PHEX — 1390 ClinVar variants
All ClinVar germline PHEX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 248 flagged for review →
591 Pathogenic · 62 Pathogenic/Likely pathogenic · 133 Likely pathogenic · 65 Conflicting · 93 Benign · 35 Benign/Likely benign · 141 Likely benign · 270 Uncertain significance
Full PHEX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 248
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 6
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PHEX p.Ala720Thr
Pathogenic
Multiple submitters
PHEX-related disorder
-
PHEX p.Asp349Gly
Pathogenic/Likely pathogenic
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ala459Glu
Pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Asn588Ser
Pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Leu227Ile
Pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Pro671Thr Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 32
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PHEX p.Ala62Val
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ala84Asp
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Arg161Gln
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Arg381Cys
Conflicting
Single submitter
Inborn genetic diseases
- PHEX p.Arg716Thr Conflicting Single submitter
-
PHEX p.Asn200Asp
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Asp313Asn
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Cys142Ser
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Gln133Glu
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Gln621Pro
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Glu4Gln
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Gly102Trp Conflicting Single submitter
-
PHEX p.Gly649Asp
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.His218Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.His690Asn
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Leu305Arg
Conflicting
Single submitter
PHEX-related disorder
- PHEX p.Leu438Ser Conflicting Single submitter
-
PHEX p.Leu569Pro
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Leu673Pro Conflicting Single submitter
- PHEX p.Lys511Thr Conflicting Single submitter
- PHEX p.Phe654Ile Conflicting Single submitter
-
PHEX p.Pro401Leu
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ser209Cys
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Thr35Met
Conflicting
Single submitter
Inborn genetic diseases
-
PHEX p.Thr461Lys
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Thr738Met
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Trp167Arg Conflicting Single submitter
-
PHEX p.Trp456Arg
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Trp456Cys
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Val231Met
Conflicting
Single submitter
Inborn genetic diseases
- PHEX p.Val442Phe Conflicting Single submitter
-
PHEX p.Val506Ile
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
PHEX c.850-2A>G
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
Predictors lean, ClinVar uncertain 145
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PHEX p.Ala135Thr
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ala524Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Arg325Thr
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Arg510His
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Arg651Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Asn680Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Asn718Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PHEX p.Asp211Glu Uncertain significance Multiple submitters
- PHEX p.Asp485Gly Uncertain significance Multiple submitters
- PHEX p.Asp501Asn Uncertain significance Multiple submitters
-
PHEX p.Asp501Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PHEX p.Gln714Arg Uncertain significance Multiple submitters
-
PHEX p.Glu130Lys
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
- PHEX p.Glu337Lys Uncertain significance Multiple submitters
-
PHEX p.Glu670Val
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
- PHEX p.Gly316Val Uncertain significance Multiple submitters
-
PHEX p.Ile644Thr
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Leu37Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PHEX p.Lys251Glu Uncertain significance Multiple submitters
-
PHEX p.Met483Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Pro698Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Pro76Ala
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ser607Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Thr129Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PHEX p.Thr461Met Uncertain significance Multiple submitters
-
PHEX p.Thr605Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Trp603Ser
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Tyr626His
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Val371Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Val476Ile
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Val525Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PHEX p.Ala135Asp Uncertain significance Single submitter
- PHEX p.Ala147Gly Uncertain significance Single submitter
- PHEX p.Ala242Gly Uncertain significance Single submitter
- PHEX p.Ala282Asp Uncertain significance Single submitter
-
PHEX p.Ala295Gly
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ala465Asp Uncertain significance Single submitter
- PHEX p.Ala494Gly Uncertain significance Single submitter
-
PHEX p.Ala552Val
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ala62Glu Uncertain significance Single submitter
- PHEX p.Ala62Thr Uncertain significance Single submitter
- PHEX p.Ala63Ser Uncertain significance Single submitter
- PHEX p.Ala656Asp Uncertain significance Single submitter
- PHEX p.Ala700Thr Uncertain significance Single submitter
- PHEX p.Ala701Pro Uncertain significance Single submitter
- PHEX p.Arg205His Uncertain significance Single submitter
- PHEX p.Arg20Gln Uncertain significance Single submitter
- PHEX p.Arg276Lys Uncertain significance Single submitter
- PHEX p.Arg385Lys Uncertain significance Single submitter
- PHEX p.Arg443Pro Uncertain significance Single submitter
- PHEX p.Arg591Gly Uncertain significance Single submitter
- PHEX p.Arg82Leu Uncertain significance Single submitter
- PHEX p.Asn546Lys Uncertain significance Single submitter
- PHEX p.Asn647Ile Uncertain significance Single submitter
- PHEX p.Asn71Tyr Uncertain significance Single submitter
- PHEX p.Asp234Ala Uncertain significance Single submitter
- PHEX p.Asp234Gly Uncertain significance Single submitter
- PHEX p.Asp255Val Uncertain significance Single submitter
- PHEX p.Asp332Tyr Uncertain significance Single submitter
- PHEX p.Asp458Tyr Uncertain significance Single submitter
- PHEX p.Asp600His Uncertain significance Single submitter
- PHEX p.Asp600Tyr Uncertain significance Single submitter
- PHEX p.Asp646Tyr Uncertain significance Single submitter
-
PHEX p.Cys59Phe
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Cys617Arg Uncertain significance Single submitter
- PHEX p.Gln197Lys Uncertain significance Single submitter
-
PHEX p.Gln224Lys
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Gln383Arg Uncertain significance Single submitter
- PHEX p.Glu278Lys Uncertain significance Single submitter
- PHEX p.Glu499Gly Uncertain significance Single submitter
-
PHEX p.Glu670Lys
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Glu699Val Uncertain significance Single submitter
-
PHEX p.Gly196Val
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Gly261Val Uncertain significance Single submitter
-
PHEX p.Gly641Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Gly649Val
Uncertain significance
Single submitter
hypophosphatemic rickets
-
PHEX p.His269Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.His584Pro Uncertain significance Single submitter
- PHEX p.His690Pro Uncertain significance Single submitter
- PHEX p.Ile279Met Uncertain significance Single submitter
-
PHEX p.Ile284Leu
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ile302Val Uncertain significance Single submitter
-
PHEX p.Ile318Met
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ile410Val
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ile661Val Uncertain significance Single submitter
- PHEX p.Ile66Asn Uncertain significance Single submitter
-
PHEX p.Ile66Met
Uncertain significance
Single submitter
PHEX-related disorder
-
PHEX p.Ile707Thr
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Leu113Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Leu170Val Uncertain significance Single submitter
- PHEX p.Leu236Val Uncertain significance Single submitter
-
PHEX p.Leu378Arg
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Leu507Pro Uncertain significance Single submitter
- PHEX p.Leu507Val Uncertain significance Single submitter
-
PHEX p.Leu555Phe
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Leu668Ile Uncertain significance Single submitter
- PHEX p.Leu686Pro Uncertain significance Single submitter
- PHEX p.Lys319Thr Uncertain significance Single submitter
- PHEX p.Lys466Gln Uncertain significance Single submitter
- PHEX p.Lys468Glu Uncertain significance Single submitter
- PHEX p.Lys628Glu Uncertain significance Single submitter
- PHEX p.Met143Val Uncertain significance Single submitter
- PHEX p.Met421Ile Uncertain significance Single submitter
- PHEX p.Met435Arg Uncertain significance Single submitter
- PHEX p.Met449Ile Uncertain significance Single submitter
- PHEX p.Met618Arg Uncertain significance Single submitter
- PHEX p.Phe80Ser Uncertain significance Single submitter
- PHEX p.Phe81Leu Uncertain significance Single submitter
-
PHEX p.Pro164Arg
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Pro566Arg Uncertain significance Single submitter
- PHEX p.Pro674Gln Uncertain significance Single submitter
- PHEX p.Ser140Leu Uncertain significance Single submitter
-
PHEX p.Ser163Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Ser172Phe
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Ser201Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Ser273Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Ser306Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Ser334Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Ser568Pro Uncertain significance Single submitter
- PHEX p.Ser695Cys Uncertain significance Single submitter
-
PHEX p.Thr240Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Thr256Pro Uncertain significance Single submitter
- PHEX p.Thr5Ser Uncertain significance Single submitter
- PHEX p.Thr605Ile Uncertain significance Single submitter
-
PHEX p.Thr639Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Trp749Ser Uncertain significance Single submitter
- PHEX p.Tyr198Phe Uncertain significance Single submitter
- PHEX p.Tyr207Cys Uncertain significance Single submitter
-
PHEX p.Tyr250His
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Tyr327His
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Tyr622His Uncertain significance Single submitter
-
PHEX p.Tyr625Cys
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Val103Ile Uncertain significance Single submitter
- PHEX p.Val258Met Uncertain significance Single submitter
- PHEX p.Val274Ala Uncertain significance Single submitter
- PHEX p.Val371Asp Uncertain significance Single submitter
- PHEX p.Val407Gly Uncertain significance Single submitter
- PHEX p.Val407Ile Uncertain significance Single submitter
-
PHEX p.Val40Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Val417Ile Uncertain significance Single submitter
-
PHEX p.Val418Ala
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Val423Ala Uncertain significance Single submitter
- PHEX p.Val442Asp Uncertain significance Single submitter
- PHEX p.Val576Ile Uncertain significance Single submitter
-
PHEX p.Ser623Asn
Uncertain significance
No assertion criteria
PHEX-related disorder
Predictors split 64
The independent predictors disagree with each other — read with care.
