X-Linked Hypophosphatemia

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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 IDVariantAmino Acid ChangeGene SymbolVariant TypeEffect TypeDisplay ACMG CallTimes ObservedPhenotypePMIDLocation
PHEX_0001c.-562-?_118+?delDeletion (Exon 1)PHEXCNVDeletionPathogenic5-10Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb D....21994957, 32253725, 34806794Exon 1
PHEX_0006c.-562-?_187+?delDeletion (Exons 1-2)PHEXCNVDeletionPathogenic5-10Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34141703, 348067945' UTR
PHEX_0004c.-562-?_349+?delDeletion (Exons 1-3)PHEXCNVDeletionPathogenic<516636593, 11502829, 19581284, 22577109, 33666701, 34141703, 34806794Exon 1 - 3
PHEX_0007c.-562-?_663+?delDeletion (Exons 1-5)PHEXCNVDeletionPathogenic<5348067945' UTR
PHEX_0815c.-562-?_1079+?delDeletion (Exon 1-9)PHEXCNVDeletionLikely Pathogenic30+19513579, 34806794Exon 1 - 9
PHEX_0014c.-562-?_1173+?delDeletion (Exons 1-10)PHEXCNVDeletionPathogenic<5348067945' UTR
PHEX_0814c.-562-?_1586+?delDeletion (Exons 1-14)PHEXCNVDeletionPathogenic<5Gait abnormalities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate348067945' UTR
PHEX_0003c.-562-?_1645+?delDeletion (Exons 1-15)PHEXCNVDeletionPathogenic<5348067945' UTR
PHEX_1115c.-562-?_1404+?delDeletion (Exons 1-12)PHEXCNVDeletionPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....5' UTR
PHEX_0015c.-562-?_*3357+?delDeletion (Exons 1-22)PHEXCNVDeletionPathogenic<5Bone and/or joint pain and/or joint stiffness, Lower limb deformities348067945' UTR
PHEX_0008c.-430A>Gp.?PHEXSNVUntranslated regionUncertain Significance<59768674, 348067945' UTR
PHEX_0009c.-92G>Ap.?PHEXSNVUntranslated regionUncertain Significance<59768674, 348067945' UTR
PHEX_0010c.-33C>Tp.?PHEXSNVUntranslated regionBenign<59768674, 34806794, 192196215' UTR
PHEX_0013c.-29_118+534delDeletion (Exon 1)PHEXSplicingDeletionPathogenic<5348067945' UTR
PHEX_0011c.-14_8delinsTGGGAGCAGCGTGGp.?PHEXSmall insertionDeletionPathogenic<522695891, 34806794Exon 1
PHEX_0016c.1A>Gp.Met1?PHEXSNVMissenseUncertain Significance<521994957, 30682568, 34806794Exon 1
PHEX_0017c.2T>Cp.Met1?PHEXSNVUnknownPathogenic<534806794Exon 1
PHEX_0018c.4G>Tp.Glu2*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries26051471, 34806794Exon 1
PHEX_0019c.10G>Cp.Glu4GlnPHEXSNVMissenseUncertain Significance<516636593, 31180159, 34141703, 34806794Exon 1
PHEX_0020c.15_16delp.Gly6Glufs*44PHEXSmall deletionFrameshiftPathogenic5-10Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate22577109, 34806794Exon 1
PHEX_0021c.17_18delp.Gly6Glufs*44PHEXSmall deletionFrameshiftPathogenic<516636593, 11502829, 34806794Exon 1
PHEX_0022c.20_21insAGp.Ser7Argfs*24PHEXSmall insertionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 1
PHEX_0023c.24C>Tp.Ser8=PHEXSNVSynonymousLikely Benign<511502829, 34806794Exon 1
PHEX_0024c.27_28insAp.Glu10Argfs*41PHEXSmall insertionFrameshiftPathogenic<5Lower Limb Deformities34806794Exon 1
PHEX_0025c.30_36delp.Thr11Argfs*19PHEXSmall deletionFrameshiftPathogenic<534806794Exon 1
PHEX_0026c.49A>Tp.Arg17*PHEXSNVNonsensePathogenic<5Gait Abnormalities34806794Exon 1
PHEX_0982c.51_52dupp.Gly18Glufs*15PHEXSmall insertionFrameshiftPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg32253725Exon 1
PHEX_0027c.58C>Tp.Arg20*PHEXSNVNonsensePathogenic11-20Other Musculoskeletal Abnormalities, Short Stature, Lower limb deformities, Lowe....10439971, 9199930, 11502829, 23079138, 20157195, 16055933, 21050253, 15057978, 24857004, 9097956, 16636593, 24926462, 25894638, 18162710, 30599486, 10874297, 34141703, 34806794Exon 1
PHEX_0028c.64G>Tp.Ala22SerPHEXSNVMissenseUncertain Significance<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities23079138, 24926462, 18162710, 30599486, 34806794Exon 1
PHEX_0029c.67_74delp.Leu23Valfs*25PHEXSmall deletionFrameshiftPathogenic<534806794Exon 1
PHEX_0030c.68delp.Leu23Argfs*9PHEXSmall deletionFrameshiftPathogenic<534806794Exon 1
PHEX_0032c.77_78delp.Phe26Cysfs*24PHEXSmall deletionFrameshiftPathogenic5-10Other Musculoskeletal Abnormalities30607568, 33639975, 21902834, 34806794Exon 1
PHEX_0033c.82G>Ap.Gly28SerPHEXSNVMissenseLikely Benign<519513579, 34806794Exon 1
PHEX_0034c.83delp.Gly28Valfs*4PHEXSmall deletionFrameshiftPathogenic<5Gait Abnormalities34806794Exon 1
PHEX_0035c.117delp.Val40*PHEXSmall deletionNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 1 - 2
PHEX_0037c.118+1G>Ap.?PHEXSplicingSplice donorPathogenic5-10Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries16636593, 25031893, 15057978, 34141703, 34806794Intron 1
PHEX_0038c.118+1G>TSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 1
PHEX_0036c.118+2delSplice donorPHEXSplicingSplice donorLikely Pathogenic<534806794Intron 1
PHEX_0816c.118+2T>Gp.?PHEXSplicingSplice donorPathogenic<533639975, 34806794Intron 1
PHEX_0983c.118+951C>Tp.?PHEXSplicingIntronicBenign<519581284Intron 1
PHEX_0984c.118+2130T>Ap.?PHEXSplicingIntronicUncertain Significance<519581284Intron 1
PHEX_0985c.119-455C>Tp.?PHEXSplicingIntronicBenign<522666411Intron 1
PHEX_0043c.119-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic<516636593, 7550339, 34806794Intron 1
PHEX_0041c.119-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic<516636593, 7550339, 34806794Intron 1
PHEX_0039c.119-?_187+?delDeletion (Exon 2)PHEXCNVDeletionLikely Pathogenic<532329911, 34806794Exon 2
PHEX_0042c.119-?_*3357+?dupGain (Exons 2-22)PHEXCNVDuplicationUncertain Significance<534806794Intron 1
PHEX_0044c.124delp.Gln42Lysfs*4PHEXSmall deletionFrameshiftPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 2
PHEX_0045c.133_134delp.Leu45Lysfs*5PHEXSmall deletionFrameshiftPathogenic<523813354, 34806794Exon 2
PHEX_1116c.134_135ins?p.Leu45fsPHEXSmall insertionPathogenic<5Exon 2
PHEX_0047c.134T>Ap.Leu45*PHEXSNVNonsensePathogenic<5Lower Limb Deformities34806794Exon 2
PHEX_0046c.134T>Gp.Leu45*PHEXSNVNonsensePathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 2
PHEX_0048c.142C>Tp.Gln48*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities25839938, 19219621, 34806794Exon 2
PHEX_0049c.148A>Tp.Lys50*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries25839938, 22527485, 34806794Exon 2
PHEX_0050c.151C>Tp.Gln51*PHEXSNVNonsensePathogenic5-10Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities25839938, 11502829, 31485552, 9097956, 16636593, 34806794Exon 2
PHEX_0051c.154G>Tp.Glu52*PHEXSNVNonsensePathogenic<5Lower Limb Deformities28383812, 34806794Exon 2
PHEX_0052c.159C>Ap.Tyr53*PHEXSNVNonsensePathogenic<534806794Exon 2
PHEX_0986c.160delp.Cys54Alafs*2PHEXSmall deletionFrameshiftPathogenic<532253725Exon 2
PHEX_0987c.161dupp.Cys54Trpfs*16PHEXSmall insertionFrameshiftPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....Exon 2
PHEX_0053c.162C>Ap.Cys54*PHEXSNVNonsensePathogenic<530682568, 34806794Exon 2
PHEX_0054c.166A>Tp.Lys56*PHEXSNVNonsensePathogenic<534806794Exon 2
PHEX_0055c.174delp.Glu58Aspfs*10PHEXSmall deletionFrameshiftPathogenic<5bowed or bent legs32329911, 34806794Exon 2
PHEX_0056c.176G>Cp.Cys59SerPHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities19513579, 34806794Exon 2
PHEX_0057c.177C>Ap.Cys59*PHEXSNVNonsensePathogenic<5Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34806794Exon 2
PHEX_0058c.179_436delp.Ile60_Glu145delPHEXCNVDeletionLikely Pathogenic<516636593, 34806794Exons 2-4
PHEX_0059c.181G>Tp.Glu61*PHEXSNVNonsensePathogenic<521994957, 34806794Exon 2
PHEX_0060c.185C>Tp.Ala62ValPHEXSplicingIntronicUncertain Significance<5Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate34806794Exon 2
PHEX_0061c.187delp.Ala63Leufs*5PHEXSmall deletionFrameshiftPathogenic<522577109, 34806794Exons 2-3
PHEX_0988c.187+1G>Cp.?PHEXSplicingSplice donorPathogenic<534141703Intron 2
PHEX_0063c.187+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Lower Limb Deformities16636593, 29505567, 10439971, 34806794Intron 2
PHEX_0062c.187+2T>ASplice donorPHEXSplicingSplice donorLikely Pathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Intron 2
PHEX_0989c.187+3_187+6delIntronicPHEXSmall deletionSplice donorUncertain Significance<5Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short StatureIntron 2
PHEX_0990c.187+354C>Tp.?PHEXSplicingIntronicBenign<519581284Intron 2
PHEX_0991c.187+416G>Ap.?PHEXSplicingIntronicBenign<519581284Intron 2
PHEX_0992c.187+491G>Ap.?PHEXSplicingIntronicUncertain Significance<519581284Intron 2
PHEX_0993c.188-3779C>Gp.?PHEXSplicingIntronicUncertain Significance<519581284Intron 2
PHEX_0994c.188-3425G>Ap.?PHEXSplicingIntronicBenign<519581284Intron 2
PHEX_0995c.188-3319T>Cp.?PHEXSplicingIntronicBenign<519581284Intron 2
PHEX_0069c.188-47C>Tp.?PHEXSplicingIntronicBenign<519219621, 34806794Intron 2
PHEX_0067c.188-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Intron 2
PHEX_0066c.188-1G>Cp.?PHEXSplicingSplice acceptorPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities11502829, 34806794Intron 2
PHEX_0064c.188-?_349+?delDeletion (Exon 3)PHEXCNVDeletionPathogenic<5Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait abnormalities, Lower limb deformities, abnormal bone development, short stature23079138, 24926462, 21902834, 34806794Exon 3
PHEX_0065c.188-?_349+?dupGain (Exon 3)PHEXCNVDuplicationUncertain Significance<521902834, 34806794Exon 3
PHEX_0817c.188-?_1302+?dupGain (Exons 3-11)PHEXCNVDuplicationPathogenic<534806794Intron 2
PHEX_0070c.188-?_1404+?dupGain (Exons 3-12)PHEXCNVDuplicationLikely Pathogenic<534806794Intron 2
PHEX_0071c.200T>Gp.Leu67*PHEXSNVNonsensePathogenic<516636593, 34806794Exon 3
PHEX_0073c.201_202dupp.Ser68Lysfs*4PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 3
PHEX_0996c.202dupp.Ser68Lysfs*2PHEXSmall insertionFrameshiftPathogenic<5Fractures/pseudo-fractures, Short StatureExon 3
PHEX_0074c.204delp.Ser68Argfs*3PHEXSmall deletionFrameshiftPathogenic<534806794Exon 3
PHEX_0075c.204dupp.Lys69*PHEXSmall insertionNonsensePathogenic<530607568, 33639975, 34806794Exon 3
PHEX_0076c.208_212delp.Val70Serfs*7PHEXSmall deletionFrameshiftPathogenic5-10Gait Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature26377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 34806794Exon 3
PHEX_0077c.212A>Cp.Asn71ThrPHEXSNVMissenseLikely Pathogenic<521050253, 34806794Exon 3
PHEX_0078c.212A>Tp.Asn71IlePHEXSNVMissenseLikely Pathogenic5-10Short Stature, Other Musculoskeletal Abnormalities30607568, 33639975, 21902834, 34806794Exon 3
PHEX_0080c.218_221delp.Ser73Trpfs*16PHEXSmall deletionFrameshiftPathogenic<534806794Exon 3
PHEX_0082c.221_222delp.Val74Glyfs*4PHEXSmall deletionFrameshiftPathogenic<522577109, 34806794Exon 3
PHEX_1102c.221delp.Val74Glyfs*16PHEXSmall deletionFrameshiftPathogenic<534141703Exon 3
PHEX_0083c.227_238dupp.Asn79_Phe80insSerCysAspAsnPHEXSmall duplicationInsertionPathogenic<534806794Exon 3
PHEX_0997c.227_240delp.Pro76Leufs*6PHEXSmall deletionFrameshiftPathogenic<5Exon 3
PHEX_0084c.229T>Ap.Cys77SerPHEXSNVMissensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities26051471, 34806794Exon 3
PHEX_0998c.229T>Cp.Cys77ArgPHEXSNVMissenseLikely Pathogenic<5short stature, genu varum, teeth falling out34141703, 27840894Exon 3
PHEX_0086c.230G>Ap.Cys77TyrPHEXSNVMissenseLikely Pathogenic<5bowed or bent legs32329911, 34806794Exon 3
PHEX_0085c.230G>Cp.Cys77SerPHEXSNVMissensePathogenic<5Hearing Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait ....16636593, 19219621, 9097956, 10874297, 12001226, 32253725, 34806794Exon 3
PHEX_0087c.230G>Tp.Cys77PhePHEXSNVMissensePathogenic<5Lower Limb Deformities, Gait abnormalities, Fractures/Pseudo-Fractures34806794Exon 3
PHEX_0088c.231T>Gp.Cys77TrpPHEXSNVMissenseLikely Pathogenic<530682568, 34806794Exon 3
PHEX_0089c.239T>Cp.Phe80SerPHEXSNVMissensePathogenic<517710565, 12001226, 34806794Exon 3
PHEX_0091c.241T>Cp.Phe81LeuPHEXSNVMissenseUncertain Significance<534806794Exon 3
PHEX_0092c.242T>Cp.Phe81SerPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities10439971, 23079138, 16636593, 24926462, 17710565, 34806794Exon 3
PHEX_0093c.250G>Cp.Ala84ProPHEXSNVMissenseUncertain Significance<534806794Exon 3
PHEX_0094c.251C>Ap.Ala84AspPHEXSNVMissenseLikely Pathogenic<525042154, 34806794Exon 3
PHEX_0095c.253T>Cp.Cys85ArgPHEXSNVMissensePathogenic<59199930, 11468271, 16636593, 12727977, 14992683, 15470265, 12001226, 19513579, 17710565, 10874297, 25894638, 18046499, 12111239, 34806794Exon 3
PHEX_0096c.254G>Ap.Cys85TyrPHEXSNVMissensePathogenic5-10Lower Limb Deformities11502829, 30682568, 9106524, 16636593, 10874297, 12001226, 34806794Exon 3
PHEX_0098c.254G>Cp.Cys85SerPHEXSNVMissensePathogenic<5bowed or bent legs, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature30682568, 32329911, 34806794Exon 3
PHEX_0097c.254G>Tp.Cys85PhePHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities16636593, 19219621, 10874297, 12001226, 34806794Exon 3
PHEX_0999c.255T>Ap.Cys85*PHEXSNVNonsensePathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short StatureExon 3
PHEX_0099c.263G>Ap.Trp88*PHEXSNVNonsensePathogenic<534806794Exon 3
PHEX_0100c.264delp.Trp88*PHEXSmall deletionNonsensePathogenic5-1023813354, 21293852, 18046499, 24857004, 34806794Exon 3
