X-Linked Hypophosphatemia

Home » X-linked hypophosphatemia » PHEX

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 Observed RangePhenotypePMIDLocation
PHEX_0001c.-562-?_118+?delDeletion (Exon 1)PHEXCNVDeletionPathogenic6-10Gait Abnormalities, ....21994957, 32253725, 34806794Exon 1
PHEX_0006c.-562-?_187+?delDeletion (Exons 1-2)PHEXCNVDeletionPathogenic6-10Fractures/Pseudo-Fra....34141703, 348067945' UTR
PHEX_0004c.-562-?_349+?delDeletion (Exons 1-3)PHEXCNVDeletionPathogenic3-516636593, 11502829, 19581284, 22577109, 33666701, 34141703, 34806794Exon 1 - 3
PHEX_0007c.-562-?_663+?delDeletion (Exons 1-5)PHEXCNVDeletionPathogenic3-5348067945' UTR
PHEX_0014c.-562-?_1173+?delDeletion (Exons 1-10)PHEXCNVDeletionPathogenic< 3348067945' UTR
PHEX_0814c.-562-?_1586+?delDeletion (Exons 1-14)PHEXCNVDeletionPathogenic< 3Gait abnormalities, ....348067945' UTR
PHEX_0003c.-562-?_1645+?delDeletion (Exons 1-15)PHEXCNVDeletionPathogenic< 3348067945' UTR
PHEX_1115c.-562-?_1404+?delDeletion (Exons 1-12)PHEXCNVDeletionPathogenic<3Gait abnormalities, ....5' UTR
PHEX_0015c.-562-?_*3357+?delDeletion (Exons 1-22)PHEXCNVDeletionPathogenic< 3Bone and/or joint pa....348067945' UTR
PHEX_0008c.-430A>Gp.?PHEXSNVUntranslated region< 39768674, 348067945' UTR
PHEX_0009c.-92G>Ap.?PHEXSNVUntranslated region< 39768674, 348067945' UTR
PHEX_0010c.-33C>Tp.?PHEXSNVUntranslated region< 39768674, 34806794, 192196215' UTR
PHEX_0013c.-29_118+534delDeletion (Exon 1)PHEXSplicingDeletion< 3348067945' UTR
PHEX_0011c.-14_8delinsTGGGAGCAGCGTGGp.?PHEXSmall insertionDeletion< 322695891, 34806794Exon 1
PHEX_0016c.1A>Gp.Met1?PHEXSNVMissense< 321994957, 30682568, 34806794Exon 1
PHEX_0017c.2T>Cp.Met1?PHEXSNVUnknownPathogenic< 334806794Exon 1
PHEX_0018c.4G>Tp.Glu2*PHEXSNVNonsense3-5Other Musculoskeleta....26051471, 34806794Exon 1
PHEX_0019c.10G>Cp.Glu4GlnPHEXSNVMissense< 316636593, 31180159, 34141703, 34806794Exon 1
PHEX_0020c.15_16delp.Gly6Glufs*44PHEXSmall deletionFrameshiftPathogenic3-5Gait abnormalities, ....22577109, 34806794Exon 1
PHEX_0021c.17_18delp.Gly6Glufs*44PHEXSmall deletionFrameshift< 316636593, 11502829, 34806794Exon 1
PHEX_0022c.20_21insAGp.Ser7Argfs*24PHEXSmall insertionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 1
PHEX_0023c.24C>Tp.Ser8=PHEXSNVSynonymous< 311502829, 34806794Exon 1
PHEX_0024c.27_28insAp.Glu10Argfs*41PHEXSmall insertionFrameshiftPathogenic< 3Lower Limb Deformities34806794Exon 1
PHEX_0025c.30_36delp.Thr11Argfs*19PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 1
PHEX_0026c.49A>Tp.Arg17*PHEXSNVNonsensePathogenic< 3Gait Abnormalities34806794Exon 1
PHEX_0982c.51_52dupp.Gly18Glufs*15PHEXSmall insertionFrameshiftPathogenic<3abnormal bone develo....32253725Exon 1
PHEX_0027c.58C>Tp.Arg20*PHEXSNVNonsensePathogenic11-20Other Musculoskeleta....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< 3Tooth Abscesses and/....23079138, 24926462, 18162710, 30599486, 34806794Exon 1
PHEX_0029c.67_74delp.Leu23Valfs*25PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 1
PHEX_0030c.68delp.Leu23Argfs*9PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 1
PHEX_0032c.77_78delp.Phe26Cysfs*24PHEXSmall deletionFrameshift6-10Other Musculoskeletal Abnormalities30607568, 33639975, 21902834, 34806794Exon 1
PHEX_0033c.82G>Ap.Gly28SerPHEXSNVMissense3-519513579, 34806794Exon 1
PHEX_0034c.83delp.Gly28Valfs*4PHEXSmall deletionFrameshiftPathogenic< 3Gait Abnormalities34806794Exon 1
PHEX_0035c.117delp.Val40*PHEXSmall deletionNonsense< 3Other Musculoskeleta....19219621, 34806794Exon 1 - 2
PHEX_0037c.118+1G>Ap.?PHEXSplicingSplice donorPathogenic3-5Fractures/Pseudo-Fra....16636593, 25031893, 15057978, 34141703, 34806794Intron 1
PHEX_0038c.118+1G>TSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 1
PHEX_0036c.118+2delSplice donorPHEXSplicingSplice donorLikely Pathogenic< 334806794Intron 1
PHEX_0816c.118+2T>Gp.?PHEXSplicingSplice donor< 333639975, 34806794Intron 1
PHEX_0983c.118+951C>Tp.?PHEXSplicingIntronicBenign<319581284Intron 1
PHEX_0984c.118+2130T>Ap.?PHEXSplicingIntronicUncertain Significance<319581284Intron 1
PHEX_0985c.119-455C>Tp.?PHEXSplicingIntronicBenign<322666411Intron 1
PHEX_0043c.119-1G>ASplice acceptorPHEXSplicingSplice acceptor< 316636593, 7550339, 34806794Intron 1
PHEX_0041c.119-1G>CSplice acceptorPHEXSplicingSplice acceptor< 316636593, 7550339, 34806794Intron 1
PHEX_0039c.119-?_187+?delDeletion (Exon 2)PHEXCNVDeletionLikely Pathogenic< 332329911, 34806794Exon 2
PHEX_0042c.119-?_*3357+?dupGain (Exons 2-22)PHEXCNVDuplicationUncertain Significance< 334806794Intron 1
PHEX_0044c.124delp.Gln42Lysfs*4PHEXSmall deletionFrameshiftPathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 2
PHEX_0045c.133_134delp.Leu45Lysfs*5PHEXSmall deletionFrameshift< 323813354, 34806794Exon 2
PHEX_1116c.134_135ins?p.Leu45fsPHEXSmall insertionPathogenic<3Exon 2
PHEX_0047c.134T>Ap.Leu45*PHEXSNVNonsensePathogenic3-5Lower Limb Deformities34806794Exon 2
PHEX_0046c.134T>Gp.Leu45*PHEXSNVNonsensePathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 2
PHEX_0048c.142C>Tp.Gln48*PHEXSNVNonsense< 3Other Musculoskeleta....25839938, 19219621, 34806794Exon 2
PHEX_0049c.148A>Tp.Lys50*PHEXSNVNonsense< 3Other Musculoskeleta....25839938, 22527485, 34806794Exon 2
PHEX_0050c.151C>Tp.Gln51*PHEXSNVNonsensePathogenic6-10Tooth Abscesses and/....25839938, 11502829, 31485552, 9097956, 16636593, 34806794Exon 2
PHEX_0051c.154G>Tp.Glu52*PHEXSNVNonsensePathogenic3-5Lower Limb Deformities28383812, 34806794Exon 2
PHEX_0052c.159C>Ap.Tyr53*PHEXSNVNonsensePathogenic< 334806794Exon 2
PHEX_0986c.160delp.Cys54Alafs*2PHEXSmall deletionFrameshiftPathogenic<332253725Exon 2
PHEX_0987c.161dupp.Cys54Trpfs*16PHEXSmall insertionFrameshiftPathogenic<3Gait abnormalities, ....Exon 2
PHEX_0053c.162C>Ap.Cys54*PHEXSNVNonsense< 330682568, 34806794Exon 2
PHEX_0054c.166A>Tp.Lys56*PHEXSNVNonsensePathogenic< 334806794Exon 2
PHEX_0055c.174delp.Glu58Aspfs*10PHEXSmall deletionFrameshift< 3bowed or bent legs32329911, 34806794Exon 2
PHEX_0056c.176G>Cp.Cys59SerPHEXSNVMissense3-5Lower Limb Deformities19513579, 34806794Exon 2
PHEX_0057c.177C>Ap.Cys59*PHEXSNVNonsensePathogenic3-5Fractures/Pseudo-Fra....34806794Exon 2
PHEX_0058c.179_436delp.Ile60_Glu145delPHEXCNVDeletion< 316636593, 34806794Exons 2-4
PHEX_0059c.181G>Tp.Glu61*PHEXSNVNonsense< 321994957, 34806794Exon 2
PHEX_0060c.185C>Tp.Ala62ValPHEXSplicingIntronicUncertain Significance< 3Gait abnormalities, ....34806794Exon 2
PHEX_0061c.187delp.Ala63Leufs*5PHEXSmall deletionFrameshift< 322577109, 34806794Exons 2-3
PHEX_0988c.187+1G>Cp.?PHEXSplicingSplice donorPathogenic<334141703Intron 2
PHEX_0063c.187+1G>Tp.?PHEXSplicingSplice donor< 3Lower Limb Deformities16636593, 29505567, 10439971, 34806794Intron 2
PHEX_0062c.187+2T>ASplice donorPHEXSplicingSplice donorLikely Pathogenic< 3Gait Abnormalities, ....34806794Intron 2
PHEX_0989c.187+3_187+6delIntronicPHEXSmall deletionSplice donorUncertain Significance<3Bone and/or joint pa....Intron 2
PHEX_0990c.187+354C>Tp.?PHEXSplicingIntronicBenign<319581284Intron 2
PHEX_0991c.187+416G>Ap.?PHEXSplicingIntronicBenign<319581284Intron 2
PHEX_0992c.187+491G>Ap.?PHEXSplicingIntronicUncertain Significance<319581284Intron 2
PHEX_0993c.188-3779C>Gp.?PHEXSplicingIntronicUncertain Significance<319581284Intron 2
PHEX_0994c.188-3425G>Ap.?PHEXSplicingIntronicBenign<319581284Intron 2
PHEX_0995c.188-3319T>Cp.?PHEXSplicingIntronicBenign<319581284Intron 2
PHEX_0069c.188-47C>Tp.?PHEXSplicingIntronic< 319219621, 34806794Intron 2
PHEX_0067c.188-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic3-5Lower limb deformities, Reduced Serum Phosphate34806794Intron 2
PHEX_0066c.188-1G>Cp.?PHEXSplicingSplice acceptor3-5Tooth Abscesses and/....11502829, 34806794Intron 2
PHEX_0064c.188-?_349+?delDeletion (Exon 3)PHEXCNVDeletionPathogenic3-5Fractures/Pseudo-Fra....23079138, 24926462, 21902834, 34806794Exon 3
PHEX_0065c.188-?_349+?dupGain (Exon 3)PHEXCNVDuplication< 321902834, 34806794Exon 3
PHEX_0817c.188-?_1302+?dupGain (Exons 3-11)PHEXCNVDuplicationPathogenic< 334806794Intron 2
PHEX_0070c.188-?_1404+?dupGain (Exons 3-12)PHEXCNVDuplicationLikely Pathogenic< 334806794Intron 2
PHEX_0071c.200T>Gp.Leu67*PHEXSNVNonsense< 316636593, 34806794Exon 3
PHEX_0073c.201_202dupp.Ser68Lysfs*4PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 3
PHEX_0996c.202dupp.Ser68Lysfs*2PHEXSmall insertionFrameshiftPathogenic<3Fractures/pseudo-fractures, Short StatureExon 3
PHEX_0074c.204delp.Ser68Argfs*3PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 3
PHEX_0075c.204dupp.Lys69*PHEXSmall insertionNonsense< 330607568, 33639975, 34806794Exon 3
PHEX_0076c.208_212delp.Val70Serfs*7PHEXSmall deletionFrameshiftPathogenic6-10Gait Abnormalities, ....26377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 34806794Exon 3
PHEX_0077c.212A>Cp.Asn71ThrPHEXSNVMissense< 321050253, 34806794Exon 3
PHEX_0078c.212A>Tp.Asn71IlePHEXSNVMissense6-10Short Stature, Other Musculoskeletal Abnormalities30607568, 33639975, 21902834, 34806794Exon 3
PHEX_0080c.218_221delp.Ser73Trpfs*16PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 3
PHEX_0082c.221_222delp.Val74Glyfs*4PHEXSmall deletionFrameshiftPathogenic< 322577109, 34806794Exon 3
PHEX_1102c.221delp.Val74Glyfs*16PHEXSmall deletionFrameshiftPathogenic<334141703Exon 3
PHEX_0083c.227_238dupp.Asn79_Phe80insSerCysAspAsnPHEXSmall duplicationInsertionPathogenic< 334806794Exon 3
PHEX_0997c.227_240delp.Pro76Leufs*6PHEXSmall deletionFrameshiftPathogenic<3Exon 3
PHEX_0084c.229T>Ap.Cys77SerPHEXSNVMissense< 3Other Musculoskeleta....26051471, 34806794Exon 3
PHEX_0998c.229T>Cp.Cys77ArgPHEXSNVMissenseLikely Pathogenic3-5short stature, genu varum, teeth falling out34141703, 27840894Exon 3
PHEX_0086c.230G>Ap.Cys77TyrPHEXSNVMissenseLikely Pathogenic3-5bowed or bent legs32329911, 34806794Exon 3
PHEX_0085c.230G>Cp.Cys77SerPHEXSNVMissensePathogenic3-5Hearing Abnormalitie....16636593, 19219621, 9097956, 10874297, 12001226, 32253725, 34806794Exon 3
PHEX_0087c.230G>Tp.Cys77PhePHEXSNVMissensePathogenic3-5Lower Limb Deformiti....34806794Exon 3
PHEX_0088c.231T>Gp.Cys77TrpPHEXSNVMissense< 330682568, 34806794Exon 3
PHEX_0089c.239T>Cp.Phe80SerPHEXSNVMissensePathogenic< 317710565, 12001226, 34806794Exon 3
PHEX_0091c.241T>Cp.Phe81LeuPHEXSNVMissenseUncertain Significance< 334806794Exon 3
PHEX_0092c.242T>Cp.Phe81SerPHEXSNVMissense< 3Other Musculoskeletal Abnormalities10439971, 23079138, 16636593, 24926462, 17710565, 34806794Exon 3
PHEX_0093c.250G>Cp.Ala84ProPHEXSNVMissenseUncertain Significance< 334806794Exon 3
PHEX_0094c.251C>Ap.Ala84AspPHEXSNVMissense< 325042154, 34806794Exon 3
PHEX_0095c.253T>Cp.Cys85ArgPHEXSNVMissense< 39199930, 11468271, 16636593, 12727977, 14992683, 15470265, 12001226, 19513579, 17710565, 10874297, 25894638, 18046499, 12111239, 34806794Exon 3
PHEX_0096c.254G>Ap.Cys85TyrPHEXSNVMissensePathogenic6-10Lower Limb Deformities11502829, 30682568, 9106524, 16636593, 10874297, 12001226, 34806794Exon 3
PHEX_0098c.254G>Cp.Cys85SerPHEXSNVMissensePathogenic3-5bowed or bent legs, ....30682568, 32329911, 34806794Exon 3
PHEX_0097c.254G>Tp.Cys85PhePHEXSNVMissense< 3Other Musculoskeleta....16636593, 19219621, 10874297, 12001226, 34806794Exon 3
PHEX_0999c.255T>Ap.Cys85*PHEXSNVNonsensePathogenic<3Gait abnormalities, ....Exon 3
PHEX_0099c.263G>Ap.Trp88*PHEXSNVNonsensePathogenic< 334806794Exon 3
PHEX_0100c.264delp.Trp88*PHEXSmall deletionNonsense3-523813354, 21293852, 18046499, 24857004, 34806794Exon 3
PHEX_0101c.275_280delinsTp.Asn92Ilefs*17PHEXSmall insertionFrameshiftPathogenic< 334806794Exon 3
PHEX_0102c.288A>Gp.Glu96=PHEXSNVSynonymous< 318625346, 34806794Exon 3
PHEX_0103c.288delp.Asp97Ilefs*11PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 3
PHEX_0104c.289_349+836delinsAAGATATGCCTSplice DonorPHEXSplicingSplice donorLikely Pathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 3