-
PHEX p.Arg166His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Arg443His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Arg567Pro
Pathogenic/Likely pathogenic
Multiple submitters
PHEX-related disorder
- PHEX p.Asn301His Benign/Likely benign Multiple submitters
-
PHEX p.Asp211Asn
Benign/Likely benign
Multiple submitters
X-linked dominant hypophosphatemic rickets
- PHEX p.Cys693Arg Likely pathogenic Multiple submitters
-
PHEX p.Cys85Phe
Pathogenic/Likely pathogenic
Multiple submitters
PHEX-related disorder
-
PHEX p.Cys85Ser
Pathogenic/Likely pathogenic
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Leu399Ser
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
-
PHEX p.Met296Thr
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
- PHEX p.Pro713His Uncertain significance Multiple submitters
-
PHEX p.Ser695Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHEX p.Val321Phe
Uncertain significance
Multiple submitters
X-linked dominant hypophosphatemic rickets
- PHEX p.Ala413Pro Pathogenic Single submitter
-
PHEX p.Ala471Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Ala573Thr
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ala689Gly Uncertain significance Single submitter
-
PHEX p.Ala730Ser
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ala84Thr Uncertain significance Single submitter
- PHEX p.Arg127Trp Benign Single submitter
-
PHEX p.Arg161Trp
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Arg166Cys Likely benign Single submitter
-
PHEX p.Arg205Cys
Conflicting
Single submitter
Inborn genetic diseases
- PHEX p.Arg342Cys Likely benign Single submitter
-
PHEX p.Arg342His
Conflicting
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Arg381His
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Arg567Gln
Likely benign
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Arg651Gln Benign Single submitter
-
PHEX p.Arg82Trp
Conflicting
Single submitter
Inborn genetic diseases
- PHEX p.Asn505Thr Uncertain significance Single submitter
- PHEX p.Asn647Ser Uncertain significance Single submitter
-
PHEX p.Asn736Ile
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Asn736Ser Uncertain significance Single submitter
-
PHEX p.Asp234Asn
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Cys142Phe Pathogenic Single submitter
-
PHEX p.Cys142Tyr
Likely pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Cys85Arg
Pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Cys85Tyr
Pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
-
PHEX p.Gln224His
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Glu289Lys Uncertain significance Single submitter
-
PHEX p.Gly43Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHEX p.Gly719Ala
Likely pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Ile204Asn Likely pathogenic Single submitter
- PHEX p.Ile644Val Likely benign Single submitter
-
PHEX p.Ile94Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Leu206Trp Pathogenic Single submitter
-
PHEX p.Leu236Pro
Pathogenic
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Leu672Pro Uncertain significance Single submitter
-
PHEX p.Lys595Arg
Uncertain significance
Single submitter
X-linked dominant hypophosphatemic rickets
- PHEX p.Met370Arg Conflicting Single submitter
- PHEX p.Met434Ile Uncertain significance Single submitter
-
PHEX p.Phe409Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Phe518Leu Benign Single submitter
- PHEX p.Phe559Leu Conflicting Single submitter
- PHEX p.Pro534Thr Pathogenic Single submitter
-
PHEX p.Ser412Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PHEX p.Ser542Asn Uncertain significance Single submitter
- PHEX p.Ser542Thr Uncertain significance Single submitter
- PHEX p.Thr535Met Uncertain significance Single submitter
- PHEX p.Tyr327Cys Uncertain significance Single submitter
- PHEX p.Tyr657His Pathogenic Single submitter
- PHEX p.Val578Leu Uncertain significance Single submitter
-
PHEX p.Ala363Val
Uncertain significance
No assertion criteria
X-linked dominant hypophosphatemic rickets
-
PHEX p.Leu569Arg
Uncertain significance
No assertion criteria
PHEX-related disorder
All PHEX variants
Pathogenic 591
Showing the top 300 by review status; the full set is in the sitemap.