PHEX_0101c.275_280delinsTp.Asn92Ilefs*17PHEXSmall insertionFrameshiftPathogenic<534806794Exon 3
PHEX_0102c.288A>Gp.Glu96=PHEXSNVSynonymousLikely Benign<518625346, 34806794Exon 3
PHEX_0103c.288delp.Asp97Ilefs*11PHEXSmall deletionFrameshiftPathogenic<534806794Exon 3
PHEX_0104c.289_349+836delinsAAGATATGCCTSplice DonorPHEXSplicingSplice donorLikely Pathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 3
PHEX_0105c.294_295insAAGAGp.Pro99Lysfs*11PHEXSmall insertionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 3
PHEX_0106c.304G>Ap.Gly102ArgPHEXSNVMissensePathogenic11-20bowed or bent legs, short stature, Lower Limb Deformities, Tooth Abscesses and/o....29901142, 34141703, 27840894, 34806794Exon 3
PHEX_1000c.304G>Tp.Gly102TrpPHEXSNVMissenseLikely Pathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Lower limb deformities, Short Stature, Exon 3
PHEX_0107c.307delp.Val103Phefs*5PHEXSmall deletionFrameshiftPathogenic<5Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 3
PHEX_0818c.310delp.Tyr104Ilefs*4PHEXSmall deletionFrameshiftPathogenic<532329911, 34806794Exon 3
PHEX_1001c.316delp.Trp106Glyfs*2PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short StatureExon 3
PHEX_0108c.318G>Ap.Trp106*PHEXSNVNonsensePathogenic<534806794Exon 3
PHEX_0819c.325_326dupp.Asn110Ilefs*7PHEXSmall duplicationFrameshiftPathogenic<533295632, 34806794Exon 3
PHEX_0109c.327delp.His109Glnfs*7PHEXSmall deletionFrameshiftPathogenic<59768674, 16636593, 34806794Exon 3
PHEX_0079c.328_330delp.Asn110delPHEXCNVDeletionLikely Pathogenic<520157195, 18625346, 34806794Exon 3
PHEX_0111c.329_330insCp.Val111Cysfs*2PHEXSmall insertionFrameshiftPathogenic<59768674, 34806794Exon 3
PHEX_0112c.332_334delp.Val111delPHEXSmall deletionDeletionLikely Pathogenic<534806794Exon 3
PHEX_0820c.349+1G>Ap.?PHEXSplicingSplice donorPathogenic<516636593, 34806794Intron 3
PHEX_0114c.349+1G>CSplice donorPHEXSplicingSplice donorLikely Pathogenic<534806794Intron 3
PHEX_0821c.349+1G>TSplice donorPHEXSplicingSplice donorPathogenic<5Lower limb deformities34806794Intron 3
PHEX_0115c.349+2delSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 3
PHEX_0116c.349+2T>Cp.?PHEXSplicingSplice donorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34141703, 34806794Intron 3
PHEX_1002c.350-14216G>Ap.?PHEXSplicingIntronicBenign<521618345Intron 3
PHEX_0126c.350-2A>Gp.?PHEXSplicingSplice acceptorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities26051471, 29460029, 34806794Intron 3
PHEX_0120c.350-1G>Ap.?PHEXSplicingSplice acceptorPathogenic<522577109, 34806794Intron 3
PHEX_1003c.350-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic<5Intron 3
PHEX_0125c.350-1G>Tp.?PHEXSplicingSplice acceptorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities22101457, 29460029, 19219621, 34806794Intron 3
PHEX_0127c.350-?_436+?delDeletion (Exon 4)PHEXCNVDeletionPathogenic<5Fractures/Pseudo-Fractures, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature32253725, 34806794Intron 3
PHEX_0122c.350-?_663+?delDeletion (Exons 4-5)PHEXCNVDeletionPathogenic<516636593, 9199930, 34806794Exons 4-5
PHEX_0119c.350-?_732+?delDeletion (Exons 4-6)PHEXCNVDeletionPathogenic<534806794Intron 3
PHEX_1117c.350-?_933+?dupGain (Exons 4-8)PHEXDuplicationPathogenic<5Lower limb deformities, Short StatureIntron 3
PHEX_1118c.350-?_1079+?dupGain (Exons 4-9)PHEXDuplicationLikely Pathogenic<5Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short StatureIntron 3
PHEX_0124c.350-?_1404+?delDeletion (Exons 4-12)PHEXCNVDeletionPathogenic<5abnormal bone development, bowed or bent leg, short stature32253725, 34806794Intron 3
PHEX_0128c.350-?_1899+?delDeletion (Exons 4-18)PHEXCNVDeletionUncertain Significance<522695891, 34806794Exons 4-18
PHEX_0822c.350-?_2070+?delDeletion (Exon 4-20)PHEXCNVDeletionLikely Pathogenic<5bowed or bent legs19513579, 34806794Intron 3
PHEX_0118c.350-?_*3357+?delDeletion (Exons 4-22)PHEXCNVDeletionPathogenic<534806794Intron 3
PHEX_0129c.361A>Tp.Lys121*PHEXSNVNonsensePathogenic<534806794Exon 4
PHEX_0113c.388G>Tp.Glu130*PHEXSNVNonsensePathogenic<530075510, 34806794Exon 4
PHEX_0130c.395_398dupp.Gln133Hisfs*14PHEXSmall duplicationFrameshiftPathogenic<5nephrocalcinosis24926462, 23079138, 21902834, 34806794Exon 4
PHEX_0131c.397C>Tp.Gln133*PHEXSNVNonsensePathogenic5-10Gait Abnormalities, Nervous System, Lower Limb Deformities21050253, 18057152, 34806794Exon 4
PHEX_0132c.401_402insGCCAAAp.Lys134_Ala135insProLysPHEXSmall insertionInsertionLikely Pathogenic<5Lower Limb Deformities28383812, 34806794Exon 4
PHEX_1004c.402delp.Ala135Profs*9PHEXSmall deletionFrameshiftPathogenic<534141703Exon 4
PHEX_0133c.404C>Ap.Ala135AspPHEXSNVMissenseUncertain Significance<534806794Exon 4
PHEX_0823c.409dupp.Ile137Asnfs*9PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 4
PHEX_1103c.411_414delp.Leu138Ilefs*5PHEXSmall deletionFrameshiftPathogenic<534141703Exon 4
PHEX_0134c.412delp.Leu138Phefs*6PHEXSmall deletionFrameshiftPathogenic<5Short Stature, Lower Limb Deformities24229582, 16636593, 15057978, 24857004, 34806794Exon 4
PHEX_1005c.413_419dupp.Ser141Leufs*7PHEXSmall insertionFrameshiftPathogenic<5Exon 4
PHEX_0135c.413T>Cp.Leu138ProPHEXSNVMissenseLikely Pathogenic5-10Other Musculoskeletal Abnormalities, Lower Limb Deformities10439971, 27884786, 23079138, 9097956, 16636593, 24926462, 19219621, 10874297, 34806794Exon 4
PHEX_0136c.415delp.Tyr139Ilefs*5PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 4
PHEX_0137c.416A>Gp.Tyr139CysPHEXSNVMissensePathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 4
PHEX_0138c.418T>Cp.Ser140ProPHEXSNVMissensePathogenic<534806794Exon 4
PHEX_0139c.419C>Gp.Ser140*PHEXSNVNonsensePathogenic<534806794Exon 4
PHEX_0140c.421T>Cp.Ser141ProPHEXSNVMissenseLikely Pathogenic<516636593, 26894575, 34806794Exon 4
PHEX_0141c.422C>Tp.Ser141PhePHEXSNVMissenseLikely Pathogenic5-10Short Stature, Lower Limb Deformities26894575, 34806794Exon 4
PHEX_0142c.423delp.Cys142Alafs*2PHEXSmall deletionFrameshiftPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 4
PHEX_0143c.424T>Cp.Cys142ArgPHEXSNVMissenseLikely Pathogenic<525086671, 34806794Exon 4
PHEX_0145c.425G>Cp.Cys142SerPHEXSNVMissenseUncertain Significance<5Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg10439971, 16636593, 32253725, 34806794Exon 4
PHEX_0144c.425G>Tp.Cys142PhePHEXSNVMissensePathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 4
PHEX_0146c.426C>Ap.Cys142*PHEXSNVNonsensePathogenic<534806794Exon 4
PHEX_0147c.433G>Tp.Glu145*PHEXSNVNonsensePathogenic<530393837, 34806794Exon 4
PHEX_1006c.436_436+1delp.?PHEXSmall deletionSplice donorPathogenic5-10short stature, genu varum34141703, 27840894Exon 4, Intron 4
PHEX_0149c.436+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Short Stature, Lower Limb Deformities, Gait Abnormalities, Skull Deformities24857004, 29505567, 34806794Intron 4
PHEX_0153c.436+1G>Cp.?PHEXSplicingSplice donorPathogenic<5stunted growth, genu varum18625346, 29505567, 34141703, 27840894, 34806794Intron 4
PHEX_0151c.436+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Short Stature, Lower Limb Deformities29460029, 29505567, 34806794Intron 4
PHEX_0156c.436+2T>Ap.?PHEXSplicingSplice donorPathogenic<5Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses ....10439971, 31102713, 16636593, 34806794Intron 4
PHEX_0155c.436+3G>Cp.?PHEXSplicingIntronicLikely Pathogenic<5Short Stature, Other Musculoskeletal Abnormalities31102713, 21902834, 24857004, 34806794Intron 4
PHEX_0150c.436+4A>Cp.?PHEXSplicingIntronicPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities31102713, 19219621, 24857004, 34806794Intron 4
PHEX_0154c.436+4A>GIntronicPHEXSplicingIntronicPathogenic<534806794Intron 4
PHEX_0824c.436+4A>Tp.?PHEXSplicingIntronicLikely Pathogenic<533639975, 34806794Intron 4
PHEX_1007c.436+5_436+8delp.?PHEXSmall deletionSplice donorUncertain Significance<518625346Intron 4
PHEX_0157c.436+5G>AIntronicPHEXSplicingIntronicUncertain Significance<534806794Intron 4
PHEX_0152c.436+5G>Tp.?PHEXSplicingIntronicLikely Pathogenic<515057978, 34806794Intron 4
PHEX_1008c.436+6T>AIntronicPHEXSplicingSplice donorLikely Pathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformitiesIntron 4
PHEX_0148c.436+6T>Cp.?PHEXSplicingIntronicPathogenic5-10Muscle Pain and/or Weakness and/or Fatigue, Bone and/or Joint Pain and/or Joint ....18252791, 31102713, 24857004, 34806794Intron 4
PHEX_0160c.437-3C>Gp.?PHEXSplicingIntronicUncertain Significance<5Other Musculoskeletal Abnormalities, Lower Limb Deformities31102713, 19219621, 24857004, 34806794Intron 4
PHEX_0161c.437-2A>CSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic<534806794Intron 4
PHEX_0159c.437-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Intron 4
PHEX_0162c.437-?_1404+?delDeletion (Exons 5-12)PHEXCNVDeletionPathogenic<534806794Intron 4
PHEX_0825c.444delp.Ile148Metfs*73PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Lower limb deformities34806794Exon 5
PHEX_0163c.455dupp.Asp152Glufs*20PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 5
PHEX_0164c.457dupp.Ala153Glyfs*19PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 5
PHEX_0165c.463C>Gp.Pro155AlaPHEXSNVMissenseUncertain Significance<522996961, 34806794Exon 5
PHEX_0166c.465_466dupp.Leu156Hisfs*66PHEXSmall insertionFrameshiftPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities24926462, 30599486, 23079138, 22261628, 18162710, 34806794Exon 5
PHEX_0826c.468dupp.Leu157Alafs*15PHEXSmall duplicationFrameshiftPathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Exon 5
PHEX_0827c.471delp.His158Thrfs*63PHEXSmall deletionFrameshiftPathogenic<533639975, 34806794Exon 5
PHEX_0167c.479T>Gp.Leu160ArgPHEXSNVMissenseLikely Pathogenic<516636593, 11004247, 34806794Exon 5
PHEX_0168c.482G>Cp.Arg161ProPHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities21050253, 34806794Exon 5
PHEX_0169c.485A>Gp.His162ArgPHEXSNVMissensePathogenic<59768674, 34806794Exon 5
PHEX_1009c.488C>Ap.Ser163*PHEXSNVNonsensePathogenic<5short stature, pain, dental abscesses33796255Exon 5
PHEX_0170c.489A>Gp.Ser163=PHEXSNVSynonymousLikely Pathogenic<59768674, 34806794Exon 5
PHEX_0171c.496C>Tp.Arg166CysPHEXSNVMissenseLikely Pathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities10439971, 11502829, 23079138, 16636593, 24926462, 34806794Exon 5
PHEX_0172c.497delp.Arg166Profs*55PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffne....30075510, 34806794Exon 5
PHEX_0173c.499T>Cp.Trp167ArgPHEXSNVMissenseLikely Pathogenic5-10radiological signs of rickets, abnormal bone development, short stature, Lower Limb Deformities33639975, 34806794Exon 5
PHEX_1010c.501G>Ap.Trp167*PHEXSNVNonsensePathogenic<533666701Exon 5
PHEX_0174c.503C>Tp.Pro168LeuPHEXSNVMissensePathogenic5-10Gait Abnormalities, Lower Limb Deformities16261449, 29460029, 34806794Exon 5
PHEX_0175c.505G>Ap.Val169MetPHEXSNVMissenseLikely Benign5-10Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 5
PHEX_0176c.508_529delp.Leu170Lysfs*44PHEXSmall deletionFrameshiftPathogenic<534806794Exon 5
PHEX_1011c.518_520delATAinsTTp.Asn173Ilefs*48PHEXDeletion/InsertionFrameshiftPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725Exon 5
PHEX_1012c.528delp.Glu177Lysfs*44PHEXSmall deletionFrameshiftPathogenic<5genu varum34141703, 27840894Exon 5
PHEX_0177c.537T>Ap.Val179=PHEXSNVSynonymousLikely Benign<59768674, 34806794Exon 5
PHEX_0178c.538delp.Trp180Glyfs*41PHEXSmall deletionFrameshiftPathogenic5-1019201216, 27884786, 19219621, 34806794Exon 5
PHEX_0179c.540G>Ap.Trp180*PHEXSNVNonsensePathogenic<5Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34806794Exon 5
PHEX_0180c.542C>Gp.Ser181*PHEXSNVNonsensePathogenic<529460029, 34806794Exon 5
PHEX_0181c.547_548delp.Arg183Lysfs*28PHEXSmall deletionFrameshiftPathogenic<523813354, 34806794Exon 5
PHEX_1104c.548_549delp.Arg183Lysfs*28PHEXSmall deletionFrameshiftPathogenic<5abnormal bone development, bowed or bent leg, short stature32253725Exon 5
PHEX_0182c.551dupp.Phe185Valfs*27PHEXSmall duplicationFrameshiftPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 5
PHEX_0828c.552delp.Lys184Asnfs*37PHEXSmall deletionFrameshiftPathogenic<5Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries34806794Exon 5
PHEX_0184c.565C>Tp.Gln189*PHEXSNVNonsensePathogenic<5Short Stature, Other Musculoskeletal Abnormalities, pain16261449, 23079138, 12414858, 24926462, 21902834, 16636593, 33796255, 34806794Exon 5
PHEX_0829c.567_568delp.Gln189Hisfs*22PHEXSmall deletionFrameshiftPathogenic<529707405, 34806794Exon 5
PHEX_0183c.567_576delp.Thr190Argfs*28PHEXSmall deletionFrameshiftPathogenic<522577109, 34806794Exon 5
PHEX_1013c.572T>Cp.Leu191ProPHEXSNVMissenseLikely Pathogenic<5short stature, pain, bowed or bent leg, dental abscesses32253725Exon 5
PHEX_0185c.574dupp.Ala192Glyfs*20PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 5
PHEX_0186c.589C>Tp.Gln197*PHEXSNVNonsensePathogenic<5Short Stature, Bone Density Abnormalities, Lower Limb Deformities30599486, 34806794Exon 5
PHEX_0187c.591A>Gp.Gln197=PHEXSNVSynonymousPathogenic11-20Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(21902834, 29393334, 34806794Exon 5
