VDR — 549 ClinVar variants
All ClinVar germline VDR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
24 Pathogenic · 2 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 31 Conflicting · 35 Benign · 2 Benign/Likely benign · 221 Likely benign · 221 Uncertain significance
Full VDR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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 agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
VDR p.Ala350Thr
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Arg173Ser
Conflicting
Single submitter
Inborn genetic diseases
-
VDR p.Arg18Trp
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Arg22Trp
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Arg358His
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Arg80Gln
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Asn290Ser
Conflicting
Single submitter
Inborn genetic diseases
-
VDR p.Gln259Glu
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Glu329Gln
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Thr192Ser
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Thr59Ile Conflicting Single submitter
-
VDR p.Val297Ile
Conflicting
Single submitter
Inborn genetic diseases
-
VDR p.Val339Ala
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
VDR p.Ala349Thr
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Ala388Asp
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Ala5Val
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg104Gln
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg121Gln
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg130His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Arg154Trp
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg296Cys
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg368Leu
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg370His
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg54Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Arg74His
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Asn361Ser
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Asn37Ser
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Asp181Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Asp181Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Asp253Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Asp292His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Asp29Gly
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Asp71Gly
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.His189Asn
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Ile242Thr
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Lys240Asn
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Phe406Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Pro170His
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Pro176Leu
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Pro21Ser
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Val261Ile
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Ala350Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Ala350Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Ala56Thr
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Ala6Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Ala78Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Arg104Trp Uncertain significance Single submitter
- VDR p.Arg130Pro Uncertain significance Single submitter
-
VDR p.Arg154Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- VDR p.Arg158His Uncertain significance Single submitter
- VDR p.Arg22Pro Uncertain significance Single submitter
-
VDR p.Arg274Cys
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Arg274Pro Uncertain significance Single submitter
- VDR p.Arg368His Uncertain significance Single submitter
- VDR p.Arg54Trp Uncertain significance Single submitter
- VDR p.Arg67His Uncertain significance Single submitter
-
VDR p.Arg74Ser
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Asn171Lys
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Asn204His Uncertain significance Single submitter
- VDR p.Asp137Glu Uncertain significance Single submitter
-
VDR p.Asp15Gly
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Asp17His
Uncertain significance
Single submitter
Hypophosphataemia or rickets
-
VDR p.Asp211Gly
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Asp258Asn
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Asp282Asn Uncertain significance Single submitter
-
VDR p.Cys24Ser
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Cys27Arg Uncertain significance Single submitter
-
VDR p.Cys76Phe
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Cys79Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Gln347Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Glu220Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- VDR p.Glu257Asp Uncertain significance Single submitter
-
VDR p.Glu92Lys
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Gly180Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Gly250Arg
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Gly33Ala Uncertain significance Single submitter
-
VDR p.Gly375Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Gly43Ala
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Gly46Ala Uncertain significance Single submitter
- VDR p.His140Pro Uncertain significance Single submitter
- VDR p.Ile132Ser Uncertain significance Single submitter
-
VDR p.Ile314Ser
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Ile355Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Leu205Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Leu224Phe
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Leu230Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Leu323Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Leu363Pro Uncertain significance Single submitter
-
VDR p.Leu414Pro
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Lys315Asn
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Lys53Gln Uncertain significance Single submitter
-
VDR p.Met272Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Met4Val Uncertain significance Single submitter
-
VDR p.Met52Thr
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Phe34Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- VDR p.Pro228Leu Uncertain significance Single submitter
-
VDR p.Pro416Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- VDR p.Pro61Leu Uncertain significance Single submitter
-
VDR p.Ser208Asn
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Ser212Thr Uncertain significance Single submitter
- VDR p.Ser256Ala Uncertain significance Single submitter
- VDR p.Ser275Phe Uncertain significance Single submitter
-
VDR p.Ser427Ala
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Ser51Thr Uncertain significance Single submitter
-
VDR p.Thr415Met
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Thr8Ser Uncertain significance Single submitter
-
VDR p.Tyr366His
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Val100Ala
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Cys410Phe
Uncertain significance
No assertion criteria
vitamin D-dependent rickets, type 2A
Predictors split 48
The independent predictors disagree with each other — read with care.