- c.1079+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1079+2_1079+5del Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1079+2T>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1080-1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1080-2A>G Multiple submitters
- c.1080-3C>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1173+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1173+2T>C Multiple submitters
- c.1174-1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1174-2A>G Multiple submitters
- c.118+1G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1302+1G>A Multiple submitters PHEX-related disorder
- c.1303-2A>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1482+1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1482+5G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1483-1G>A Multiple submitters
- c.1483-1G>C Multiple submitters
- c.1586_1586+1del Multiple submitters PHEX-related disorder
- c.1586+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1586+2T>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1587-1G>A Multiple submitters PHEX-related disorder
- c.1646-2A>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1700+1G>A Multiple submitters
- c.1700+1G>T Multiple submitters
- c.1700+2T>C Multiple submitters hypophosphatemic rickets
- c.1768+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1768+1G>C Multiple submitters hypophosphatemic rickets
- c.1768+1G>T Multiple submitters
- c.1769-1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.187+1del Multiple submitters X-linked dominant hypophosphatemic rickets
- c.187+1G>A Multiple submitters
- c.1899+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1966-1G>A Multiple submitters hypophosphatemic rickets
- c.2071-1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.2071-1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.2071-2A>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.2071-2A>G Multiple submitters
- c.2147+1G>A Multiple submitters
- c.2147+2_2147+9del Multiple submitters
- c.349+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.436+1G>A Multiple submitters
- c.436+2T>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.663+1G>A Multiple submitters
- c.663+1G>T Multiple submitters hypophosphatemic rickets
- c.663+2T>A Multiple submitters
- c.733-2A>T Multiple submitters
- c.849+1G>A Multiple submitters PHEX-related disorder
- c.849+1G>T Multiple submitters PHEX-related disorder
- c.933+2T>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.934-1G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala242fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala295fs Multiple submitters
- p.Ala630fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala720Thr Multiple submitters PHEX-related disorder ⚠
- p.Ala730fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg20Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg291Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg369Ter Multiple submitters PHEX-related disorder
- p.Arg549Pro Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg549Ter Multiple submitters PHEX-related disorder
- p.Arg567Ter Multiple submitters Hypophosphataemia or rickets
- p.Arg651Pro Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg664Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg702Ter Multiple submitters PHEX-related disorder
- p.Arg747Ter Multiple submitters PHEX-related disorder
- p.Asn620delinsAspTer Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Asn647delinsArgTer Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Asn647Ter Multiple submitters
- p.Asp152fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys406Arg Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys406Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys733Ser Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys77Phe Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln133Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln189Ter Multiple submitters PHEX-related disorder
- p.Gln224Ter Multiple submitters
- p.Gln311Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln383Ter Multiple submitters Hypophosphataemia or rickets
- p.Gln394Ter Multiple submitters
- p.Gln402Ter Multiple submitters PHEX-related disorder
- p.Gln48Ter Multiple submitters PHEX-related disorder
- p.Gln515Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln51Ter Multiple submitters
- p.Gln621Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln682Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Glu10fs Multiple submitters
- p.Glu217Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Glu437fs Multiple submitters
- p.Glu437Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Glu609Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Glu669fs Multiple submitters PHEX-related disorder
- p.Gly102Val Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gly585Arg Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gly6fs Multiple submitters Hypophosphataemia or rickets
- p.His329fs Multiple submitters hypophosphatemic rickets
- p.Leu438fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Leu45Ter Multiple submitters
- p.Lys468Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Lys595Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Phe409fs Multiple submitters PHEX-related disorder
- p.Phe611fs Multiple submitters
- p.Pro168Leu Multiple submitters
- p.Pro401fs Multiple submitters hypophosphatemic rickets
- p.Pro534Leu Multiple submitters hypophosphatemic rickets
- p.Ser228fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Thr509fs Multiple submitters
- p.Thr563fs Multiple submitters PHEX-related disorder
- p.Trp106Ter Multiple submitters PHEX-related disorder
- p.Trp314Ter Multiple submitters
- p.Trp368Ter Multiple submitters PHEX-related disorder
- p.Trp386Ter Multiple submitters
- p.Trp403Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Trp456Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Trp520fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Trp530Ter Multiple submitters
- p.Trp561Ter Multiple submitters
- p.Trp602Ter Multiple submitters
- p.Trp627Ter Multiple submitters
- p.Trp660Ter Multiple submitters hypophosphatemic rickets
- p.Trp749Arg Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr207Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr593Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr622fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr626fs Multiple submitters
- p.Tyr657Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr688fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr688Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Val576_His580delinsAsp Multiple submitters
- p.Val70fs Multiple submitters PHEX-related disorder
- p.Val74fs Multiple submitters
- p.Tyr593Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Trp602Ter Multiple submitters
- p.Phe611fs Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1079+1G>T Single submitter
- c.1080-687A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1173+1del Single submitter
- c.1173+1G>C Single submitter
- c.1173+1G>T Single submitter
- c.1173+2T>A Single submitter
- c.1173+5G>T Single submitter
- c.1174-1G>C Single submitter
- c.1174-2A>T Single submitter
- c.119-3C>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1302+1G>C Single submitter
- c.1302+2T>A Single submitter X-linked dominant hypophosphatemic rickets
- c.1303-1G>A Single submitter
- c.1303-1G>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1303-1G>T Single submitter PHEX-related disorder
- c.1390_1404+1del Single submitter
- c.1404+1G>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1404+2_1404+6del Single submitter
- c.1482+1G>T Single submitter
- c.1482+2T>G Single submitter
- c.1483-1G>T Single submitter
- c.1483-2A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1586+1G>C Single submitter
- c.1586+1G>T Single submitter
- c.1586+2T>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1586+3G>T Single submitter
- c.1587-1G>T Single submitter
- c.1645+1G>T Single submitter
- c.1645+2T>G Single submitter
- c.1645+5G>A Single submitter
- c.1646-1G>C Single submitter
- c.1646-2A>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1646-2del Single submitter
- c.1700+1G>C Single submitter
