CYP27B1 — 548 ClinVar variants

All ClinVar germline CYP27B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

51 Pathogenic · 13 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 17 Conflicting · 4 Benign · 6 Benign/Likely benign · 239 Likely benign · 179 Uncertain significance

Full CYP27B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CYP27B1 p.Ala129Val Likely pathogenic Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Pro112Leu Pathogenic/Likely pathogenic Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Thr409Ile Pathogenic/Likely pathogenic Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.His441Tyr Likely pathogenic Single submitter
vitamin D-dependent rickets, type 1A

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CYP27B1 p.Ala181Ser Conflicting Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg104Gln Conflicting Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg171Cys Conflicting Single submitter
Inborn genetic diseases
CYP27B1 p.Arg429His Conflicting Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Arg492Pro Conflicting Single submitter
Inborn genetic diseases
CYP27B1 p.Asn502Ser Conflicting Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Glu219Asp Conflicting Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Met260Arg Conflicting Single submitter
vitamin D-dependent rickets, type 1A

Predictors lean, ClinVar uncertain 103

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CYP27B1 p.Ala152Thr Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1
CYP27B1 p.Ala155Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Ala431Ser Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ala50Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Ala92Thr Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg120Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Arg120Ser Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg14Cys Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg14His Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg432His Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Cys209Ser Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Gln135His Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Gln67Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Gly26Arg Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Gly281Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.His116Asp Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Leu202Val Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ser365Phe Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ser500Asn Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Thr415Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Trp113Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Val15Ile Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ala123Pro Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Ala142Ser Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Ala155Ser Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Ala199Ser Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ala224Ser Uncertain significance Single submitter
CYP27B1 p.Ala237Val Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ala273Ser Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Ala357Gly Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ala461Glu Uncertain significance Single submitter
CYP27B1 p.Ala484Val Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Ala8Thr Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg120His Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg122Gln Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg138His Uncertain significance Single submitter
CYP27B1 p.Arg138Leu Uncertain significance Single submitter
CYP27B1 p.Arg153Leu Uncertain significance Single submitter
CYP27B1 p.Arg173Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg255Gln Uncertain significance Single submitter
CYP27B1 p.Arg270Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg271Leu Uncertain significance Single submitter
CYP27B1 p.Arg34His Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg389Pro Uncertain significance Single submitter
CYP27B1 p.Arg459Ser Uncertain significance Single submitter
CYP27B1 p.Asp217Glu Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Asp286Val Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Asp394His Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Asp399Gly Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Cys163Phe Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Cys455Tyr Uncertain significance Single submitter
CYP27B1 p.Gln265Leu Uncertain significance Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Gln305Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu130Lys Uncertain significance Single submitter
CYP27B1 p.Glu189Gly Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Glu20Gly Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu272Asp Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu284Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu284Lys Uncertain significance Single submitter
CYP27B1 p.Glu29Ala Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu300Lys Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu338Lys Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Glu462Val Uncertain significance Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Gly194Arg Uncertain significance Single submitter
CYP27B1 p.Gly208Arg Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Gly354Asp Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Gly451Val Uncertain significance Single submitter
CYP27B1 p.Gly56Arg Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Gly73Glu Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Gly81Glu Uncertain significance Single submitter
CYP27B1 p.His116Arg Uncertain significance Single submitter
CYP27B1 p.His62Gln Uncertain significance Single submitter
CYP27B1 p.Ile347Asn Uncertain significance Single submitter
CYP27B1 p.Ile501Val Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Leu146His Uncertain significance Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Leu195Gln Uncertain significance Single submitter
CYP27B1 p.Leu245Phe Uncertain significance Single submitter
CYP27B1 p.Leu297Pro Uncertain significance Single submitter
CYP27B1 p.Leu315Pro Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Leu351Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Leu351Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Leu446Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Leu463Pro Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Leu77Val Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Lys55Gln Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Met236Thr Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Phe476Ser Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Pro19Arg Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Pro239Thr Uncertain significance Single submitter
CYP27B1 p.Pro353Ser Uncertain significance Single submitter
CYP27B1 p.Pro382Ser Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Pro447Leu Uncertain significance Single submitter
CYP27B1 p.Ser427Ala Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ser9Tyr Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Thr114Arg Uncertain significance Single submitter
CYP27B1 p.Thr439Ile Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Trp134Cys Uncertain significance Single submitter
CYP27B1 p.Trp17Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Tyr154Phe Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Tyr400Asp Uncertain significance Single submitter
CYP27B1 p.Val225Ala Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Val478Glu Uncertain significance Single submitter
CYP27B1 p.Val494Ile Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A

Predictors split 40

The independent predictors disagree with each other — read with care.