PHEX_0188c.593dupp.Tyr198*PHEXSmall duplicationNonsensePathogenic<534806794Exon 5
PHEX_1105c.594C>Ap.Tyr198*PHEXSNVNonsensePathogenic<5abnormal bone development, short stature32253725Exon 5
PHEX_0189c.594C>Gp.Tyr198*PHEXSNVNonsensePathogenic<516636593, 11004247, 34806794Exon 5
PHEX_0190c.610_663+50delp.?PHEXSmall deletionDeletionPathogenic<516636593, 9199930, 9097956, 34806794Exon 5, intron 5
PHEX_0830c.614G>Cp.Arg205ProPHEXSNVMissenseLikely Pathogenic<529901142, 34141703, 34806794Exon 5
PHEX_0192c.617T>Ap.Leu206*PHEXSNVNonsensePathogenic<534806794Exon 5
PHEX_0191c.617T>Gp.Leu206TrpPHEXSNVMissenseLikely Pathogenic<5Short Stature, Lower Limb Deformities16636593, 21293852, 23813354, 24857004, 34806794Exon 5
PHEX_1014c.620_623delp.Tyr207Cysfs*13PHEXSmall deletionFrameshiftPathogenic<533666701Exon 5
PHEX_0193c.621T>Ap.Tyr207*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 5
PHEX_0194c.630delp.Asp211Metfs*10PHEXSmall deletionFrameshiftPathogenic<529460029, 34806794Exon 5
PHEX_1015c.637A>Tp.Lys213*PHEXSNVNonsensePathogenic<534141703Exon 5
PHEX_1016c.643dupp.Ser215Phefs*3PHEXSmall insertionFrameshiftPathogenic<5Exon 5
PHEX_0195c.649G>Tp.Glu217*PHEXSNVNonsensePathogenic<5Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries9768674, 16636593, 34806794Exon 5
PHEX_0831c.652_655delp.His218Serfs*2PHEXSmall deletionFrameshiftPathogenic<529707405, 34806794Exon 5
PHEX_0196c.655_656delp.Ile219Leufs*18PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities26051471, 34806794Exon 5
PHEX_1017c.657_658delp.Leu220Glufs*17PHEXSmall deletionFrameshiftPathogenic<5short stature, pectus carinatum32253725Exon 5
PHEX_0198c.663_663+12delIntronicPHEXSmall deletionSplice donorPathogenic<5Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Skull Deformities25153221, 34806794Exon 5, Intron 5
PHEX_0197c.663_1176delp.Leu222Serfs*15PHEXCNVFrameshiftPathogenic<521050253, 34806794Exon 6
PHEX_0199c.663G>Ap.Lys221=PHEXSplicingsplice donorLikely Pathogenic5-10Reduced Serum Phosphate, Gait Abnormalities, Lower Limb Deformities, Lower limb ....34806794Exon 5
PHEX_0200c.663+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Short Stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, L....30599486, 25031893, 34806794Intron 5
PHEX_0832c.663+1G>Tp.?PHEXSplicingSplice donorPathogenic5-1033295632, 34806794Intron 5
PHEX_0201c.663+2delp.?PHEXSmall deletionSplice donorPathogenic<523813354, 21293852, 24857004, 34806794Intron 5
PHEX_0202c.663+2T>ASplice donorPHEXSplicingSplice donorPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Intron 5
PHEX_0203c.663+2T>CSplice donorPHEXSplicingSplice donorPathogenic5-10Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities34806794Intron 5
PHEX_0204c.664-2A>CSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic<534806794Intron 5
PHEX_0833c.664-1G>Cp.?PHEXSplicingSplice acceptorPathogenic<532329911, 34806794Intron 5
PHEX_0205c.664-?_732+?delDeletion (Exon 6)PHEXCNVDeletionPathogenic<59768674, 9199930, 16636593, 34806794Exon 6
PHEX_1119c.664-?_732+?dupGain (Exon 6)PHEXSmall duplicationUncertain Significance<5Exon 6
PHEX_1120c.664-?_849+?delDeletion (Exons 6-7)PHEXDeletionUNKNOWN<533666701Exon 6 - 7
PHEX_0206c.664-?_933+?delDeletion (Exons 6-8)PHEXCNVDeletionPathogenic<534806794Intron 5
PHEX_0207c.664-?_1079+?delDeletion (Exons 6-9)PHEXCNVDeletionPathogenic<534806794Intron 5
PHEX_1121c.664-?_1302+?delDeletion (Exons 6-11)PHEXDeletionUNKNOWN<534141703Exon 6 - 11
PHEX_0834c.665_674delp.Leu222Glnfs*7PHEXSmall deletionFrameshiftPathogenic<529707405, 34806794Exon 6
PHEX_0208c.665T>Cp.Leu222ProPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 6
PHEX_0209c.670C>Tp.Gln224*PHEXSNVNonsensePathogenic5-10bowed or bent legs, short stature, gait disturbance, abnormal bone development23079138, 32133333, 21293852, 24857004, 16636593, 24926462, 24857004, 33783172, 34806794Exon 6
PHEX_1018c.671_685delp.Gln224_Ser228delPHEXSmall deletionDeletionLikely Pathogenic<5short stature, bowed or bent leg, abnormal bone development, joint pain, dental caries33907069Exon 6
PHEX_0210c.674delp.Ala225Glufs*7PHEXSmall deletionFrameshiftPathogenic<521050253, 34806794Exon 6
PHEX_0211c.677delp.Thr226Asnfs*6PHEXSmall deletionFrameshiftPathogenic<516636593, 15057978, 34806794Exon 6
PHEX_0214c.682_683delp.Ser228Profs*9PHEXSmall deletionFrameshiftPathogenic<5hearing loss, renal calcification, hypothyroidism16636593, 9199930, 33639975, 21553362, 34806794Exon 6
PHEX_0213c.682dupp.Ser228Phefs*10PHEXSmall duplicationFrameshiftPathogenic<5Short Stature, Other Musculoskeletal Abnormalities21902834, 34806794Exon 6
PHEX_0215c.690C>Tp.Ala230=PHEXSNVSynonymousUncertain Significance<5Lower Limb Deformities11502829, 34806794Exon 6
PHEX_0216c.710A>Gp.Asp237GlyPHEXSNVMissenseLikely Pathogenic<510439971, 23079138, 16636593, 24926462, 12727977, 34806794Exon 6
PHEX_0835c.717_721delp.Ser239Argfs*23PHEXSmall deletionFrameshiftPathogenic<534806794Exon 6
PHEX_1019c.719delp.Thr240Lysfs*21PHEXSmall deletionFrameshiftPathogenic<5Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformitiesExon 6
PHEX_0217c.724delp.Ala242Profs*19PHEXSmall deletionFrameshiftPathogenic<534806794Exon 6
PHEX_0218c.732+1_732+2delp.?PHEXSmall deletionSplice donorPathogenic<5Other Musculoskeletal Abnormalities, bowed or bent legs, Lower Limb Deformities, dental abscesses, abnormal bone development, short stature27884786, 19219621, 32253725, 34806794Intron 6
PHEX_0836c.732+1G>Ap.?PHEXSplicingSplice donorPathogenic<532329911, 34806794Intron 6
PHEX_0219c.732+1G>Cp.?PHEXSplicingSplice donorPathogenic<5bowed or bent legs, dental caries32329911, 29460029, 34806794Intron 6
PHEX_0221c.732+1G>Tp.?PHEXSplicingSplice donorPathogenic<59097956, 24857004, 34806794Intron 6
PHEX_1020c.732+3A>TIntronicPHEXSplicingSplice donorUncertain Significance<5Lower limb deformities, Short StatureIntron 6
PHEX_0220c.732+4_732+5insCAIntronicPHEXSplicingIntronicUncertain Significance<534806794Intron 6
PHEX_0223c.733-2A>CSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic<534806794Intron 6
PHEX_1021c.733-2A>TSplice acceptorPHEXSplicingSplice acceptorPathogenic<5Gait abnormalities, Lower limb deformities, Short StatureIntron 6
PHEX_0224c.733-1G>Ap.?PHEXSplicingSplice acceptorPathogenic5-10Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate9097956, 34806794Intron 6
PHEX_0226c.733-1G>Cp.?PHEXSplicingSplice acceptorPathogenic<59097956, 34806794Intron 6
PHEX_0225c.733-1G>Tp.?PHEXSplicingSplice acceptorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Intron 6
PHEX_0222c.733-?_849+?delDeletion (Exon 7)PHEXCNVDeletionLikely Pathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Intron 6
PHEX_0837c.733-?_933+?delDeletion (Exons 7-8)PHEXCNVDeletionUNKNOWN<527884786, 34806794Exons 7-8
PHEX_0839c.733-?_1079+?delDeletion (Exons 7-9)PHEXCNVDeletionPathogenic<5Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate34806794Intron 6
PHEX_0838c.733-?_1302+?delDeletion (Exons 7-11)PHEXCNVDeletionUNKNOWN<532329911, 34806794Exons 7-11
PHEX_0227c.735T>Gp.Tyr245*PHEXSNVNonsensePathogenic<5genu varum, bowed or bent leg, nephrocalcinosis, renal dysfunction, hypertension21553362, 34806794Exon 7
PHEX_0840c.739delp.Asp247Metfs*14PHEXSmall deletionFrameshiftPathogenic<532329911, 34806794Exon 7
PHEX_0229c.750C>Ap.Tyr250*PHEXSNVNonsensePathogenic<59768674, 16636593, 34806794Exon 7
PHEX_0230c.750C>Gp.Tyr250*PHEXSNVNonsensePathogenic<5Short Stature, Other Musculoskeletal Abnormalities21902834, 34806794Exon 7
PHEX_0228c.750delp.Tyr250*PHEXSmall deletionFrameshiftPathogenic<5Lower Limb Deformities34806794Exon 7
PHEX_0231c.751A>Tp.Lys251*PHEXSNVNonsensePathogenic<516261449, 34806794Exon 7
PHEX_0233c.755T>Cp.Phe252SerPHEXSNVMissenseLikely Pathogenic<59106524, 16636593, 11502829, 34806794Exon 7
PHEX_1130c.?p.Met253IlePHEXMissenseLikely Pathogenic<511502829Exon 7
PHEX_0232c.759G>Ap.Met253IlePHEXSNVMissensePathogenic<516636593, 9106524, 34806794Exon 7
PHEX_0236c.763_784dupp.Ala262Glyfs*9PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 7
PHEX_0238c.766_767dupp.Ala257Leufs*5PHEXSmall duplicationFrameshiftPathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 7
PHEX_0237c.766A>Cp.Thr256ProPHEXSNVMissenseUncertain Significance<534806794Exon 7
PHEX_0841c.767_768delp.Thr256Serfs*7PHEXSmall deletionFrameshiftPathogenic<532897287, 34806794Exon 7
PHEX_0240c.779T>Gp.Leu260*PHEXSNVNonsensePathogenic<534806794Exon 7
PHEX_0241c.784G>Cp.Ala262ProPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities24926462, 23079138, 21902834, 34806794Exon 7
PHEX_0242c.800C>Ap.Ala267GluPHEXSNVMissensePathogenic<534806794Exon 7
PHEX_1022c.812T>Gp.Met271ArgPHEXSNVMissenseLikely Pathogenic<534141703Exon 7
PHEX_0243c.814A>Tp.Lys272*PHEXSNVNonsensePathogenic<534806794Exon 7
PHEX_0244c.819_845delp.Val274_Ala282delPHEXSmall deletionDeletionUncertain Significance<534806794Exon 7
PHEX_0245c.824T>Cp.Leu275ProPHEXSNVMissenseLikely Pathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, stunted growth, genu varum, teeth falling out34141703, 27840894, 34806794Exon 7
PHEX_0246c.830T>Ap.Leu277*PHEXSNVNonsensePathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities11502829, 23079138, 9106524, 16636593, 24926462, 34806794Exon 7
PHEX_0247c.832G>Ap.Glu278LysPHEXSNVMissenseLikely Pathogenic<5Skull Deformities, Lower Limb Deformities29610183, 34806794Exon 7
PHEX_0248c.832G>Tp.Glu278*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities10439971, 23079138, 16636593, 24926462, 34806794Exon 7
PHEX_0249c.840_849+1delPHEXSplicingSplice donorPathogenic<534806794Exon 7
PHEX_0250c.842T>Ap.Ile281LysPHEXSNVMissensePathogenic<5bowed or bent legs26377240, 32329911, 34806794Exon 7
PHEX_0251c.845C>Ap.Ala282AspPHEXSNVMissenseUncertain Significance<534806794Exon 7
PHEX_0252c.847_849+2delPHEXSplicingSplice donorPathogenic<534806794Exon 7
PHEX_0256c.849+1G>Ap.?PHEXSplicingSplice donorPathogenic<516636593, 12414858, 24857004, 20578943, 34806794Intron 7
PHEX_1023c.849+1G>Cp.?PHEXSplicingSplice donorPathogenic<5stunted growth, pectus carinatum, abnormal bone development34141703, 27840894Intron 7
PHEX_0254c.849+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities9097956, 21050253, 16636593, 19219621, 34806794Intron 7
PHEX_0842c.849+3A>Gp.?PHEXSplicingIntronicUncertain Significance<533295632, 34806794Intron 7
PHEX_0255c.849+6_849+7insTp.?PHEXSmall insertionIntronicUncertain Significance<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Intron 7
PHEX_1024c.849+128G>Ap.?PHEXSplicingIntronicBenign<519219621Intron 7
PHEX_0253c.849+1268G>Tp.?PHEXSplicingIntronicUncertain Significance<5Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities11502821, 34806794Intron 7
PHEX_0261c.850-15_853delinsTCTCTTGGPHEXSplicingSplice acceptorPathogenic<534806794Intron 7
PHEX_0260c.850-3C>Gp.?PHEXSplicingIntronicPathogenic<531102713, 16636593, 34806794Intron 7
PHEX_0257c.850-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic<534806794Intron 7
PHEX_0258c.850-?_933+?delDeletion (Exon 8)PHEXCNVDeletionLikely Pathogenic<5Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities34806794Intron 7
PHEX_0262c.850-?_1079+?delDeletion (Exons 8-9)PHEXCNVDeletionPathogenic<534806794Intron 7
PHEX_0259c.850delp.Ile284*PHEXSmall deletionNonsensePathogenic<522101457, 29460029, 34806794Exon 8
PHEX_0843c.853dupp.Met285Asnfs*5PHEXSmall duplicationFrameshiftPathogenic<5Reduced_TmP/GFR_(34806794Exon 8
PHEX_0263c.871C>Tp.Arg291*PHEXSNVNonsensePathogenic30+Other Musculoskeletal Abnormalities, Short Stature, Cardio Vascular Disease, Low....10439971, 9199930, 33358363, 30607568, 23466123, 29460029, 9768674, 32133333, 33639975, 32329911, 11502829, 26040324, 28506344, 11004247, 19219621, 33295632, 29707405, 16636593, 33537138, 22161748, 10874297, 34141703, 27840894, 34806794Exon 8
PHEX_0844c.874dupp.Thr292Asnfs*13PHEXSmall duplicationFrameshiftPathogenic<5Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate34806794Exon 8
PHEX_0264c.883delp.Ala295Profs*6PHEXSmall deletionFrameshiftPathogenic<534806794Exon 8
PHEX_0265c.888_890delinsCp.Tyr297*PHEXSmall insertionNonsensePathogenic<530607568, 34806794Exon 8
PHEX_0267c.888delinsATp.Met296Ilefs*9PHEXSmall insertionFrameshiftPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 8
PHEX_0845c.891C>Ap.Tyr297*PHEXSNVNonsensePathogenic<533639975, 34806794Exon 8
PHEX_0268c.891C>Gp.Tyr297*PHEXSNVNonsensePathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 8
PHEX_1025c.895A>Tp.Lys299*PHEXSNVNonsensePathogenic<5Exon 8
PHEX_0269c.897_898delp.Lys299Asnfs*5PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, radiological signs of rickets, abnormal dental development, Short Stature, short stature33639975, 21902834, 34806794Exon 8
PHEX_0270c.898delp.Met300*PHEXSmall deletionFrameshiftPathogenic<5Gait Abnormalities, Lower limb deformities, Lower Limb Deformities34806794Exon 8
PHEX_0846c.899_900delp.Met300Lysfs*4PHEXSmall deletionFrameshiftPathogenic<533295632, 34806794Exon 8
PHEX_0271c.904A>Gp.Ile302ValPHEXSNVMissensePathogenic<534806794Exon 8