PHEX_0105c.294_295insAAGAGp.Pro99Lysfs*11PHEXSmall insertionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 3
PHEX_0106c.304G>Ap.Gly102ArgPHEXSNVMissensePathogenic11-20bowed or bent legs, ....29901142, 34141703, 27840894, 34806794Exon 3
PHEX_1000c.304G>Tp.Gly102TrpPHEXSNVMissenseLikely Pathogenic<3Gait abnormalities, ....Exon 3
PHEX_0107c.307delp.Val103Phefs*5PHEXSmall deletionFrameshiftPathogenic< 3Fractures/Pseudo-Fra....34806794Exon 3
PHEX_0818c.310delp.Tyr104Ilefs*4PHEXSmall deletionFrameshift< 332329911, 34806794Exon 3
PHEX_1001c.316delp.Trp106Glyfs*2PHEXSmall deletionFrameshiftPathogenic<3Gait abnormalities, ....Exon 3
PHEX_0108c.318G>Ap.Trp106*PHEXSNVNonsensePathogenic< 334806794Exon 3
PHEX_0819c.325_326dupp.Asn110Ilefs*7PHEXSmall duplicationFrameshift< 333295632, 34806794Exon 3
PHEX_0109c.327delp.His109Glnfs*7PHEXSmall deletionFrameshift< 39768674, 16636593, 34806794Exon 3
PHEX_0079c.328_330delp.Asn110delPHEXCNVDeletion< 320157195, 18625346, 34806794Exon 3
PHEX_0111c.329_330insCp.Val111Cysfs*2PHEXSmall insertionFrameshift< 39768674, 34806794Exon 3
PHEX_0112c.332_334delp.Val111delPHEXSmall deletionDeletionLikely Pathogenic< 334806794Exon 3
PHEX_0820c.349+1G>Ap.?PHEXSplicingSplice donor< 316636593, 34806794Intron 3
PHEX_0114c.349+1G>CSplice donorPHEXSplicingSplice donorLikely Pathogenic< 334806794Intron 3
PHEX_0821c.349+1G>TSplice donorPHEXSplicingSplice donorPathogenic< 3Lower limb deformities34806794Intron 3
PHEX_0115c.349+2delSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 3
PHEX_0116c.349+2T>Cp.?PHEXSplicingSplice donorPathogenic< 3Other Musculoskeleta....19219621, 34141703, 34806794Intron 3
PHEX_1002c.350-14216G>Ap.?PHEXSplicingIntronicBenign<321618345Intron 3
PHEX_0126c.350-2A>Gp.?PHEXSplicingSplice acceptorPathogenic3-5Other Musculoskeleta....26051471, 29460029, 34806794Intron 3
PHEX_0120c.350-1G>Ap.?PHEXSplicingSplice acceptor< 322577109, 34806794Intron 3
PHEX_1003c.350-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic<3Intron 3
PHEX_0125c.350-1G>Tp.?PHEXSplicingSplice acceptor3-5Other Musculoskeleta....22101457, 29460029, 19219621, 34806794Intron 3
PHEX_0127c.350-?_436+?delDeletion (Exon 4)PHEXCNVDeletionPathogenic< 3Fractures/Pseudo-Fra....32253725, 34806794Intron 3
PHEX_0122c.350-?_663+?delDeletion (Exons 4-5)PHEXCNVDeletionPathogenic3-516636593, 9199930, 34806794Exons 4-5
PHEX_0119c.350-?_732+?delDeletion (Exons 4-6)PHEXCNVDeletionPathogenic< 334806794Intron 3
PHEX_1117c.350-?_933+?dupGain (Exons 4-8)PHEXDuplicationPathogenic<3Lower limb deformities, Short StatureIntron 3
PHEX_1118c.350-?_1079+?dupGain (Exons 4-9)PHEXDuplicationLikely Pathogenic<3Tooth abscesses and/....Intron 3
PHEX_0124c.350-?_1404+?delDeletion (Exons 4-12)PHEXCNVDeletionPathogenic< 3abnormal bone develo....32253725, 34806794Intron 3
PHEX_0128c.350-?_1899+?delDeletion (Exons 4-18)PHEXCNVDeletion< 322695891, 34806794Exons 4-18
PHEX_0118c.350-?_*3357+?delDeletion (Exons 4-22)PHEXCNVDeletionPathogenic< 334806794Intron 3
PHEX_0129c.361A>Tp.Lys121*PHEXSNVNonsensePathogenic< 334806794Exon 4
PHEX_0113c.388G>Tp.Glu130*PHEXSNVNonsense< 330075510, 34806794Exon 4
PHEX_0130c.395_398dupp.Gln133Hisfs*14PHEXSmall duplicationFrameshift< 3nephrocalcinosis24926462, 23079138, 21902834, 34806794Exon 4
PHEX_0131c.397C>Tp.Gln133*PHEXSNVNonsensePathogenic3-5Gait Abnormalities, ....21050253, 18057152, 34806794Exon 4
PHEX_0132c.401_402insGCCAAAp.Lys134_Ala135insProLysPHEXSmall insertionInsertion< 3Lower Limb Deformities28383812, 34806794Exon 4
PHEX_1004c.402delp.Ala135Profs*9PHEXSmall deletionFrameshiftPathogenic<334141703Exon 4
PHEX_0133c.404C>Ap.Ala135AspPHEXSNVMissenseUncertain Significance< 334806794Exon 4
PHEX_0823c.409dupp.Ile137Asnfs*9PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 4
PHEX_1103c.411_414delp.Leu138Ilefs*5PHEXSmall deletionFrameshiftPathogenic<334141703Exon 4
PHEX_0134c.412delp.Leu138Phefs*6PHEXSmall deletionFrameshift3-5Short Stature, Lower Limb Deformities24229582, 16636593, 15057978, 24857004, 34806794Exon 4
PHEX_1005c.413_419dupp.Ser141Leufs*7PHEXSmall insertionFrameshiftPathogenic<3Exon 4
PHEX_0135c.413T>Cp.Leu138ProPHEXSNVMissense3-5Other Musculoskeleta....10439971, 27884786, 23079138, 9097956, 16636593, 24926462, 19219621, 10874297, 34806794Exon 4
PHEX_0136c.415delp.Tyr139Ilefs*5PHEXSmall deletionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 4
PHEX_0137c.416A>Gp.Tyr139CysPHEXSNVMissensePathogenic3-5Gait Abnormalities, ....34806794Exon 4
PHEX_0138c.418T>Cp.Ser140ProPHEXSNVMissense< 334806794Exon 4
PHEX_0139c.419C>Gp.Ser140*PHEXSNVNonsensePathogenic< 334806794Exon 4
PHEX_0140c.421T>Cp.Ser141ProPHEXSNVMissense< 316636593, 26894575, 34806794Exon 4
PHEX_0141c.422C>Tp.Ser141PhePHEXSNVMissense3-5Short Stature, Lower Limb Deformities26894575, 34806794Exon 4
PHEX_0142c.423delp.Cys142Alafs*2PHEXSmall deletionFrameshiftPathogenic< 3Tooth Abscesses and/....34806794Exon 4
PHEX_0143c.424T>Cp.Cys142ArgPHEXSNVMissense< 325086671, 34806794Exon 4
PHEX_0145c.425G>Cp.Cys142SerPHEXSNVMissenseUncertain Significance3-5Other Musculoskeleta....10439971, 16636593, 32253725, 34806794Exon 4
PHEX_0144c.425G>Tp.Cys142PhePHEXSNVMissensePathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 4
PHEX_0146c.426C>Ap.Cys142*PHEXSNVNonsensePathogenic< 334806794Exon 4
PHEX_0147c.433G>Tp.Glu145*PHEXSNVNonsense< 330393837, 34806794Exon 4
PHEX_1006c.436_436+1delp.?PHEXSmall deletionSplice donorPathogenic3-5short stature, genu varum34141703, 27840894Exon 4, Intron 4
PHEX_0149c.436+1G>Ap.?PHEXSplicingSplice donorPathogenic< 3Short Stature, Lower....24857004, 29505567, 34806794Intron 4
PHEX_0153c.436+1G>Cp.?PHEXSplicingSplice donorPathogenic3-5stunted growth, genu varum18625346, 29505567, 34141703, 27840894, 34806794Intron 4
PHEX_0151c.436+1G>Tp.?PHEXSplicingSplice donor3-5Short Stature, Lower Limb Deformities29460029, 29505567, 34806794Intron 4
PHEX_0156c.436+2T>Ap.?PHEXSplicingSplice donorPathogenic3-5Lower Limb Deformiti....10439971, 31102713, 16636593, 34806794Intron 4
PHEX_0155c.436+3G>Cp.?PHEXSplicingIntronicLikely Pathogenic3-5Short Stature, Other Musculoskeletal Abnormalities31102713, 21902834, 24857004, 34806794Intron 4
PHEX_0150c.436+4A>Cp.?PHEXSplicingIntronic3-5Other Musculoskeleta....31102713, 19219621, 24857004, 34806794Intron 4
PHEX_0154c.436+4A>GIntronicPHEXSplicingIntronicPathogenic3-534806794Intron 4
PHEX_0824c.436+4A>Tp.?PHEXSplicingIntronic< 333639975, 34806794Intron 4
PHEX_1007c.436+5_436+8delp.?PHEXSmall deletionSplice donorUncertain Significance<318625346Intron 4
PHEX_0157c.436+5G>AIntronicPHEXSplicingIntronicUncertain Significance< 334806794Intron 4
PHEX_0152c.436+5G>Tp.?PHEXSplicingIntronic< 315057978, 34806794Intron 4
PHEX_1008c.436+6T>AIntronicPHEXSplicingSplice donorLikely Pathogenic<3Gait abnormalities, ....Intron 4
PHEX_0148c.436+6T>Cp.?PHEXSplicingIntronic6-10Muscle Pain and/or W....18252791, 31102713, 24857004, 34806794Intron 4
PHEX_0160c.437-3C>Gp.?PHEXSplicingIntronicUncertain Significance3-5Other Musculoskeleta....31102713, 19219621, 24857004, 34806794Intron 4
PHEX_0161c.437-2A>CSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic< 334806794Intron 4
PHEX_0159c.437-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic3-5Gait Abnormalities, ....34806794Intron 4
PHEX_0162c.437-?_1404+?delDeletion (Exons 5-12)PHEXCNVDeletionPathogenic< 334806794Intron 4
PHEX_0825c.444delp.Ile148Metfs*73PHEXSmall deletionFrameshiftPathogenic< 3Gait abnormalities, Lower limb deformities34806794Exon 5
PHEX_0163c.455dupp.Asp152Glufs*20PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 5
PHEX_0164c.457dupp.Ala153Glyfs*19PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 5
PHEX_0165c.463C>Gp.Pro155AlaPHEXSNVMissense< 322996961, 34806794Exon 5
PHEX_0166c.465_466dupp.Leu156Hisfs*66PHEXSmall insertionFrameshift< 3Tooth Abscesses and/....24926462, 30599486, 23079138, 22261628, 18162710, 34806794Exon 5
PHEX_0826c.468dupp.Leu157Alafs*15PHEXSmall duplicationFrameshiftPathogenic< 3Lower limb deformities, Reduced Serum Phosphate34806794Exon 5
PHEX_0827c.471delp.His158Thrfs*63PHEXSmall deletionFrameshift< 333639975, 34806794Exon 5
PHEX_0167c.479T>Gp.Leu160ArgPHEXSNVMissense< 316636593, 11004247, 34806794Exon 5
PHEX_0168c.482G>Cp.Arg161ProPHEXSNVMissenseLikely Pathogenic3-5Lower Limb Deformities21050253, 34806794Exon 5
PHEX_0169c.485A>Gp.His162ArgPHEXSNVMissense< 39768674, 34806794Exon 5
PHEX_1009c.488C>Ap.Ser163*PHEXSNVNonsensePathogenic<3short stature, pain, dental abscesses33796255Exon 5
PHEX_0170c.489A>Gp.Ser163=PHEXSNVSynonymous< 39768674, 34806794Exon 5
PHEX_0171c.496C>Tp.Arg166CysPHEXSNVMissense< 3Tooth Abscesses and/....10439971, 11502829, 23079138, 16636593, 24926462, 34806794Exon 5
PHEX_0172c.497delp.Arg166Profs*55PHEXSmall deletionFrameshift< 3Other Musculoskeleta....30075510, 34806794Exon 5
PHEX_0173c.499T>Cp.Trp167ArgPHEXSNVMissenseLikely Pathogenic6-10radiological signs o....33639975, 34806794Exon 5
PHEX_1010c.501G>Ap.Trp167*PHEXSNVNonsensePathogenic<333666701Exon 5
PHEX_0174c.503C>Tp.Pro168LeuPHEXSNVMissensePathogenic6-10Gait Abnormalities, Lower Limb Deformities16261449, 29460029, 34806794Exon 5
PHEX_0175c.505G>Ap.Val169MetPHEXSNVMissense6-10Other Musculoskeleta....19219621, 34806794Exon 5
PHEX_0176c.508_529delp.Leu170Lysfs*44PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 5
PHEX_1011c.518_520delATAinsTTp.Asn173Ilefs*48PHEXDeletion/InsertionFrameshiftPathogenic<3abnormal bone develo....32253725Exon 5
PHEX_1012c.528delp.Glu177Lysfs*44PHEXSmall deletionFrameshiftPathogenic<3genu varum34141703, 27840894Exon 5
PHEX_0177c.537T>Ap.Val179=PHEXSNVSynonymous< 39768674, 34806794Exon 5
PHEX_0178c.538delp.Trp180Glyfs*41PHEXSmall deletionFrameshiftPathogenic6-1019201216, 27884786, 19219621, 34806794Exon 5
PHEX_0179c.540G>Ap.Trp180*PHEXSNVNonsensePathogenic< 3Fractures/Pseudo-Fra....34806794Exon 5
PHEX_0180c.542C>Gp.Ser181*PHEXSNVNonsense< 329460029, 34806794Exon 5
PHEX_0181c.547_548delp.Arg183Lysfs*28PHEXSmall deletionFrameshift< 323813354, 34806794Exon 5
PHEX_1104c.548_549delp.Arg183Lysfs*28PHEXSmall deletionFrameshiftPathogenic<3abnormal bone develo....32253725Exon 5
PHEX_0182c.551dupp.Phe185Valfs*27PHEXSmall duplicationFrameshiftPathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 5
PHEX_0828c.552delp.Lys184Asnfs*37PHEXSmall deletionFrameshiftPathogenic< 3Reduced Serum Phosph....34806794Exon 5
PHEX_0184c.565C>Tp.Gln189*PHEXSNVNonsense3-5Short Stature, Other....16261449, 23079138, 12414858, 24926462, 21902834, 16636593, 33796255, 34806794Exon 5
PHEX_0829c.567_568delp.Gln189Hisfs*22PHEXSmall deletionFrameshift< 329707405, 34806794Exon 5
PHEX_0183c.567_576delp.Thr190Argfs*28PHEXSmall deletionFrameshift3-522577109, 34806794Exon 5
PHEX_1013c.572T>Cp.Leu191ProPHEXSNVMissenseLikely Pathogenic<3short stature, pain,....32253725Exon 5
PHEX_0185c.574dupp.Ala192Glyfs*20PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 5
PHEX_0186c.589C>Tp.Gln197*PHEXSNVNonsense< 3Short Stature, Bone ....30599486, 34806794Exon 5
PHEX_0187c.591A>Gp.Gln197=PHEXSNVSynonymousPathogenic11-20Other Musculoskeleta....21902834, 29393334, 34806794Exon 5
PHEX_0188c.593dupp.Tyr198*PHEXSmall duplicationNonsensePathogenic< 334806794Exon 5
PHEX_1105c.594C>Ap.Tyr198*PHEXSNVNonsensePathogenic<3abnormal bone development, short stature32253725Exon 5
PHEX_0189c.594C>Gp.Tyr198*PHEXSNVNonsense< 316636593, 11004247, 34806794Exon 5
PHEX_0190c.610_663+50delp.?PHEXSmall deletionDeletion< 316636593, 9199930, 9097956, 34806794Exon 5, intron 5
PHEX_0830c.614G>Cp.Arg205ProPHEXSNVMissense< 329901142, 34141703, 34806794Exon 5
PHEX_0192c.617T>Ap.Leu206*PHEXSNVNonsensePathogenic< 334806794Exon 5
PHEX_0191c.617T>Gp.Leu206TrpPHEXSNVMissense3-5Short Stature, Lower Limb Deformities16636593, 21293852, 23813354, 24857004, 34806794Exon 5
PHEX_1014c.620_623delp.Tyr207Cysfs*13PHEXSmall deletionFrameshiftPathogenic<333666701Exon 5