CYP27B1 p.Ala150Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Ala329Val Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Arg104Trp Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Gly56Glu Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Leu370Met Uncertain significance Multiple submitters
Inborn genetic diseases
CYP27B1 p.Pro74Leu Uncertain significance Multiple submitters
vitamin D-dependent rickets, type 1A
CYP27B1 p.Ala150Val Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg107His Likely pathogenic Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Arg252His Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Arg270Trp Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Arg492Gly Conflicting Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Cys108Arg Uncertain significance Single submitter
CYP27B1 p.Glu313Asp Uncertain significance Single submitter
CYP27B1 p.Glu481Lys Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Glu96Lys Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Gly398Ser Uncertain significance Single submitter
CYP27B1 p.Leu210Met Uncertain significance Single submitter
CYP27B1 p.Leu351Pro Uncertain significance Single submitter
multiple sclerosis, susceptibility to
CYP27B1 p.Leu506Trp Uncertain significance Single submitter
CYP27B1 p.Leu77Pro Uncertain significance Single submitter
CYP27B1 p.Lys55Glu Uncertain significance Single submitter
CYP27B1 p.Phe110Leu Uncertain significance Single submitter
CYP27B1 p.Phe190Leu Uncertain significance Single submitter
CYP27B1 p.Phe261Val Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Phe263Cys Uncertain significance Single submitter
vitamin D-dependent rickets, type 1
CYP27B1 p.Phe296Leu Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Pro337Ser Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Pro353Ala Conflicting Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Pro419Thr Uncertain significance Single submitter
CYP27B1 p.Pro440Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Pro440Ser Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Pro440Thr Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Ser427Tyr Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Thr325Met Conflicting Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Thr406Met Uncertain significance Single submitter
CYP27B1 p.Tyr413Cys Uncertain significance Single submitter
CYP27B1 p.Val161Ala Uncertain significance Single submitter
CYP27B1 p.Val186Met Uncertain significance Single submitter
Inborn genetic diseases
CYP27B1 p.Val201Ala Uncertain significance Single submitter
vitamin D-dependent rickets, type 1A
CYP27B1 p.Val397Ala Uncertain significance Single submitter

All CYP27B1 variants

Pathogenic 51

p.Arg389Cys Multiple submitters vitamin D-dependent rickets, type 1A
p.Arg429Pro Multiple submitters vitamin D-dependent rickets, type 1A
p.Gln67fs Multiple submitters vitamin D-dependent rickets, type 1A
p.Glu20fs Multiple submitters vitamin D-dependent rickets, type 1A
p.Leu58fs Multiple submitters vitamin D-dependent rickets, type 1A
p.Phe443fs Multiple submitters CYP27B1-related disorder
p.Val88fs Multiple submitters CYP27B1-related disorder
c.1136+1G>T Single submitter
c.1216-1G>C Single submitter
c.1216-20_1315delinsG Single submitter
c.589+1G>A Single submitter vitamin D-dependent rickets, type 1A
p.Ala142fs Single submitter
p.Ala273fs Single submitter
p.Ala33fs Single submitter
p.Ala485fs Single submitter
p.Arg168_Leu169insTer Single submitter
p.Arg432fs Single submitter
p.Arg459fs Single submitter
p.Asn387fs Single submitter
p.Asn405fs Single submitter
p.Asp392fs Single submitter
p.Cys124Ter Single submitter
p.Gln121Ter Single submitter
p.Gln135Ter Single submitter vitamin D-dependent rickets, type 1A
p.Gln213Ter Single submitter
p.Gln366fs Single submitter
p.Gln366Ter Single submitter
p.Glu106Ter Single submitter
p.Glu211fs Single submitter vitamin D-dependent rickets, type 1A
p.Gly102Glu Single submitter vitamin D-dependent rickets, type 1
p.Gly156fs Single submitter
p.Gly156Ter Single submitter
p.His441fs Single submitter
p.Ile402fs Single submitter
p.Leu460fs Single submitter
p.Phe12fs Single submitter
p.Pro391fs Single submitter
p.Thr177fs Single submitter
p.Thr85fs Single submitter vitamin D-dependent rickets, type 1A
p.Trp17Ter Single submitter
p.Trp250Ter Single submitter
p.Trp257fs Single submitter
p.Trp328Ter Single submitter
p.Tyr7Ter Single submitter
p.Val15fs Single submitter
p.Val166fs Single submitter vitamin D-dependent rickets, type 1A
p.Arg335Pro No assertion criteria vitamin D-dependent rickets, type 1A
p.Arg389Gly No assertion criteria vitamin D-dependent rickets, type 1A
p.Leu343Phe No assertion criteria vitamin D-dependent rickets, type 1A
p.Thr232fs No assertion criteria vitamin D-dependent rickets, type 1A
p.Thr321Arg No assertion criteria vitamin D-dependent rickets, type 1A