PHEX_1026c.907delp.Ser303Leufs*3PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short StatureExon 8
PHEX_0272c.907T>Ap.Ser303ThrPHEXSNVMissenseUncertain Significance<530607568, 34806794Exon 8
PHEX_0273c.914T>Cp.Leu305ProPHEXSNVMissenseLikely Pathogenic<5Cardio Vascular Disease, Lower Limb Deformities, Kidney Disease, Thyroid18775977, 34806794Exon 8
PHEX_1027c.917delp.Ser306Metfs*3PHEXSmall deletionFrameshiftPathogenic<534141703Exon 8
PHEX_0274c.924_927dupp.Pro310Aspfs*15PHEXSmall duplicationFrameshiftPathogenic<5Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34806794Exon 8
PHEX_1106c.927delp.Gln311Serfs*20PHEXSmall deletionFrameshiftPathogenic<5abnormal bone development, bowed or bent leg, short stature32253725Exon 8
PHEX_0275c.931C>Tp.Gln311*PHEXSNVNonsensePathogenic5-10Other Musculoskeletal Abnormalities, Lower Limb Deformities, Bone and/or joint pain and/or joint stiffness, Short Stature, stunted growth, genu varum9097956, 16636593, 28506344, 19219621, 22161748, 34141703, 27840894, 34806794Exon 8
PHEX_1107c.931delp.Gln311Serfs*20PHEXSmall deletionFrameshiftPathogenic<534141703Exon 8
PHEX_0847c.931dupp.Gln311Profs*13PHEXSmall duplicationFrameshiftPathogenic<528506344, 34806794Exon 8
PHEX_0276c.933+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....30682568, 34806794Intron 8
PHEX_1028c.933+1G>Cp.?PHEXSplicingSplice donorPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725Intron 8
PHEX_0266c.933+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Bone and/or joint pain and/or joint stiffness, Lower limb deformities9199930, 34806794Intron 8
PHEX_0279c.933+2T>ASplice donorPHEXSplicingFrameshiftPathogenic<534806794Intron 8
PHEX_0278c.934-16_934-12delinsCTACCTAACTGAGATIntronicPHEXSplicingIntronicUncertain Significance<5Gait Abnormalities, Lower Limb Deformities34806794Intron 8
PHEX_1029c.934-12_936delp.?PHEXSmall deletionSplice acceptorLikely Pathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725Exon 9, Intron 8
PHEX_0277c.934-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic<59768674, 16636593, 34806794Intron 8
PHEX_0283c.934-1_937dupp.Asp313Glyfs*20PHEXSmall insertionFrameshiftPathogenic<516636593, 34806794Intron 8, exon 9
PHEX_1030c.934-1G>Ap.?PHEXSplicingSplice acceptorPathogenic<5bowed or bent legs, short stature28509123Intron 8
PHEX_0282c.934-1G>Tp.?PHEXSplicingSplice acceptorPathogenic<5Short Stature, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries24926462, 30599486, 34806794Intron 8
PHEX_0281c.934-?_1079+?delDeletion (Exon 9)PHEXCNVDeletionPathogenic<59199930, 34806794Intron 8
PHEX_0280c.934-?_*3357+?delDeletion (Exons 9-22)PHEXCNVDeletionPathogenic<534806794Intron 8
PHEX_1131c.?p.Trp314ArgPHEXMissenseLikely Pathogenic<522161748Exon 9
PHEX_1108c.940T>Cp.Trp314ArgPHEXSNVMissenseLikely Pathogenic<534141703Exon 9
PHEX_0284c.941G>Ap.Trp314*PHEXSNVNonsensePathogenic<534806794Exon 9
PHEX_0287c.?p.Trp314*PHEXSNVNonsensePathogenic<5Lower Limb Deformities11502829, 34806794Exon 9
PHEX_0286c.942G>Ap.Trp314*PHEXSNVNonsensePathogenic<5Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities16636593, 34806794Exon 9
PHEX_1031c.943_946delp.Leu315Alafs*15PHEXSmall deletionFrameshiftPathogenic<5Exon 9
PHEX_0288c.947G>Tp.Gly316ValPHEXSNVMissenseUncertain Significance<5Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities25861491, 34806794Exon 9
PHEX_0848c.949T>Ap.Tyr317AsnPHEXSNVMissenseLikely Pathogenic<532329911, 34806794Exon 9
PHEX_0289c.950A>Tp.Tyr317PhePHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities9768674, 16636593, 12727977, 22161748, 25861491, 21604088, 22713460, 10439971, 34806794Exon 9
PHEX_0290c.956dupp.Lys320Glufs*4PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 9
PHEX_0291c.958_960delp.Lys320delPHEXSmall deletionDeletionUncertain Significance<5Gait Abnormalities, Lower Limb Deformities26377240, 22695891, 34806794Exon 9
PHEX_0292c.961_962insAGTTACTGp.Val321Glufs*13PHEXSmall insertionFrameshiftPathogenic<516636593, 9097956, 34806794Exon 9
PHEX_0293c.962ins8FrameshiftPHEXSmall insertionFrameshiftPathogenic<59768674, 34806794Exon 9
PHEX_0295c.978_979dupp.Tyr327Serfs*5PHEXSmall duplicationFrameshiftPathogenic<519219621, 34806794Exon 9
PHEX_0296c.979_983dupp.His329Thrfs*4PHEXSmall duplicationFrameshiftPathogenic<5Short Stature, Lower Limb Deformities29505567, 34806794Exon 9
PHEX_0299c.981C>Gp.Tyr327*PHEXSNVNonsensePathogenic<5Tooth Abscesses and/or Excessive Dental Caries34806794Exon 9
PHEX_0300c.985dupp.His329Profs*20PHEXSmall insertionFrameshiftPathogenic<59768674, 16636593, 9768675, 9097956, 34806794Exon 9
PHEX_1109c.986_1004delATCTGAAAGACATCAGCCCp.His329Profs*20PHEXSmall deletionFrameshiftPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg32253725Exon 9
PHEX_0301c.994delp.Asp332Thrfs*23PHEXSmall deletionFrameshiftPathogenic<534806794Exon 9
PHEX_0849c.998_1000delp.Ile333delPHEXSmall deletionDeletionPathogenic<532329911, 34806794Exon 9
PHEX_0303c.1002_1003insGp.Pro335Alafs*14PHEXSmall insertionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 9
PHEX_0302c.1005delp.Ser336Profs*19PHEXSmall deletionFrameshiftPathogenic<522577109, 34806794Exon 9
PHEX_0304c.1008dupp.Glu337Argfs*12PHEXSmall insertionMissensePathogenic<521994957, 34806794Exon 9
PHEX_0305c.1009G>Tp.Glu337*PHEXSNVNonsensePathogenic<534806794Exon 9
PHEX_0306c.1013_1018delp.Asn338_Val340delinsMetPHEXSmall deletionDeletion/InsertionLikely Pathogenic<516636593, 15057978, 34806794Exon 9
PHEX_0850c.1009_1405-9282delPartial Deletion (Exons 9-12)PHEXSplicingSplice donorPathogenic<5Reduced Serum Phosphate34806794Intron 8
PHEX_1032c.1016T>Ap.Val339GluPHEXSNVMissenseLikely Pathogenic<534141703Exon 9
PHEX_0307c.1020_1022delp.Val341delPHEXSmall deletionDeletionUncertain Significance<5Reduced_TmP/GFR_(16636593, 34806794Exon 9
PHEX_0308c.1021delp.Val341Serfs*14PHEXSmall deletionFrameshiftPathogenic<534806794Exon 9
PHEX_0309c.1022dupp.Arg342Profs*7PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 9
PHEX_0851c.1027G>Ap.Val343IlePHEXSNVMissenseUncertain Significance<5Lower limb deformities, Reduced Serum Phosphate34806794Exon 9
PHEX_0310c.1033C>Tp.Gln345*PHEXSNVNonsensePathogenic<522101457, 29460029, 34806794Exon 9
PHEX_0311c.1034delp.Gln345Argfs*10PHEXSmall deletionFrameshiftPathogenic<522577109, 34806794Exon 9
PHEX_0312c.1036T>Gp.Tyr346AspPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 22161748, 34806794Exon 9
PHEX_0313c.1037A>Gp.Tyr346CysPHEXSNVMissenseUncertain Significance<534806794Exon 9
PHEX_1033c.1038C>Ap.Tyr346*PHEXSNVNonsensePathogenic<534141703Exon 9
PHEX_0314c.1042A>Tp.Lys348*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities16636593, 9097956, 19219621, 22161748, 34806794Exon 9
PHEX_0315c.1044delp.Asp349Ilefs*6PHEXSmall deletionFrameshiftPathogenic<521050253, 32619592, 34806794Exon 9
PHEX_1034c.1046A>Gp.Asp349GlyPHEXSNVMissenseLikely Pathogenic<5Exon 9
PHEX_0316c.1046dupp.Asp349Glufs*4PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 9
PHEX_1122c.1052_1053ins?p.Phe351fsPHEXSmall insertionPathogenic<5Lower limb deformities, Short StatureExon 9
PHEX_0852c.1053_1077dupp.Lys360*PHEXSmall duplicationNonsensePathogenic<5Gait abnormalities, Lower limb deformities34806794Exon 9
PHEX_1035c.1065delp.Ser356Leufs*37PHEXSmall deletionFrameshiftPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725Exon 9
PHEX_0318c.1076delp.Lys359Argfs*34PHEXSmall deletionFrameshiftPathogenic<516636593, 9097956, 34806794Exon 9
PHEX_0321c.1079+1G>Ap.?PHEXSplicingSplice donorPathogenic5-10Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities32329911, 32133333, 15057978, 21050253, 16636593, 33639975, 34806794Intron 9
PHEX_0322c.1079+1G>Tp.?PHEXSplicingSplice donorPathogenic<5radiological signs of rickets, short stature, abnormal bone development33639975, 30607568, 34806794Intron 9
PHEX_0320c.1079+2_1079+5delp.?PHEXSmall deletionSplice donorPathogenic<515057978, 19219621, 34141703, 34806794Intron 9
PHEX_0319c.1079+2T>Gp.?PHEXSplicingSplice donorPathogenic<5Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities10439971, 23079138, 16636593, 24926462, 34806794Intron 9
PHEX_0326c.1080-3C>Ap.?PHEXSplicingIntronicPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities31102713, 26107949, 34806794Intron 9
PHEX_0329c.1080-2A>Cp.?PHEXSplicingSplice acceptorPathogenic5-10Other Musculoskeletal Abnormalities, Lower Limb Deformities26904698, 31102713, 34806794Intron 9
PHEX_0330c.1080-2A>Gp.?PHEXSplicingSplice acceptorPathogenic5-10Other Musculoskeletal Abnormalities, Cardio Vascular Disease, Lower Limb Deformi....26051471, 9097956, 34806794Intron 9
PHEX_0328c.1080-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic<534806794Intron 9
PHEX_0327c.1080-?_1173+?delDeletion (Exon 10)PHEXCNVDeletionPathogenic<534806794Intron 9
PHEX_0325c.1080-?_1302+?delDeletion (Exons 10-11)PHEXCNVDeletionPathogenic5-10Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Ab....16636593, 32253725, 34806794Intron 9
PHEX_1123c.1080-?_1404+?delDeletion (Exons 10-12)PHEXDeletionDeletionUNKNOWN<534141703Exon 10 - 12
PHEX_1036c.1087G>Cp.Ala363ProPHEXSNVMissensePathogenic<5Exon 10
PHEX_0331c.1088C>Tp.Ala363ValPHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities19513579, 34806794Exon 10
PHEX_0332c.1092C>Ap.Asn364LysPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 10
PHEX_0333c.1103G>Ap.Trp368*PHEXSNVNonsensePathogenic5-10Reduced Serum Phosphate31903094, 15057978, 16636593, 22695891, 34806794Exon 10
PHEX_1037c.1104_1106dupGAGp.Arg369dupPHEXSmall insertionInsertionLikely Pathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725Exon 10
PHEX_0334c.1104G>Ap.Trp368*PHEXSNVNonsensePathogenic<534806794Exon 10
PHEX_0335c.1105A>Tp.Arg369*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, ....24926462, 23079138, 21902834, 34806794Exon 10
PHEX_0336c.1106_1108dupp.Arg369dupPHEXSmall duplicationInsertionPathogenic<534806794Exon 10
PHEX_0337c.1109T>Gp.Met370ArgPHEXSNVMissenseLikely Pathogenic5-10Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities18625346, 34806794Exon 10
PHEX_0338c.1110_1111insAAGp.Met370_Val371insLysPHEXSmall insertionInsertionLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 10
PHEX_0339c.1116T>Ap.Tyr372*PHEXSNVNonsensePathogenic<534806794Exon 10
PHEX_0340c.1118C>Tp.Ser373PhePHEXSNVMissenseLikely Pathogenic<521050253, 34806794Exon 10
PHEX_0341c.1133T>Cp.Leu378ProPHEXSNVMissenseUncertain Significance<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities11502829, 23079138, 16636593, 24926462, 34806794Exon 10
PHEX_0342c.1134delp.Ser379Alafs*14PHEXSmall deletionFrameshiftPathogenic<516636593, 9199930, 34806794Exon 10
PHEX_0343c.1137_1149delp.Arg380Ilefs*9PHEXSmall deletionFrameshiftPathogenic<534806794Exon 10
PHEX_1038c.1138delp.Arg380Glyfs*13PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Lower limb deformities, Short Stature, Gait abnormalities, T....Exon 10
PHEX_0344c.1142G>Ap.Arg381HisPHEXSNVMissenseUncertain Significance<534806794Exon 10
PHEX_0345c.1146delp.Gln383Serfs*10PHEXSmall deletionFrameshiftPathogenic<534806794Exon 10
PHEX_0346c.1147C>Tp.Gln383*PHEXSNVNonsensePathogenic<534806794Exon 10
PHEX_0347c.1152dupp.Arg385*PHEXSmall insertionFrameshiftPathogenic<523813354, 23813354, 34806794Exon 10
PHEX_0348c.1152T>Gp.Tyr384*PHEXSNVNonsensePathogenic5-10Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities21994957, 19219621, 34806794Exon 10
PHEX_0349c.1157G>Ap.Trp386*PHEXSNVNonsensePathogenic<5bowed or bent legs, dental caries, Lower Limb Deformities32329911, 34806794Exon 10
PHEX_0351c.?p.Trp386*PHEXSNVNonsensePathogenic<522101457, 34806794Exon 10
PHEX_0350c.1158G>Ap.Trp386*PHEXSNVNonsensePathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities25894638, 16636593, 29460029, 34806794Exon 10
PHEX_0352c.1164dupp.Phe389Ilefs*23PHEXSmall insertionFrameshiftPathogenic<521050253, 34806794Exon 10
PHEX_0353c.1166delp.Phe389Serfs*4PHEXSmall deletionFrameshiftPathogenic<5Lower Limb Deformities16636593, 11502829, 34806794Exon 10
PHEX_1039c.1167_1173+17delp.?PHEXSmall deletionSplice donorPathogenic<5abnormal bone development, bowed or bent leg, short stature32253725Exon 10, Intron 10
PHEX_1040c.1168delp.Ser390Glnfs*3PHEXSmall deletionFrameshiftPathogenic<5Lower limb deformities, Short StatureExon 10
PHEX_0355c.1173+1delSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 10
PHEX_0356c.1173+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Gait Abnormalities, Lower Limb Deformities24926462, 23079138, 21902834, 34141703, 34806794Intron 10
PHEX_0354c.1173+1G>Cp.?PHEXSplicingSplice donorPathogenic<525086671Intron 10
PHEX_0359c.1173+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature22101457, 29460029, 34806794Intron 10
PHEX_0357c.1173+2T>CSplice donorPHEXSplicingSplice donorPathogenic11-20Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Lower Limb Deformities34806794Intron 10
PHEX_0358c.1173+5G>AIntronicPHEXSplicingIntronicLikely Pathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Intron 10
PHEX_1041c.1174-937T>Gp.?PHEXSplicingIntronicBenign<521644943Intron 10