PHEX_0193c.621T>Ap.Tyr207*PHEXSNVNonsense< 3Other Musculoskeleta....19219621, 34806794Exon 5
PHEX_0194c.630delp.Asp211Metfs*10PHEXSmall deletionFrameshift< 329460029, 34806794Exon 5
PHEX_1015c.637A>Tp.Lys213*PHEXSNVNonsensePathogenic<334141703Exon 5
PHEX_1016c.643dupp.Ser215Phefs*3PHEXSmall insertionFrameshiftPathogenic<3Exon 5
PHEX_0195c.649G>Tp.Glu217*PHEXSNVNonsensePathogenic3-5Gait abnormalities, ....9768674, 16636593, 34806794Exon 5
PHEX_0831c.652_655delp.His218Serfs*2PHEXSmall deletionFrameshift< 329707405, 34806794Exon 5
PHEX_0196c.655_656delp.Ile219Leufs*18PHEXSmall deletionFrameshift< 3Other Musculoskeleta....26051471, 34806794Exon 5
PHEX_1017c.657_658delp.Leu220Glufs*17PHEXSmall deletionFrameshiftPathogenic<3short stature, pectus carinatum32253725Exon 5
PHEX_0198c.663_663+12delIntronicPHEXSmall deletionSplice donor< 3Other Musculoskeleta....25153221, 34806794Exon 5, Intron 5
PHEX_0197c.663_1176delp.Leu222Serfs*15PHEXCNVFrameshift< 321050253, 34806794Exon 6
PHEX_0199c.663G>Ap.Lys221=PHEXSplicingsplice donorLikely Pathogenic3-5Reduced Serum Phosph....34806794Exon 5
PHEX_0200c.663+1G>Ap.?PHEXSplicingSplice donorPathogenic3-5Short Stature, Lower....30599486, 25031893, 34806794Intron 5
PHEX_0832c.663+1G>Tp.?PHEXSplicingSplice donorPathogenic3-533295632, 34806794Intron 5
PHEX_0201c.663+2delp.?PHEXSmall deletionSplice donor3-523813354, 21293852, 24857004, 34806794Intron 5
PHEX_0202c.663+2T>ASplice donorPHEXSplicingSplice donorPathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Intron 5
PHEX_0203c.663+2T>CSplice donorPHEXSplicingSplice donorPathogenic3-5Lower Limb Deformiti....34806794Intron 5
PHEX_0204c.664-2A>CSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic< 334806794Intron 5
PHEX_0833c.664-1G>Cp.?PHEXSplicingSplice acceptor< 332329911, 34806794Intron 5
PHEX_0205c.664-?_732+?delDeletion (Exon 6)PHEXCNVDeletionPathogenic< 39768674, 9199930, 16636593, 34806794Exon 6
PHEX_1119c.664-?_732+?dupGain (Exon 6)PHEXSmall duplicationUncertain Significance<3Exon 6
PHEX_1120c.664-?_849+?delDeletion (Exons 6-7)PHEXDeletion3-533666701Exon 6 - 7
PHEX_0206c.664-?_933+?delDeletion (Exons 6-8)PHEXCNVDeletionPathogenic< 334806794Intron 5
PHEX_0207c.664-?_1079+?delDeletion (Exons 6-9)PHEXCNVDeletionPathogenic< 334806794Intron 5
PHEX_1121c.664-?_1302+?delDeletion (Exons 6-11)PHEXDeletion<334141703Exon 6 - 11
PHEX_0834c.665_674delp.Leu222Glnfs*7PHEXSmall deletionFrameshift< 329707405, 34806794Exon 6
PHEX_0208c.665T>Cp.Leu222ProPHEXSNVMissense< 3Other Musculoskeleta....19219621, 34806794Exon 6
PHEX_0209c.670C>Tp.Gln224*PHEXSNVNonsensePathogenic6-10bowed or bent legs, ....23079138, 32133333, 21293852, 24857004, 16636593, 24926462, 24857004, 33783172, 34806794Exon 6
PHEX_1018c.671_685delp.Gln224_Ser228delPHEXSmall deletionDeletionLikely Pathogenic<3short stature, bowed....33907069Exon 6
PHEX_0210c.674delp.Ala225Glufs*7PHEXSmall deletionFrameshift< 321050253, 34806794Exon 6
PHEX_0211c.677delp.Thr226Asnfs*6PHEXSmall deletionFrameshift< 316636593, 15057978, 34806794Exon 6
PHEX_0214c.682_683delp.Ser228Profs*9PHEXSmall deletionFrameshiftPathogenic3-5hearing loss, renal calcification, hypothyroidism16636593, 9199930, 33639975, 21553362, 34806794Exon 6
PHEX_0213c.682dupp.Ser228Phefs*10PHEXSmall duplicationFrameshift< 3Short Stature, Other Musculoskeletal Abnormalities21902834, 34806794Exon 6
PHEX_0215c.690C>Tp.Ala230=PHEXSNVSynonymous< 3Lower Limb Deformities11502829, 34806794Exon 6
PHEX_0216c.710A>Gp.Asp237GlyPHEXSNVMissense< 310439971, 23079138, 16636593, 24926462, 12727977, 34806794Exon 6
PHEX_0835c.717_721delp.Ser239Argfs*23PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 6
PHEX_1019c.719delp.Thr240Lysfs*21PHEXSmall deletionFrameshiftPathogenic<3Bone and/or joint pa....Exon 6
PHEX_0217c.724delp.Ala242Profs*19PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 6
PHEX_0218c.732+1_732+2delp.?PHEXSmall deletionSplice donor3-5Other Musculoskeleta....27884786, 19219621, 32253725, 34806794Intron 6
PHEX_0836c.732+1G>Ap.?PHEXSplicingSplice donor< 332329911, 34806794Intron 6
PHEX_0219c.732+1G>Cp.?PHEXSplicingSplice donor< 3bowed or bent legs, dental caries32329911, 29460029, 34806794Intron 6
PHEX_0221c.732+1G>Tp.?PHEXSplicingSplice donorPathogenic3-59097956, 24857004, 34806794Intron 6
PHEX_1020c.732+3A>TIntronicPHEXSplicingSplice donorUncertain Significance<3Lower limb deformities, Short StatureIntron 6
PHEX_0220c.732+4_732+5insCAIntronicPHEXSplicingIntronicUncertain Significance< 334806794Intron 6
PHEX_0223c.733-2A>CSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic< 334806794Intron 6
PHEX_1021c.733-2A>TSplice acceptorPHEXSplicingSplice acceptorPathogenic<3Gait abnormalities, ....Intron 6
PHEX_0224c.733-1G>Ap.?PHEXSplicingSplice acceptorPathogenic6-10Gait abnormalities, ....9097956, 34806794Intron 6
PHEX_0226c.733-1G>Cp.?PHEXSplicingSplice acceptorPathogenic< 39097956, 34806794Intron 6
PHEX_0225c.733-1G>Tp.?PHEXSplicingSplice acceptor< 3Other Musculoskeleta....19219621, 34806794Intron 6
PHEX_0222c.733-?_849+?delDeletion (Exon 7)PHEXCNVDeletionLikely Pathogenic< 3Tooth Abscesses and/....34806794Intron 6
PHEX_0837c.733-?_933+?delDeletion (Exons 7-8)PHEXCNVDeletion< 327884786, 34806794Exons 7-8
PHEX_0839c.733-?_1079+?delDeletion (Exons 7-9)PHEXCNVDeletionPathogenic< 3Gait abnormalities, ....34806794Intron 6
PHEX_0838c.733-?_1302+?delDeletion (Exons 7-11)PHEXCNVDeletion< 332329911, 34806794Exons 7-11
PHEX_0227c.735T>Gp.Tyr245*PHEXSNVNonsense< 3genu varum, bowed or....21553362, 34806794Exon 7
PHEX_0840c.739delp.Asp247Metfs*14PHEXSmall deletionFrameshift< 332329911, 34806794Exon 7
PHEX_0229c.750C>Ap.Tyr250*PHEXSNVNonsensePathogenic< 39768674, 16636593, 34806794Exon 7
PHEX_0230c.750C>Gp.Tyr250*PHEXSNVNonsensePathogenic< 3Short Stature, Other Musculoskeletal Abnormalities21902834, 34806794Exon 7
PHEX_0228c.750delp.Tyr250*PHEXSmall deletionFrameshiftPathogenic< 3Lower Limb Deformities34806794Exon 7
PHEX_0231c.751A>Tp.Lys251*PHEXSNVNonsense< 316261449, 34806794Exon 7
PHEX_0233c.755T>Cp.Phe252SerPHEXSNVMissense< 39106524, 16636593, 11502829, 34806794Exon 7
PHEX_1130c.?p.Met253IlePHEXMissenseLikely Pathogenic<311502829Exon 7
PHEX_0232c.759G>Ap.Met253IlePHEXSNVMissensePathogenic< 316636593, 9106524, 34806794Exon 7
PHEX_0236c.763_784dupp.Ala262Glyfs*9PHEXSmall duplicationFrameshift< 334806794Exon 7
PHEX_0238c.766_767dupp.Ala257Leufs*5PHEXSmall duplicationFrameshiftPathogenic< 3Gait Abnormalities, ....34806794Exon 7
PHEX_0237c.766A>Cp.Thr256ProPHEXSNVMissenseUncertain Significance< 334806794Exon 7
PHEX_0841c.767_768delp.Thr256Serfs*7PHEXSmall deletionFrameshift< 332897287, 34806794Exon 7
PHEX_0240c.779T>Gp.Leu260*PHEXSNVNonsensePathogenic< 334806794Exon 7
PHEX_0241c.784G>Cp.Ala262ProPHEXSNVMissense< 3Other Musculoskeletal Abnormalities24926462, 23079138, 21902834, 34806794Exon 7
PHEX_0242c.800C>Ap.Ala267GluPHEXSNVMissense< 334806794Exon 7
PHEX_1022c.812T>Gp.Met271ArgPHEXSNVMissenseLikely Pathogenic<334141703Exon 7
PHEX_0243c.814A>Tp.Lys272*PHEXSNVNonsensePathogenic< 334806794Exon 7
PHEX_0244c.819_845delp.Val274_Ala282delPHEXSmall deletionDeletionUncertain Significance< 334806794Exon 7
PHEX_0245c.824T>Cp.Leu275ProPHEXSNVMissenseLikely Pathogenic3-5Tooth Abscesses and/....34141703, 27840894, 34806794Exon 7
PHEX_0246c.830T>Ap.Leu277*PHEXSNVNonsense< 3Tooth Abscesses and/....11502829, 23079138, 9106524, 16636593, 24926462, 34806794Exon 7
PHEX_0247c.832G>Ap.Glu278LysPHEXSNVMissense3-5Skull Deformities, Lower Limb Deformities29610183, 34806794Exon 7
PHEX_0248c.832G>Tp.Glu278*PHEXSNVNonsense< 3Other Musculoskeletal Abnormalities10439971, 23079138, 16636593, 24926462, 34806794Exon 7
PHEX_0249c.840_849+1delPHEXSplicingSplice donorPathogenic< 334806794Exon 7
PHEX_0250c.842T>Ap.Ile281LysPHEXSNVMissense< 3bowed or bent legs26377240, 32329911, 34806794Exon 7
PHEX_0251c.845C>Ap.Ala282AspPHEXSNVMissenseUncertain Significance< 334806794Exon 7
PHEX_0252c.847_849+2delPHEXSplicingSplice donorPathogenic< 334806794Exon 7
PHEX_0256c.849+1G>Ap.?PHEXSplicingSplice donorPathogenic3-516636593, 12414858, 24857004, 20578943, 34806794Intron 7
PHEX_1023c.849+1G>Cp.?PHEXSplicingSplice donorPathogenic<3stunted growth, pect....34141703, 27840894Intron 7
PHEX_0254c.849+1G>Tp.?PHEXSplicingSplice donor3-5Other Musculoskeleta....9097956, 21050253, 16636593, 19219621, 34806794Intron 7
PHEX_0842c.849+3A>Gp.?PHEXSplicingIntronic< 333295632, 34806794Intron 7
PHEX_0255c.849+6_849+7insTp.?PHEXSmall insertionIntronic< 3Other Musculoskeleta....19219621, 34806794Intron 7
PHEX_1024c.849+128G>Ap.?PHEXSplicingIntronic<319219621Intron 7
PHEX_0253c.849+1268G>Tp.?PHEXSplicingIntronicUncertain Significance3-5Short Stature, Other....11502821, 34806794Intron 7
PHEX_0261c.850-15_853delinsTCTCTTGGPHEXSplicingSplice acceptorPathogenic< 334806794Intron 7
PHEX_0260c.850-3C>Gp.?PHEXSplicingIntronic< 331102713, 16636593, 34806794Intron 7
PHEX_0257c.850-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic3-534806794Intron 7
PHEX_0258c.850-?_933+?delDeletion (Exon 8)PHEXCNVDeletionLikely Pathogenic< 3Gait Abnormalities, ....34806794Intron 7
PHEX_0262c.850-?_1079+?delDeletion (Exons 8-9)PHEXCNVDeletionPathogenic3-534806794Intron 7
PHEX_0259c.850delp.Ile284*PHEXSmall deletionNonsensePathogenic3-522101457, 29460029, 34806794Exon 8
PHEX_0843c.853dupp.Met285Asnfs*5PHEXSmall duplicationFrameshiftPathogenic< 3Reduced_TmP/GFR_(34806794Exon 8
PHEX_0263c.871C>Tp.Arg291*PHEXSNVNonsensePathogenic30+Other Musculoskeleta....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< 3Gait abnormalities, ....34806794Exon 8
PHEX_0264c.883delp.Ala295Profs*6PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 8
PHEX_0265c.888_890delinsCp.Tyr297*PHEXSmall insertionNonsense< 330607568, 34806794Exon 8
PHEX_0267c.888delinsATp.Met296Ilefs*9PHEXSmall insertionFrameshiftPathogenic< 3Tooth Abscesses and/....34806794Exon 8
PHEX_0845c.891C>Ap.Tyr297*PHEXSNVNonsense< 333639975, 34806794Exon 8
PHEX_0268c.891C>Gp.Tyr297*PHEXSNVNonsensePathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 8
PHEX_1025c.895A>Tp.Lys299*PHEXSNVNonsensePathogenic<3Exon 8
PHEX_0269c.897_898delp.Lys299Asnfs*5PHEXSmall deletionFrameshift< 3Other Musculoskeleta....33639975, 21902834, 34806794Exon 8
PHEX_0270c.898delp.Met300*PHEXSmall deletionFrameshiftPathogenic3-5Gait Abnormalities, ....34806794Exon 8
PHEX_0846c.899_900delp.Met300Lysfs*4PHEXSmall deletionFrameshift< 333295632, 34806794Exon 8
PHEX_0271c.904A>Gp.Ile302ValPHEXSNVMissense< 334806794Exon 8
PHEX_1026c.907delp.Ser303Leufs*3PHEXSmall deletionFrameshiftPathogenic<3Gait abnormalities, ....Exon 8
PHEX_0272c.907T>Ap.Ser303ThrPHEXSNVMissense< 330607568, 34806794Exon 8
PHEX_0273c.914T>Cp.Leu305ProPHEXSNVMissense< 3Cardio Vascular Dise....18775977, 34806794Exon 8
PHEX_1027c.917delp.Ser306Metfs*3PHEXSmall deletionFrameshiftPathogenic<334141703Exon 8
PHEX_0274c.924_927dupp.Pro310Aspfs*15PHEXSmall duplicationFrameshiftPathogenic< 3Fractures/Pseudo-Fra....34806794Exon 8
PHEX_1106c.927delp.Gln311Serfs*20PHEXSmall deletionFrameshiftPathogenic<3abnormal bone develo....32253725Exon 8
PHEX_0275c.931C>Tp.Gln311*PHEXSNVNonsensePathogenic6-10Other Musculoskeleta....9097956, 16636593, 28506344, 19219621, 22161748, 34141703, 27840894, 34806794Exon 8
PHEX_1107c.931delp.Gln311Serfs*20PHEXSmall deletionFrameshiftPathogenic<334141703Exon 8
PHEX_0847c.931dupp.Gln311Profs*13PHEXSmall duplicationFrameshift< 328506344, 34806794Exon 8
PHEX_0276c.933+1G>Ap.?PHEXSplicingSplice donorPathogenic< 3Gait abnormalities, ....30682568, 34806794Intron 8
PHEX_1028c.933+1G>Cp.?PHEXSplicingSplice donorPathogenic<3abnormal bone develo....32253725Intron 8
PHEX_0266c.933+1G>Tp.?PHEXSplicingSplice donorPathogenic< 3Bone and/or joint pa....9199930, 34806794Intron 8
PHEX_0279c.933+2T>ASplice donorPHEXSplicingFrameshift< 334806794Intron 8