Pathogenic/Likely pathogenic 13

c.196-2A>G Multiple submitters CYP27B1-related disorder
p.Arg389His Multiple submitters CYP27B1-related disorder
p.Arg432Cys Multiple submitters vitamin D-dependent rickets, type 1A
p.Arg453Cys Multiple submitters vitamin D-dependent rickets, type 1A
p.Arg453His Multiple submitters CYP27B1-related disorder
p.Arg459Cys Multiple submitters CYP27B1-related disorder
p.Arg459His Multiple submitters vitamin D-dependent rickets, type 1A
p.Arg459Leu Multiple submitters vitamin D-dependent rickets, type 1A
p.Arg492Trp Multiple submitters vitamin D-dependent rickets, type 1A
p.Gly57Val Multiple submitters vitamin D-dependent rickets, type 1A
p.Lys55fs Multiple submitters vitamin D-dependent rickets, type 1A
p.Pro112Leu Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Thr409Ile Multiple submitters vitamin D-dependent rickets, type 1A ⚠

Likely pathogenic 39

c.590-1G>A Multiple submitters vitamin D-dependent rickets, type 1A
p.Ala129Val Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Arg459Pro Multiple submitters vitamin D-dependent rickets, type 1A
p.Pro143Leu Multiple submitters vitamin D-dependent rickets, type 1A
c.1215+1_1215+2insCCAAAAATGCG Single submitter vitamin D-dependent rickets, type 1A
c.1216-1G>A Single submitter vitamin D-dependent rickets, type 1A
c.386+1G>A Single submitter vitamin D-dependent rickets, type 1A
c.590-9_656delinsAGGG Single submitter
c.790+2T>G Single submitter
c.791-2A>G Single submitter
p.Arg107His Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Arg379Ser Single submitter vitamin D-dependent rickets, type 1A
p.Arg453fs Single submitter CYP27B1-related disorder
p.Arg453Leu Single submitter
p.Arg453Ser Single submitter vitamin D-dependent rickets, type 1A
p.Asn324fs Single submitter vitamin D-dependent rickets, type 1A
p.Asn387Thr Single submitter vitamin D-dependent rickets, type 1
p.Asp164Asn Single submitter vitamin D-dependent rickets, type 1A
p.Cys411Tyr Single submitter vitamin D-dependent rickets, type 1A
p.Gln421Ter Single submitter vitamin D-dependent rickets, type 1A
p.Gln479fs Single submitter vitamin D-dependent rickets, type 1A
p.Glu219fs Single submitter vitamin D-dependent rickets, type 1A
p.Glu346fs Single submitter vitamin D-dependent rickets, type 1A
p.Glu498fs Single submitter vitamin D-dependent rickets, type 1A
p.Gly125Arg Single submitter
p.Gly125Glu Single submitter vitamin D-dependent rickets, type 1A
p.Gly125Val Single submitter vitamin D-dependent rickets, type 1A
p.Gly208Val Single submitter vitamin D-dependent rickets, type 1
p.Gly318fs Single submitter vitamin D-dependent rickets, type 1A
p.His441Tyr Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Leu49fs Single submitter vitamin D-dependent rickets, type 1A
p.Lys393fs Single submitter vitamin D-dependent rickets, type 1A
p.Met1Ile Single submitter vitamin D-dependent rickets, type 1A
p.Phe450fs Single submitter vitamin D-dependent rickets, type 1A
p.Ser345Ter Single submitter vitamin D-dependent rickets, type 1A
p.Trp76Ter Single submitter vitamin D-dependent rickets, type 1A
p.Val161fs Single submitter vitamin D-dependent rickets, type 1A
p.Val201fs Single submitter vitamin D-dependent rickets, type 1A
p.Phe80fs No assertion criteria vitamin D-dependent rickets, type 1A

