 28, 688–699 (2013).
Sarafrazi, S. et al., Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Hum Mutat. 43(2):143-157 (2022).

X-Linked Hypophosphatemia

Introduction

Variant List

Gene Structure

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