- c.1700+5G>C Single submitter
- c.1701-1G>C Single submitter
- c.1701-2A>C Single submitter
- c.1701-2A>G Single submitter
- c.1768+2del Single submitter
- c.1768+2T>G Single submitter
- c.1769-1G>A Single submitter X-linked dominant hypophosphatemic rickets
- c.1769-1G>T Single submitter X-linked dominant hypophosphatemic rickets
- c.1769-2A>G Single submitter
- c.187+1G>T Single submitter X-linked dominant hypophosphatemic rickets
- c.187+2T>A Single submitter
- c.188-1G>A Single submitter
- c.1899+2113_1957del Single submitter X-linked dominant hypophosphatemic rickets
- c.1899+2T>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1899+2T>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1965+1del Single submitter hypophosphatemic rickets
- c.1966-2A>C Single submitter
- c.1966-2A>G Single submitter
- c.2070+1G>T Single submitter
- c.2071-1G>T Single submitter
- c.2071-2_2072del Single submitter
- c.2071-94_*522del Single submitter X-linked dominant hypophosphatemic rickets
- c.2147_2147+3del Single submitter
- c.2147+2T>C Single submitter
- c.2147+2T>G Single submitter X-linked dominant hypophosphatemic rickets
- c.2147+3A>T Single submitter X-linked dominant hypophosphatemic rickets
- c.2148-1G>A Single submitter
- c.2148-1G>C Single submitter
- c.2148-2A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.2148-2A>T Single submitter PHEX-related disorder
- c.349+1G>T Single submitter
- c.349+2T>A Single submitter
- c.349+2T>C Single submitter
- c.350-1G>C Single submitter
- c.350-1G>T Single submitter
- c.350-2A>G Single submitter
- c.436_436+1del Single submitter PHEX-related disorder
- c.436+2_436+3del Single submitter
- c.436+4A>T Single submitter X-linked dominant hypophosphatemic rickets
- c.436+6T>C Single submitter X-linked dominant hypophosphatemic rickets
- c.437-1G>C Single submitter
- c.437-2A>C Single submitter
- c.437-2A>G Single submitter
- c.663+1_663+45del Single submitter
- c.663+1del Single submitter
- c.663+2T>C Single submitter
- c.664-1G>T Single submitter X-linked dominant hypophosphatemic rickets
- c.664-2A>G Single submitter
- c.664-77_1079+71dup Single submitter X-linked dominant hypophosphatemic rickets
- c.665_674del Single submitter hypophosphatemic rickets
- c.732+3_732+6del Single submitter X-linked dominant hypophosphatemic rickets
- c.732+5G>C Single submitter X-linked dominant hypophosphatemic rickets
- c.733-156_802del Single submitter
- c.733-2A>C Single submitter
- c.847_849+2del Single submitter
- c.849_849+2del Single submitter X-linked dominant hypophosphatemic rickets
- c.849+1G>C Single submitter PHEX-related disorder
- c.933+1G>A Single submitter
- c.934-1G>A Single submitter
- c.934-3_934-1delinsTCA Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala153fs Single submitter
- p.Ala225fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala257fs Single submitter
- p.Ala262fs Single submitter
- p.Ala363Pro Single submitter
- p.Ala413Pro Single submitter ⚠
- p.Ala445fs Single submitter Hypophosphataemia or rickets
- p.Ala459Glu Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ala471_Leu473delinsVal Single submitter
- p.Ala573fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala573Pro Single submitter
- p.Ala63fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala645fs Single submitter
- p.Ala700fs Single submitter
- p.Ala701fs Single submitter
- p.Ala709fs Single submitter
- p.Arg125Ter Single submitter
- p.Arg161fs Single submitter
- p.Arg161Pro Single submitter
- p.Arg17Ter Single submitter
- p.Arg183fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg195fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg205fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg276Ter Single submitter hypophosphatemic rickets
- p.Arg380fs Single submitter
- p.Arg381fs Single submitter
- p.Arg443fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg463fs Single submitter
- p.Arg510Pro Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg638fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg651fs Single submitter
- p.Arg658fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg702fs Single submitter
- p.Arg741Ter Single submitter
- p.Arg747fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn110fs Single submitter
- p.Asn290fs Single submitter
- p.Asn505_Arg510del Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn588Ser Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Asn589fs Single submitter
- p.Asn596fs Single submitter
- p.Asn598fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn620fs Single submitter
- p.Asn643fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn662fs Single submitter
- p.Asn681fs Single submitter
- p.Asn71fs Single submitter
- p.Asn740fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Asp211fs Single submitter
- p.Asp323fs Single submitter
- p.Asp332fs Single submitter
- p.Asp349fs Single submitter
- p.Asp404fs Single submitter
- p.Asp424fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Asp448fs Single submitter
- p.Asp646Gly Single submitter
- p.Asp663delinsGluTer Single submitter X-linked dominant hypophosphatemic rickets
- p.Asp663fs Single submitter
- p.Asp663Ter Single submitter
- p.Cys142Arg Single submitter
- p.Cys142fs Single submitter
- p.Cys142Phe Single submitter ⚠
- p.Cys142Ter Single submitter
- p.Cys406Tyr Single submitter X-linked dominant hypophosphatemic rickets
- p.Cys54fs Single submitter
- p.Cys54Ter Single submitter
- p.Cys59Ter Single submitter
- p.Cys733Arg Single submitter
- p.Cys733Ter Single submitter
- p.Cys746Ter Single submitter
- p.Cys746Tyr Single submitter
- p.Cys77Tyr Single submitter
- p.Cys85Arg Single submitter X-linked dominant hypophosphatemic rickets ⚠
Pathogenic/Likely pathogenic 62
- c.118+1G>A Multiple submitters PHEX-related disorder
- c.1302+1G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1482+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1482+2T>A Multiple submitters PHEX-related disorder
- c.1482+3A>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1586+5G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1645+1G>A Multiple submitters PHEX-related disorder
- c.1700+5G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.188-1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1900-1G>A Multiple submitters
- c.1965+1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1966-1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1966-1G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.2070+1G>A Multiple submitters
- c.349+1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.664-1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.732+1G>A Multiple submitters PHEX-related disorder
- c.732+1G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.733-1G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- c.733-1G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.933+1G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.934-2A>G Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala469Glu Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala573Asp Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala653Asp Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala84Pro Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg567Pro Multiple submitters PHEX-related disorder ⚠
- p.Asn723_Phe724insTer Multiple submitters
- p.Asp349Gly Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Asp646His Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys693Ser Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys693Tyr Multiple submitters PHEX-related disorder
- p.Cys733Phe Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys733Tyr Multiple submitters
- p.Cys85Phe Multiple submitters PHEX-related disorder ⚠
- p.Cys85Ser Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Gln197= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln706fs Multiple submitters
- p.Gln714Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln728Ter Multiple submitters PHEX-related disorder
- p.Gly553Glu Multiple submitters
- p.Gly572Asp Multiple submitters PHEX-related disorder
- p.Gly572Ser Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gly572Val Multiple submitters
- p.Gly575Glu Multiple submitters PHEX-related disorder
- p.Gly579Arg Multiple submitters PHEX-related disorder