Conflicting classifications of pathogenicity 17

c.196-10G>T Single submitter vitamin D-dependent rickets, type 1A
c.386+10C>T Single submitter vitamin D-dependent rickets, type 1
p.Ala181Ser Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Arg104Gln Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Arg171Cys Single submitter Inborn genetic diseases ⚠
p.Arg429His Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Arg492Gly Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Arg492Pro Single submitter Inborn genetic diseases ⚠
p.Asn502Ser Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Asp39= Single submitter vitamin D-dependent rickets, type 1
p.Glu106= Single submitter vitamin D-dependent rickets, type 1
p.Glu219Asp Single submitter vitamin D-dependent rickets, type 1A ⚠
p.His116= Single submitter vitamin D-dependent rickets, type 1
p.His267= Single submitter vitamin D-dependent rickets, type 1
p.Met260Arg Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Pro353Ala Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Thr325Met Single submitter vitamin D-dependent rickets, type 1A ⚠

Benign 4

c.1414-95C>T Multiple submitters
c.1413+113A>C Single submitter
c.386+19dup Single submitter
c.387-39C>A Single submitter

Benign/Likely benign 6

c.386+14G>T Multiple submitters vitamin D-dependent rickets, type 1A
p.Ala484= Multiple submitters vitamin D-dependent rickets, type 1A
p.Leu314= Multiple submitters vitamin D-dependent rickets, type 1
p.Phe110= Multiple submitters vitamin D-dependent rickets, type 1A
p.Thr406= Multiple submitters
p.Val166Leu Multiple submitters vitamin D-dependent rickets, type 1