-
VDR p.Arg110Gln
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg121Trp
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
- VDR p.Arg130Cys Uncertain significance Multiple submitters
-
VDR p.Arg22Gln
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Arg30Gln
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
- VDR p.Arg368Cys Uncertain significance Multiple submitters
-
VDR p.Arg67Cys
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Asp86Gly
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
- VDR p.Glu396Lys Uncertain significance Multiple submitters
-
VDR p.Ile87Val
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
-
VDR p.Pro155Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VDR p.Pro374Arg
Uncertain significance
Multiple submitters
vitamin D-dependent rickets, type 2A
- VDR p.Arg358Cys Uncertain significance Single submitter
-
VDR p.Arg370Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Arg370Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Arg402Cys
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Arg402His Uncertain significance Single submitter
-
VDR p.Asn204Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Asp149Gly
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Asp232Glu Uncertain significance Single submitter
- VDR p.Asp282Gly Uncertain significance Single submitter
-
VDR p.Asp292Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Glu2Lys
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Glu311Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Glu395Gln
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Glu425Lys Uncertain significance Single submitter
-
VDR p.Glu99Ala
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Gly64Glu Uncertain significance Single submitter
- VDR p.His229Asp Uncertain significance Single submitter
-
VDR p.Ile132Val
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Ile268Thr
Conflicting
Single submitter
familial adenomatous polyposis 2
-
VDR p.Ile338Met
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Ile68Val Uncertain significance Single submitter
-
VDR p.Leu116Trp
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Met52Ile
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Phe406Tyr
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Pro145Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- VDR p.Pro312Ser Uncertain significance Single submitter
- VDR p.Pro344Ser Uncertain significance Single submitter
- VDR p.Pro372Leu Uncertain significance Single submitter
- VDR p.Pro374Leu Uncertain significance Single submitter
-
VDR p.Ser298Gly
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
- VDR p.Ser405Phe Uncertain significance Single submitter
- VDR p.Thr301Ala Uncertain significance Single submitter
-
VDR p.Thr362Ile
Conflicting
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Thr365Met
Uncertain significance
Single submitter
vitamin D-dependent rickets, type 2A
-
VDR p.Val20Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
VDR p.Arg18Gln
Uncertain significance
No assertion criteria
VDR-related disorder
All VDR variants
Pathogenic 24
- p.Arg30Ter Multiple submitters vitamin D-dependent rickets, type 2A
- p.Arg391His Multiple submitters vitamin D-dependent rickets, type 2A
- p.Arg50Ter Multiple submitters vitamin D-dependent rickets, type 2A
- p.Arg73Ter Multiple submitters vitamin D-dependent rickets, type 2A
- p.Tyr295Ter Multiple submitters vitamin D-dependent rickets, type 2A
- c.755+1G>C Single submitter
- p.Arg391Cys Single submitter vitamin D-dependent rickets, type 2A
- p.Asn394_Ter428delinsXaa Single submitter
- p.Cys84fs Single submitter
- p.Gln347Ter Single submitter
- p.Glu112Ter Single submitter
- p.Ser187Ter Single submitter
- p.Ser278fs Single submitter
- p.Trp286Arg Single submitter vitamin D-dependent rickets, type 2A
- p.Arg274Leu No assertion criteria vitamin D-dependent rickets, type 2A