- p.Gly667Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.His584Tyr Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Leu275Pro Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Leu650Pro Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Lys221= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Lys320del Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Met296fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Phe731fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ser141Phe Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Thr509Pro Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Trp167Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Trp520Ter Multiple submitters Hypophosphataemia or rickets
- p.Trp88Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr346Cys Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr625Ter Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Tyr657Cys Multiple submitters hypophosphatemic rickets
Likely pathogenic 133
- c.1173+5G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala573Val Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala645Thr Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala720Glu Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys693Arg Multiple submitters ⚠
- p.Cys693Trp Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys746Arg Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Cys746Phe Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gly575Arg Multiple submitters
- p.Gly579Glu Multiple submitters PHEX-related disorder
- p.His580Arg Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Phe560fs Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ter750Tyr Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1079+1del Single submitter
- c.1080-1_1084del Single submitter
- c.1173+2dup Single submitter PHEX-related disorder
- c.1173+5G>A Single submitter
- c.1174-10_1174-1del Single submitter X-linked dominant hypophosphatemic rickets
- c.118+2del Single submitter
- c.119-2A>G Single submitter PHEX-related disorder
- c.1302+4_1302+10del Single submitter
- c.1404+2T>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1405-2_1415del Single submitter
- c.1405-3739_1459del Single submitter
- c.1445_1482+235del Single submitter
- c.1482+1del Single submitter X-linked dominant hypophosphatemic rickets
- c.1586+5G>C Single submitter
- c.1586+6T>G Single submitter
- c.1587-2A>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1627_1645+12del Single submitter
- c.1645+4A>G Single submitter
- c.1645+5G>C Single submitter
- c.1645+6T>C Single submitter
- c.1701-1del Single submitter
- c.1767_1768+3del Single submitter
- c.1768+1del Single submitter
- c.1768+2dup Single submitter
- c.1768+3A>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1768+5G>T Single submitter
- c.1863_1899+364del Single submitter
- c.187+1G>C Single submitter X-linked dominant hypophosphatemic rickets
- c.188-2A>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1899+5G>C Single submitter Hypophosphataemia or rickets
- c.1966-3_1971dup Single submitter
- c.1966-9_1966-7del Single submitter X-linked dominant hypophosphatemic rickets
- c.2061_2070+7del Single submitter
- c.2070+601C>T Single submitter X-linked dominant hypophosphatemic rickets
- c.2147+1197A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.2148-3C>G Single submitter
- c.289_349+836delinsAAGATATGCCT Single submitter
- c.349+2del Single submitter
- c.436+1G>C Single submitter
- c.436+3G>C Single submitter
- c.436+3G>T Single submitter
- c.436+5G>C Single submitter
- c.436+6T>A Single submitter
- c.664-2A>C Single submitter
- c.850-10_858del Single submitter
- p.Ala257Asp Single submitter
- p.Ala445Asp Single submitter
- p.Ala445Pro Single submitter
- p.Ala494fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala62Lys Single submitter PHEX-related disorder
- p.Ala653Pro Single submitter
- p.Ala689Pro Single submitter
- p.Arg166fs Single submitter PHEX-related disorder
- p.Arg567= Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg747Pro Single submitter
- p.Asn216fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn364Lys Single submitter PHEX-related disorder
- p.Asn92fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Cys142Tyr Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Cys406Phe Single submitter X-linked dominant hypophosphatemic rickets
- p.Cys617Phe Single submitter
- p.Cys77Ser Single submitter hypophosphatemic rickets
- p.Gln547Pro Single submitter
- p.Gln621fs Single submitter PHEX-related disorder
- p.Gln666fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Glu217fs Single submitter PHEX-related disorder
- p.Glu283fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Glu337fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Glu440Ter Single submitter X-linked dominant hypophosphatemic rickets
- p.Glu652_Arg655dup Single submitter X-linked dominant hypophosphatemic rickets
- p.Gly572Ala Single submitter
- p.Gly572Cys Single submitter X-linked dominant hypophosphatemic rickets
- p.Gly579Val Single submitter
- p.Gly590Ser Single submitter PHEX-related disorder
- p.Gly649Cys Single submitter Hypophosphataemia or rickets
- p.Gly719Ala Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.His580Asp Single submitter
- p.Ile204Asn Single submitter ⚠
- p.Ile281Arg Single submitter X-linked dominant hypophosphatemic rickets
- p.Ile322fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Ile574Lys Single submitter
- p.Ile577fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Leu156Arg Single submitter
- p.Leu160Pro Single submitter
- p.Leu305Pro Single submitter
- p.Leu378Pro Single submitter
- p.Leu492fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Leu650Arg Single submitter
- p.Leu683His Single submitter hypophosphatemic rickets
- p.Leu683Pro Single submitter PHEX-related disorder
- p.Lys359fs Single submitter PHEX-related disorder
- p.Lys468fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Lys496fs Single submitter PHEX-related disorder
- p.Met253Ile Single submitter
- p.Met98fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Phe731Cys Single submitter
- p.Pro558Arg Single submitter
- p.Pro671Thr Single submitter ⚠
- p.Pro713fs Single submitter
- p.Ser264fs Single submitter PHEX-related disorder
- p.Ser687Arg Single submitter
- p.Ser695_Tyr696insTer Single submitter X-linked dominant hypophosphatemic rickets
- p.Ser73fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Ter750Gln Single submitter
- p.Ter750Leu Single submitter
- p.Ter750Trp Single submitter X-linked dominant hypophosphatemic rickets
- p.Thr615Pro Single submitter
- p.Thr677fs Single submitter X-linked dominant hypophosphatemic rickets
- p.Trp368Arg Single submitter X-linked dominant hypophosphatemic rickets
- p.Trp456Gly Single submitter
- p.Trp749fs Single submitter
- p.Tyr657Asn Single submitter
- p.Val254del Single submitter
- p.Val439Gly Single submitter hypophosphatemic rickets
- p.Val472Asp Single submitter
- p.Val717Gly Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala689Val No assertion criteria PHEX-related disorder
- p.Cys59Ser No assertion criteria X-linked dominant hypophosphatemic rickets
- p.Gln394fs No assertion criteria hypophosphatemia
- p.Tyr235Asn No assertion criteria X-linked dominant hypophosphatemic rickets
Conflicting classifications of pathogenicity 65
- c.118+7G>T Single submitter X-linked dominant hypophosphatemic rickets
- c.1586+3_1586+6del Single submitter PHEX-related disorder
- c.1645+4A>C Single submitter PHEX-related disorder
- c.1768+173A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.1768+5G>A Single submitter X-linked dominant hypophosphatemic rickets
- c.2070+5G>C Single submitter
- c.436+4A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.436+5G>A Single submitter X-linked dominant hypophosphatemic rickets
- c.436+5G>T Single submitter X-linked dominant hypophosphatemic rickets
- c.732+5G>A Single submitter X-linked dominant hypophosphatemic rickets
- c.849+1268G>T Single submitter PHEX-related disorder
- c.850-2A>G Single submitter X-linked dominant hypophosphatemic rickets ⚠
- c.*227C>G Single submitter X-linked dominant hypophosphatemic rickets