Likely benign 239

c.1136+15G>A Multiple submitters
c.1136+18G>A Multiple submitters
c.1136+7G>A Multiple submitters
c.1215+11C>G Multiple submitters
c.1216-18T>G Multiple submitters vitamin D-dependent rickets, type 1A
c.195+13_195+26del Multiple submitters
c.196-20C>T Multiple submitters
c.196-4C>G Multiple submitters Inborn genetic diseases
c.386+14G>A Multiple submitters vitamin D-dependent rickets, type 1A
c.387-8C>A Multiple submitters vitamin D-dependent rickets, type 1A
p.Ala129Thr Multiple submitters
p.Ala181= Multiple submitters
p.Ala92= Multiple submitters
p.Phe72= Multiple submitters
p.Ser59= Multiple submitters
p.Thr362= Multiple submitters
p.Thr493= Multiple submitters
p.Val230= Multiple submitters vitamin D-dependent rickets, type 1A
c.1136+11A>G Single submitter
c.1136+11A>T Single submitter
c.1136+14A>G Single submitter
c.1136+17G>A Single submitter
c.1136+17G>C Single submitter
c.1136+19A>T Single submitter
c.1136+20G>A Single submitter
c.1137-12T>C Single submitter
c.1137-7A>T Single submitter
c.1215+10G>A Single submitter
c.1215+12C>A Single submitter
c.1215+12C>G Single submitter
c.1215+13T>C Single submitter
c.1215+15T>G Single submitter
c.1215+19C>T Single submitter
c.1215+20C>T Single submitter
c.1413+10C>G Single submitter
c.1413+10C>T Single submitter
c.1413+15T>C Single submitter
c.1413+16T>G Single submitter
c.1414-14T>C Single submitter
c.1414-19C>G Single submitter
c.1414-19C>T Single submitter
c.1414-5T>C Single submitter
c.1414-6T>C Single submitter
c.195+12C>T Single submitter
c.195+7A>C Single submitter
c.196-10G>C Single submitter
c.196-11C>T Single submitter
c.196-12C>T Single submitter
c.196-14G>C Single submitter
c.196-16G>C Single submitter
c.196-19G>A Single submitter
c.196-19G>T Single submitter
c.196-20C>G Single submitter
c.196-5_196-3del Single submitter
c.196-6C>T Single submitter
c.196-9C>A Single submitter
c.386+10C>G Single submitter
c.386+11T>G Single submitter
c.386+16C>T Single submitter
c.386+17C>T Single submitter
c.386+18C>G Single submitter
c.386+19C>A Single submitter
c.386+19C>T Single submitter
c.386+20A>G Single submitter
c.386+8T>C Single submitter
c.387-13C>T Single submitter
c.387-160G>A Single submitter
c.387-16C>T Single submitter
c.589+20T>C Single submitter
c.590-11C>G Single submitter
c.590-17C>T Single submitter
c.590-19G>A Single submitter
c.590-5A>G Single submitter
c.590-6G>A Single submitter
c.790+13T>A Single submitter
c.790+13T>C Single submitter
c.790+13T>G Single submitter
c.790+15G>A Single submitter
c.790+7C>G Single submitter
c.790+8A>C Single submitter
c.790+8A>G Single submitter
c.791-16C>T Single submitter
c.791-17G>A Single submitter
c.791-19G>A Single submitter
c.791-20C>A Single submitter
c.791-20C>T Single submitter
c.791-20del Single submitter
c.791-5C>T Single submitter
c.791-7C>G Single submitter
c.791-7del Single submitter
c.791-8C>T Single submitter
c.791-9C>T Single submitter
c.963+17G>C Single submitter
c.963+17G>T Single submitter
c.963+7T>C Single submitter
c.963+9C>G Single submitter
c.964-13A>C Single submitter
c.964-13A>G Single submitter
c.964-9G>C Single submitter
c.*415G>A Single submitter vitamin D-dependent rickets, type 1
c.*77G>A Single submitter vitamin D-dependent rickets, type 1
p.Ala151= Single submitter
p.Ala155= Single submitter
p.Ala18= Single submitter
p.Ala200= Single submitter
p.Ala237= Single submitter
p.Ala291= Single submitter
p.Ala317= Single submitter
p.Ala329= Single submitter
p.Ala33= Single submitter