PHEX_0278c.934-16_934-12delinsCTACCTAACTGAGATIntronicPHEXSplicingIntronicUncertain Significance< 3Gait Abnormalities, Lower Limb Deformities34806794Intron 8
PHEX_1029c.934-12_936delp.?PHEXSmall deletionSplice acceptorLikely Pathogenic<3abnormal bone develo....32253725Exon 9, Intron 8
PHEX_0277c.934-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic< 39768674, 16636593, 34806794Intron 8
PHEX_0283c.934-1_937dupp.Asp313Glyfs*20PHEXSmall insertionFrameshift< 316636593, 34806794Intron 8, exon 9
PHEX_1030c.934-1G>Ap.?PHEXSplicingSplice acceptorPathogenic<3bowed or bent legs, short stature28509123Intron 8
PHEX_0282c.934-1G>Tp.?PHEXSplicingSplice acceptorPathogenic< 3Short Stature, Lower....24926462, 30599486, 34806794Intron 8
PHEX_0281c.934-?_1079+?delDeletion (Exon 9)PHEXCNVDeletion< 39199930, 34806794Intron 8
PHEX_0280c.934-?_*3357+?delDeletion (Exons 9-22)PHEXCNVDeletionPathogenic< 334806794Intron 8
PHEX_1131c.?p.Trp314ArgPHEXMissenseLikely Pathogenic<322161748Exon 9
PHEX_1108c.940T>Cp.Trp314ArgPHEXSNVMissenseLikely Pathogenic<334141703Exon 9
PHEX_0284c.941G>Ap.Trp314*PHEXSNVNonsensePathogenic< 334806794Exon 9
PHEX_0287c.?p.Trp314*PHEXSNVNonsense3-5Lower Limb Deformities11502829, 34806794Exon 9
PHEX_0286c.942G>Ap.Trp314*PHEXSNVNonsensePathogenic< 3Lower Limb Deformiti....16636593, 34806794Exon 9
PHEX_1031c.943_946delp.Leu315Alafs*15PHEXSmall deletionFrameshiftPathogenic<3Exon 9
PHEX_0288c.947G>Tp.Gly316ValPHEXSNVMissense< 3Short Stature, Lower....25861491, 34806794Exon 9
PHEX_0848c.949T>Ap.Tyr317AsnPHEXSNVMissense< 332329911, 34806794Exon 9
PHEX_0289c.950A>Tp.Tyr317PhePHEXSNVMissense3-5Lower Limb Deformities9768674, 16636593, 12727977, 22161748, 25861491, 21604088, 22713460, 10439971, 34806794Exon 9
PHEX_0290c.956dupp.Lys320Glufs*4PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 9
PHEX_0291c.958_960delp.Lys320delPHEXSmall deletionDeletionUncertain Significance3-5Gait Abnormalities, Lower Limb Deformities26377240, 22695891, 34806794Exon 9
PHEX_0292c.961_962insAGTTACTGp.Val321Glufs*13PHEXSmall insertionFrameshift< 316636593, 9097956, 34806794Exon 9
PHEX_0293c.962ins8FrameshiftPHEXSmall insertionFrameshift< 39768674, 34806794Exon 9
PHEX_0295c.978_979dupp.Tyr327Serfs*5PHEXSmall duplicationFrameshiftPathogenic< 319219621, 34806794Exon 9
PHEX_0296c.979_983dupp.His329Thrfs*4PHEXSmall duplicationFrameshift< 3Short Stature, Lower Limb Deformities29505567, 34806794Exon 9
PHEX_0299c.981C>Gp.Tyr327*PHEXSNVNonsensePathogenic< 3Tooth Abscesses and/or Excessive Dental Caries34806794Exon 9
PHEX_0300c.985dupp.His329Profs*20PHEXSmall insertionFrameshiftPathogenic< 39768674, 16636593, 9768675, 9097956, 34806794Exon 9
PHEX_1109c.986_1004delATCTGAAAGACATCAGCCCp.His329Profs*20PHEXSmall deletionFrameshiftPathogenic<3abnormal bone develo....32253725Exon 9
PHEX_0301c.994delp.Asp332Thrfs*23PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 9
PHEX_0849c.998_1000delp.Ile333delPHEXSmall deletionDeletion< 332329911, 34806794Exon 9
PHEX_0303c.1002_1003insGp.Pro335Alafs*14PHEXSmall insertionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 9
PHEX_0302c.1005delp.Ser336Profs*19PHEXSmall deletionFrameshift< 322577109, 34806794Exon 9
PHEX_0304c.1008dupp.Glu337Argfs*12PHEXSmall insertionMissense< 321994957, 34806794Exon 9
PHEX_0305c.1009G>Tp.Glu337*PHEXSNVNonsensePathogenic< 334806794Exon 9
PHEX_0306c.1013_1018delp.Asn338_Val340delinsMetPHEXSmall deletionDeletion/Insertion< 316636593, 15057978, 34806794Exon 9
PHEX_0850c.1009_1405-9282delPartial Deletion (Exons 9-12)PHEXSplicingSplice donorPathogenic< 3Reduced Serum Phosphate34806794Intron 8
PHEX_1032c.1016T>Ap.Val339GluPHEXSNVMissenseLikely Pathogenic<334141703Exon 9
PHEX_0307c.1020_1022delp.Val341delPHEXSmall deletionDeletionUncertain Significance< 3Reduced_TmP/GFR_(16636593, 34806794Exon 9
PHEX_0308c.1021delp.Val341Serfs*14PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 9
PHEX_0309c.1022dupp.Arg342Profs*7PHEXSmall duplicationFrameshift< 334806794Exon 9
PHEX_0851c.1027G>Ap.Val343IlePHEXSNVMissenseUncertain Significance< 3Lower limb deformities, Reduced Serum Phosphate34806794Exon 9
PHEX_0310c.1033C>Tp.Gln345*PHEXSNVNonsense< 322101457, 29460029, 34806794Exon 9
PHEX_0311c.1034delp.Gln345Argfs*10PHEXSmall deletionFrameshift< 322577109, 34806794Exon 9
PHEX_0312c.1036T>Gp.Tyr346AspPHEXSNVMissense< 3Other Musculoskeleta....19219621, 22161748, 34806794Exon 9
PHEX_0313c.1037A>Gp.Tyr346CysPHEXSNVMissenseUncertain Significance< 334806794Exon 9
PHEX_1033c.1038C>Ap.Tyr346*PHEXSNVNonsensePathogenic<334141703Exon 9
PHEX_0314c.1042A>Tp.Lys348*PHEXSNVNonsense< 3Other Musculoskeleta....16636593, 9097956, 19219621, 22161748, 34806794Exon 9
PHEX_0315c.1044delp.Asp349Ilefs*6PHEXSmall deletionFrameshift< 321050253, 32619592, 34806794Exon 9
PHEX_1034c.1046A>Gp.Asp349GlyPHEXSNVMissenseLikely Pathogenic<3Exon 9
PHEX_0316c.1046dupp.Asp349Glufs*4PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 9
PHEX_1122c.1052_1053ins?p.Phe351fsPHEXSmall insertionPathogenic<3Lower limb deformities, Short StatureExon 9
PHEX_0852c.1053_1077dupp.Lys360*PHEXSmall duplicationNonsensePathogenic< 3Gait abnormalities, Lower limb deformities34806794Exon 9
PHEX_1035c.1065delp.Ser356Leufs*37PHEXSmall deletionFrameshiftPathogenic<3abnormal bone develo....32253725Exon 9
PHEX_0318c.1076delp.Lys359Argfs*34PHEXSmall deletionFrameshift< 316636593, 9097956, 34806794Exon 9
PHEX_0321c.1079+1G>Ap.?PHEXSplicingSplice donorPathogenic6-10Lower Limb Deformiti....32329911, 32133333, 15057978, 21050253, 16636593, 33639975, 34806794Intron 9
PHEX_0322c.1079+1G>Tp.?PHEXSplicingSplice donorPathogenic3-5radiological signs o....33639975, 30607568, 34806794Intron 9
PHEX_0320c.1079+2_1079+5delp.?PHEXSmall deletionSplice donor3-515057978, 19219621, 34141703, 34806794Intron 9
PHEX_0319c.1079+2T>Gp.?PHEXSplicingSplice donorPathogenic< 3Fractures/Pseudo-Fra....10439971, 23079138, 16636593, 24926462, 34806794Intron 9
PHEX_0326c.1080-3C>Ap.?PHEXSplicingIntronic3-5Tooth Abscesses and/....31102713, 26107949, 34806794Intron 9
PHEX_0329c.1080-2A>Cp.?PHEXSplicingSplice acceptor6-10Other Musculoskeleta....26904698, 31102713, 34806794Intron 9
PHEX_0330c.1080-2A>Gp.?PHEXSplicingSplice acceptorPathogenic6-10Other Musculoskeleta....26051471, 9097956, 34806794Intron 9
PHEX_0328c.1080-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic< 334806794Intron 9
PHEX_0327c.1080-?_1173+?delDeletion (Exon 10)PHEXCNVDeletionPathogenic< 334806794Intron 9
PHEX_0325c.1080-?_1302+?delDeletion (Exons 10-11)PHEXCNVDeletionPathogenic6-10Fractures/Pseudo-Fra....16636593, 32253725, 34806794Intron 9
PHEX_1123c.1080-?_1404+?delDeletion (Exons 10-12)PHEXDeletionDeletion<334141703Exon 10 - 12
PHEX_1036c.1087G>Cp.Ala363ProPHEXSNVMissensePathogenic<3Exon 10
PHEX_0331c.1088C>Tp.Ala363ValPHEXSNVMissense3-5Lower Limb Deformities19513579, 34806794Exon 10
PHEX_0332c.1092C>Ap.Asn364LysPHEXSNVMissense< 3Other Musculoskeleta....19219621, 34806794Exon 10
PHEX_0333c.1103G>Ap.Trp368*PHEXSNVNonsensePathogenic6-10Reduced Serum Phosphate31903094, 15057978, 16636593, 22695891, 34806794Exon 10
PHEX_1037c.1104_1106dupGAGp.Arg369dupPHEXSmall insertionInsertionLikely Pathogenic<3abnormal bone develo....32253725Exon 10
PHEX_0334c.1104G>Ap.Trp368*PHEXSNVNonsensePathogenic< 334806794Exon 10
PHEX_0335c.1105A>Tp.Arg369*PHEXSNVNonsensePathogenic3-5Other Musculoskeleta....24926462, 23079138, 21902834, 34806794Exon 10
PHEX_0336c.1106_1108dupp.Arg369dupPHEXSmall duplicationInsertionPathogenic< 334806794Exon 10
PHEX_0337c.1109T>Gp.Met370ArgPHEXSNVMissenseLikely Pathogenic6-10Gait Abnormalities, ....18625346, 34806794Exon 10
PHEX_0338c.1110_1111insAAGp.Met370_Val371insLysPHEXSmall insertionInsertion< 3Other Musculoskeleta....19219621, 34806794Exon 10
PHEX_0339c.1116T>Ap.Tyr372*PHEXSNVNonsensePathogenic< 334806794Exon 10
PHEX_0340c.1118C>Tp.Ser373PhePHEXSNVMissense< 321050253, 34806794Exon 10
PHEX_0341c.1133T>Cp.Leu378ProPHEXSNVMissenseUncertain Significance< 3Gait Abnormalities, ....11502829, 23079138, 16636593, 24926462, 34806794Exon 10
PHEX_0342c.1134delp.Ser379Alafs*14PHEXSmall deletionFrameshift< 316636593, 9199930, 34806794Exon 10
PHEX_0343c.1137_1149delp.Arg380Ilefs*9PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 10
PHEX_1038c.1138delp.Arg380Glyfs*13PHEXSmall deletionFrameshiftPathogenic<3Gait abnormalities, ....Exon 10
PHEX_0344c.1142G>Ap.Arg381HisPHEXSNVMissenseUncertain Significance< 334806794Exon 10
PHEX_0345c.1146delp.Gln383Serfs*10PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 10
PHEX_0346c.1147C>Tp.Gln383*PHEXSNVNonsensePathogenic< 334806794Exon 10
PHEX_0347c.1152dupp.Arg385*PHEXSmall insertionFrameshift< 323813354, 23813354, 34806794Exon 10
PHEX_0348c.1152T>Gp.Tyr384*PHEXSNVNonsensePathogenic3-5Other Musculoskeleta....21994957, 19219621, 34806794Exon 10
PHEX_0349c.1157G>Ap.Trp386*PHEXSNVNonsensePathogenic< 3bowed or bent legs, ....32329911, 34806794Exon 10
PHEX_0351c.?p.Trp386*PHEXSNVNonsense< 322101457, 34806794Exon 10
PHEX_0350c.1158G>Ap.Trp386*PHEXSNVNonsensePathogenic3-5Gait Abnormalities, ....25894638, 16636593, 29460029, 34806794Exon 10
PHEX_0352c.1164dupp.Phe389Ilefs*23PHEXSmall insertionFrameshift< 321050253, 34806794Exon 10
PHEX_0353c.1166delp.Phe389Serfs*4PHEXSmall deletionFrameshift3-5Lower Limb Deformities16636593, 11502829, 34806794Exon 10
PHEX_1039c.1167_1173+17delp.?PHEXSmall deletionSplice donorPathogenic<3abnormal bone develo....32253725Exon 10, Intron 10
PHEX_1040c.1168delp.Ser390Glnfs*3PHEXSmall deletionFrameshiftPathogenic<3Lower limb deformities, Short StatureExon 10
PHEX_0355c.1173+1delSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 10
PHEX_0356c.1173+1G>Ap.?PHEXSplicingSplice donorPathogenic3-5Gait Abnormalities, Lower Limb Deformities24926462, 23079138, 21902834, 34141703, 34806794Intron 10
PHEX_0354c.1173+1G>Cp.?PHEXSplicingSplice donor< 325086671Intron 10
PHEX_0359c.1173+1G>Tp.?PHEXSplicingSplice donorPathogenic3-5Gait abnormalities, ....22101457, 29460029, 34806794Intron 10
PHEX_0357c.1173+2T>CSplice donorPHEXSplicingSplice donorPathogenic11-20Tooth Abscesses and/....34806794Intron 10
PHEX_0358c.1173+5G>AIntronicPHEXSplicingIntronicLikely Pathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Intron 10
PHEX_1041c.1174-937T>Gp.?PHEXSplicingIntronicBenign<321644943Intron 10
PHEX_1042c.1174-3C>Gp.?PHEXSplicingIntronicLikely Pathogenic<334141703Intron 10
PHEX_0853c.1174-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic3-534141703, 34806794Intron 10
PHEX_0362c.1174-1G>Ap.?PHEXSplicingSplice acceptorPathogenic6-10Short Stature, Tooth....24836714, 18162710, 28506344, 30599486, 27840894, 34141703, 34806794Intron 10
PHEX_0360c.1174-?_1302+?delDeletion (Exon 11)PHEXCNVDeletionPathogenic< 334806794Intron 10
PHEX_0363c.1180C>Tp.Gln394*PHEXSNVNonsensePathogenic3-5Lower Limb Deformities19513579, 15057978, 34806794Exon 11
PHEX_0364c.1183G>Cp.Gly395ArgPHEXSNVMissense< 3Tooth Abscesses and/....24836714, 34806794Exon 11
PHEX_0365c.1185delp.Thr396Profs*12PHEXSmall deletionFrameshiftPathogenic3-5Other Musculoskeleta....15057978, 19219621, 34806794Exon 11
PHEX_0366c.1204C>Tp.Gln402*PHEXSNVNonsensePathogenic< 3abnormal bone development33639975, 34806794Exon 11
PHEX_0368c.1206A>Gp.Gln402GlnPHEXSNVMissense< 3Other Musculoskeleta....19219621, 34806794Exon 11
PHEX_0367c.1206delp.Gln402Hisfs*6PHEXSmall deletionFrameshift< 3Short Stature, Lower Limb Deformities29505567, 34806794Exon 11
PHEX_0369c.1208G>Ap.Trp403*PHEXSNVNonsensePathogenic6-10Other Musculoskeleta....26377240, 19219621, 33666701, 34806794Exon 11
PHEX_0370c.1209G>Ap.Trp403*PHEXSNVNonsensePathogenic11-20Short Stature, Bone ....30920082, 15057978, 9097956, 16636593, 34806794Exon 11
PHEX_0371c.1210delp.Asp404Thrfs*4PHEXSmall deletionFrameshiftPathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 11
PHEX_0372c.1211_1215delinsTTTACATp.Asp404Valfs*5PHEXSmall insertionFrameshift< 326107949, 34806794Exon 11