- p.Arg391Ser No assertion criteria vitamin D-dependent rickets, type 2A
- p.Arg50Gln No assertion criteria vitamin D-dependent rickets, type 2A
- p.Gln152Ter No assertion criteria vitamin D-dependent rickets, type 2A
- p.Glu329Lys No assertion criteria vitamin D-dependent rickets, type 2A
- p.Gly33Asp No assertion criteria vitamin D-dependent rickets, type 2A
- p.Gly46Asp No assertion criteria vitamin D-dependent rickets, type 2A
- p.His305Gln No assertion criteria vitamin D-dependent rickets, type 2A
- p.His397Pro No assertion criteria vitamin D-dependent rickets, type 2A
- p.Lys123fs No assertion criteria vitamin D-dependent rickets, type 2A
Pathogenic/Likely pathogenic 2
- p.Arg274His Multiple submitters rickets
- p.Arg73Gln Multiple submitters vitamin D-dependent rickets, type 2A
Likely pathogenic 13
- p.Arg343Cys Multiple submitters vitamin D-dependent rickets, type 2A
- p.Val346Met Multiple submitters vitamin D-dependent rickets, type 2A
- c.1024+1G>A Single submitter vitamin D-dependent rickets, type 2A
- c.146+1G>T Single submitter vitamin D-dependent rickets, type 2A
- c.907+1G>C Single submitter
- c.-2-1G>A Single submitter vitamin D-dependent rickets, type 2A
- c.-45A>G Single submitter vitamin D-dependent rickets, type 2A
- p.Arg80Trp Single submitter
- p.Gln385Ter Single submitter vitamin D-dependent rickets, type 2A
- p.Glu127Ter Single submitter vitamin D-dependent rickets, type 2A
- p.Gly304Arg Single submitter
- p.Leu313fs Single submitter vitamin D-dependent rickets, type 2A
- p.Val26Met Single submitter
Conflicting classifications of pathogenicity 31
- c.1025-49G>T Single submitter vitamin D-dependent rickets, type 2A
- c.146+9dup Single submitter
- c.278-5C>T Single submitter vitamin D-dependent rickets, type 2A
- c.755+13T>C Single submitter vitamin D-dependent rickets, type 2A
- c.908-14A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*184T>G Single submitter vitamin D-dependent rickets, type 2A
- c.*222G>C Single submitter vitamin D-dependent rickets, type 2A
- p.Ala303= Single submitter vitamin D-dependent rickets, type 2A
- p.Ala350Thr Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg173Ser Single submitter Inborn genetic diseases ⚠
- p.Arg18Trp Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg22Trp Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg358His Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg80Gln Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asn290Ser Single submitter Inborn genetic diseases ⚠
- p.Asn324= Single submitter vitamin D-dependent rickets, type 2A
- p.Gln259Glu Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Glu311= Single submitter vitamin D-dependent rickets, type 2A
- p.Glu329Gln Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.His377= Single submitter vitamin D-dependent rickets, type 2A
- p.Ile268Thr Single submitter familial adenomatous polyposis 2 ⚠
- p.Ile384= Single submitter vitamin D-dependent rickets, type 2A
- p.Met52Ile Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Thr192Ser Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Thr362Ile Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Thr365= Single submitter vitamin D-dependent rickets, type 2A
- p.Thr59Ile Single submitter ⚠
- p.Tyr143= Single submitter vitamin D-dependent rickets, type 2A
- p.Tyr366= Single submitter vitamin D-dependent rickets, type 2A
- p.Val297Ile Single submitter Inborn genetic diseases ⚠
- p.Val339Ala Single submitter vitamin D-dependent rickets, type 2A ⚠
Benign 35
- c.1025-112G>C Multiple submitters
- c.1025-95G>A Multiple submitters
- c.146+290C>T Multiple submitters
- c.146+8C>T Multiple submitters vitamin D-dependent rickets, type 2A
- c.147-166G>A Multiple submitters
- c.278-62G>A Multiple submitters
- c.278-71C>T Multiple submitters
- c.583+118A>T Multiple submitters
- c.755+154G>A Multiple submitters
- c.-2-162T>C Multiple submitters