PHEX_1042c.1174-3C>Gp.?PHEXSplicingIntronicLikely Pathogenic<534141703Intron 10
PHEX_0853c.1174-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic<534141703, 34806794Intron 10
PHEX_0362c.1174-1G>Ap.?PHEXSplicingSplice acceptorPathogenic5-10Short Stature, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, genu varum, stunted growth, short stature24836714, 18162710, 28506344, 30599486, 27840894, 34141703, 34806794Intron 10
PHEX_0360c.1174-?_1302+?delDeletion (Exon 11)PHEXCNVDeletionPathogenic<534806794Intron 10
PHEX_0363c.1180C>Tp.Gln394*PHEXSNVNonsensePathogenic5-10Lower Limb Deformities19513579, 15057978, 34806794Exon 11
PHEX_0364c.1183G>Cp.Gly395ArgPHEXSNVMissenseLikely Pathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities24836714, 34806794Exon 11
PHEX_0365c.1185delp.Thr396Profs*12PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities15057978, 19219621, 34806794Exon 11
PHEX_0366c.1204C>Tp.Gln402*PHEXSNVNonsensePathogenic<5abnormal bone development33639975, 34806794Exon 11
PHEX_0368c.1206A>Gp.Gln402GlnPHEXSNVMissenseLikely Benign<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 11
PHEX_0367c.1206delp.Gln402Hisfs*6PHEXSmall deletionFrameshiftPathogenic<5Short Stature, Lower Limb Deformities29505567, 34806794Exon 11
PHEX_0369c.1208G>Ap.Trp403*PHEXSNVNonsensePathogenic5-10Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities26377240, 19219621, 33666701, 34806794Exon 11
PHEX_0370c.1209G>Ap.Trp403*PHEXSNVNonsensePathogenic11-20Short Stature, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries30920082, 15057978, 9097956, 16636593, 34806794Exon 11
PHEX_0371c.1210delp.Asp404Thrfs*4PHEXSmall deletionFrameshiftPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 11
PHEX_0372c.1211_1215delinsTTTACATp.Asp404Valfs*5PHEXSmall insertionFrameshiftPathogenic<526107949, 34806794Exon 11
PHEX_1132c.?p.Cys406SerPHEXMissenseLikely Pathogenic<525042154Exon 11
PHEX_0376c.1216T>Ap.Cys406SerPHEXSNVMissenseLikely Pathogenic<530682568, 24756041Exon 11
PHEX_0373c.1216T>Cp.Cys406ArgPHEXSNVMissensePathogenic<5Short Stature, Bone Density Abnormalities, Lower Limb Deformities29505567, 24756041, 34806794Exon 11
PHEX_0374c.1217G>Ap.Cys406TyrPHEXSNVMissensePathogenic<5Lower Limb Deformities24926462, 23079138, 29505567, 34806794Exon 11
PHEX_0375c.1217G>Tp.Cys406PhePHEXSNVMissensePathogenic<5Short Stature, Lower Limb Deformities29460029, 29505567, 34806794Exon 11
PHEX_0854c.1218T>Ap.Cys406*PHEXSNVNonsensePathogenic<5Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures34806794Exon 11
PHEX_1043c.1220T>Gp.Val407GlyPHEXSNVMissenseUncertain Significance<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....Exon 11
PHEX_0377c.1224delp.Phe409Leufs*15PHEXSmall deletionFrameshiftPathogenic<5Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34141703, 34806794Exon 11
PHEX_1044c.1234delp.Ser412Valfs*12PHEXSmall deletionFrameshiftPathogenic5-10abnormal bone development, pectus carinatum, bowed or bent leg, short stature34141703, 27840894Exon 11
PHEX_0378c.1237G>Cp.Ala413ProPHEXSNVMissenseLikely Pathogenic5-1034806794Exon 11
PHEX_0379c.1251delp.Val418Leufs*6PHEXSmall deletionFrameshiftPathogenic<534806794Exon 11
PHEX_0380c.1263delp.Met421Ilefs*3PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 11
PHEX_0381c.1269delp.Asp424Metfs*11PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities10439971, 16636593, 34806794Exon 11
PHEX_0382c.1270_1271delp.Asp424Cysfs*7PHEXSmall deletionFrameshiftPathogenic<515057978, 34806794Exon 11
PHEX_1133c.?p.Tyr426*PHEXNonsensePathogenic<5bowed or bent legs, dental abscesses11502829Exon 11
PHEX_0383c.1278C>Gp.Tyr426*PHEXSNVNonsensePathogenic5-1016636593, 34806794Exon 11
PHEX_0384c.1282C>Tp.Gln428*PHEXSNVNonsensePathogenic<5Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature16636593, 15057978, 14564066, 34806794Exon 11
PHEX_0385c.1294A>Tp.Lys432*PHEXSNVNonsensePathogenic5-10Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental C....23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794Exon 11
PHEX_0394c.1301-?_1899+?delDeletion (Exons 12-18)PHEXCNVDeletionUncertain Significance<534806794Exons 12-18
PHEX_0386c.1302+1G>Ap.?PHEXSplicingSplice donorPathogenic5-10muscle weakness, bowed or bent legs, Gait abnormalities, Lower limb deformities,....26377240, 32329911, 9097956, 32253725, 34806794Intron 11
PHEX_0388c.1302+1G>CSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 11
PHEX_0387c.1302+1G>Tp.?PHEXSplicingSplice donorLikely Pathogenic<59097956, 16636593, 34806794Intron 11
PHEX_0855c.1302+4_1302+10delIntronicPHEXSmall deletionSplice donorLikely Pathogenic<5Lower limb deformities34806794Intron 11
PHEX_1045c.1303-3589C>Gp.?PHEXSplicingIntronicUncertain Significance<516183656Intron 11
PHEX_1046c.1303-1G>Cp.?PHEXSplicingSplice acceptorPathogenic<534141703Intron 11
PHEX_0396c.1303-1G>Tp.?PHEXSplicingSplice acceptorPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities26051471, 34806794Intron 11
PHEX_0390c.?Intron 12 - Exon 13PHEXCNVUnknownLikely Pathogenic<534806794Intron 12 - Exon 13
PHEX_1134c.?Partial deletion (Exon 12)PHEXPathogenic<5Reduced_TmP/GFR_(Exon 12
PHEX_0392c.1303-?_1404+?delDeletion (Exon 12)PHEXCNVDeletionPathogenic5-10Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Lower li....16636593, 32329911, 9199930, 32253725, 33666701, 34141703, 34806794Intron 11
PHEX_0393c.1303-?_1404+?dupGain (Exon 12)PHEXCNVDuplicationPathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Intron 11
PHEX_0395c.1303-?_1482+?dupGain (Exons 12-13)PHEXCNVDuplicationUncertain Significance<5Lower Limb Deformities34806794Intron 11
PHEX_0389c.1303-?_2070+?dupGain (Exons 12-20)PHEXCNVDuplicationUncertain Significance<534806794Intron 11
PHEX_1124c.1303-?_1645+?dupGain (Exons 12-15)PHEXLikely Pathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short StatureExon 12 - 15
PHEX_0398c.1304T>Gp.Met435ArgPHEXSplicingIntronicUncertain Significance<5Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities34806794Exon 12
PHEX_0399c.1305_1306insCp.Glu436Argfs*5PHEXSmall insertionFrameshiftPathogenic<521050253, 34806794Exon 12
PHEX_0401c.1309dupp.Glu437Glyfs*4PHEXSmall duplicationFrameshiftPathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Exon 12
PHEX_0402c.1309G>Tp.Glu437*PHEXSNVNonsensePathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 12
PHEX_0404c.1313delp.Leu438Trpfs*13PHEXSmall deletionFrameshiftPathogenic<534806794Exon 12
PHEX_0403c.1313T>Cp.Leu438SerPHEXSNVMissenseLikely Pathogenic<534806794Exon 12
PHEX_0405c.1313T>Gp.Leu438TrpPHEXSNVMissenseLikely Pathogenic<522695891, 34806794Exon 12
PHEX_0406c.1319_1321delp.Glu440delPHEXSmall deletionDeletionLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 12
PHEX_0407c.1324G>Tp.Val442PhePHEXSNVMissenseLikely Pathogenic<5radiological signs of rickets, short stature, abnormal bone development33639975, 15057978, 34806794Exon 12
PHEX_0409c.1328G>Ap.Arg443HisPHEXSNVMissenseUncertain Significance<534806794Exon 12
PHEX_0408c.1328G>Cp.Arg443ProPHEXSNVMissenseUncertain Significance<534806794Exon 12
PHEX_0410c.1331G>Ap.Trp444*PHEXSNVNonsensePathogenic<5dental caries32329911, 22695891, 34806794Exon 12
PHEX_0412c.1332_1333insAACp.Trp444_Ala445insAsnPHEXSmall insertionInsertionLikely Pathogenic<511004247, 16636593, 34806794Exon 12
PHEX_0411c.1332G>Ap.Trp444*PHEXSNVNonsensePathogenic5-10Bone and/or Joint Pain and/or Joint Stiffness, short stature, Lower Limb Deformi....24836714, 29901142, 34141703, 34806794Exon 12
PHEX_1047c.1333delp.Ala445Profs*6PHEXSmall deletionFrameshiftPathogenic<5abnormal bone development, bowed or bent leg32253725Exon 12
PHEX_0856c.1334C>Ap.Ala445AspPHEXSNVMissenseLikely Pathogenic<5Fractures/pseudo-fractures, Lower limb deformities34806794Exon 12
PHEX_0413c.1335delp.Phe446Leufs*5PHEXSmall deletionFrameshiftPathogenic<534806794Exon 12
PHEX_0857c.1337delinsAATAAp.Phe446*PHEXSmall insertionNonsensePathogenic<529707405, 34806794Exon 12
PHEX_0414c.1349T>Cp.Leu450ProPHEXSNVMissenseLikely Pathogenic<521050253, 34806794Exon 12
PHEX_0415c.1351G>Tp.Glu451*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities10439971, 23079138, 16636593, 24926462, 34806794Exon 12
PHEX_0416c.1357_1360delp.Glu453Metfs*29PHEXSmall deletionFrameshiftPathogenic<529460029, 34806794Exon 12
PHEX_0417c.1363G>Tp.Glu455*PHEXSNVNonsensePathogenic5-10Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities10439971, 23079138, 16636593, 24926462, 22261628, 18162710, 30599486, 34806794Exon 12
PHEX_0418c.1366T>Ap.Trp456ArgPHEXSNVMissenseLikely Pathogenic<529460029, 34806794Exon 12
PHEX_1048c.1366T>Gp.Trp456GlyPHEXSNVMissenseLikely Pathogenic<533666701Exon 12
PHEX_0422c.?p.Trp456CysPHEXSNVMissenseLikely Pathogenic5-10short stature, abnormal bone development10439971, 22101457, 12001226, 34806794Exon 12
PHEX_0419c.1367G>Ap.Trp456*PHEXSNVNonsensePathogenic5-10abnormal bone development, pectus carinatum, bowed or bent leg, short stature9199930, 16636593, 30607568, 33639975, 32253725, 34806794Exon 12
PHEX_0420c.1368G>Ap.Trp456*PHEXSNVNonsensePathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities22577109, 34806794Exon 12
PHEX_0421c.1368G>Cp.Trp456CysPHEXSNVMissensePathogenic<529460029, 34806794Exon 12
PHEX_0858c.1382C>Ap.Thr461LysPHEXSNVMissenseLikely Pathogenic<5Lower limb deformities, Tooth abscesses and/or excessive dental caries34806794Exon 12
PHEX_0423c.1382C>Gp.Thr461ArgPHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities34806794Exon 12
PHEX_0424c.1387delp.Arg463Glyfs*20PHEXSmall deletionFrameshiftPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 12
PHEX_0859c.1387dupp.Arg463Lysfs*23PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 12
PHEX_0425c.1394C>Ap.Ala465AspPHEXSNVMissenseUncertain Significance<534806794Exon 12
PHEX_0860c.1398dupp.Glu467Argfs*19PHEXSmall duplicationFrameshiftPathogenic<5Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate34806794Exon 12
PHEX_0426c.1399G>Tp.Glu467*PHEXSNVNonsensePathogenic<5Gait Abnormalities, Lower Limb Deformities16636593, 34141703, 34806794Exon 12
PHEX_0427c.1400_1404delp.Glu467Glyfs*17PHEXSmall deletionFrameshiftPathogenic<516636593, 15057978, 34806794Exon 12
PHEX_0428c.1402A>Gp.Lys468GluPHEXSplicingMissenseUncertain Significance<5bone pain, bowed or bent legs32329911, 34806794Exon 12
PHEX_0429c.1403A>Cp.Lys468ThrPHEXSplicingIntronicPathogenic<5Reduced Serum Phosphate34806794Exon 12
PHEX_0430c.1403delp.Lys468Argfs*15PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities16636593, 19219621, 34806794Exon 12
PHEX_0432c.1404G>Cp.Lys468AsnPHEXSplicingMissenseLikely Pathogenic<5Lower Limb Deformities33358363, 33639975, 34806794Exon 12
PHEX_1110c.1404G>Tp.Lys468AsnPHEXSNVMissenseLikely Pathogenic<5abnormal bone development, bowed or bent leg, short stature32253725Exon 12
PHEX_0433c.1404+1delp.?PHEXSmall deletionSplice donorPathogenic<5Short Stature, Lower Limb Deformities29505567, 34806794Intron 12
PHEX_0431c.1404+2_1404+6delp.?PHEXSplicingSplice donorPathogenic<5Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries22695891, 34806794Intron 12
PHEX_1049c.1404+9251G>Ap.?PHEXSplicingIntronicBenign<521326311Intron 12
PHEX_1050c.1405-6860C>Tp.?PHEXSplicingIntronicBenign<520018918Intron 12
PHEX_0863Partial Deletion(Exon 13)PHEXCNVDeletionLikely Pathogenic<5Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries34806794Exon 13
PHEX_1135Complex Rearrangement/Intron 12 - Exon 13Intron 12 - Exon 13PHEXLikely Pathogenic<5Short StatureIntron 12 - Exon 13
PHEX_1136c.?Partial deletion (Exon 13)PHEXLikely Pathogenic<5Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Bone and/or join....Exon 13
PHEX_0862c.1405_?delp.Ala469_?delPHEXSmall deletionDeletionUNKNOWN<533639975, 34806794Exon 13
PHEX_0861c.1405-?_1482+?delDeletion (Exon 13)PHEXCNVDeletionLikely Pathogenic<5Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries34806794Intron 12
PHEX_0439c.1406_1488delPHEXSmall deletionFrameshiftUncertain Significance<516636593, 34806794Exon 13
PHEX_0440c.1405-?_1645+?delDeletion (Exons 13-15)PHEXCNVDeletionLikely Pathogenic<524926462, 23079138, 21902834, 34806794Exon 13 - 15
PHEX_0437c.1405-?_1645+?dupGain (Exons 13-15)PHEXCNVDuplicationPathogenic30+Fractures/Pseudo-Fractures, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities34806794Intron 12
PHEX_0434c.1405-?_2070+?dupGain (Exons 13-20)PHEXCNVDuplicationLikely Pathogenic<5Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures34806794Intron 12
PHEX_0436c.1405-?_*3357+?delDeletion (Exons 13-22)PHEXCNVDeletionPathogenic5-10Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Reduced_TmP/GFR_....24926462, 21902834, 23079138, 34806794Intron 12
PHEX_1051c.1406C>Ap.Ala469GluPHEXSNVMissenseLikely Pathogenic<533666701Exon 13
PHEX_0442c.1412_1417delp.Ala471_Leu473delinsValPHEXSmall deletionDeletionUncertain Significance<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 13
PHEX_1052c.1415T>Ap.Val472AspPHEXSNVMissenseLikely Pathogenic<534141703Exon 13
PHEX_1053c.1426G>Ap.Val476IlePHEXSNVMissenseUncertain Significance<5Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fracturesExon 13