PHEX_1132c.?p.Cys406SerPHEXMissense<325042154Exon 11
PHEX_0376c.1216T>Ap.Cys406SerPHEXSNVMissense< 330682568, 24756041Exon 11
PHEX_0373c.1216T>Cp.Cys406ArgPHEXSNVMissensePathogenic< 3Short Stature, Bone ....29505567, 24756041, 34806794Exon 11
PHEX_0374c.1217G>Ap.Cys406TyrPHEXSNVMissense< 3Lower Limb Deformities24926462, 23079138, 29505567, 34806794Exon 11
PHEX_0375c.1217G>Tp.Cys406PhePHEXSNVMissense< 3Short Stature, Lower Limb Deformities29460029, 29505567, 34806794Exon 11
PHEX_0854c.1218T>Ap.Cys406*PHEXSNVNonsensePathogenic< 3Reduced Serum Phosph....34806794Exon 11
PHEX_1043c.1220T>Gp.Val407GlyPHEXSNVMissenseUncertain Significance<3Gait abnormalities, ....Exon 11
PHEX_0377c.1224delp.Phe409Leufs*15PHEXSmall deletionFrameshiftPathogenic< 3Fractures/Pseudo-Fra....34141703, 34806794Exon 11
PHEX_1044c.1234delp.Ser412Valfs*12PHEXSmall deletionFrameshiftPathogenic6-10abnormal bone develo....34141703, 27840894Exon 11
PHEX_0378c.1237G>Cp.Ala413ProPHEXSNVMissenseLikely Pathogenic6-1034806794Exon 11
PHEX_0379c.1251delp.Val418Leufs*6PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 11
PHEX_0380c.1263delp.Met421Ilefs*3PHEXSmall deletionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 11
PHEX_0381c.1269delp.Asp424Metfs*11PHEXSmall deletionFrameshift< 3Other Musculoskeletal Abnormalities10439971, 16636593, 34806794Exon 11
PHEX_0382c.1270_1271delp.Asp424Cysfs*7PHEXSmall deletionFrameshift< 315057978, 34806794Exon 11
PHEX_1133c.?p.Tyr426*PHEXNonsensePathogenic3-5bowed or bent legs, dental abscesses11502829Exon 11
PHEX_0383c.1278C>Gp.Tyr426*PHEXSNVNonsense6-1016636593, 34806794Exon 11
PHEX_0384c.1282C>Tp.Gln428*PHEXSNVNonsensePathogenic< 3Bone and/or joint pa....16636593, 15057978, 14564066, 34806794Exon 11
PHEX_0385c.1294A>Tp.Lys432*PHEXSNVNonsense6-10Short Stature, Lower....23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794Exon 11
PHEX_0394c.1301-?_1899+?delDeletion (Exons 12-18)PHEXCNVDeletionUncertain Significance< 334806794Exons 12-18
PHEX_0386c.1302+1G>Ap.?PHEXSplicingSplice donorPathogenic6-10muscle weakness, bow....26377240, 32329911, 9097956, 32253725, 34806794Intron 11
PHEX_0388c.1302+1G>CSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 11
PHEX_0387c.1302+1G>Tp.?PHEXSplicingSplice donorLikely Pathogenic< 39097956, 16636593, 34806794Intron 11
PHEX_0855c.1302+4_1302+10delIntronicPHEXSmall deletionSplice donorLikely Pathogenic3-5Lower limb deformities34806794Intron 11
PHEX_1045c.1303-3589C>Gp.?PHEXSplicingIntronicUncertain Significance<316183656Intron 11
PHEX_1046c.1303-1G>Cp.?PHEXSplicingSplice acceptorPathogenic<334141703Intron 11
PHEX_0396c.1303-1G>Tp.?PHEXSplicingSplice acceptorPathogenic3-5Tooth Abscesses and/....26051471, 34806794Intron 11
PHEX_0390c.?Intron 12 - Exon 13PHEXCNVUnknownLikely Pathogenic< 334806794Intron 12 - Exon 13
PHEX_1134c.?Partial deletion (Exon 12)PHEXPathogenic<3Reduced_TmP/GFR_(Exon 12
PHEX_0392c.1303-?_1404+?delDeletion (Exon 12)PHEXCNVDeletionPathogenic6-10Fractures/Pseudo-Fra....16636593, 32329911, 9199930, 32253725, 33666701, 34141703, 34806794Intron 11
PHEX_0393c.1303-?_1404+?dupGain (Exon 12)PHEXCNVDuplicationPathogenic3-5Lower limb deformities, Reduced Serum Phosphate34806794Intron 11
PHEX_0395c.1303-?_1482+?dupGain (Exons 12-13)PHEXCNVDuplicationUncertain Significance< 3Lower Limb Deformities34806794Intron 11
PHEX_0389c.1303-?_2070+?dupGain (Exons 12-20)PHEXCNVDuplicationUncertain Significance< 334806794Intron 11
PHEX_1124c.1303-?_1645+?dupGain (Exons 12-15)PHEXLikely Pathogenic<3Gait abnormalities, ....Exon 12 - 15
PHEX_0398c.1304T>Gp.Met435ArgPHEXSplicingIntronicUncertain Significance3-5Lower Limb Deformiti....34806794Exon 12
PHEX_0399c.1305_1306insCp.Glu436Argfs*5PHEXSmall insertionFrameshift< 321050253, 34806794Exon 12
PHEX_0401c.1309dupp.Glu437Glyfs*4PHEXSmall duplicationFrameshiftPathogenic3-5Lower limb deformities, Reduced Serum Phosphate34806794Exon 12
PHEX_0402c.1309G>Tp.Glu437*PHEXSNVNonsensePathogenic< 3Gait Abnormalities, ....34806794Exon 12
PHEX_0404c.1313delp.Leu438Trpfs*13PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 12
PHEX_0403c.1313T>Cp.Leu438SerPHEXSNVMissenseLikely Pathogenic3-534806794Exon 12
PHEX_0405c.1313T>Gp.Leu438TrpPHEXSNVMissense< 322695891, 34806794Exon 12
PHEX_0406c.1319_1321delp.Glu440delPHEXSmall deletionDeletion< 3Other Musculoskeleta....19219621, 34806794Exon 12
PHEX_0407c.1324G>Tp.Val442PhePHEXSNVMissense3-5radiological signs o....33639975, 15057978, 34806794Exon 12
PHEX_0409c.1328G>Ap.Arg443HisPHEXSNVMissenseUncertain Significance< 334806794Exon 12
PHEX_0408c.1328G>Cp.Arg443ProPHEXSNVMissenseUncertain Significance< 334806794Exon 12
PHEX_0410c.1331G>Ap.Trp444*PHEXSNVNonsense< 3dental caries32329911, 22695891, 34806794Exon 12
PHEX_0412c.1332_1333insAACp.Trp444_Ala445insAsnPHEXSmall insertionInsertion< 311004247, 16636593, 34806794Exon 12
PHEX_0411c.1332G>Ap.Trp444*PHEXSNVNonsensePathogenic6-10Bone and/or Joint Pa....24836714, 29901142, 34141703, 34806794Exon 12
PHEX_1047c.1333delp.Ala445Profs*6PHEXSmall deletionFrameshiftPathogenic<3abnormal bone development, bowed or bent leg32253725Exon 12
PHEX_0856c.1334C>Ap.Ala445AspPHEXSNVMissenseLikely Pathogenic< 3Fractures/pseudo-fractures, Lower limb deformities34806794Exon 12
PHEX_0413c.1335delp.Phe446Leufs*5PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 12
PHEX_0857c.1337delinsAATAAp.Phe446*PHEXSmall insertionNonsense< 329707405, 34806794Exon 12
PHEX_0414c.1349T>Cp.Leu450ProPHEXSNVMissense< 321050253, 34806794Exon 12
PHEX_0415c.1351G>Tp.Glu451*PHEXSNVNonsense< 3Other Musculoskeletal Abnormalities10439971, 23079138, 16636593, 24926462, 34806794Exon 12
PHEX_0416c.1357_1360delp.Glu453Metfs*29PHEXSmall deletionFrameshift< 329460029, 34806794Exon 12
PHEX_0417c.1363G>Tp.Glu455*PHEXSNVNonsensePathogenic6-10Tooth Abscesses and/....10439971, 23079138, 16636593, 24926462, 22261628, 18162710, 30599486, 34806794Exon 12
PHEX_0418c.1366T>Ap.Trp456ArgPHEXSNVMissense< 329460029, 34806794Exon 12
PHEX_1048c.1366T>Gp.Trp456GlyPHEXSNVMissenseLikely Pathogenic<333666701Exon 12
PHEX_0422c.?p.Trp456CysPHEXSNVMissense6-10short stature, abnormal bone development10439971, 22101457, 12001226, 34806794Exon 12
PHEX_0419c.1367G>Ap.Trp456*PHEXSNVNonsensePathogenic3-5abnormal bone develo....9199930, 16636593, 30607568, 33639975, 32253725, 34806794Exon 12
PHEX_0420c.1368G>Ap.Trp456*PHEXSNVNonsensePathogenic3-5Gait Abnormalities, ....22577109, 34806794Exon 12
PHEX_0421c.1368G>Cp.Trp456CysPHEXSNVMissensePathogenic3-529460029, 34806794Exon 12
PHEX_0858c.1382C>Ap.Thr461LysPHEXSNVMissenseLikely Pathogenic< 3Lower limb deformiti....34806794Exon 12
PHEX_0423c.1382C>Gp.Thr461ArgPHEXSNVMissenseLikely Pathogenic3-5Lower Limb Deformities34806794Exon 12
PHEX_0424c.1387delp.Arg463Glyfs*20PHEXSmall deletionFrameshiftPathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 12
PHEX_0859c.1387dupp.Arg463Lysfs*23PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 12
PHEX_0425c.1394C>Ap.Ala465AspPHEXSNVMissenseUncertain Significance< 334806794Exon 12
PHEX_0860c.1398dupp.Glu467Argfs*19PHEXSmall duplicationFrameshiftPathogenic< 3Gait abnormalities, ....34806794Exon 12
PHEX_0426c.1399G>Tp.Glu467*PHEXSNVNonsensePathogenic< 3Gait Abnormalities, Lower Limb Deformities16636593, 34141703, 34806794Exon 12
PHEX_0427c.1400_1404delp.Glu467Glyfs*17PHEXSmall deletionFrameshiftPathogenic< 316636593, 15057978, 34806794Exon 12
PHEX_0428c.1402A>Gp.Lys468GluPHEXSplicingMissenseUncertain Significance< 3bone pain, bowed or bent legs32329911, 34806794Exon 12
PHEX_0429c.1403A>Cp.Lys468ThrPHEXSplicingIntronicPathogenic< 3Reduced Serum Phosphate34806794Exon 12
PHEX_0430c.1403delp.Lys468Argfs*15PHEXSmall deletionFrameshift< 3Other Musculoskeleta....16636593, 19219621, 34806794Exon 12
PHEX_0432c.1404G>Cp.Lys468AsnPHEXSplicingMissenseLikely Pathogenic3-5Lower Limb Deformities33358363, 33639975, 34806794Exon 12
PHEX_1110c.1404G>Tp.Lys468AsnPHEXSNVMissenseLikely Pathogenic<3abnormal bone develo....32253725Exon 12
PHEX_0433c.1404+1delp.?PHEXSmall deletionSplice donor< 3Short Stature, Lower Limb Deformities29505567, 34806794Intron 12
PHEX_0431c.1404+2_1404+6delp.?PHEXSplicingSplice donorPathogenic< 3Fractures/Pseudo-Fra....22695891, 34806794Intron 12
PHEX_1049c.1404+9251G>Ap.?PHEXSplicingIntronicBenign<321326311Intron 12
PHEX_1050c.1405-6860C>Tp.?PHEXSplicingIntronicBenign<320018918Intron 12
PHEX_0863Partial Deletion(Exon 13)PHEXCNVDeletionLikely Pathogenic< 3Gait abnormalities, ....34806794Exon 13
PHEX_1135Complex Rearrangement/Intron 12 - Exon 13Intron 12 - Exon 13PHEXLikely Pathogenic<3Short StatureIntron 12 - Exon 13
PHEX_1136c.?Partial deletion (Exon 13)PHEXLikely Pathogenic<3Gait abnormalities, ....Exon 13
PHEX_0862c.1405_?delp.Ala469_?delPHEXSmall deletionDeletion< 333639975, 34806794Exon 13
PHEX_0861c.1405-?_1482+?delDeletion (Exon 13)PHEXCNVDeletionLikely Pathogenic< 3Gait abnormalities, ....34806794Intron 12
PHEX_0439c.1406_1488delPHEXSmall deletionFrameshift< 316636593, 34806794Exon 13
PHEX_0440c.1405-?_1645+?delDeletion (Exons 13-15)PHEXCNVDeletion< 324926462, 23079138, 21902834, 34806794Exon 13 - 15
PHEX_0437c.1405-?_1645+?dupGain (Exons 13-15)PHEXCNVDuplicationPathogenic30+Fractures/Pseudo-Fra....34806794Intron 12
PHEX_0434c.1405-?_2070+?dupGain (Exons 13-20)PHEXCNVDuplicationLikely Pathogenic3-5Lower Limb Deformiti....34806794Intron 12
PHEX_0436c.1405-?_*3357+?delDeletion (Exons 13-22)PHEXCNVDeletionPathogenic6-10Gait abnormalities, ....24926462, 21902834, 23079138, 34806794Intron 12
PHEX_1051c.1406C>Ap.Ala469GluPHEXSNVMissenseLikely Pathogenic3-533666701Exon 13
PHEX_0442c.1412_1417delp.Ala471_Leu473delinsValPHEXSmall deletionDeletionUncertain Significance< 3Tooth Abscesses and/....34806794Exon 13
PHEX_1052c.1415T>Ap.Val472AspPHEXSNVMissenseLikely Pathogenic<334141703Exon 13
PHEX_1053c.1426G>Ap.Val476IlePHEXSNVMissenseUncertain Significance<3Bone and/or joint pa....Exon 13
PHEX_0443c.1434T>Ap.Tyr478*PHEXSNVNonsensePathogenic3-5Other Musculoskeleta....16636593, 9097956, 19219621, 34806794Exon 13
PHEX_0864c.1446_1452delp.Ile482Metfs*30PHEXSmall deletionFrameshiftPathogenic< 3Gait abnormalities, ....34806794Exon 13
PHEX_1054c.1461delp.His487Glnfs*27PHEXSmall deletionFrameshiftPathogenic<3short stature, pain,....34141703, 33796255Exon 13
PHEX_0444c.1471delp.Asp491Thrfs*23PHEXSmall deletionFrameshift< 3bowed or bent legs, ....27884786, 19219621, 34806794Exon 13
PHEX_0445c.1474delp.Leu492Serfs*22PHEXSmall deletionFrameshift< 329460029, 34806794Exon 13
PHEX_0453c.1482+1G>ASplice donorPHEXSplicingSplice donorPathogenic3-5Gait Abnormalities, Lower Limb Deformities34806794Intron 13
PHEX_0451c.1482+1G>Cp.?PHEXSplicingSplice donorPathogenic3-5Lower Limb Deformities9768674, 21050253, 24926462, 16636593, 31102713, 34141703, 34806794Intron 13
PHEX_0447c.1482+1G>Tp.?PHEXSplicingSplice donor3-5Lower Limb Deformities23079138, 11502829, 34806794Intron 13
PHEX_0449c.1482+2T>GSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 13
PHEX_0448c.1482+3_1482+4delinsTp.?PHEXDeletion/InsertionIntronic< 319219621, 34806794Intron 13
PHEX_0450c.1482+3A>CIntronicPHEXSplicingIntronicPathogenic6-10Lower Limb Deformiti....34806794Intron 13
PHEX_0452c.1482+4delp.?PHEXSplicingIntronic3-5Short Stature, Other Musculoskeletal Abnormalities24926462, 33639975, 21902834, 34806794Intron 13
PHEX_0446c.1482+5G>Cp.?PHEXSplicingIntronicPathogenic3-5Fractures/Pseudo-Fra....31102713, 16636593, 29460029, 34275936, 34806794Intron 13
PHEX_1055c.1483-1012C>Tp.?PHEXSplicingIntronicBenign<328900292Intron 13
PHEX_1056c.1483-804T>Ap.?PHEXSplicingIntronicPathogenic<3ossified posterior l....33953992Intron 13
PHEX_0458c.1483-2A>Gp.?PHEXSplicingSplice acceptor< 3Lower Limb Deformities24926462, 23079138, 25031893, 34806794Intron 13
PHEX_0454c.1483-1G>Ap.?PHEXSplicingSplice acceptorPathogenic6-10bowed or bent legs, ....22577109, 33295632, 34806794Intron 13