p.Ala372= Single submitter
p.Ala444= Single submitter
p.Ala50= Single submitter
p.Ala78= Single submitter
p.Ala8= Single submitter
p.Arg117= Single submitter
p.Arg122= Single submitter
p.Arg14= Single submitter
p.Arg223= Single submitter
p.Arg34= Single submitter
p.Arg35= Single submitter
p.Arg459= Single submitter
p.Asn160= Single submitter
p.Asp185= Single submitter
p.Asp394= Single submitter
p.Asp399= Single submitter
p.Asp507= Single submitter
p.Cys119= Single submitter
p.Cys124= Single submitter
p.Cys163= Single submitter
p.Cys209= Single submitter
p.Gln305Pro Single submitter
p.Gln421= Single submitter
p.Gln504= Single submitter
p.Glu132= Single submitter
p.Glu189= Single submitter
p.Glu219= Single submitter
p.Glu288= Single submitter
p.Glu376= Single submitter
p.Glu436= Single submitter
p.Glu464= Single submitter
p.Glu477= Single submitter
p.Glu481= Single submitter
p.Glu63= Single submitter
p.Glu95= Single submitter
p.Gly131= Single submitter
p.Gly156Glu Single submitter Inborn genetic diseases
p.Gly174= Single submitter
p.Gly178= Single submitter
p.Gly22= Single submitter
p.Gly226= Single submitter
p.Gly248= Single submitter
p.Gly251= Single submitter
p.Gly281= Single submitter
p.Gly42= Single submitter
p.Gly435= Single submitter
p.Gly451= Single submitter
p.Gly57= Single submitter
p.His31= Single submitter
p.His336= Single submitter
p.His344= Single submitter
p.His396= Single submitter
p.His62= Single submitter
p.Ile347= Single submitter
p.Ile501= Single submitter
p.Leu126= Single submitter
p.Leu127= Single submitter
p.Leu169= Single submitter
p.Leu182= Single submitter
p.Leu203= Single submitter
p.Leu210= Single submitter
p.Leu25= Single submitter
p.Leu315= Single submitter
p.Leu316= Single submitter
p.Leu330= Single submitter
p.Leu351= Single submitter
p.Leu370= Single submitter
p.Leu380= Single submitter
p.Leu407= Single submitter
p.Leu410= Single submitter
p.Leu465= Single submitter
p.Leu49= Single submitter
p.Leu61= Single submitter
p.Leu93= Single submitter
p.Lys285= Single submitter
p.Lys371= Single submitter
p.Lys452= Single submitter
p.Phe12= Single submitter
p.Phe261= Single submitter
p.Phe422= Single submitter
p.Phe428= Single submitter
p.Pro103= Single submitter
p.Pro105= Single submitter
p.Pro143= Single submitter
p.Pro180= Single submitter
p.Pro19= Single submitter
p.Pro215= Single submitter
p.Pro216= Single submitter
p.Pro239= Single submitter
p.Pro283= Single submitter
p.Pro353= Single submitter
p.Pro359= Single submitter
p.Pro368= Single submitter
p.Pro382= Single submitter
p.Pro43= Single submitter
p.Pro440= Single submitter
p.Pro46= Single submitter
p.Pro497= Single submitter
p.Pro74= Single submitter
p.Ser109= Single submitter
p.Ser111= Single submitter
p.Ser205= Single submitter
p.Ser24= Single submitter
p.Ser32= Single submitter
p.Ser327= Single submitter
p.Ser334= Single submitter
p.Ser345= Single submitter
p.Ser352= Single submitter
p.Ser36= Single submitter
p.Ser416= Single submitter
p.Thr114= Single submitter
p.Thr177= Single submitter
p.Thr218= Single submitter
p.Thr232= Single submitter
p.Thr325= Single submitter
p.Thr82= Single submitter
p.Thr85= Single submitter
p.Tyr27= Single submitter
p.Tyr30= Single submitter
p.Tyr413= Single submitter
p.Val166= Single submitter
p.Val214= Single submitter
p.Val311= Single submitter
p.Val339= Single submitter
p.Val373= Single submitter
p.Val397= Single submitter
p.Val478= Single submitter
p.Val86= Single submitter
p.Val88= Single submitter