PHEX_0443c.1434T>Ap.Tyr478*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities16636593, 9097956, 19219621, 34806794Exon 13
PHEX_0864c.1446_1452delp.Ile482Metfs*30PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries34806794Exon 13
PHEX_1054c.1461delp.His487Glnfs*27PHEXSmall deletionFrameshiftPathogenic<5short stature, pain, bowed or bent leg, dental abscesses34141703, 33796255Exon 13
PHEX_0444c.1471delp.Asp491Thrfs*23PHEXSmall deletionFrameshiftPathogenic<5bowed or bent legs, Other Musculoskeletal Abnormalities, Lower Limb Deformities27884786, 19219621, 34806794Exon 13
PHEX_0445c.1474delp.Leu492Serfs*22PHEXSmall deletionFrameshiftPathogenic<529460029, 34806794Exon 13
PHEX_0453c.1482+1G>ASplice donorPHEXSplicingSplice donorPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Intron 13
PHEX_0451c.1482+1G>Cp.?PHEXSplicingSplice donorPathogenic5-10Lower Limb Deformities9768674, 21050253, 24926462, 16636593, 31102713, 34141703, 34806794Intron 13
PHEX_0447c.1482+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Lower Limb Deformities23079138, 11502829, 34806794Intron 13
PHEX_0449c.1482+2T>GSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 13
PHEX_0448c.1482+3_1482+4delinsTp.?PHEXDeletion/InsertionIntronicUncertain Significance<519219621, 34806794Intron 13
PHEX_0450c.1482+3A>CIntronicPHEXSplicingIntronicPathogenic5-10Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries34806794Intron 13
PHEX_0452c.1482+4delp.?PHEXSplicingIntronicLikely Pathogenic<5Short Stature, Other Musculoskeletal Abnormalities24926462, 33639975, 21902834, 34806794Intron 13
PHEX_0446c.1482+5G>Cp.?PHEXSplicingIntronicPathogenic<5Fractures/Pseudo-Fractures, Lower Limb Deformities, gait disturbance, abnormal bone development, bowed or bent leg, cupping and fraying of metaphyses31102713, 16636593, 29460029, 34275936, 34806794Intron 13
PHEX_1055c.1483-1012C>Tp.?PHEXSplicingIntronicBenign<528900292Intron 13
PHEX_1056c.1483-804T>Ap.?PHEXSplicingIntronicPathogenic<5ossified posterior longitudinal ligament, ossified anterior longitudinal ligamen....33953992Intron 13
PHEX_0458c.1483-2A>Gp.?PHEXSplicingSplice acceptorPathogenic<5Lower Limb Deformities24926462, 23079138, 25031893, 34806794Intron 13
PHEX_0454c.1483-1G>Ap.?PHEXSplicingSplice acceptorPathogenic5-10bowed or bent legs, lumbar hyperlordosis, knock knee, Lower Limb Deformities, Gait Abnormalities22577109, 33295632, 34806794Intron 13
PHEX_0457c.1483-1G>Cp.?PHEXSplicingSplice acceptorPathogenic11-20Short Stature, genu varum, Lower limb deformities, Fractures/Pseudo-Fractures, G....31567381, 27840894, 34218635, 34141703, 34806794Intron 13
PHEX_0455c.1483-?_1586+?delDeletion (Exon 14)PHEXCNVDeletionPathogenic<533295632, 34806794Exon 14
PHEX_0456c.1483-?_1645+?delDeletion (Exons 14-15)PHEXCNVDeletionPathogenic<534806794Intron 13
PHEX_0460c.?p.Lys496*PHEXSNVNonsensePathogenic5-1023700148, 29381780, 22573557, 22006791, 28005411, 34806794Exon 14
PHEX_0461c.1491_1509delp.Phe497Leufs*11PHEXSmall deletionFrameshiftPathogenic<526377240, 34806794Exon 14
PHEX_0462c.1503_1504insGACTp.Tyr502Aspfs*17PHEXSmall insertionFrameshiftPathogenic<5abnormal bone development24926462, 23079138, 16636593, 10439971, 34806794Exon 14
PHEX_1057c.1506C>Gp.Tyr502*PHEXSNVNonsensePathogenic<533666701Exon 14
PHEX_0463c.1519C>Gp.Leu507ValPHEXSNVMissenseUncertain Significance<5Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 14
PHEX_0464c.1520T>Cp.Leu507ProPHEXSNVMissenseUncertain Significance<534806794Exon 14
PHEX_0465c.1522C>Tp.Gln508*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities21050253, 19219621, 22695891, 34806794Exon 14
PHEX_0466c.1523_1537delp.Gln508_Tyr512delPHEXSmall deletionDeletionLikely Pathogenic<515057978, 34806794Exon 14
PHEX_1111c.1525delAp.Thr509Leufs*5PHEXSmall deletionFrameshiftPathogenic<5Exon 14
PHEX_0468c.1529G>Cp.Arg510ProPHEXSNVMissenseLikely Pathogenic<5Short Stature, Other Musculoskeletal Abnormalities23079138, 15057978, 16636593, 24926462, 21902834, 34806794Exon 14
PHEX_0469c.1531A>Tp.Lys511*PHEXSNVNonsensePathogenic<534806794Exon 14
PHEX_0467c.1532delp.Lys511Serfs*3PHEXSmall deletionFrameshiftPathogenic11-20Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities18625346, 11502829, 16636593, 34806794Exon 14
PHEX_0471c.1535delp.Tyr512Phefs*2PHEXSmall deletionFrameshiftPathogenic<5Lower Limb Deformities34806794Exon 14
PHEX_0865c.1540G>Cp.Ala514ProPHEXSNVMissensePathogenic<532329911, 34806794Exon 14
PHEX_0867c.1543_1544delp.Gln515Valfs*2PHEXSmall deletionFrameshiftPathogenic<533639975, 34806794Exon 14
PHEX_0472c.1543C>Tp.Gln515*PHEXSNVNonsensePathogenic5-10Reduced_TmP/GFR_(26377240, 23079138, 24926462, 21902834, 31927522, 34806794Exon 14
PHEX_0866c.1543delp.Gln515SerfsTer7PHEXSmall deletionFrameshiftPathogenic<532329911, 34806794Exon 14
PHEX_0473c.1553delp.Phe518Serfs*4PHEXSmall deletionFrameshiftPathogenic<5Short Stature, Hearing Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries25060345, 34806794Exon 14
PHEX_0474c.1560delp.Trp520Cysfs*2PHEXSmall deletionFrameshiftPathogenic<523079138, 16636593, 24926462, 9199930, 34806794Exon 14
PHEX_0868c.1566_1570delp.Arg522Serfs*58PHEXSmall deletionFrameshiftPathogenic<532619592, 34806794Exon 14
PHEX_0475c.1572dupp.Val525Argfs*57PHEXSmall insertionFrameshiftPathogenic<516636593, 9199930, 34806794Exon 14
PHEX_0484c.1586_1586+1delp.?PHEXSmall deletionSplice donorPathogenic11-20stunted growth, pectus carinatum, abnormal bone development, genu varum19429806, 10439971, 24229582, 19219621, 27840894, 34141703, 34806794, 23079138, 30599486, 24926462Exon 14 - 15, Intron 14
PHEX_1058c.1585_1586delp.Glu529Valfs*52PHEXSmall deletionFrameshiftPathogenic<5Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short StatureExon 14
PHEX_0479c.1586+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature28506344, 26051471, 31102713, 29505567, 34806794Intron 14
PHEX_0481c.1586+1G>CSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 14
PHEX_0477c.1586+1G>TSplice donorPHEXSplicingSplice donorPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725, 34806794Intron 14
PHEX_0483c.1586+2T>ASplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 14
PHEX_0482c.1586+2T>Gp.?PHEXSplicingSplice donorPathogenic<5Short Stature, Lower Limb Deformities29505567, 34806794Intron 14
PHEX_0480c.1586+3_1586+6delp.Glu529Valfs*52PHEXSmall deletionIntronic, FrameshiftPathogenic11-20Other Musculoskeletal Abnormalities, Reduced Serum Phosphate, Lower Limb Deformi....10439971, 32329911, 11502829, 9106524, 22695891, 24926462, 19219621, 18625346, 34806794Intron 14, Exon 14 - 15
PHEX_0870c.1586+3G>TIntronicPHEXSplicingSplice donorLikely Pathogenic<5Reduced Serum Phosphate34141703, 34806794Intron 14
PHEX_0869c.1586+5G>AIntronicPHEXSplicingIntronicPathogenic<5Gait abnormalities, Lower limb deformities34806794Intron 14
PHEX_0871c.1586+6T>AIntronicPHEXSplicingIntronicLikely Pathogenic<521885902, 34806794Intron 14
PHEX_0478c.1586+6T>Cp.?PHEXSplicingIntronicPathogenic<518625346, 31102713, 20157195, 34806794Intron 14
PHEX_1059c.1587-46C>Tp.?PHEXSplicingIntronicUncertain Significance<524857004Intron 14
PHEX_0488c.1587-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic5-10Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Ab....34806794Intron 14
PHEX_0489c.1587-1G>Cp.?PHEXSplicingSplice acceptorPathogenic5-1028506344, 31903094, 22695891, 34806794Intron 14
PHEX_0872c.1589G>Ap.Trp530*PHEXSNVNonsensePathogenic<534141703, 34806794Exon 15
PHEX_0487Exon 15PHEXCNVDeletionLikely Pathogenic<534806794Exon 15
PHEX_1137c.?Partial deletion (Exon 15)PHEXLikely Pathogenic<5Exon 15
PHEX_0486c.1587-?_1645+?delDeletion (Exon 15)PHEXCNVDeletionPathogenic5-10Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725, 34806794Intron 14
PHEX_0485c.1587-?_2070+?delDeletion (Exons 15-20)PHEXCNVDeletionPathogenic<534141703, 34806794Intron 14
PHEX_1125c.1587-?_*3357+?delDeletion (Exons 15-22)PHEXDeletionUNKNOWN<534141703Exon 15 - 22
PHEX_1060c.1590delp.Trp530Cysfs*40PHEXSmall deletionFrameshiftPathogenic<5abnormal bone development, bowed or bent leg32253725Exon 15
PHEX_0491c.1590G>Ap.Trp530*PHEXSNVNonsensePathogenic<59768674, 16636593, 34806794Exon 15
PHEX_0490c.1590G>Cp.Trp530CysPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities10439971, 16636593, 34806794Exon 15
PHEX_0492c.1593dupp.Thr532Tyrfs*50PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 15
PHEX_0494c.1600C>Ap.Pro534ThrPHEXSNVMissensePathogenic<5Lower limb deformities, Reduced Serum Phosphate, Lower Limb Deformities22577109, 28383812, 34806794Exon 15
PHEX_0493c.1600C>Tp.Pro534SerPHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities28383812, 29460029, 34806794Exon 15
PHEX_0495c.1601C>Tp.Pro534LeuPHEXSNVMissensePathogenic30+Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(10439971, 9199930, 23813354, 23079138, 22101457, 29460029, 9768674, 15057978, 16055933, 9097956, 25894638, 22261628, 18162710, 30599486, 22713460, 33639975, 32329911, 24660072, 11502829, 30682568, 22695891, 24926462, 25042154, 20688626, 32104046, 29505567, 19219621, 29707405, 21050253, 16636593, 17467977, 10874297, 10894185, 21604088, 32253725, 27840894, 33783172, 34141703, 34806794Exon 15
PHEX_1061c.1604C>Tp.Thr535MetPHEXSNVMissenseLikely Pathogenic<5stunted growth, abnormal bone development, flexion contracture33888711Exon 15
PHEX_0496c.1605_1607delp.Thr536delPHEXSmall deletionDeletionLikely Pathogenic<5Short Stature, Lower Limb Deformities19513579, 34806794Exon 15
PHEX_1062c.1621T>Gp.Tyr541AspPHEXSNVMissenseLikely Pathogenic<5Exon 15
PHEX_0498c.1639C>Tp.Gln547*PHEXSNVNonsensePathogenic<5Short Stature, Other Musculoskeletal Abnormalities24926462, 23079138, 21902834, 34806794Exon 15
PHEX_0873c.1640A>Cp.Gln547ProPHEXSNVMissenseLikely Pathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Exon 15
PHEX_0874c.1643T>Cp.Ile548ThrPHEXSNVMissenseLikely Pathogenic5-1025237965, 34806794Exon 15
PHEX_0505c.1645C>Tp.Arg549*PHEXSNVNonsensePathogenic30+Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, ....29460029, 24836714, 23079138, 15057978, 9097956, 29901142, 16636593, 24926462, 25894638, 19219621, 21902834, 26051471, 31102713, 29505567, 34141703, 34806794Exon 15 - 16
PHEX_0503c.1645+1G>Ap.?PHEXSplicingSplice donorPathogenic30+Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(10439971, 23079138, 24857004, 21902834, 22101457, 25086671, 15057978, 32619592, 18625346, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 33295632, 16636593, 31102713, 24102521, 33666701, 34141703, 34806794Intron 15
PHEX_0506c.1645+1G>TSplice donorPHEXSplicingSplice donorPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....34806794Intron 15
PHEX_0497c.1645+2T>CSplice donorPHEXSplicingSplice donorPathogenic<59199930, 34806794Intron 15
PHEX_0500c.1645+2T>GSplice donorPHEXSplicingSplice donorPathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Intron 15
PHEX_1063c.1645+4A>CIntronicPHEXSplicingSplice donorUncertain Significance<5Intron 15
PHEX_0504c.1645+4A>Gp.?PHEXSplicingIntronicLikely Pathogenic<530682568, 34806794Intron 15
PHEX_0501c.1645+5G>Ap.?PHEXSplicingIntronic, FrameshiftPathogenic5-10Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities11502829, 16636593, 31102713, 33639975, 19219621, 34141703, 34806794Intron 15
PHEX_0502c.1645+6T>Cp.?PHEXSplicingIntronicPathogenic<518625346, 31102713, 34806794Intron 15
PHEX_1064c.1646-1493C>Ap.?PHEXSplicingIntronicBenign<520672378Intron 15
PHEX_0875c.1646-46T>Cp.?PHEXSplicingIntronicBenign<5bowed or bent legs, short stature, deformation of chest, widening of the distal parts of the forearms33295632, 34806794Intron 15
PHEX_0515c.1646-2A>Gp.?PHEXSplicingSplice acceptorPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities16261449, 34806794Intron 15
PHEX_0510c.1646-2A>Tp.?PHEXSplicingSplice acceptorPathogenic<5Lower Limb Deformities28506344, 24836714, 34141703, 34806794Intron 15
PHEX_0519c.1646-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic<534806794Intron 15
PHEX_0517c.1646_?delp.Arg549_?delPHEXSmall deletionDeletionUncertain Significance<5radiological signs of rickets, abnormal bone development30607568, 33639975, 34806794Exon 16
PHEX_0521c.1646-?_1768+?delDeletion (Exons 16-17)PHEXSmall deletionDeletionPathogenic<59768674, 16636593, 34806794Exon 16 - 17
PHEX_0518c.1646G>Cp.Arg549ProPHEXSNVMissensePathogenic5-10Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffne....22577109, 25839938, 18625346, 34806794Exon 15 - 16
PHEX_1126c.1646-?_1899+?delDeletion (Exons 16-18)PHEXDeletionUNKNOWN<532253725Exon 16 - 18
PHEX_0508c.1646-?_1700+?delDeletion (Exon 16)PHEXCNVDeletionPathogenic5-1029460029, 31474501, 34141703, 34806794Exon 16
PHEX_0507c.1646-?_2070+?delDeletion (Exons 16-20)PHEXCNVDeletionPathogenic<534806794Intron 15
PHEX_0516c.1646-?_2070+?dupGain (Exons 16-20)PHEXCNVDuplicationUncertain Significance<522695891, 34806794Exon 16 - 20
PHEX_0512c.1646-?_*3357+?delDeletion (Exons 16-22)PHEXCNVDeletionPathogenic5-10nephrocalcinosis, hyperparathyroidism, abnormal bone development24926462, 29460029, 31474501, 22695891, 23079138, 21902834, 34141703, 34806794Exon 16 - 22