PHEX_0457c.1483-1G>Cp.?PHEXSplicingSplice acceptorPathogenic11-20Short Stature, genu ....31567381, 27840894, 34218635, 34141703, 34806794Intron 13
PHEX_0455c.1483-?_1586+?delDeletion (Exon 14)PHEXCNVDeletionPathogenic< 333295632, 34806794Exon 14
PHEX_0456c.1483-?_1645+?delDeletion (Exons 14-15)PHEXCNVDeletionPathogenic< 334806794Intron 13
PHEX_0460c.?p.Lys496*PHEXSNVNonsense3-523700148, 29381780, 22573557, 22006791, 28005411, 34806794Exon 14
PHEX_0461c.1491_1509delp.Phe497Leufs*11PHEXSmall deletionFrameshift< 326377240, 34806794Exon 14
PHEX_0462c.1503_1504insGACTp.Tyr502Aspfs*17PHEXSmall insertionFrameshift< 3abnormal bone development24926462, 23079138, 16636593, 10439971, 34806794Exon 14
PHEX_1057c.1506C>Gp.Tyr502*PHEXSNVNonsensePathogenic<333666701Exon 14
PHEX_0463c.1519C>Gp.Leu507ValPHEXSNVMissenseUncertain Significance< 3Fractures/Pseudo-Fra....34806794Exon 14
PHEX_0464c.1520T>Cp.Leu507ProPHEXSNVMissenseUncertain Significance3-534806794Exon 14
PHEX_0465c.1522C>Tp.Gln508*PHEXSNVNonsensePathogenic3-5Other Musculoskeleta....21050253, 19219621, 22695891, 34806794Exon 14
PHEX_0466c.1523_1537delp.Gln508_Tyr512delPHEXSmall deletionDeletion< 315057978, 34806794Exon 14
PHEX_1111c.1525delAp.Thr509Leufs*5PHEXSmall deletionFrameshiftPathogenic3-5Exon 14
PHEX_0468c.1529G>Cp.Arg510ProPHEXSNVMissense< 3Short Stature, Other Musculoskeletal Abnormalities23079138, 15057978, 16636593, 24926462, 21902834, 34806794Exon 14
PHEX_0469c.1531A>Tp.Lys511*PHEXSNVNonsensePathogenic< 334806794Exon 14
PHEX_0467c.1532delp.Lys511Serfs*3PHEXSmall deletionFrameshiftPathogenic11-20Tooth Abscesses and/....18625346, 11502829, 16636593, 34806794Exon 14
PHEX_0471c.1535delp.Tyr512Phefs*2PHEXSmall deletionFrameshiftPathogenic< 3Lower Limb Deformities34806794Exon 14
PHEX_0865c.1540G>Cp.Ala514ProPHEXSNVMissense< 332329911, 34806794Exon 14
PHEX_0867c.1543_1544delp.Gln515Valfs*2PHEXSmall deletionFrameshiftPathogenic3-533639975, 34806794Exon 14
PHEX_0472c.1543C>Tp.Gln515*PHEXSNVNonsensePathogenic6-10Reduced_TmP/GFR_(26377240, 23079138, 24926462, 21902834, 31927522, 34806794Exon 14
PHEX_0866c.1543delp.Gln515SerfsTer7PHEXSmall deletionFrameshift< 332329911, 34806794Exon 14
PHEX_0473c.1553delp.Phe518Serfs*4PHEXSmall deletionFrameshift3-5Short Stature, Heari....25060345, 34806794Exon 14
PHEX_0474c.1560delp.Trp520Cysfs*2PHEXSmall deletionFrameshift< 323079138, 16636593, 24926462, 9199930, 34806794Exon 14
PHEX_0868c.1566_1570delp.Arg522Serfs*58PHEXSmall deletionFrameshift< 332619592, 34806794Exon 14
PHEX_0475c.1572dupp.Val525Argfs*57PHEXSmall insertionFrameshift< 316636593, 9199930, 34806794Exon 14
PHEX_0484c.1586_1586+1delp.?PHEXSmall deletionSplice donorPathogenic11-20stunted growth, pect....19429806, 10439971, 24229582, 19219621, 27840894, 34141703, 34806794, 23079138, 30599486, 24926462Exon 14 - 15, Intron 14
PHEX_1058c.1585_1586delp.Glu529Valfs*52PHEXSmall deletionFrameshiftPathogenic<3Tooth abscesses and/....Exon 14
PHEX_0479c.1586+1G>Ap.?PHEXSplicingSplice donorPathogenic3-5Other Musculoskeleta....28506344, 26051471, 31102713, 29505567, 34806794Intron 14
PHEX_0481c.1586+1G>CSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 14
PHEX_0477c.1586+1G>TSplice donorPHEXSplicingSplice donorPathogenic< 3abnormal bone develo....32253725, 34806794Intron 14
PHEX_0483c.1586+2T>ASplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 14
PHEX_0482c.1586+2T>Gp.?PHEXSplicingSplice donor< 3Short Stature, Lower Limb Deformities29505567, 34806794Intron 14
PHEX_0480c.1586+3_1586+6delp.Glu529Valfs*52PHEXSmall deletionIntronic, FrameshiftPathogenic11-20Other Musculoskeleta....10439971, 32329911, 11502829, 9106524, 22695891, 24926462, 19219621, 18625346, 34806794Intron 14, Exon 14 - 15
PHEX_0870c.1586+3G>TIntronicPHEXSplicingSplice donorLikely Pathogenic< 3Reduced Serum Phosphate34141703, 34806794Intron 14
PHEX_0869c.1586+5G>AIntronicPHEXSplicingIntronicPathogenic< 3Gait abnormalities, Lower limb deformities34806794Intron 14
PHEX_0871c.1586+6T>AIntronicPHEXSplicingIntronic3-521885902, 34806794Intron 14
PHEX_0478c.1586+6T>Cp.?PHEXSplicingIntronic< 318625346, 31102713, 20157195, 34806794Intron 14
PHEX_1059c.1587-46C>Tp.?PHEXSplicingIntronicUncertain Significance<324857004Intron 14
PHEX_0488c.1587-1G>ASplice acceptorPHEXSplicingSplice acceptorPathogenic6-10Fractures/Pseudo-Fra....34806794Intron 14
PHEX_0489c.1587-1G>Cp.?PHEXSplicingSplice acceptor6-1028506344, 31903094, 22695891, 34806794Intron 14
PHEX_0872c.1589G>Ap.Trp530*PHEXSNVNonsensePathogenic< 334141703, 34806794Exon 15
PHEX_0487Exon 15PHEXCNVDeletionLikely Pathogenic< 334806794Exon 15
PHEX_1137c.?Partial deletion (Exon 15)PHEXLikely Pathogenic<3Exon 15
PHEX_0486c.1587-?_1645+?delDeletion (Exon 15)PHEXCNVDeletionPathogenic3-5Lower Limb Deformiti....32253725, 34806794Intron 14
PHEX_0485c.1587-?_2070+?delDeletion (Exons 15-20)PHEXCNVDeletionPathogenic3-534141703, 34806794Intron 14
PHEX_1125c.1587-?_*3357+?delDeletion (Exons 15-22)PHEXDeletion<334141703Exon 15 - 22
PHEX_1060c.1590delp.Trp530Cysfs*40PHEXSmall deletionFrameshiftPathogenic<3abnormal bone development, bowed or bent leg32253725Exon 15
PHEX_0491c.1590G>Ap.Trp530*PHEXSNVNonsensePathogenic< 39768674, 16636593, 34806794Exon 15
PHEX_0490c.1590G>Cp.Trp530CysPHEXSNVMissense< 3Other Musculoskeletal Abnormalities10439971, 16636593, 34806794Exon 15
PHEX_0492c.1593dupp.Thr532Tyrfs*50PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 15
PHEX_0494c.1600C>Ap.Pro534ThrPHEXSNVMissensePathogenic3-5Lower limb deformiti....22577109, 28383812, 34806794Exon 15
PHEX_0493c.1600C>Tp.Pro534SerPHEXSNVMissense3-5Lower Limb Deformities28383812, 29460029, 34806794Exon 15
PHEX_0495c.1601C>Tp.Pro534LeuPHEXSNVMissensePathogenic30+Other Musculoskeleta....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<3stunted growth, abno....33888711Exon 15
PHEX_0496c.1605_1607delp.Thr536delPHEXSmall deletionDeletion< 3Short Stature, Lower Limb Deformities19513579, 34806794Exon 15
PHEX_1062c.1621T>Gp.Tyr541AspPHEXSNVMissenseLikely Pathogenic<3Exon 15
PHEX_0498c.1639C>Tp.Gln547*PHEXSNVNonsense< 3Short Stature, Other Musculoskeletal Abnormalities24926462, 23079138, 21902834, 34806794Exon 15
PHEX_0873c.1640A>Cp.Gln547ProPHEXSNVMissenseLikely Pathogenic< 3Lower limb deformities, Reduced Serum Phosphate34806794Exon 15
PHEX_0874c.1643T>Cp.Ile548ThrPHEXSNVMissense6-1025237965, 34806794Exon 15
PHEX_0505c.1645C>Tp.Arg549*PHEXSNVNonsensePathogenic30+Other Musculoskeleta....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 Musculoskeleta....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< 3Gait abnormalities, ....34806794Intron 15
PHEX_0497c.1645+2T>CSplice donorPHEXSplicingSplice donor< 39199930, 34806794Intron 15
PHEX_0500c.1645+2T>GSplice donorPHEXSplicingSplice donorPathogenic< 3Gait Abnormalities, ....34806794Intron 15
PHEX_1063c.1645+4A>CIntronicPHEXSplicingSplice donorUncertain Significance<3Intron 15
PHEX_0504c.1645+4A>Gp.?PHEXSplicingIntronic< 330682568, 34806794Intron 15
PHEX_0501c.1645+5G>Ap.?PHEXSplicingIntronic, Frameshift6-10Tooth Abscesses and/....11502829, 16636593, 31102713, 33639975, 19219621, 34141703, 34806794Intron 15
PHEX_0502c.1645+6T>Cp.?PHEXSplicingIntronic< 318625346, 31102713, 34806794Intron 15
PHEX_1064c.1646-1493C>Ap.?PHEXSplicingIntronicBenign<320672378Intron 15
PHEX_0875c.1646-46T>Cp.?PHEXSplicingIntronic3-5bowed or bent legs, ....33295632, 34806794Intron 15
PHEX_0515c.1646-2A>Gp.?PHEXSplicingSplice acceptorPathogenic3-5Gait abnormalities, ....16261449, 34806794Intron 15
PHEX_0510c.1646-2A>Tp.?PHEXSplicingSplice acceptor3-5Lower Limb Deformities28506344, 24836714, 34141703, 34806794Intron 15
PHEX_0519c.1646-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic< 334806794Intron 15
PHEX_0517c.1646_?delp.Arg549_?delPHEXSmall deletionDeletion3-5radiological signs o....30607568, 33639975, 34806794Exon 16
PHEX_0521c.1646-?_1768+?delDeletion (Exons 16-17)PHEXSmall deletionDeletion3-59768674, 16636593, 34806794Exon 16 - 17
PHEX_0518c.1646G>Cp.Arg549ProPHEXSNVMissensePathogenic6-10Other Musculoskeleta....22577109, 25839938, 18625346, 34806794Exon 15 - 16
PHEX_1126c.1646-?_1899+?delDeletion (Exons 16-18)PHEXDeletion<332253725Exon 16 - 18
PHEX_0508c.1646-?_1700+?delDeletion (Exon 16)PHEXCNVDeletionPathogenic3-529460029, 31474501, 34141703, 34806794Exon 16
PHEX_0507c.1646-?_2070+?delDeletion (Exons 16-20)PHEXCNVDeletionPathogenic3-534806794Intron 15
PHEX_0516c.1646-?_2070+?dupGain (Exons 16-20)PHEXCNVDuplication< 322695891, 34806794Exon 16 - 20
PHEX_0512c.1646-?_*3357+?delDeletion (Exons 16-22)PHEXCNVDeletionPathogenic3-5nephrocalcinosis, hy....24926462, 29460029, 31474501, 22695891, 23079138, 21902834, 34141703, 34806794Exon 16 - 22
PHEX_1065c.1650_1652delTCCinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTTp.Phe550Leufs*45PHEXDeletion/InsertionFrameshiftLikely Pathogenic<3abnormal bone develo....32253725Exon 16
PHEX_0523c.1654G>Ap.Ala552ThrPHEXSNVMissense< 321902834, 34806794Exon 16
PHEX_0524c.1657G>Tp.Gly553*PHEXSNVNonsense< 326377240, 34806794Exon 16
PHEX_0525c.1658G>Ap.Gly553GluPHEXSNVMissense< 3bowed or bent legs, dental caries21050253, 32329911, 34806794Exon 16
PHEX_0526c.1660G>Tp.Glu554*PHEXSNVNonsensePathogenic< 334806794Exon 16
PHEX_0527c.1664T>Cp.Leu555ProPHEXSNVMissensePathogenic11-20Lower Limb Deformities9768646, 16636593, 19219621, 34806794Exon 16
PHEX_0528c.1666C>Tp.Gln556*PHEXSNVNonsensePathogenic3-5abnormal bone develo....31658436, 32253725, 34806794Exon 16
PHEX_0529c.1670delp.Lys557Serfs*13PHEXSmall deletionFrameshift< 329460029, 34806794Exon 16
PHEX_0530c.1672C>Gp.Pro558AlaPHEXSNVMissense3-518046499, 23813354, 21293852, 24857004, 34806794Exon 16
PHEX_0532c.1681_1682insAlup.Phe560fsPHEXSmall insertionFrameshiftPathogenic3-534806794Exon 16
PHEX_1066c.1682G>Ap.Trp561*PHEXSNVNonsensePathogenic<3Exon 16
PHEX_0533c.1683G>Ap.Trp561*PHEXSNVNonsense< 3Other Musculoskeleta....19219621, 34806794Exon 16
PHEX_0534c.1684G>Tp.Gly562*PHEXSNVNonsense< 315057978, 34806794Exon 16
PHEX_0536c.1685delp.Gly562Glufs*8PHEXSmall deletionFrameshiftPathogenic< 318625346, 34806794Exon 16
PHEX_0535c.1685dupp.Thr563Asnfs*19PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 16
PHEX_0537c.1692delp.Glu564Aspfs*6PHEXSmall deletionFrameshift6-10Short Stature, Lower Limb Deformities31537998, 34806794Exon 16
PHEX_0522c.1694delp.Tyr565Phefs*5PHEXSmall deletionFrameshift3-5Lower Limb Deformities24836714, 34141703, 34806794Exon 16
PHEX_0538c.1695T>Ap.Tyr565*PHEXSNVNonsensePathogenic< 334806794Exon 16
PHEX_0539c.1699C>Tp.Arg567*PHEXSNVNonsensePathogenic30+Other Musculoskeleta....16303832, 32329911, 29460029, 21994957, 21293852, 29901142, 21050253, 30599486, 25894638, 22261628, 18162710, 18625346, 22101457, 24229582, 33639975, 19219621, 24857004, 34141703, 34806794Exons 16-17
PHEX_0541c.1700G>APHEXSplicingUnknown< 39097956, 34806794Exon 16
PHEX_0544c.1700G>Cp.Arg567ProPHEXSNVMissensePathogenic< 3Reduced Serum Phosphate21994957, 16636593, 34806794Exons 16-17
PHEX_0545c.1700+1G>Ap.?PHEXSplicingSplice donorPathogenic6-10Other Musculoskeleta....19219621, 34806794Intron 16
PHEX_0543c.1700+1G>CSplice donorPHEXSplicingSplice donorPathogenic< 3Gait Abnormalities, ....34806794Intron 16
PHEX_0542c.1700+1G>TSplice donorPHEXSplicingSplice donorPathogenic6-10Fractures/Pseudo-Fra....34806794Intron 16
PHEX_0877c.1700+2T>Cp.?PHEXSplicingSplice donor< 316636593, 9199930, 33666701, 34806794Intron 16
PHEX_0876c.1700+5G>AIntronicPHEXSplicingSplice donorLikely Pathogenic< 3Reduced_TmP/GFR_(34806794Intron 16
PHEX_0546c.1701-16T>Ap.?PHEXSplicingIntronic6-1031102713, 31821448, 9097956, 34806794Intron 16
PHEX_0550c.1701-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic3-534806794Intron 16
PHEX_0553c.1701-2A>TSplice acceptorPHEXSplicingSplice acceptorPathogenic< 334806794Intron 16