- c.*231A>G Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala230= Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala469Val Single submitter Inborn genetic diseases
- p.Ala62Val Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ala730Ser Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ala84Asp Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Arg161Gln Single submitter Inborn genetic diseases ⚠
- p.Arg205Cys Single submitter Inborn genetic diseases ⚠
- p.Arg342= Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg342His Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Arg381Cys Single submitter Inborn genetic diseases ⚠
- p.Arg716Thr Single submitter ⚠
- p.Arg82Trp Single submitter Inborn genetic diseases ⚠
- p.Asn110del Single submitter PHEX-related disorder
- p.Asn200Asp Single submitter Inborn genetic diseases ⚠
- p.Asp313Asn Single submitter Inborn genetic diseases ⚠
- p.Asp448= Single submitter
- p.Asp458= Single submitter X-linked dominant hypophosphatemic rickets
- p.Cys142Ser Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Gln133Glu Single submitter Inborn genetic diseases ⚠
- p.Gln621Pro Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Glu453Asp Single submitter X-linked dominant hypophosphatemic rickets
- p.Glu4Gln Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Glu669_Leu672del Single submitter X-linked dominant hypophosphatemic rickets
- p.Gly102Trp Single submitter ⚠
- p.Gly649Asp Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.His218Arg Single submitter Inborn genetic diseases ⚠
- p.His690Asn Single submitter Inborn genetic diseases ⚠
- p.Ile148= Single submitter X-linked dominant hypophosphatemic rickets
- p.Leu305Arg Single submitter PHEX-related disorder ⚠
- p.Leu438Ser Single submitter ⚠
- p.Leu569Pro Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Leu673Pro Single submitter ⚠
- p.Lys319= Single submitter X-linked dominant hypophosphatemic rickets
- p.Lys511Thr Single submitter ⚠
- p.Met370Arg Single submitter ⚠
- p.Phe559Leu Single submitter ⚠
- p.Phe654Ile Single submitter ⚠
- p.Pro401Leu Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ser209Cys Single submitter Inborn genetic diseases ⚠
- p.Thr35Met Single submitter Inborn genetic diseases ⚠
- p.Thr461Lys Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Thr639= Single submitter
- p.Thr738= Single submitter X-linked dominant hypophosphatemic rickets
- p.Thr738Met Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Trp167Arg Single submitter ⚠
- p.Trp456Arg Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Trp456Cys Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Val111del Single submitter
- p.Val231Met Single submitter Inborn genetic diseases ⚠
- p.Val442Phe Single submitter ⚠
- p.Val506Ile Single submitter X-linked dominant hypophosphatemic rickets ⚠
Benign 93
- c.1079+213T>C Multiple submitters
- c.1079+279C>T Multiple submitters
- c.1080-73C>T Multiple submitters
- c.1302+277G>A Multiple submitters
- c.1482+271G>A Multiple submitters
- c.1483-211G>T Multiple submitters
- c.1645+110G>T Multiple submitters
- c.1645+169C>T Multiple submitters
- c.1645+174T>G Multiple submitters
- c.1645+212A>G Multiple submitters
- c.1769-10C>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.188-47C>T Multiple submitters
- c.1899+91G>A Multiple submitters
- c.1966-11T>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1966-302C>T Multiple submitters
- c.437-208A>G Multiple submitters
- c.664-124G>C Multiple submitters
- c.664-18C>T Multiple submitters
- c.933+41A>G Multiple submitters
- c.-33C>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.-90A>G Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Asn505= Multiple submitters
- p.Gln402= Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1174-218T>G Single submitter
- c.1174-286G>A Single submitter
- c.1174-307T>C Single submitter
- c.118+286del Single submitter
- c.118+317T>C Single submitter
- c.118+9A>G Single submitter
- c.119-10_119-9insC Single submitter
- c.119-4dup Single submitter
- c.1302+11_1302+16del Single submitter
- c.1404+28del Single submitter
- c.1483-312= Single submitter
- c.1586+287G>T Single submitter
- c.1646-265A>G Single submitter
- c.1700+175dup Single submitter
- c.1701-207A>G Single submitter
- c.1701-341T>G Single submitter
- c.1768+10G>A Single submitter
- c.1768+9C>T Single submitter
- c.1769-173T>C Single submitter
- c.188-291T>G Single submitter
- c.1899+304T>C Single submitter
- c.1900-121_1900-120insATGA Single submitter
- c.1900-122_1900-119dup Single submitter
- c.1900-20del Single submitter
- c.1900-232A>G Single submitter
- c.1965+6C>T Single submitter
- c.1966-20TCT[3] Single submitter
- c.2070+251_2070+254dup Single submitter
- c.2070+317G>A Single submitter
- c.2070+325C>T Single submitter
- c.2147+195T>C Single submitter
- c.2148-179A>T Single submitter
- c.2148-302A>G Single submitter
- c.350-13T>C Single submitter
- c.663+14C>G Single submitter
- c.733-189G>A Single submitter
- c.733-6T>A Single submitter
- c.849+1049T>C Single submitter
- c.849+128G>A Single submitter
- c.849+18dup Single submitter
- c.933+10_933+15dup Single submitter
- c.933+15T>C Single submitter
- c.933+286G>A Single submitter
- c.934-15T>C Single submitter
- c.934-217A>C Single submitter
- c.-126C>G Single submitter X-linked dominant hypophosphatemic rickets
- c.*305G>A Single submitter X-linked dominant hypophosphatemic rickets
- c.*361T>C Single submitter X-linked dominant hypophosphatemic rickets
- c.*388A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.*58C>T Single submitter X-linked dominant hypophosphatemic rickets
- p.Arg108= Single submitter
- p.Arg127Trp Single submitter ⚠
- p.Arg651Gln Single submitter ⚠
- p.Arg82Gln Single submitter
- p.Asn598= Single submitter
- p.Gln383= Single submitter
- p.Glu606= Single submitter
- p.Gly395= Single submitter
- p.Gly649= Single submitter
- p.Ile410Met Single submitter
- p.Lys150= Single submitter
- p.Phe518Leu Single submitter ⚠
- p.Pro735= Single submitter
- p.Ser122= Single submitter
- p.Ser373= Single submitter
- p.Ser542= Single submitter
- p.Thr193= Single submitter
- p.Val25Met Single submitter
- p.Val343Ile Single submitter
- p.Val717= Single submitter
Benign/Likely benign 35
- c.1404+28dup Multiple submitters
- c.1405-4del Multiple submitters
- c.1482+16A>C Multiple submitters
- c.1483-7T>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1645+8C>T Multiple submitters
- c.1769-20C>T Multiple submitters
- c.187+9_187+10del Multiple submitters
- c.663+8G>A Multiple submitters
- c.849+3A>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.-108A>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.*218A>C Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala147= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Arg127Gln Multiple submitters
- p.Asn301= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Asn301His Multiple submitters ⚠
- p.Asp211Asn Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Asp332= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gln133= Multiple submitters
- p.Glu96= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Gly28Ser Multiple submitters X-linked dominant hypophosphatemic rickets
- p.His487= Multiple submitters
- p.Leu160= Multiple submitters
- p.Lys280= Multiple submitters
- p.Phe83= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Pro168= Multiple submitters
- p.Pro479= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ser163= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ser336= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Thr129= Multiple submitters
- p.Thr35= Multiple submitters
- p.Thr461= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Thr679= Multiple submitters
- p.Val169Met Multiple submitters
- p.Val179= Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Val27= Multiple submitters X-linked dominant hypophosphatemic rickets
Likely benign 141
- c.1587-16G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1646-10C>T Multiple submitters
- c.1899+8C>T Multiple submitters
- c.1900-6_1900-3dup Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1966-10C>G Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1966-36G>A Multiple submitters
- c.2148-48T>G Multiple submitters
- c.*48G>A Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala147Val Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Asn732Lys Multiple submitters