PHEX_1065c.1650_1652delTCCinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTTp.Phe550Leufs*45PHEXDeletion/InsertionFrameshiftLikely Pathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg32253725Exon 16
PHEX_0523c.1654G>Ap.Ala552ThrPHEXSNVMissenseUncertain Significance<521902834, 34806794Exon 16
PHEX_0524c.1657G>Tp.Gly553*PHEXSNVNonsensePathogenic<526377240, 34806794Exon 16
PHEX_0525c.1658G>Ap.Gly553GluPHEXSNVMissensePathogenic<5bowed or bent legs, dental caries21050253, 32329911, 34806794Exon 16
PHEX_0526c.1660G>Tp.Glu554*PHEXSNVNonsensePathogenic<534806794Exon 16
PHEX_0527c.1664T>Cp.Leu555ProPHEXSNVMissensePathogenic11-20Lower Limb Deformities9768646, 16636593, 19219621, 34806794Exon 16
PHEX_0528c.1666C>Tp.Gln556*PHEXSNVNonsensePathogenic5-10abnormal bone development, bowed or bent leg, short stature31658436, 32253725, 34806794Exon 16
PHEX_0529c.1670delp.Lys557Serfs*13PHEXSmall deletionFrameshiftPathogenic<529460029, 34806794Exon 16
PHEX_0530c.1672C>Gp.Pro558AlaPHEXSNVMissenseLikely Pathogenic<518046499, 23813354, 21293852, 24857004, 34806794Exon 16
PHEX_0532c.1681_1682insAlup.Phe560fsPHEXSmall insertionFrameshiftPathogenic<534806794Exon 16
PHEX_1066c.1682G>Ap.Trp561*PHEXSNVNonsensePathogenic<5Exon 16
PHEX_0533c.1683G>Ap.Trp561*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 16
PHEX_0534c.1684G>Tp.Gly562*PHEXSNVNonsensePathogenic<515057978, 34806794Exon 16
PHEX_0536c.1685delp.Gly562Glufs*8PHEXSmall deletionFrameshiftPathogenic<518625346, 34806794Exon 16
PHEX_0535c.1685dupp.Thr563Asnfs*19PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 16
PHEX_0537c.1692delp.Glu564Aspfs*6PHEXSmall deletionFrameshiftPathogenic5-10Short Stature, Lower Limb Deformities31537998, 34806794Exon 16
PHEX_0522c.1694delp.Tyr565Phefs*5PHEXSmall deletionFrameshiftPathogenic<5Lower Limb Deformities24836714, 34141703, 34806794Exon 16
PHEX_0538c.1695T>Ap.Tyr565*PHEXSNVNonsensePathogenic<534806794Exon 16
PHEX_0539c.1699C>Tp.Arg567*PHEXSNVNonsensePathogenic30+Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities,....16303832, 32329911, 29460029, 21994957, 21293852, 29901142, 21050253, 30599486, 25894638, 22261628, 18162710, 18625346, 22101457, 24229582, 33639975, 19219621, 24857004, 34141703, 34806794Exons 16-17
PHEX_0541c.1700G>APHEXSplicingUnknownPathogenic<59097956, 34806794Exon 16
PHEX_0544c.1700G>Cp.Arg567ProPHEXSNVMissensePathogenic<5Reduced Serum Phosphate21994957, 16636593, 34806794Exons 16-17
PHEX_0545c.1700+1G>Ap.?PHEXSplicingSplice donorPathogenic5-10Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities19219621, 34806794Intron 16
PHEX_0543c.1700+1G>CSplice donorPHEXSplicingSplice donorPathogenic<5Gait Abnormalities, Lower limb deformities, Lower Limb Deformities34806794Intron 16
PHEX_0542c.1700+1G>TSplice donorPHEXSplicingSplice donorPathogenic5-10Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34806794Intron 16
PHEX_0877c.1700+2T>Cp.?PHEXSplicingSplice donorPathogenic<516636593, 9199930, 33666701, 34806794Intron 16
PHEX_0876c.1700+5G>AIntronicPHEXSplicingSplice donorLikely Pathogenic<5Reduced_TmP/GFR_(34806794Intron 16
PHEX_0546c.1701-16T>Ap.?PHEXSplicingIntronicPathogenic5-1031102713, 31821448, 9097956, 34806794Intron 16
PHEX_0550c.1701-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic<534806794Intron 16
PHEX_0553c.1701-2A>TSplice acceptorPHEXSplicingSplice acceptorPathogenic<534806794Intron 16
PHEX_0548c.1701-1delSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Intron 16
PHEX_0552c.1701-?_1899+?delDeletion (Exons 17-18)PHEXCNVDeletionPathogenic<5Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities32329911, 34806794Exons 17-18
PHEX_0547c.1701-?_2070+?delDeletion (Exons 17-20)PHEXCNVDeletionPathogenic<5Lower Limb Deformities, hyperparathyroidism, abnormal bone development23079138, 24926463, 24926462, 21902834, 34806794Exons 17-20
PHEX_0549c.1701-?_*3357+?delDeletion (Exons 17-22)PHEXCNVDeletionPathogenic<5Lower Limb Deformities16636593, 33295633, 32329911, 9199930, 34806794Exons 17-22
PHEX_0554c.1702T>Cp.Ser568ProPHEXSplicingIntronicUncertain Significance<5Gait Abnormalities, Lower Limb Deformities34806794Exon 17
PHEX_0555c.1705_1706delp.Leu569Glufs*12PHEXSmall deletionFrameshiftPathogenic<521050253, 34806794Exon 17
PHEX_0878c.1706T>Gp.Leu569ArgPHEXSNVMissenseLikely Pathogenic<533639975, 34806794Exon 17
PHEX_0879c.1707_1710dupp.Tyr571Glufs*12PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 17
PHEX_0556c.1708delp.Ser570Valfs*5PHEXSmall deletionDeletionPathogenic<534806794Exon 17
PHEX_0557c.1713T>Gp.Tyr571*PHEXSNVNonsensePathogenic<534806794Exon 17
PHEX_0558c.1714G>Ap.Gly572SerPHEXSNVMissensePathogenic5-10bowed or bent legs, Lower Limb Deformities, Fractures/Pseudo-Fractures30238432, 32329911, 34806794Exon 17
PHEX_0559c.1714G>Cp.Gly572ArgPHEXSNVMissenseUncertain Significance<534806794Exon 17
PHEX_0561c.1715G>Ap.Gly572AspPHEXSNVMissensePathogenic11-20Reduced Serum Phosphate, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities11502829, 23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 34806794Exon 17
PHEX_0560c.1715G>Tp.Gly572ValPHEXSNVMissenseLikely Pathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg32253725, 34806794Exon 17
PHEX_0562c.1718C>Ap.Ala573AspPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities10439971, 16636593, 24926462, 23079138, 34806794Exon 17
PHEX_0563c.1721T>Ap.Ile574LysPHEXSNVMissenseLikely Pathogenic<5Short Stature, Bone Density Abnormalities, Lower Limb Deformities29393334, 34806794Exon 17
PHEX_0880c.1723_1727dupp.Ile577Glufs*2PHEXSmall duplicationFrameshiftPathogenic<532329911, 34806794Exon 17
PHEX_0564c.1723G>Ap.Gly575ArgPHEXSNVMissenseLikely Pathogenic<5Reduced Serum Phosphate34806794Exon 17
PHEX_0565c.1724G>Ap.Gly575GluPHEXSNVMissensePathogenic<533049132, 34806794Exon 17
PHEX_0566c.1727_1738delp.Val576_His580delinsAspPHEXSmall deletionDeletion/InsertionLikely Pathogenic5-1021050253, 34806794Exon 17
PHEX_0567c.1728_1731dupp.Val578Asnfs*5PHEXSmall duplicationFrameshiftPathogenic<522695891, 34806794Exon 17
PHEX_0568c.1735G>Ap.Gly579ArgPHEXSNVMissensePathogenic30+Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(9199930, 23079138, 20838491, 21902834, 29460029, 9768674, 32133333, 15057978, 22577109, 18625346, 33639975, 32329911, 28163769, 19219621, 27884786, 21293852, 20157195, 16636593, 24684036, 24229582, 24857004, 32253725, 33796255, 34141703, 34806794, 9097956, 10439971, 27221261Exon 17
PHEX_0570c.1735G>Cp.Gly579ArgPHEXSNVMissensePathogenic<59199930, 11468271, 24926462, 24684036, 12727977, 20838491, 34806794Exon 17
PHEX_0881c.1735G>Tp.Gly579*PHEXSNVNonsensePathogenic<5Fractures/pseudo-fractures, Lower limb deformities34806794Exon 17
PHEX_0569c.?p.Gly579ArgPHEXSNVMissensePathogenic11-20Other Musculoskeletal Abnormalities10439971, 15470265, 23813354, 30682568, 10874297, 9097956, 25894638, 18046499, 12111239, 21604088, 27221261, 34806794Exon 17
PHEX_0571c.1736G>Tp.Gly579ValPHEXSNVMissenseLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities10439971, 11502829, 23079138, 16636593, 24926462, 12727977, 34806794Exon 17
PHEX_0572c.1738C>Gp.His580AspPHEXSNVMissenseLikely Pathogenic<5Lower Limb Deformities34806794Exon 17
PHEX_0573c.1739A>Cp.His580ProPHEXSNVMissenseLikely Pathogenic<522101457, 29460029, 34806794Exon 17
PHEX_0574c.1742A>Tp.Glu581ValPHEXSNVMissenseLikely Pathogenic<511468271, 11311133, 12727977, 34806794Exon 17
PHEX_0882c.1750C>Tp.His584TyrPHEXSNVMissensePathogenic<5Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate34806794Exon 17
PHEX_0575c.1751A>Cp.His584ProPHEXSNVMissenseUncertain Significance<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities24836714, 34141703, 34806794Exon 17
PHEX_0883c.1753G>Ap.Gly585ArgPHEXSNVMissenseLikely Pathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Exon 17
PHEX_0576c.1757T>Cp.Phe586SerPHEXSNVMissensePathogenic<5Lower Limb Deformities18625346, 34806794Exon 17
PHEX_0577c.1765_1768delp.Asn589Valfs*29PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities,....19219621, 34806794Exon 17
PHEX_1067c.1768G > Ap. G590SPHEXSNVMissenseUNKNOWN<5short stature, gene varum, osteoarthritis35251124Exon 17
PHEX_0540c.1768+?insPHEXSplicingUnknownPathogenic<59768674, 34806794Intron 17
PHEX_0579c.1768+1delSplice donorPHEXSplicingSplice donorLikely Pathogenic<534806794Intron 17
PHEX_0585c.1768+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Lower Limb Deformities10439971, 16636593, 28383812, 34806794Intron 17
PHEX_0578c.1768+1G>Cp.?PHEXSplicingSplice donorPathogenic<518625346, 16636593, 34806794Intron 17
PHEX_1068c.1768+1G>Tp.?PHEXSplicingSplice donorPathogenic<534141703Intron 17
PHEX_0531c.1768+? Poly TPHEXSNVUnknownPathogenic<59768674, 34806794Intron 17
PHEX_0584c.1768+2delSplice donorPHEXSplicingSplice donorPathogenic<534806794Intron 17
PHEX_0581c.1768+2dupp.?PHEXSplicingSplice donorPathogenic<519219621, 34806794Intron 17
PHEX_1069c.1768+2T>Cp.?PHEXSplicingSplice donorPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg, short stature32253725Intron 17
PHEX_0586c.1768+2T>Gp.?PHEXSplicingSplice donorPathogenic<5Bone and/or Joint Pain and/or Joint Stiffness, Short Stature, Lower Limb Deformities24836714, 31102713, 32257293, 33666701, 34141703, 34806794Intron 17
PHEX_0580c.1768+3_1768+4insTp.?PHEXSplicingIntronicUncertain Significance<515057978, 34806794Intron 17
PHEX_0583c.1768+4_1768+7delIntronicPHEXSplicingIntronicUncertain Significance<534806794Intron 17
PHEX_0588c.1768+5G>Ap.?PHEXSplicingIntronicPathogenic5-10Gait Abnormalities, Lower limb deformities, Lower Limb Deformities15057978, 24926462, 18162710, 31102713, 23079138, 34806794Intron 17
PHEX_0587c.1768+177_1768+180dupp.?PHEXSplicingIntronicUncertain Significance<5Short Stature, Other Musculoskeletal Abnormalities24926462, 21902834, 34806794Intron 17
PHEX_0885c.1769-10C>Tp.?PHEXSplicingIntronicBenign<533295632, 34141703, 34806794, 19219621, 24489884Intron 17
PHEX_1070c.1769-6_1784dupIntronicPHEXSmall insertionNonsenseUncertain Significance<5Exon 18
PHEX_0884c.1769-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic<5Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries34806794Intron 17
PHEX_0886c.1769-2delp.?PHEXSplicingSplice acceptorPathogenic<532257293, 34806794Intron 17
PHEX_0591c.1769-1G>Ap.Gly590Glufs*28PHEXSplicingSplice acceptor, FrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Bone Density Abnormalities30599486, 26559751, 34806794Intron 17, exons 17-18
PHEX_0589c.1769-1G>Cp.?PHEXSplicingSplice acceptorPathogenic<5Gait abnormalities, Lower limb deformities, Short Stature21050253, 31102713, 34806794Intron 17
PHEX_1138c.?Deletion (Exons 18-20)PHEXDeletionPathogenic<5Gait abnormalities, Lower limb deformities, Short StatureExons 18-20
PHEX_1127c.1769-?_1899+?delDeletion (Exon 18)PHEXDeletionPathogenic<5Intron 17
PHEX_0590c.1769-?_2070+?dupGain (Exons 18-20)PHEXCNVDuplicationLikely Pathogenic<534806794Intron 17
PHEX_0592c.1775_1778dupp.Tyr593*PHEXSmall duplicationNonsensePathogenic<529460029, 34806794Exon 18
PHEX_0594c.1779_1782dupp.Lys595*PHEXSmall duplicationNonsensePathogenic<5bowed or bent legs32329911, 19219621, 34806794Exon 18
PHEX_0593c.1779T>Ap.Tyr593*PHEXSNVNonsensePathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature19219621, 32253725, 34806794Exon 18
PHEX_0595c.1779T>Gp.Tyr593*PHEXSNVNonsensePathogenic<534806794Exon 18
PHEX_0597c.1783_1784insTGATp.Lys595Metfs*13PHEXSmall insertionFrameshiftPathogenic<516636593, 23813354, 9199930, 34806794Exon 18
PHEX_1112c.1783A>Tp.Lys595*PHEXSNVNonsensePathogenic<5short stature, Chiari malformation, Dolichocephaly32253725Exon 18
PHEX_0598c.1787dupp.Asn596Lysfs*11PHEXSmall insertionFrameshiftPathogenic<516636593, 34806794Exon 18
PHEX_0599c.1789G>Tp.Gly597*PHEXSNVNonsensePathogenic<534806794Exon 18
PHEX_0600c.1800dupp.Pro601Serfs*6PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 18
PHEX_0602c.1802delp.Pro601Leufs*18PHEXSmall deletionFrameshiftPathogenic<516636593, 34806794Exon 18
PHEX_0603c.1805G>Ap.Trp602*PHEXSNVNonsensePathogenic<5Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Kidney Diseas....25983897, 34806794Exon 18
PHEX_0606c.1806G>Ap.Trp602*PHEXSNVNonsensePathogenic5-10Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities19513579, 28383812, 19219621, 34141703, 34806794Exon 18
PHEX_0604c.1806delp.Trp602Cysfs*17PHEXSmall deletionFrameshiftPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 18
PHEX_0605c.1806dupp.Trp603Valfs*4PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 18
PHEX_0608c.1809_1816delp.Trp603*PHEXSmall deletionNonsensePathogenic<518625346, 16636593, 34806794Exon 18
PHEX_0607c.1809G>Ap.Trp603*PHEXSNVNonsensePathogenic5-10Gait abnormalities, Lower limb deformities, Short Stature23813354, 21293852, 18046499, 19513579, 24857004, 34806794Exon 18
PHEX_0887c.1812delp.Thr605Leufs*14PHEXSmall deletionFrameshiftPathogenic5-10Reduced_TmP/GFR_(34806794Exon 18
PHEX_0609c.1818_1821dupp.Glu608Ilefs*6PHEXSmall duplicationFrameshiftPathogenic<5Gait Abnormalities, Lower Limb Deformities34806794Exon 18