Uncertain significance 179

p.Ala150Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala152Thr Multiple submitters vitamin D-dependent rickets, type 1 ⚠
p.Ala155Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala329Val Multiple submitters Inborn genetic diseases ⚠
p.Ala431Ser Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Ala50Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala92Thr Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Arg104Trp Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Arg117His Multiple submitters vitamin D-dependent rickets, type 1A
p.Arg120Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg120Ser Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Arg14Cys Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Arg14His Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Arg167Pro Multiple submitters Inborn genetic diseases
p.Arg432His Multiple submitters Inborn genetic diseases ⚠
p.Cys209Ser Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Gln135His Multiple submitters Inborn genetic diseases ⚠
p.Gln67Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly26Arg Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Gly281Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly56Glu Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.His116Asp Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Leu202Val Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Leu370Met Multiple submitters Inborn genetic diseases ⚠
p.Lys55Met Multiple submitters vitamin D-dependent rickets, type 1A
p.Met1_Thr2insAsnGlnThrMet Multiple submitters vitamin D-dependent rickets, type 1A
p.Pro74Leu Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Ser365Phe Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Ser500Asn Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Thr235Asn Multiple submitters vitamin D-dependent rickets, type 1A
p.Thr321= Multiple submitters vitamin D-dependent rickets, type 1A
p.Thr415Ile Multiple submitters Inborn genetic diseases ⚠
p.Trp113Arg Multiple submitters Inborn genetic diseases ⚠
p.Val15Ile Multiple submitters vitamin D-dependent rickets, type 1A ⚠
p.Val183Leu Multiple submitters Inborn genetic diseases
p.Val374Ala Multiple submitters vitamin D-dependent rickets, type 1A
p.Val408Phe Multiple submitters vitamin D-dependent rickets, type 1A
c.1136+5G>C Single submitter
c.1136+9G>T Single submitter
c.1137-20T>G Single submitter
c.1137-6A>G Single submitter
c.1215+5del Single submitter
c.1215+5G>A Single submitter
c.386+6T>C Single submitter
c.387-11C>T Single submitter vitamin D-dependent rickets, type 1A
c.387-9A>T Single submitter vitamin D-dependent rickets, type 1A
c.963+5G>A Single submitter
c.963+6G>T Single submitter
c.-22C>G Single submitter vitamin D-dependent rickets, type 1
c.*143G>A Single submitter vitamin D-dependent rickets, type 1
c.*215G>C Single submitter vitamin D-dependent rickets, type 1
c.*295G>A Single submitter vitamin D-dependent rickets, type 1
c.*301T>C Single submitter vitamin D-dependent rickets, type 1
c.*329T>C Single submitter vitamin D-dependent rickets, type 1
c.*345T>C Single submitter vitamin D-dependent rickets, type 1
c.*426T>C Single submitter vitamin D-dependent rickets, type 1
c.*446G>A Single submitter vitamin D-dependent rickets, type 1
c.*472C>A Single submitter vitamin D-dependent rickets, type 1
c.*635G>A Single submitter vitamin D-dependent rickets, type 1
c.*722C>G Single submitter vitamin D-dependent rickets, type 1
c.*764T>A Single submitter vitamin D-dependent rickets, type 1
c.*76G>A Single submitter vitamin D-dependent rickets, type 1
p.Ala123Pro Single submitter Inborn genetic diseases ⚠
p.Ala142Ser Single submitter Inborn genetic diseases ⚠
p.Ala150Val Single submitter Inborn genetic diseases ⚠
p.Ala155Ser Single submitter Inborn genetic diseases ⚠
p.Ala199Ser Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Ala224Ser Single submitter ⚠
p.Ala237Val Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Ala273Ser Single submitter Inborn genetic diseases ⚠
p.Ala357Gly Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Ala461Glu Single submitter ⚠
p.Ala484Val Single submitter Inborn genetic diseases ⚠
p.Ala89_Ala90del Single submitter
p.Ala8Thr Single submitter Inborn genetic diseases ⚠
p.Arg120His Single submitter Inborn genetic diseases ⚠
p.Arg122Gln Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Arg138His Single submitter ⚠
p.Arg138Leu Single submitter ⚠
p.Arg153Leu Single submitter ⚠
p.Arg173Gln Single submitter Inborn genetic diseases ⚠
p.Arg252His Single submitter Inborn genetic diseases ⚠