- p.Leu236= Multiple submitters
- p.Met308Val Multiple submitters
- p.Pro534= Multiple submitters
- p.Ser140= Multiple submitters X-linked dominant hypophosphatemic rickets
- c.1080-173G>A Single submitter
- c.1174-11A>G Single submitter
- c.1174-11A>T Single submitter
- c.1174-8T>C Single submitter
- c.1174-9C>G Single submitter
- c.119-10_119-9del Single submitter
- c.119-17G>A Single submitter
- c.1303-10T>A Single submitter
- c.1404+7A>C Single submitter
- c.1405-12T>C Single submitter
- c.1586+14A>C Single submitter
- c.1586+15A>G Single submitter
- c.1586+18A>T Single submitter
- c.1587-14T>C Single submitter
- c.1587-266T>A Single submitter
- c.1645+11G>T Single submitter
- c.1645+187dup Single submitter
- c.1645+302T>C Single submitter
- c.1646-19C>T Single submitter
- c.1700+264C>T Single submitter
- c.1701-17A>G Single submitter
- c.1701-5C>T Single submitter
- c.1768+19T>C Single submitter
- c.1768+9C>A Single submitter
- c.187+12T>C Single submitter
- c.187+223G>A Single submitter
- c.188-17A>T Single submitter
- c.188-19T>A Single submitter
- c.1900-11C>A Single submitter
- c.1900-12T>C Single submitter
- c.1900-211G>A Single submitter
- c.1900-38G>T Single submitter
- c.1900-7C>T Single submitter
- c.1965+10G>A Single submitter
- c.1965+14C>A Single submitter
- c.1965+7G>A Single submitter
- c.1966-19C>T Single submitter
- c.2070+1_2070+9dup Single submitter
- c.2070+10C>T Single submitter
- c.2070+38C>T Single submitter
- c.2071-19G>A Single submitter
- c.2071-4C>G Single submitter
- c.2071-5_2071-4delinsAG Single submitter
- c.2071-5T>A Single submitter
- c.2071-9C>T Single submitter
- c.2147+12A>C Single submitter
- c.2147+13A>G Single submitter
- c.2147+14T>C Single submitter
- c.2147+170A>G Single submitter
- c.2148-335C>T Single submitter
- c.2148-8T>G Single submitter
- c.2148-9G>A Single submitter
- c.349+11139T>G Single submitter
- c.349+11159A>G Single submitter
- c.349+170A>G Single submitter
- c.350-10A>T Single submitter
- c.350-18C>G Single submitter
- c.436+19T>G Single submitter
- c.436+230G>C Single submitter
- c.437-17T>C Single submitter
- c.437-5T>C Single submitter
- c.663+11G>T Single submitter
- c.663+13C>A Single submitter
- c.663+20A>G Single submitter
- c.664-20_664-19del Single submitter
- c.732+17T>G Single submitter
- c.849+18A>G Single submitter
- c.850-13C>T Single submitter
- c.850-15A>C Single submitter
- c.850-169T>C Single submitter
- c.-11C>T Single submitter
- p.Ala15Gly Single submitter
- p.Ala225Thr Single submitter
- p.Ala22Ser Single submitter
- p.Ala257= Single submitter
- p.Ala413= Single submitter
- p.Ala445= Single submitter
- p.Ala500= Single submitter
- p.Ala524= Single submitter
- p.Ala552= Single submitter
- p.Arg126= Single submitter
- p.Arg166Cys Single submitter ⚠
- p.Arg342Cys Single submitter ⚠
- p.Arg567Gln Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Asn16Ser Single submitter
- p.Asn338= Single submitter
- p.Asn643= Single submitter
- p.Asp517= Single submitter
- p.Cys746= Single submitter
- p.Glu490Asp Single submitter
- p.Glu669= Single submitter
- p.Gly12= Single submitter
- p.Gly441= Single submitter
- p.Gly636= Single submitter
- p.Gly648= Single submitter
- p.Gly87Val Single submitter X-linked dominant hypophosphatemic rickets
- p.His158= Single submitter
- p.Ile495Val Single submitter X-linked dominant hypophosphatemic rickets
- p.Ile60= Single submitter
- p.Ile644Val Single submitter ⚠
- p.Leu115= Single submitter
- p.Leu315= Single submitter
- p.Leu354= Single submitter
- p.Lys251= Single submitter
- p.Met98Lys Single submitter
- p.Phe312= Single submitter
- p.Phe560= Single submitter
- p.Pro105= Single submitter
- p.Pro310= Single submitter
- p.Pro344= Single submitter
- p.Pro735Ser Single submitter
- p.Pro95= Single submitter
- p.Ser100Asn Single submitter
- p.Ser181= Single submitter
- p.Ser306= Single submitter
- p.Ser544= Single submitter
- p.Thr193Met Single submitter
- p.Thr19Asn Single submitter
- p.Thr605= Single submitter
- p.Tyr139= Single submitter
- p.Tyr250= Single submitter
- p.Tyr478= Single submitter
- p.Tyr593= Single submitter
- p.Tyr622= Single submitter
- p.Tyr688= Single submitter
- p.Val24= Single submitter
- p.Ile375= No assertion criteria PHEX-related disorder
Uncertain significance 270
- c.1646-3T>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.437-3C>G Multiple submitters
- c.933+5G>C Multiple submitters X-linked dominant hypophosphatemic rickets
- c.-10G>T Multiple submitters X-linked dominant hypophosphatemic rickets
- p.Ala135Thr Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Ala524Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg166His Multiple submitters Inborn genetic diseases ⚠
- p.Arg325Thr Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Arg443His Multiple submitters Inborn genetic diseases ⚠
- p.Arg510His Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Arg651Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg697Lys Multiple submitters Inborn genetic diseases
- p.Asn680Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn718Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp211Glu Multiple submitters ⚠
- p.Asp485Gly Multiple submitters ⚠
- p.Asp501Asn Multiple submitters ⚠
- p.Asp501Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln714Arg Multiple submitters ⚠
- p.Glu130Lys Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Glu337Lys Multiple submitters ⚠
- p.Glu670Val Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Gly316Val Multiple submitters ⚠
- p.Ile644Thr Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Leu118Phe Multiple submitters Inborn genetic diseases
- p.Leu37Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu399Ser Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Lys251Glu Multiple submitters ⚠
- p.Met296Thr Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Met483Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro344Leu Multiple submitters Inborn genetic diseases
- p.Pro698Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro713His Multiple submitters ⚠
- p.Pro76Ala Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Ser607Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser695Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr129Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr461Met Multiple submitters ⚠
- p.Thr605Ala Multiple submitters Inborn genetic diseases ⚠
- p.Trp603Ser Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Tyr626His Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Val321Phe Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Val371Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val476Ile Multiple submitters X-linked dominant hypophosphatemic rickets ⚠
- p.Val525Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val578_Gly579insVal Multiple submitters
- c.1079+5G>A Single submitter X-linked dominant hypophosphatemic rickets
- c.1080-10_1080-9delinsTA Single submitter
- c.1174-14A>G Single submitter
- c.1174-3C>G Single submitter X-linked dominant hypophosphatemic rickets
- c.118+20C>T Single submitter X-linked dominant hypophosphatemic rickets
- c.1302+4A>C Single submitter Incidental Discovery
- c.1303-3T>C Single submitter
- c.1404+10_1404+11delinsAT Single submitter
- c.1482+2_1482+3insTT Single submitter
- c.1483-16G>A Single submitter Hypophosphataemia or rickets
- c.1586+14A>T Single submitter X-linked dominant hypophosphatemic rickets
- c.1645+3G>C Single submitter X-linked dominant hypophosphatemic rickets
- c.1645+6T>A Single submitter
- c.1700+5G>T Single submitter
- c.1768+3A>T Single submitter
- c.1768+4_1768+7del Single submitter
- c.1769-6_1784dup Single submitter
- c.187+3_187+6del Single submitter
- c.1899+3G>C Single submitter
- c.1899+6T>G Single submitter
- c.1965+3A>G Single submitter
- c.1965+3A>T Single submitter X-linked dominant hypophosphatemic rickets
- c.1965+3del Single submitter
- c.1965+6C>A Single submitter
- c.1966-8_2006dup Single submitter
- c.2070+5G>A Single submitter
- c.2147+1093T>A Single submitter X-linked dominant hypophosphatemic rickets
- c.2147+4A>C Single submitter
- c.2148-10C>A Single submitter X-linked dominant hypophosphatemic rickets