PHEX_0548c.1701-1delSplice acceptorPHEXSplicingSplice acceptorLikely Pathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Intron 16
PHEX_0552c.1701-?_1899+?delDeletion (Exons 17-18)PHEXCNVDeletionPathogenic< 3Fractures/pseudo-fra....32329911, 34806794Exons 17-18
PHEX_0547c.1701-?_2070+?delDeletion (Exons 17-20)PHEXCNVDeletionPathogenic< 3Lower Limb Deformiti....23079138, 24926463, 24926462, 21902834, 34806794Exons 17-20
PHEX_0549c.1701-?_*3357+?delDeletion (Exons 17-22)PHEXCNVDeletionPathogenic< 3Lower Limb Deformities16636593, 33295633, 32329911, 9199930, 34806794Exons 17-22
PHEX_0554c.1702T>Cp.Ser568ProPHEXSplicingIntronicUncertain Significance< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 17
PHEX_0555c.1705_1706delp.Leu569Glufs*12PHEXSmall deletionFrameshift< 321050253, 34806794Exon 17
PHEX_0878c.1706T>Gp.Leu569ArgPHEXSNVMissense< 333639975, 34806794Exon 17
PHEX_0879c.1707_1710dupp.Tyr571Glufs*12PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 17
PHEX_0556c.1708delp.Ser570Valfs*5PHEXSmall deletionDeletion< 334806794Exon 17
PHEX_0557c.1713T>Gp.Tyr571*PHEXSNVNonsensePathogenic< 334806794Exon 17
PHEX_0558c.1714G>Ap.Gly572SerPHEXSNVMissensePathogenic6-10bowed or bent legs, ....30238432, 32329911, 34806794Exon 17
PHEX_0559c.1714G>Cp.Gly572ArgPHEXSNVMissenseUncertain Significance< 334806794Exon 17
PHEX_0561c.1715G>Ap.Gly572AspPHEXSNVMissensePathogenic11-20Reduced Serum Phosph....11502829, 23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 34806794Exon 17
PHEX_0560c.1715G>Tp.Gly572ValPHEXSNVMissenseLikely Pathogenic< 3abnormal bone develo....32253725, 34806794Exon 17
PHEX_0562c.1718C>Ap.Ala573AspPHEXSNVMissense< 3Other Musculoskeletal Abnormalities10439971, 16636593, 24926462, 23079138, 34806794Exon 17
PHEX_0563c.1721T>Ap.Ile574LysPHEXSNVMissenseLikely Pathogenic3-5Short Stature, Bone ....29393334, 34806794Exon 17
PHEX_0880c.1723_1727dupp.Ile577Glufs*2PHEXSmall duplicationFrameshift< 332329911, 34806794Exon 17
PHEX_0564c.1723G>Ap.Gly575ArgPHEXSNVMissenseLikely Pathogenic< 3Reduced Serum Phosphate34806794Exon 17
PHEX_0565c.1724G>Ap.Gly575GluPHEXSNVMissensePathogenic< 333049132, 34806794Exon 17
PHEX_0566c.1727_1738delp.Val576_His580delinsAspPHEXSmall deletionDeletion/InsertionLikely Pathogenic3-521050253, 34806794Exon 17
PHEX_0567c.1728_1731dupp.Val578Asnfs*5PHEXSmall duplicationFrameshift< 322695891, 34806794Exon 17
PHEX_0568c.1735G>Ap.Gly579ArgPHEXSNVMissensePathogenic30+Other Musculoskeleta....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.Gly579ArgPHEXSNVMissense< 39199930, 11468271, 24926462, 24684036, 12727977, 20838491, 34806794Exon 17
PHEX_0881c.1735G>Tp.Gly579*PHEXSNVNonsensePathogenic< 3Fractures/pseudo-fractures, Lower limb deformities34806794Exon 17
PHEX_0569c.?p.Gly579ArgPHEXSNVMissense11-20Other Musculoskeletal Abnormalities10439971, 15470265, 23813354, 30682568, 10874297, 9097956, 25894638, 18046499, 12111239, 21604088, 27221261, 34806794Exon 17
PHEX_0571c.1736G>Tp.Gly579ValPHEXSNVMissenseLikely Pathogenic3-5Other Musculoskeleta....10439971, 11502829, 23079138, 16636593, 24926462, 12727977, 34806794Exon 17
PHEX_0572c.1738C>Gp.His580AspPHEXSNVMissenseLikely Pathogenic< 3Lower Limb Deformities34806794Exon 17
PHEX_0573c.1739A>Cp.His580ProPHEXSNVMissense< 322101457, 29460029, 34806794Exon 17
PHEX_0574c.1742A>Tp.Glu581ValPHEXSNVMissense< 311468271, 11311133, 12727977, 34806794Exon 17
PHEX_0882c.1750C>Tp.His584TyrPHEXSNVMissensePathogenic< 3Lower limb deformiti....34806794Exon 17
PHEX_0575c.1751A>Cp.His584ProPHEXSNVMissenseUncertain Significance3-5Gait Abnormalities, ....24836714, 34141703, 34806794Exon 17
PHEX_0883c.1753G>Ap.Gly585ArgPHEXSNVMissenseLikely Pathogenic< 3Lower limb deformities, Reduced Serum Phosphate34806794Exon 17
PHEX_0576c.1757T>Cp.Phe586SerPHEXSNVMissensePathogenic3-5Lower Limb Deformities18625346, 34806794Exon 17
PHEX_0577c.1765_1768delp.Asn589Valfs*29PHEXSmall deletionFrameshiftPathogenic3-5Other Musculoskeleta....19219621, 34806794Exon 17
PHEX_1067c.1768G > Ap. G590SPHEXSNVMissense3-5short stature, gene varum, osteoarthritis35251124Exon 17
PHEX_0540c.1768+?insPHEXSplicingUnknown< 39768674, 34806794Intron 17
PHEX_0579c.1768+1delSplice donorPHEXSplicingSplice donorLikely Pathogenic< 334806794Intron 17
PHEX_0585c.1768+1G>Ap.?PHEXSplicingSplice donor3-5Lower Limb Deformities10439971, 16636593, 28383812, 34806794Intron 17
PHEX_0578c.1768+1G>Cp.?PHEXSplicingSplice donorPathogenic3-518625346, 16636593, 34806794Intron 17
PHEX_1068c.1768+1G>Tp.?PHEXSplicingSplice donorPathogenic<334141703Intron 17
PHEX_0531c.1768+? Poly TPHEXSNVUnknown< 39768674, 34806794Intron 17
PHEX_0584c.1768+2delSplice donorPHEXSplicingSplice donorPathogenic< 334806794Intron 17
PHEX_0581c.1768+2dupp.?PHEXSplicingSplice donorPathogenic< 319219621, 34806794Intron 17
PHEX_1069c.1768+2T>Cp.?PHEXSplicingSplice donorPathogenic<3abnormal bone develo....32253725Intron 17
PHEX_0586c.1768+2T>Gp.?PHEXSplicingSplice donor3-5Bone and/or Joint Pa....24836714, 31102713, 32257293, 33666701, 34141703, 34806794Intron 17
PHEX_0580c.1768+3_1768+4insTp.?PHEXSplicingIntronic< 315057978, 34806794Intron 17
PHEX_0583c.1768+4_1768+7delIntronicPHEXSplicingIntronicUncertain Significance< 334806794Intron 17
PHEX_0588c.1768+5G>Ap.?PHEXSplicingIntronicPathogenic6-10Gait Abnormalities, ....15057978, 24926462, 18162710, 31102713, 23079138, 34806794Intron 17
PHEX_0587c.1768+177_1768+180dupp.?PHEXSplicingIntronic< 3Short Stature, Other Musculoskeletal Abnormalities24926462, 21902834, 34806794Intron 17
PHEX_0885c.1769-10C>Tp.?PHEXSplicingIntronic< 333295632, 34141703, 34806794, 19219621, 24489884Intron 17
PHEX_1070c.1769-6_1784dupIntronicPHEXSmall insertionNonsenseUncertain Significance<3Exon 18
PHEX_0884c.1769-2A>GSplice acceptorPHEXSplicingSplice acceptorPathogenic< 3Reduced Serum Phosph....34806794Intron 17
PHEX_0886c.1769-2delp.?PHEXSplicingSplice acceptor3-532257293, 34806794Intron 17
PHEX_0591c.1769-1G>Ap.Gly590Glufs*28PHEXSplicingSplice acceptor, Frameshift< 3Other Musculoskeleta....30599486, 26559751, 34806794Intron 17, exons 17-18
PHEX_0589c.1769-1G>Cp.?PHEXSplicingSplice acceptorPathogenic3-5Gait abnormalities, ....21050253, 31102713, 34806794Intron 17
PHEX_1138c.?Deletion (Exons 18-20)PHEXDeletionPathogenic<3Gait abnormalities, ....Exons 18-20
PHEX_1127c.1769-?_1899+?delDeletion (Exon 18)PHEXDeletionPathogenic<3Intron 17
PHEX_0590c.1769-?_2070+?dupGain (Exons 18-20)PHEXCNVDuplicationLikely Pathogenic< 334806794Intron 17
PHEX_0592c.1775_1778dupp.Tyr593*PHEXSmall duplicationNonsense< 329460029, 34806794Exon 18
PHEX_0594c.1779_1782dupp.Lys595*PHEXSmall duplicationNonsensePathogenic3-5bowed or bent legs32329911, 19219621, 34806794Exon 18
PHEX_0593c.1779T>Ap.Tyr593*PHEXSNVNonsense< 3Other Musculoskeleta....19219621, 32253725, 34806794Exon 18
PHEX_0595c.1779T>Gp.Tyr593*PHEXSNVNonsensePathogenic< 334806794Exon 18
PHEX_0597c.1783_1784insTGATp.Lys595Metfs*13PHEXSmall insertionFrameshift< 316636593, 23813354, 9199930, 34806794Exon 18
PHEX_1112c.1783A>Tp.Lys595*PHEXSNVNonsensePathogenic<3short stature, Chiari malformation, Dolichocephaly32253725Exon 18
PHEX_0598c.1787dupp.Asn596Lysfs*11PHEXSmall insertionFrameshift< 316636593, 34806794Exon 18
PHEX_0599c.1789G>Tp.Gly597*PHEXSNVNonsensePathogenic< 334806794Exon 18
PHEX_0600c.1800dupp.Pro601Serfs*6PHEXSmall duplicationFrameshiftPathogenic3-534806794Exon 18
PHEX_0602c.1802delp.Pro601Leufs*18PHEXSmall deletionFrameshift< 316636593, 34806794Exon 18
PHEX_0603c.1805G>Ap.Trp602*PHEXSNVNonsensePathogenic< 3Short Stature, Fract....25983897, 34806794Exon 18
PHEX_0606c.1806G>Ap.Trp602*PHEXSNVNonsensePathogenic6-10Short Stature, Other....19513579, 28383812, 19219621, 34141703, 34806794Exon 18
PHEX_0604c.1806delp.Trp602Cysfs*17PHEXSmall deletionFrameshiftPathogenic< 3Tooth Abscesses and/....34806794Exon 18
PHEX_0605c.1806dupp.Trp603Valfs*4PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 18
PHEX_0608c.1809_1816delp.Trp603*PHEXSmall deletionNonsense< 318625346, 16636593, 34806794Exon 18
PHEX_0607c.1809G>Ap.Trp603*PHEXSNVNonsensePathogenic6-10Gait abnormalities, ....23813354, 21293852, 18046499, 19513579, 24857004, 34806794Exon 18
PHEX_0887c.1812delp.Thr605Leufs*14PHEXSmall deletionFrameshiftPathogenic6-10Reduced_TmP/GFR_(34806794Exon 18
PHEX_0609c.1818_1821dupp.Glu608Ilefs*6PHEXSmall duplicationFrameshiftPathogenic< 3Gait Abnormalities, Lower Limb Deformities34806794Exon 18
PHEX_0610c.1825_1828dupp.Lys610Argfs*4PHEXSmall insertionFrameshift< 332329911, 34806794Exon 18
PHEX_0611c.1825G>Tp.Glu609*PHEXSNVNonsense< 3Short Stature, Other Musculoskeletal Abnormalities21902834, 24926462, 23079138, 21293852, 34806794Exon 18
PHEX_0612c.1826_1830delp.Glu609Valfs*2PHEXSmall deletionFrameshift3-5Tooth Abscesses and/....16636593, 24926462, 23079138, 21293852, 24857004, 34806794Exon 18
PHEX_0613c.1828_1829dupp.Phe611Serfs*9PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 18
PHEX_0614c.1828_1832dupp.Phe611Leufs*10PHEXSmall duplicationFrameshiftPathogenic< 3Reduced_TmP/GFR_(34806794Exon 18
PHEX_0615c.1830delp.Lys610Asnfs*9PHEXSmall deletionFrameshift< 322101457, 29460029, 34806794Exon 18
PHEX_0616c.1832_1833delp.Phe611*PHEXSmall deletionNonsense< 39199930, 16636593, 34806794Exon 18
PHEX_0617c.1843delp.Thr615Glnfs*4PHEXSmall deletionFrameshiftPathogenic3-5Lower limb deformities23813354, 21293852, 24857004, 34806794Exon 18
PHEX_0618c.1843dupp.Thr615Asnfs*6PHEXSmall insertionFrameshiftPathogenic6-10short stature, teeth....19219621, 27840894, 34141703, 34806794Exon 18
PHEX_0889c.1844_1845delp.Thr615Lysfs*5PHEXSmall deletionFrameshift< 332329911, 34806794Exon 18
PHEX_1071c.1844_1845dupp.Lys616Glnfs*4PHEXSmall insertionFrameshiftPathogenic<3abnormal dental deve....30406928Exon 18
PHEX_0620c.1844_1847dupp.Lys616Asnfs*6PHEXSmall insertionFrameshiftPathogenic< 3abnormal bone development, bowed or bent leg21050253, 32253725, 34806794Exon 18
PHEX_0622c.1847_1848delp.Lys616Metfs*4PHEXSmall deletionFrameshiftPathogenic< 3Lower Limb Deformities34806794Exon 18
PHEX_0623c.1848delp.Lys616Asnfs*3PHEXSmall deletionFrameshiftPathogenic11-2018625346, 20157195, 34806794Exon 18
PHEX_0624c.1848dupp.Cys617Metfs*4PHEXSmall insertionFrameshift< 316636593, 34806794Exon 18
PHEX_0625c.1850G>Tp.Cys617PhePHEXSNVMissenseUncertain Significance3-5Gait Abnormalities, ....34806794Exon 18
PHEX_0626c.1854_1857dupp.Asn620Aspfs*2PHEXSmall duplicationFrameshiftPathogenic< 319219621, 34806794Exon 18
PHEX_0630c.1859_1862dupp.Tyr622Profs*3PHEXSmall insertionFrameshiftPathogenic< 326051471, 34806794Exon 18
PHEX_0628c.1861C>Tp.Gln621*PHEXSNVNonsense< 322101457, 22913777, 24857004, 34806794Exon 18
PHEX_0629c.1862A>Gp.Gln621ArgPHEXSNVMissense< 39768674, 16636593, 21604088, 34806794Exon 18
PHEX_1113c.1863_1870delp.Tyr622Leufs*22PHEXSmall deletionFrameshiftPathogenic<334141703Exon 18
PHEX_1072c.1864T>Cp.Tyr622HisPHEXSNVMissenseUncertain Significance<3Gait abnormalities, ....Exon 18
PHEX_0890c.1873_1876dupp.Tyr626Leufs*22PHEXSmall duplicationFrameshiftPathogenic< 3Reduced_TmP/GFR_(34806794Exon 18
PHEX_0631c.1874_1875dupp.Tyr626Ilefs*8PHEXSmall duplicationFrameshift< 329460029, 34806794Exon 18
PHEX_0891c.1875_1882dupp.Lys628Ilefs*8PHEXSmall duplicationFrameshiftPathogenic< 3Lower limb deformities, Reduced Serum Phosphate34806794Exon 18
PHEX_0632c.1875T>Gp.Tyr625*PHEXSNVNonsensePathogenic< 334806794Exon 18
PHEX_0633c.1880G>Ap.Trp627*PHEXSNVNonsensePathogenic< 3Fractures/Pseudo-Fra....34806794Exon 18
PHEX_0635c.?p.Trp627*PHEXSNVNonsense3-5radiological signs o....19242361, 27221261, 34806794Exon 18
PHEX_0634c.1881G>Ap.Trp627*PHEXSNVNonsensePathogenic3-516636593, 15057978, 34806794Exon 18
PHEX_1073c.1885_1888dupp.Ala630Glufs*18PHEXSmall insertionFrameshiftPathogenic<3Bone and/or joint pa....Exon 18
PHEX_1074c.1895_1899+18delp.?PHEXSmall deletionSplice donorPathogenic<3abnormal bone develo....19219621Exon 18, Intron 18