PHEX_0610c.1825_1828dupp.Lys610Argfs*4PHEXSmall insertionFrameshiftPathogenic<532329911, 34806794Exon 18
PHEX_0611c.1825G>Tp.Glu609*PHEXSNVNonsensePathogenic<5Short Stature, Other Musculoskeletal Abnormalities21902834, 24926462, 23079138, 21293852, 34806794Exon 18
PHEX_0612c.1826_1830delp.Glu609Valfs*2PHEXSmall deletionFrameshiftPathogenic5-10Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities16636593, 24926462, 23079138, 21293852, 24857004, 34806794Exon 18
PHEX_0613c.1828_1829dupp.Phe611Serfs*9PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 18
PHEX_0614c.1828_1832dupp.Phe611Leufs*10PHEXSmall duplicationFrameshiftPathogenic<5Reduced_TmP/GFR_(34806794Exon 18
PHEX_0615c.1830delp.Lys610Asnfs*9PHEXSmall deletionFrameshiftPathogenic<522101457, 29460029, 34806794Exon 18
PHEX_0616c.1832_1833delp.Phe611*PHEXSmall deletionNonsensePathogenic<59199930, 16636593, 34806794Exon 18
PHEX_0617c.1843delp.Thr615Glnfs*4PHEXSmall deletionFrameshiftPathogenic<5Lower limb deformities23813354, 21293852, 24857004, 34806794Exon 18
PHEX_0618c.1843dupp.Thr615Asnfs*6PHEXSmall insertionFrameshiftPathogenic5-10short stature, teeth falling out, deformities of the long bones, difficulty walking19219621, 27840894, 34141703, 34806794Exon 18
PHEX_0889c.1844_1845delp.Thr615Lysfs*5PHEXSmall deletionFrameshiftPathogenic<532329911, 34806794Exon 18
PHEX_1071c.1844_1845dupp.Lys616Glnfs*4PHEXSmall insertionFrameshiftPathogenic<5abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development30406928Exon 18
PHEX_0620c.1844_1847dupp.Lys616Asnfs*6PHEXSmall insertionFrameshiftPathogenic<5abnormal bone development, bowed or bent leg21050253, 32253725, 34806794Exon 18
PHEX_0622c.1847_1848delp.Lys616Metfs*4PHEXSmall deletionFrameshiftPathogenic<5Lower Limb Deformities34806794Exon 18
PHEX_0623c.1848delp.Lys616Asnfs*3PHEXSmall deletionFrameshiftPathogenic11-2018625346, 20157195, 34806794Exon 18
PHEX_0624c.1848dupp.Cys617Metfs*4PHEXSmall insertionFrameshiftPathogenic<516636593, 34806794Exon 18
PHEX_0625c.1850G>Tp.Cys617PhePHEXSNVMissenseUncertain Significance<5Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities34806794Exon 18
PHEX_0626c.1854_1857dupp.Asn620Aspfs*2PHEXSmall duplicationFrameshiftPathogenic<519219621, 34806794Exon 18
PHEX_0630c.1859_1862dupp.Tyr622Profs*3PHEXSmall insertionFrameshiftPathogenic<526051471, 34806794Exon 18
PHEX_0628c.1861C>Tp.Gln621*PHEXSNVNonsensePathogenic<522101457, 22913777, 24857004, 34806794Exon 18
PHEX_0629c.1862A>Gp.Gln621ArgPHEXSNVMissenseLikely Pathogenic<59768674, 16636593, 21604088, 34806794Exon 18
PHEX_1113c.1863_1870delp.Tyr622Leufs*22PHEXSmall deletionFrameshiftPathogenic<534141703Exon 18
PHEX_1072c.1864T>Cp.Tyr622HisPHEXSNVMissenseUncertain Significance<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short StatureExon 18
PHEX_0890c.1873_1876dupp.Tyr626Leufs*22PHEXSmall duplicationFrameshiftPathogenic<5Reduced_TmP/GFR_(34806794Exon 18
PHEX_0631c.1874_1875dupp.Tyr626Ilefs*8PHEXSmall duplicationFrameshiftPathogenic<529460029, 34806794Exon 18
PHEX_0891c.1875_1882dupp.Lys628Ilefs*8PHEXSmall duplicationFrameshiftPathogenic<5Lower limb deformities, Reduced Serum Phosphate34806794Exon 18
PHEX_0632c.1875T>Gp.Tyr625*PHEXSNVNonsensePathogenic<534806794Exon 18
PHEX_0633c.1880G>Ap.Trp627*PHEXSNVNonsensePathogenic<5Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries34806794Exon 18
PHEX_0635c.?p.Trp627*PHEXSNVNonsensePathogenic<5radiological signs of rickets, bowed or bent legs, waddling gait, fraying of the distal metaphyseal line of both femurs and tibiae, nephrocalcinosis19242361, 27221261, 34806794Exon 18
PHEX_0634c.1881G>Ap.Trp627*PHEXSNVNonsensePathogenic<516636593, 15057978, 34806794Exon 18
PHEX_1073c.1885_1888dupp.Ala630Glufs*18PHEXSmall insertionFrameshiftPathogenic<5Bone and/or joint pain and/or joint stiffness, Lower limb deformitiesExon 18
PHEX_1074c.1895_1899+18delp.?PHEXSmall deletionSplice donorPathogenic<5abnormal bone development, radiological signs of rickets19219621Exon 18, Intron 18
PHEX_0638c.1899+1G>Ap.?PHEXSplicingSplice donorPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities19219621, 34806794Intron 18
PHEX_0639c.1899+1G>Tp.?PHEXSplicingSplice donorPathogenic<521050253, 31102713, 34806794Intron 18
PHEX_0637c.1899+2T>Ap.?PHEXSplicingSplice donorPathogenic<531102713, 21293852, 24857004, 34806794Intron 18
PHEX_0636c.1899+3G>CIntronicPHEXSplicingIntronicUncertain Significance<5Fractures/Pseudo-Fractures, Lower Limb Deformities34806794Intron 18
PHEX_0640c.1899+5G>Ap.?PHEXSplicingIntronicPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities31102713, 19219621, 34806794Intron 18
PHEX_1075c.1900-29_1900-28insATTp.?PHEXSmall insertionIntronicUncertain Significance<519219621Intron 18
PHEX_0642c.1900-1G>Ap.?PHEXSplicingSplice acceptorPathogenic<5Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate16261449, 34806794Intron 18
PHEX_0641c.1900-?_*3357+?delDeletion (Exons 19-22)PHEXCNVDeletionUncertain Significance<516636593, 9199930, 34806794Exons 19-22
PHEX_0892c.1900-?_1965+?delDeletion (Exon 19)PHEXCNVDeletionPathogenic<5Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate34806794Intron 18
PHEX_0643c.1900-?_2070+?delDeletion (Exons 19-20)PHEXCNVDeletionPathogenic<534141703, 34806794Intron 18
PHEX_0644c.1919T>Cp.Leu640ProPHEXSNVMissensePathogenic5-10Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 33666701, 34806794Exon 19
PHEX_0893c.1921G>Tp.Gly641*PHEXSNVNonsensePathogenic<5Gait abnormalities, Lower limb deformities34806794Exon 19
PHEX_0646c.1927_1930dupp.Ile644Lysfs*4PHEXSmall insertionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 19
PHEX_0647c.1929delp.Asn643Lysfs*19PHEXSmall deletionFrameshiftPathogenic<516636593, 34806794Exon 19
PHEX_0648c.1933G>Ap.Ala645ThrPHEXSNVMissenseLikely Pathogenic<534806794Exon 19
PHEX_0649c.1935_1938dupp.Asn647*PHEXSmall duplicationNonsensePathogenic5-10Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures34806794Exon 19
PHEX_0895c.1936_?delp.Asp646_?delPHEXSmall deletionDeletionUNKNOWN<532133333, 34806794Exon 19
PHEX_0652c.1936_1938delp.Asp646delPHEXSmall deletionDeletionLikely Pathogenic<5Short Stature, Other Musculoskeletal Abnormalities24926462, 23079138, 21902834, 34806794Exon 19
PHEX_0894c.1936delp.Asp646Ilefs*16PHEXSmall deletionFrameshiftPathogenic<533639975, 34806794Exon 19
PHEX_0651c.1936_1939dupp.Asn647Argfs*2PHEXSmall duplicationFrameshiftPathogenic<516636593, 11502829, 34806794Exon 19
PHEX_0650c.1936G>Ap.Asp646AsnPHEXSNVMissenseLikely Pathogenic<5Skull Deformities, Short Stature21050253, 34806794Exon 19
PHEX_0653c.1936G>Cp.Asp646HisPHEXSNVMissenseLikely Pathogenic<5Gait abnormalities34806794Exon 19
PHEX_0654c.1936G>Tp.Asp646TyrPHEXSNVMissenseUncertain Significance<534806794Exon 19
PHEX_1076c.1937A>Gp.Asp646GlyPHEXSNVMissensePathogenic<5Exon 19
PHEX_0658c.1942G>Ap.Gly648ArgPHEXSNVMissenseUncertain Significance<534806794Exon 19
PHEX_0657c.1942G>Cp.Gly648ArgPHEXSNVMissenseUncertain Significance<534806794Exon 19
PHEX_0659c.1942G>Tp.Gly648*PHEXSNVNonsensePathogenic<5Skull Deformities, Other Musculoskeletal Abnormalities, Lower Limb Deformities26051471, 34806794Exon 19
PHEX_0660c.1946G>Ap.Gly649AspPHEXSNVMissenseLikely Pathogenic<522577109, 23312231, 34806794Exon 19
PHEX_0896c.1949T>Cp.Leu650ProPHEXSNVMissenseUncertain Significance5-10abnormal bone development, genu varum, bowed or bent leg, short stature32252220, 34011663, 34806794Exon 19
PHEX_1077c.1951delp.Arg651Glyfs*11PHEXSmall deletionFrameshiftPathogenic<5Lower limb deformities, Short Stature, Gait abnormalities, Lower limb deformities, Short StatureExon 19
PHEX_0663c.1956_1957insGCTTGGGAAp.Ala653_Phe654insTrpGluAlaPHEXSmall insertionInsertionLikely Pathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 19
PHEX_0662c.1952G>Cp.Arg651ProPHEXSNVMissensePathogenic5-10Other Musculoskeletal Abnormalities, genu varum, bowed or bent leg, coxa vara, arthritis, hip dysplasia10439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 34806794Exon 19
PHEX_0661c.1954_1965delp.Glu652_Arg655delPHEXSmall deletionDeletionLikely Pathogenic<516636593, 18162710, 16055933, 34806794Exon 19
PHEX_0664c.1958C>Ap.Ala653AspPHEXSNVMissenseUncertain Significance<522101457, 29460029, 33049132, 34806794Exon 19
PHEX_0665c.1960T>Ap.Phe654IlePHEXSNVMissenseLikely Pathogenic<534806794Exon 19
PHEX_0666c.1961_1963delTTAinsp.Phe654Serfs*8PHEXSmall insertionDeletion/InsertionPathogenic<534806794Exon 19
PHEX_0897c.1961T>Cp.Phe654SerPHEXSNVMissenseLikely Pathogenic<533639975, 34806794Exon 19
PHEX_0898c.1962dupp.Arg655*PHEXSmall duplicationNonsensePathogenic<532329911, 34806794Exon 19
PHEX_0668c.1965+1G>Ap.?PHEXSplicingSplice donorPathogenic5-10Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities10439971, 29460029, 9097956, 16636593, 24926462, 18162710, 21902834, 30599486, 19219621, 23079138, 34806794Intron 19
PHEX_0667c.1965+1G>Tp.?PHEXSplicingSplice donorPathogenic<5Short Stature, Lower Limb Deformities25115781, 34806794Intron 19
PHEX_0670c.1966-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic<534141703, 34806794Intron 19
PHEX_0669c.1966_1969dupp.Tyr657Cysfs*8PHEXSmall duplicationFrameshiftPathogenic<534806794Exon 20
PHEX_0672c.1967_?delp.Asp657_?delPHEXSmall deletionDeletionUncertain Significance<5radiological signs of rickets, short stature, abnormal bone development30607568, 33639975, 34806794Exon 20
PHEX_0671c.1967_2025delp.Ala656Aspfs*41PHEXSmall deletionFrameshiftPathogenic<525086671, 21050253, 34806794Exon 20
PHEX_0899c.1966-?_2070+?delDeletion (Exon 20)PHEXCNVDeletionLikely Pathogenic<5Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries34806794Intron 19
PHEX_0673c.1970A>Gp.Tyr657CysPHEXSNVMissensePathogenic<5Other Musculoskeletal Abnormalities, abnormal bone development, short stature, Lower Limb Deformities29707405, 19219621, 34806794Exon 20
PHEX_0900c.1971C>Gp.Tyr657*PHEXSNVNonsensePathogenic<5Fractures/pseudo-fractures, Lower limb deformities34806794Exon 20
PHEX_0674c.1973_1984dupp.Arg658_Ile661dupPHEXSmall duplicationInsertionUncertain Significance<5Lower Limb Deformities34806794Exon 20
PHEX_0675c.1978_1988delp.Trp660Glnfs*6PHEXSmall deletionFrameshiftPathogenic<529460029, 34806794Exon 20
PHEX_0901c.1979_1995dupp.Gln666Glyfs*2PHEXSmall duplicationFrameshiftPathogenic<532329911, 34806794Exon 20
PHEX_0676c.1979G>Ap.Trp660*PHEXSNVNonsensePathogenic5-1016636593, 9199930, 29707405, 34141703, 34806794Exon 20
PHEX_0677c.1980G>Ap.Trp660*PHEXSNVNonsensePathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities24836714, 34806794Exon 20
PHEX_0902c.1982_1986dupp.Asp663*PHEXSmall duplicationNonsensePathogenic<5Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate34806794Exon 20
PHEX_1078c.1985delp.Asn662Metfs*25PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short StatureExon 20
PHEX_0904c.1986_1987insTGACp.Asp663*PHEXSplicingNonsensePathogenic<524926462, 23079138, 16636593, 34806794, 10439971Exon 20
PHEX_0903c.1986_1989dupp.Arg664*PHEXSmall duplicationNonsensePathogenic<532329911, 34806794Exon 20
PHEX_0678c.1989_1990delp.Asp663Glufs*6PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities10439971, 19219621, 34806794Exon 20
PHEX_0680c.1991_1992insTGACp.Arg664Serfs*7PHEXSmall insertionFrameshiftPathogenic<524926462, 23079138, 15057978, 9199930, 16636593, 34806794Exon 20
PHEX_0681c.1993delp.Arg665Glyfs*22PHEXSmall deletionFrameshiftPathogenic<5Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities16636593, 11502829, 34806794Exon 20
PHEX_0682c.1996_2008delp.Gln666Serfs*17PHEXSmall deletionFrameshiftPathogenic<516636593, 18162710, 16055933, 34806794Exon 20
PHEX_0683c.1999G>Tp.Gly667*PHEXSNVNonsensePathogenic<534806794Exon 20
PHEX_0684c.2000delp.Gly667Aspfs*20PHEXSmall deletionFrameshiftPathogenic<5Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries34806794Exon 20
PHEX_1079c.2002_2006dupp.Glu669Aspfs*20PHEXSmall insertionFrameshiftPathogenic<5abnormal bone development, pectus carinatum, bowed or bent leg34141703, 32253725Exon 20
PHEX_0685c.2004_2018delp.Glu669_Leu673delPHEXSmall deletionDeletionUncertain Significance<534806794Exon 20
PHEX_0905c.2005_2016delp.Glu669_Leu672delPHEXSmall deletionDeletionUncertain Significance<534806794Exon 20
PHEX_0687c.2008G>Ap.Glu670LysPHEXSNVMissenseUncertain Significance<534806794Exon 20
PHEX_0686c.2008delp.Glu670Serfs*17PHEXSmall deletionFrameshiftPathogenic<522695891, 34806794Exon 20
PHEX_0688c.2009A>Tp.Glu670ValPHEXSNVMissenseUncertain Significance<534806794Exon 20
PHEX_1080c.2011_2045delp.Pro671Alafs*34PHEXSmall deletionFrameshiftPathogenic<533666701Exon 20
PHEX_1081c.2011C>Ap.Pro671ThrPHEXSNVMissenseUncertain Significance<534141703Exon 20
PHEX_0689c.2012delp.Pro671Leufs*16PHEXSmall deletionFrameshiftPathogenic<5Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities34806794Exon 20
PHEX_0691c.2018_2036delp.Leu673Profs*8PHEXSmall deletionFrameshiftPathogenic<5Other Musculoskeletal Abnormalities, Lower Limb Deformities19219621, 34806794Exon 20
PHEX_0690c.2018T>Gp.Leu673ArgPHEXSNVMissensePathogenic<5Lower limb deformities29460029, 34806794Exon 20
PHEX_0692c.2021delp.Pro674Glnfs*13