- c.2148-11T>A Single submitter X-linked dominant hypophosphatemic rickets
- c.2148-18T>A Single submitter X-linked dominant hypophosphatemic rickets
- c.349+2dup Single submitter
- c.663+6A>G Single submitter
- c.664-3C>G Single submitter
- c.732+3A>T Single submitter
- c.732+4_732+5insCA Single submitter
- c.850-3C>T Single submitter
- c.934-16_934-12delinsCTACCTAACTGAGAT Single submitter
- c.-126C>A Single submitter X-linked dominant hypophosphatemic rickets
- c.-429T>C Single submitter
- c.*339A>G Single submitter X-linked dominant hypophosphatemic rickets
- c.*360A>C Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala(1965_2071 Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala135Asp Single submitter ⚠
- p.Ala147Gly Single submitter ⚠
- p.Ala22Phe Single submitter
- p.Ala242Gly Single submitter ⚠
- p.Ala242Thr Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala282Asp Single submitter ⚠
- p.Ala295Gly Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ala465Asp Single submitter ⚠
- p.Ala471Thr Single submitter Inborn genetic diseases ⚠
- p.Ala494Gly Single submitter ⚠
- p.Ala500Asn Single submitter X-linked dominant hypophosphatemic rickets
- p.Ala552Val Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ala573Thr Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ala62= Single submitter
- p.Ala62Glu Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala630Val Single submitter Inborn genetic diseases
- p.Ala63Ser Single submitter ⚠
- p.Ala656Asp Single submitter ⚠
- p.Ala689Gly Single submitter ⚠
- p.Ala700Thr Single submitter ⚠
- p.Ala701Pro Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg161Trp Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Arg205His Single submitter ⚠
- p.Arg20Gln Single submitter ⚠
- p.Arg276Lys Single submitter ⚠
- p.Arg381His Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Arg385Lys Single submitter ⚠
- p.Arg443Pro Single submitter ⚠
- p.Arg510Cys Single submitter
- p.Arg591Gly Single submitter ⚠
- p.Arg655= Single submitter
- p.Arg658_Ile661dup Single submitter
- p.Arg82Leu Single submitter ⚠
- p.Asn454Thr Single submitter Inborn genetic diseases
- p.Asn484Lys Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn505Thr Single submitter ⚠
- p.Asn546Lys Single submitter ⚠
- p.Asn647= Single submitter
- p.Asn647Ile Single submitter ⚠
- p.Asn647Ser Single submitter ⚠
- p.Asn681del Single submitter
- p.Asn694Asp Single submitter X-linked dominant hypophosphatemic rickets
- p.Asn71Tyr Single submitter ⚠
- p.Asn736Ile Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Asn736Ser Single submitter ⚠
- p.Asp234Ala Single submitter ⚠
- p.Asp234Asn Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Asp234Gly Single submitter ⚠
- p.Asp255Val Single submitter ⚠
- p.Asp332Tyr Single submitter ⚠
- p.Asp458Tyr Single submitter ⚠
- p.Asp501_Tyr502del Single submitter
- p.Asp600His Single submitter ⚠
- p.Asp600Tyr Single submitter ⚠
- p.Asp646Tyr Single submitter ⚠
- p.Cys59Phe Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Cys617Arg Single submitter ⚠
- p.Gln197Lys Single submitter ⚠
- p.Gln224His Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Gln224Lys Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Gln383Arg Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu289Lys Single submitter ⚠
- p.Glu499Gly Single submitter ⚠
- p.Glu670Lys Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Glu699Val Single submitter ⚠
- p.Glu96Lys Single submitter
- p.Gly178Trp Single submitter
- p.Gly196Val Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Gly261Val Single submitter ⚠
- p.Gly43Ala Single submitter Inborn genetic diseases ⚠
- p.Gly641Glu Single submitter Inborn genetic diseases ⚠
- p.Gly649Val Single submitter hypophosphatemic rickets ⚠
- p.Gly742Val Single submitter
- p.Gly87= Single submitter X-linked dominant hypophosphatemic rickets
- p.His269Asp Single submitter Inborn genetic diseases ⚠
- p.His584Pro Single submitter ⚠
- p.His690Pro Single submitter ⚠
- p.Ile279Met Single submitter ⚠
- p.Ile284Leu Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ile302Val Single submitter ⚠
- p.Ile318Met Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ile410Val Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ile661Val Single submitter ⚠
- p.Ile66Asn Single submitter ⚠
- p.Ile66Met Single submitter PHEX-related disorder ⚠
- p.Ile707Thr Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ile94Val Single submitter Inborn genetic diseases ⚠
- p.Leu113Ile Single submitter Inborn genetic diseases ⚠
- p.Leu170Val Single submitter ⚠
- p.Leu236Val Single submitter ⚠
- p.Leu366_Val367insAspTyrLeu Single submitter
- p.Leu378Arg Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Leu507Pro Single submitter ⚠
- p.Leu507Val Single submitter ⚠
- p.Leu555Phe Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Leu668Ile Single submitter ⚠
- p.Leu672Pro Single submitter ⚠
- p.Leu686Pro Single submitter ⚠
- p.Lys319Thr Single submitter ⚠
- p.Lys360= Single submitter
- p.Lys466Gln Single submitter ⚠
- p.Lys468Glu Single submitter ⚠
- p.Lys511Asn Single submitter
- p.Lys595Arg Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Lys628Glu Single submitter ⚠
- p.Met143Val Single submitter ⚠
- p.Met421Ile Single submitter ⚠
- p.Met434Ile Single submitter ⚠
- p.Met435Arg Single submitter ⚠
- p.Met435Val Single submitter Inborn genetic diseases
- p.Met449Ile Single submitter ⚠
- p.Met618Arg Single submitter ⚠
- p.Met739_Ser745del Single submitter
- p.Phe347Ile Single submitter X-linked dominant hypophosphatemic rickets
- p.Phe409Leu Single submitter Inborn genetic diseases ⚠
- p.Phe684= Single submitter X-linked dominant hypophosphatemic rickets
- p.Phe684_Phe685del Single submitter
- p.Phe685del Single submitter
- p.Phe80Ser Single submitter ⚠
- p.Phe81Leu Single submitter ⚠
- p.Pro164Arg Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Pro344_Tyr346del Single submitter
- p.Pro566Arg Single submitter ⚠
- p.Pro674Gln Single submitter ⚠
- p.Ser140Leu Single submitter ⚠
- p.Ser163Pro Single submitter Inborn genetic diseases ⚠
- p.Ser172Phe Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Ser201Ala Single submitter Inborn genetic diseases ⚠
- p.Ser209Phe Single submitter
- p.Ser273Leu Single submitter Inborn genetic diseases ⚠
- p.Ser306Arg Single submitter X-linked dominant hypophosphatemic rickets
- p.Ser306Gly Single submitter Inborn genetic diseases ⚠
- p.Ser334Asn Single submitter Inborn genetic diseases ⚠
- p.Ser379Gly Single submitter
- p.Ser412Arg Single submitter Inborn genetic diseases ⚠
- p.Ser542Asn Single submitter ⚠
- p.Ser542Thr Single submitter ⚠
- p.Ser568Pro Single submitter ⚠
- p.Ser695Cys Single submitter ⚠
- p.Ter750Glu Single submitter X-linked dominant hypophosphatemic rickets
- p.Thr11= Single submitter
- p.Thr190Arg Single submitter
- p.Thr240Ala Single submitter Inborn genetic diseases ⚠
- p.Thr256Pro Single submitter ⚠
- p.Thr535Met Single submitter ⚠
- p.Thr5Ser Single submitter ⚠
- p.Thr605Ile Single submitter ⚠
- p.Thr639Asn Single submitter Inborn genetic diseases ⚠
- p.Trp749Ser Single submitter ⚠
- p.Tyr198Phe Single submitter ⚠
- p.Tyr207Cys Single submitter ⚠
- p.Tyr250His Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Tyr327Cys Single submitter ⚠
- p.Tyr327His Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Tyr622His Single submitter ⚠
- p.Tyr625Cys Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Tyr696Ser Single submitter
- p.Val103Ile Single submitter ⚠
- p.Val169Leu Single submitter
- p.Val258Met Single submitter ⚠
- p.Val274Ala Single submitter ⚠
- p.Val341del Single submitter
- p.Val371Asp Single submitter ⚠
- p.Val407Ala Single submitter
- p.Val407Gly Single submitter ⚠
- p.Val407Ile Single submitter ⚠
- p.Val40Gly Single submitter Inborn genetic diseases ⚠
- p.Val417Gly Single submitter
- p.Val417Ile Single submitter ⚠
- p.Val418Ala Single submitter X-linked dominant hypophosphatemic rickets ⚠
- p.Val423Ala Single submitter ⚠
- p.Val425_Tyr426insAspVal Single submitter
- p.Val442Asp Single submitter ⚠
- p.Val576Ile Single submitter ⚠
- p.Val578Leu Single submitter ⚠
- p.Ala363Val No assertion criteria X-linked dominant hypophosphatemic rickets ⚠
- p.Leu569Arg No assertion criteria PHEX-related disorder ⚠
- p.Ser623Asn No assertion criteria PHEX-related disorder ⚠