PHEX_0638c.1899+1G>Ap.?PHEXSplicingSplice donorPathogenic3-5Other Musculoskeleta....19219621, 34806794Intron 18
PHEX_0639c.1899+1G>Tp.?PHEXSplicingSplice donor< 321050253, 31102713, 34806794Intron 18
PHEX_0637c.1899+2T>Ap.?PHEXSplicingSplice donor< 331102713, 21293852, 24857004, 34806794Intron 18
PHEX_0636c.1899+3G>CIntronicPHEXSplicingIntronicUncertain Significance< 3Fractures/Pseudo-Fractures, Lower Limb Deformities34806794Intron 18
PHEX_0640c.1899+5G>Ap.?PHEXSplicingIntronic< 3Other Musculoskeleta....31102713, 19219621, 34806794Intron 18
PHEX_1075c.1900-29_1900-28insATTp.?PHEXSmall insertionIntronicUncertain Significance<319219621Intron 18
PHEX_0642c.1900-1G>Ap.?PHEXSplicingSplice acceptorPathogenic< 3Gait abnormalities, ....16261449, 34806794Intron 18
PHEX_0641c.1900-?_*3357+?delDeletion (Exons 19-22)PHEXCNVDeletion< 316636593, 9199930, 34806794Exons 19-22
PHEX_0892c.1900-?_1965+?delDeletion (Exon 19)PHEXCNVDeletionPathogenic< 3Gait abnormalities, ....34806794Intron 18
PHEX_0643c.1900-?_2070+?delDeletion (Exons 19-20)PHEXCNVDeletionPathogenic3-534141703, 34806794Intron 18
PHEX_0644c.1919T>Cp.Leu640ProPHEXSNVMissensePathogenic3-5Other Musculoskeleta....19219621, 33666701, 34806794Exon 19
PHEX_0893c.1921G>Tp.Gly641*PHEXSNVNonsensePathogenic< 3Gait abnormalities, Lower limb deformities34806794Exon 19
PHEX_0646c.1927_1930dupp.Ile644Lysfs*4PHEXSmall insertionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 19
PHEX_0647c.1929delp.Asn643Lysfs*19PHEXSmall deletionFrameshift< 316636593, 34806794Exon 19
PHEX_0648c.1933G>Ap.Ala645ThrPHEXSNVMissenseLikely Pathogenic< 334806794Exon 19
PHEX_0649c.1935_1938dupp.Asn647*PHEXSmall duplicationNonsensePathogenic6-10Gait Abnormalities, ....34806794Exon 19
PHEX_0895c.1936_?delp.Asp646_?delPHEXSmall deletionDeletion< 332133333, 34806794Exon 19
PHEX_0652c.1936_1938delp.Asp646delPHEXSmall deletionDeletion< 3Short Stature, Other Musculoskeletal Abnormalities24926462, 23079138, 21902834, 34806794Exon 19
PHEX_0894c.1936delp.Asp646Ilefs*16PHEXSmall deletionFrameshift< 333639975, 34806794Exon 19
PHEX_0651c.1936_1939dupp.Asn647Argfs*2PHEXSmall duplicationFrameshiftPathogenic< 316636593, 11502829, 34806794Exon 19
PHEX_0650c.1936G>Ap.Asp646AsnPHEXSNVMissense3-5Skull Deformities, Short Stature21050253, 34806794Exon 19
PHEX_0653c.1936G>Cp.Asp646HisPHEXSNVMissenseLikely Pathogenic< 3Gait abnormalities34806794Exon 19
PHEX_0654c.1936G>Tp.Asp646TyrPHEXSNVMissenseUncertain Significance< 334806794Exon 19
PHEX_1076c.1937A>Gp.Asp646GlyPHEXSNVMissensePathogenic<3Exon 19
PHEX_0658c.1942G>Ap.Gly648ArgPHEXSNVMissenseUncertain Significance< 334806794Exon 19
PHEX_0657c.1942G>Cp.Gly648ArgPHEXSNVMissenseUncertain Significance< 334806794Exon 19
PHEX_0659c.1942G>Tp.Gly648*PHEXSNVNonsense< 3Skull Deformities, O....26051471, 34806794Exon 19
PHEX_0660c.1946G>Ap.Gly649AspPHEXSNVMissense3-522577109, 23312231, 34806794Exon 19
PHEX_0896c.1949T>Cp.Leu650ProPHEXSNVMissenseUncertain Significance3-5abnormal bone develo....32252220, 34011663, 34806794Exon 19
PHEX_1077c.1951delp.Arg651Glyfs*11PHEXSmall deletionFrameshiftPathogenic<3Lower limb deformiti....Exon 19
PHEX_0663c.1956_1957insGCTTGGGAAp.Ala653_Phe654insTrpGluAlaPHEXSmall insertionInsertion< 3Other Musculoskeleta....19219621, 34806794Exon 19
PHEX_0662c.1952G>Cp.Arg651ProPHEXSNVMissense6-10Other Musculoskeleta....10439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 34806794Exon 19
PHEX_0661c.1954_1965delp.Glu652_Arg655delPHEXSmall deletionDeletion< 316636593, 18162710, 16055933, 34806794Exon 19
PHEX_0664c.1958C>Ap.Ala653AspPHEXSNVMissenseUncertain Significance3-522101457, 29460029, 33049132, 34806794Exon 19
PHEX_0665c.1960T>Ap.Phe654IlePHEXSNVMissenseLikely Pathogenic< 334806794Exon 19
PHEX_0666c.1961_1963delTTAinsp.Phe654Serfs*8PHEXSmall insertionDeletion/InsertionPathogenic< 334806794Exon 19
PHEX_0897c.1961T>Cp.Phe654SerPHEXSNVMissense< 333639975, 34806794Exon 19
PHEX_0898c.1962dupp.Arg655*PHEXSmall duplicationNonsense< 332329911, 34806794Exon 19
PHEX_0668c.1965+1G>Ap.?PHEXSplicingSplice donor6-10Tooth Abscesses and/....10439971, 29460029, 9097956, 16636593, 24926462, 18162710, 21902834, 30599486, 19219621, 23079138, 34806794Intron 19
PHEX_0667c.1965+1G>Tp.?PHEXSplicingSplice donor< 3Short Stature, Lower Limb Deformities25115781, 34806794Intron 19
PHEX_0670c.1966-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic3-534141703, 34806794Intron 19
PHEX_0669c.1966_1969dupp.Tyr657Cysfs*8PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 20
PHEX_0672c.1967_?delp.Asp657_?delPHEXSmall deletionDeletion3-5radiological signs o....30607568, 33639975, 34806794Exon 20
PHEX_0671c.1967_2025delp.Ala656Aspfs*41PHEXSmall deletionFrameshift< 325086671, 21050253, 34806794Exon 20
PHEX_0899c.1966-?_2070+?delDeletion (Exon 20)PHEXCNVDeletionLikely Pathogenic< 3Gait abnormalities, ....34806794Intron 19
PHEX_0673c.1970A>Gp.Tyr657CysPHEXSNVMissense< 3Other Musculoskeleta....29707405, 19219621, 34806794Exon 20
PHEX_0900c.1971C>Gp.Tyr657*PHEXSNVNonsensePathogenic3-5Fractures/pseudo-fractures, Lower limb deformities34806794Exon 20
PHEX_0674c.1973_1984dupp.Arg658_Ile661dupPHEXSmall duplicationInsertionUncertain Significance< 3Lower Limb Deformities34806794Exon 20
PHEX_0675c.1978_1988delp.Trp660Glnfs*6PHEXSmall deletionFrameshift< 329460029, 34806794Exon 20
PHEX_0901c.1979_1995dupp.Gln666Glyfs*2PHEXSmall duplicationFrameshift< 332329911, 34806794Exon 20
PHEX_0676c.1979G>Ap.Trp660*PHEXSNVNonsensePathogenic6-1016636593, 9199930, 29707405, 34141703, 34806794Exon 20
PHEX_0677c.1980G>Ap.Trp660*PHEXSNVNonsense< 3Tooth Abscesses and/....24836714, 34806794Exon 20
PHEX_0902c.1982_1986dupp.Asp663*PHEXSmall duplicationNonsensePathogenic< 3Lower limb deformiti....34806794Exon 20
PHEX_1078c.1985delp.Asn662Metfs*25PHEXSmall deletionFrameshiftPathogenic<3Gait abnormalities, ....Exon 20
PHEX_0904c.1986_1987insTGACp.Asp663*PHEXSplicingNonsense< 324926462, 23079138, 16636593, 34806794, 10439971Exon 20
PHEX_0903c.1986_1989dupp.Arg664*PHEXSmall duplicationNonsense< 332329911, 34806794Exon 20
PHEX_0678c.1989_1990delp.Asp663Glufs*6PHEXSmall deletionFrameshiftPathogenic< 3Other Musculoskeleta....10439971, 19219621, 34806794Exon 20
PHEX_0680c.1991_1992insTGACp.Arg664Serfs*7PHEXSmall insertionFrameshift< 324926462, 23079138, 15057978, 9199930, 16636593, 34806794Exon 20
PHEX_0681c.1993delp.Arg665Glyfs*22PHEXSmall deletionFrameshift< 3Tooth Abscesses and/....16636593, 11502829, 34806794Exon 20
PHEX_0682c.1996_2008delp.Gln666Serfs*17PHEXSmall deletionFrameshift< 316636593, 18162710, 16055933, 34806794Exon 20
PHEX_0683c.1999G>Tp.Gly667*PHEXSNVNonsensePathogenic< 334806794Exon 20
PHEX_0684c.2000delp.Gly667Aspfs*20PHEXSmall deletionFrameshiftPathogenic< 3Gait abnormalities, ....34806794Exon 20
PHEX_1079c.2002_2006dupp.Glu669Aspfs*20PHEXSmall insertionFrameshiftPathogenic3-5abnormal bone develo....34141703, 32253725Exon 20
PHEX_0685c.2004_2018delp.Glu669_Leu673delPHEXSmall deletionDeletionUncertain Significance< 334806794Exon 20
PHEX_0905c.2005_2016delp.Glu669_Leu672delPHEXSmall deletionDeletionUncertain Significance< 334806794Exon 20
PHEX_0687c.2008G>Ap.Glu670LysPHEXSNVMissenseUncertain Significance< 334806794Exon 20
PHEX_0686c.2008delp.Glu670Serfs*17PHEXSmall deletionFrameshift< 322695891, 34806794Exon 20
PHEX_0688c.2009A>Tp.Glu670ValPHEXSNVMissenseUncertain Significance< 334806794Exon 20
PHEX_1080c.2011_2045delp.Pro671Alafs*34PHEXSmall deletionFrameshiftPathogenic<333666701Exon 20
PHEX_1081c.2011C>Ap.Pro671ThrPHEXSNVMissenseUncertain Significance<334141703Exon 20
PHEX_0689c.2012delp.Pro671Leufs*16PHEXSmall deletionFrameshiftPathogenic< 3Gait Abnormalities, ....34806794Exon 20
PHEX_0691c.2018_2036delp.Leu673Profs*8PHEXSmall deletionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 20
PHEX_0690c.2018T>Gp.Leu673ArgPHEXSNVMissensePathogenic3-5Lower limb deformities29460029, 34806794Exon 20
PHEX_0692c.2021delp.Pro674Glnfs*13PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 20
PHEX_0693c.2022delp.Gly675Alafs*12PHEXSmall deletionFrameshiftPathogenic< 334806794Exon 20
PHEX_0694c.2028_2032dupp.Phe678Serfs*11PHEXSmall duplicationFrameshiftPathogenic3-5Lower Limb Deformities34806794Exon 20
PHEX_0695c.2030_2031dupp.Phe678Hisfs*10PHEXSmall duplicationFrameshiftPathogenic< 320157195, 34806794Exon 20
PHEX_0696c.2033dupp.Thr679Hisfs*38PHEXSmall insertionFrameshift3-523813354, 22713460, 24857004, 34141703, 34806794Exon 20
PHEX_1082c.2039_2042dupp.Asn681Lysfs*37PHEXSmall insertionFrameshiftPathogenic<334141703Exon 20
PHEX_0699c.2040_2041delp.Asn680Lysfs*36PHEXSmall deletionFrameshift< 3Other Musculoskeleta....19219621, 34806794Exon 20
PHEX_0697c.2040C>Ap.Asn680LysPHEXSNVMissenseUncertain Significance< 3Gait Abnormalities, Lower Limb Deformities16636593, 34806794Exon 20
PHEX_0698c.2040C>Gp.Asn680LysPHEXSNVMissenseUncertain Significance< 334806794Exon 20
PHEX_0701c.2044C>Tp.Gln682*PHEXSNVNonsense< 315057978, 34806794Exon 20
PHEX_0906c.2048T>Ap.Leu683HisPHEXSNVMissense< 329707405, 34806794Exon 20
PHEX_0702c.2048T>Cp.Leu683ProPHEXSNVMissense3-5Short Stature, Lower Limb Deformities24229582, 24857004, 34806794Exon 20
PHEX_0907c.2050_2055delp.Phe684_Phe685delPHEXSmall deletionDeletionUncertain Significance< 3Reduced_TmP/GFR_(34806794Exon 20
PHEX_0703c.2051T>Gp.Phe684CysPHEXSNVMissense< 322577109, 34806794Exon 20
PHEX_0704c.2053_2055delp.Phe685delPHEXSmall deletionDeletionUncertain Significance< 3Lower limb deformities34806794Exon 20
PHEX_1083c.2054_2057delinsAp.Phe685*PHEXDeletion/InsertionNonsensePathogenic<334141703Exon 20
PHEX_0706c.2057T>Ap.Leu686GlnPHEXSNVMissense< 333049132, 34806794Exon 20
PHEX_0707c.2057T>Cp.Leu686ProPHEXSNVMissenseUncertain Significance< 3Fractures/Pseudo-Fractures, Lower Limb Deformities34806794Exon 20
PHEX_0908c.2058_2061dupp.Tyr688Glufs*30PHEXSmall duplicationFrameshiftPathogenic< 334806794Exon 20
PHEX_0708c.2060_2063dupp.Tyr688*PHEXSmall insertionNonsensePathogenic6-1019219621, 33666701, 34806794Exon 20
PHEX_0705c.2061?insFrameshiftPHEXSmall insertionFrameshift< 39768674, 34806794Exon 20
PHEX_0709c.2061T>Gp.Ser687ArgPHEXSNVMissenseLikely Pathogenic< 334806794Exon 20
PHEX_0710c.2063_2070+2delPHEXSplicingSplice donorPathogenic< 334806794Exon 20
PHEX_0712c.2064T>Ap.Tyr688*PHEXSNVNonsensePathogenic3-5Other Musculoskeleta....10439971, 23079138, 16636593, 24926462, 34806794Exon 20
PHEX_1114c.2064T>Gp.Tyr688*PHEXSNVNonsenseConflict3-5abnormal bone develo....32253725Exon 20
PHEX_0713c.2065G>Cp.Ala689ProPHEXSNVMissenseUncertain Significance< 3Gait Abnormalities, ....34806794Exon 20
PHEX_0715c.2066C>Ap.Ala689AspPHEXSNVMissense< 322101457, 29460029, 34806794Exon 20
PHEX_0714c.2066C>Tp.Ala689ValPHEXSNVMissense< 3Other Musculoskeleta....26561226, 34806794Exon 20
PHEX_0909c.2067_2068dupp.His690Leufs*3PHEXSmall duplicationFrameshiftPathogenic< 3Fractures/pseudo-fra....34806794Exon 20
PHEX_0718c.2070+1G>ASplice donorPHEXSplicingSplice donorPathogenic3-534806794Intron 20
PHEX_0716c.2070+1G>TSplice donorPHEXSplicingSplice donorLikely Pathogenic< 334806794Intron 20
PHEX_0910c.2070+2T>Gp.?PHEXSplicingSplice donor< 332329911, 34806794Intron 20
PHEX_0717c.2070+5G>CIntronicPHEXSplicingSplice donorPathogenic3-5Gait abnormalities, ....34806794Intron 20
PHEX_0912c.2071-2_2072delPHEXSplicingSplice acceptorPathogenic< 3Gait abnormalities, ....34806794Intron 20
PHEX_0722c.2071-2A>Cp.?PHEXSplicingSplice acceptorPathogenic3-5abnormal bone develo....10439971, 19219621, 34141703, 34806794Intron 20
PHEX_0724c.2071-2A>Gp.?PHEXSplicingSplice acceptorPathogenic6-10Gait Abnormalities, Lower Limb Deformities16261449, 12414858, 22695891, 16636593, 22577109, 34806794Intron 20
PHEX_0723c.2071-1G>Ap.?PHEXSplicingSplice acceptorPathogenic3-5Gait Abnormalities, ....12414858, 16636593, 15057978, 34806794Intron 20
PHEX_1084c.2071-1G>CSplice acceptorPHEXSplicingSplice acceptorPathogenic<3<