p.Arg255Gln Single submitter ⚠
p.Arg270Gln Single submitter Inborn genetic diseases ⚠
p.Arg270Trp Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Arg271Leu Single submitter ⚠
p.Arg34His Single submitter Inborn genetic diseases ⚠
p.Arg389Pro Single submitter ⚠
p.Arg459Ser Single submitter ⚠
p.Asp217Glu Single submitter Inborn genetic diseases ⚠
p.Asp286Val Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Asp394His Single submitter Inborn genetic diseases ⚠
p.Asp399Gly Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Cys108Arg Single submitter ⚠
p.Cys163Phe Single submitter Inborn genetic diseases ⚠
p.Cys455Tyr Single submitter ⚠
p.Gln265Leu Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Gln305Arg Single submitter Inborn genetic diseases ⚠
p.Gln504Ter Single submitter
p.Glu130Lys Single submitter ⚠
p.Glu189Gly Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Glu20Gly Single submitter Inborn genetic diseases ⚠
p.Glu272Asp Single submitter Inborn genetic diseases ⚠
p.Glu284Gln Single submitter Inborn genetic diseases ⚠
p.Glu284Lys Single submitter ⚠
p.Glu29Ala Single submitter Inborn genetic diseases ⚠
p.Glu300Lys Single submitter Inborn genetic diseases ⚠
p.Glu313Asp Single submitter ⚠
p.Glu338Lys Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Glu462Val Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Glu481Lys Single submitter Inborn genetic diseases ⚠
p.Glu96Lys Single submitter Inborn genetic diseases ⚠
p.Gly194Arg Single submitter ⚠
p.Gly208Arg Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Gly354Asp Single submitter Inborn genetic diseases ⚠
p.Gly398Ser Single submitter ⚠
p.Gly451Val Single submitter ⚠
p.Gly56Arg Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Gly73Glu Single submitter Inborn genetic diseases ⚠
p.Gly81Glu Single submitter ⚠
p.His116Arg Single submitter ⚠
p.His62Gln Single submitter ⚠
p.Ile347Asn Single submitter ⚠
p.Ile501Val Single submitter Inborn genetic diseases ⚠
p.Leu146His Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Leu195Gln Single submitter ⚠
p.Leu210Met Single submitter ⚠
p.Leu245Phe Single submitter ⚠
p.Leu297Pro Single submitter ⚠
p.Leu315Pro Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Leu351Arg Single submitter Inborn genetic diseases ⚠
p.Leu351Gln Single submitter Inborn genetic diseases ⚠
p.Leu351Pro Single submitter multiple sclerosis, susceptibility to ⚠
p.Leu446Arg Single submitter Inborn genetic diseases ⚠
p.Leu463Pro Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Leu495Val Single submitter vitamin D-dependent rickets, type 1A
p.Leu506Trp Single submitter ⚠
p.Leu77Pro Single submitter ⚠
p.Leu77Val Single submitter Inborn genetic diseases ⚠
p.Leu97_Glu101del Single submitter
p.Lys55Gln Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Lys55Glu Single submitter ⚠
p.Met236Thr Single submitter Inborn genetic diseases ⚠
p.Phe110Leu Single submitter ⚠
p.Phe190Leu Single submitter ⚠
p.Phe261Val Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Phe263Cys Single submitter vitamin D-dependent rickets, type 1 ⚠
p.Phe296Leu Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Phe476Ser Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Pro19Arg Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Pro239Thr Single submitter ⚠
p.Pro337Ser Single submitter Inborn genetic diseases ⚠
p.Pro353Ser Single submitter ⚠
p.Pro382Ser Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Pro419Thr Single submitter ⚠
p.Pro440Arg Single submitter Inborn genetic diseases ⚠
p.Pro440Ser Single submitter Inborn genetic diseases ⚠
p.Pro440Thr Single submitter Inborn genetic diseases ⚠
p.Pro447Leu Single submitter ⚠
p.Ser205Trp Single submitter
p.Ser427Ala Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Ser427Tyr Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Ser9Tyr Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Thr114Arg Single submitter ⚠
p.Thr406Met Single submitter ⚠
p.Thr439Ile Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Trp134Cys Single submitter ⚠
p.Trp17Arg Single submitter Inborn genetic diseases ⚠
p.Tyr154Phe Single submitter Inborn genetic diseases ⚠
p.Tyr191His Single submitter Inborn genetic diseases
p.Tyr400Asp Single submitter ⚠
p.Tyr413Cys Single submitter ⚠
p.Val161Ala Single submitter ⚠
p.Val186Met Single submitter Inborn genetic diseases ⚠
p.Val201Ala Single submitter vitamin D-dependent rickets, type 1A ⚠
p.Val225Ala Single submitter Inborn genetic diseases ⚠
p.Val397Ala Single submitter ⚠
p.Val478Glu Single submitter ⚠
p.Val494Ile Single submitter vitamin D-dependent rickets, type 1A ⚠