- c.-84+5022C>A Multiple submitters vitamin D-dependent rickets, type 2A
- c.-84+5133G>C Multiple submitters vitamin D-dependent rickets, type 2A
- c.*1226T>C Multiple submitters vitamin D-dependent rickets, type 2A
- c.*1906C>A Multiple submitters vitamin D-dependent rickets, type 2A
- c.*1979C>G Multiple submitters vitamin D-dependent rickets, type 2A
- c.*2143A>T Multiple submitters vitamin D-dependent rickets, type 2A
- c.*308C>A Multiple submitters vitamin D-dependent rickets, type 2A
- c.*461G>T Multiple submitters vitamin D-dependent rickets, type 2A
- p.Asn19= Multiple submitters vitamin D-dependent rickets, type 2A
- p.Ile352= Multiple submitters vitamin D-dependent rickets, type 2A
- p.Phe16= Multiple submitters vitamin D-dependent rickets, type 2A
- c.1024+283G>A Single submitter periodontitis
- c.278-5dup Single submitter
- c.584-276C>T Single submitter
- c.755+259ATTT[10] Single submitter
- c.755+259ATTT[9] Single submitter
- c.907+73dup Single submitter
- c.-2-309A>G Single submitter
- c.-2-321A>C Single submitter
- c.-3+256G>A Single submitter
- c.-3+48A>G Single submitter
- c.*1503G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2791G>A Single submitter vitamin D-dependent rickets, type 2A
- p.Glu105= Single submitter
- p.Gly64= Single submitter
Benign/Likely benign 2
Likely benign 221
- c.146+236T>C Multiple submitters
- c.147-164T>C Multiple submitters
- c.147-65C>T Multiple submitters
- c.463-44G>A Multiple submitters
- c.583+13T>G Multiple submitters
- c.583+143C>T Multiple submitters
- c.-2-95G>A Multiple submitters
- c.-3+45T>C Multiple submitters
- c.-83-56T>C Multiple submitters
- c.-84+443T>C Multiple submitters
- c.*437C>G Multiple submitters vitamin D-dependent rickets, type 2A
- p.Arg54= Multiple submitters vitamin D-dependent rickets, type 2A
- p.Arg73= Multiple submitters vitamin D-dependent rickets, type 2A
- p.Asp299= Multiple submitters vitamin D-dependent rickets, type 2A
- p.Glu269= Multiple submitters
- p.Leu309= Multiple submitters
- p.Pro372= Multiple submitters Inborn genetic diseases
- c.1024+15A>T Single submitter
- c.1024+17G>A Single submitter
- c.1024+20G>A Single submitter
- c.1024+7G>A Single submitter
- c.1024+7G>C Single submitter
- c.1024+8G>A Single submitter
- c.1024+9C>T Single submitter
- c.1025-10G>A Single submitter
- c.1025-11C>G Single submitter
- c.1025-11C>T Single submitter
- c.1025-12C>T Single submitter
- c.1025-15T>A Single submitter
- c.1025-16A>G Single submitter
- c.1025-16A>T Single submitter
- c.1025-20C>T Single submitter
- c.1025-21_1025-19del Single submitter
- c.1025-24_1025-19del Single submitter
- c.1025-5C>T Single submitter
- c.1025-8G>T Single submitter
- c.146+12T>A Single submitter
- c.146+15C>T Single submitter
- c.146+19C>A Single submitter
- c.146+19C>T Single submitter
- c.146+7C>T Single submitter
- c.146+8dup Single submitter
- c.147-11TC[4] Single submitter
- c.147-12C>T Single submitter
- c.147-17G>A Single submitter
- c.147-17G>C Single submitter
- c.147-17G>T Single submitter
- c.147-19G>A Single submitter
- c.147-20G>A Single submitter
- c.147-22_147-12del Single submitter
- c.147-5G>C Single submitter
- c.147-5G>T Single submitter
- c.147-6C>T Single submitter
- c.277+10C>T Single submitter
- c.277+11del Single submitter
- c.277+12G>C Single submitter
- c.277+13G>A Single submitter
- c.277+16del Single submitter
- c.277+17T>C Single submitter
- c.277+195G>A Single submitter
- c.277+20G>A Single submitter
- c.277+7G>A Single submitter
- c.278-10C>T Single submitter
- c.278-11C>T Single submitter
- c.278-12C>G Single submitter
- c.278-13T>C Single submitter
- c.278-16C>G Single submitter
- c.462+12T>C Single submitter
- c.462+12T>G Single submitter
- c.462+14C>T Single submitter
- c.462+8T>A Single submitter
- c.462+8T>C Single submitter
- c.463-6T>C Single submitter
- c.463-9C>G Single submitter
- c.583+11C>T Single submitter
- c.583+13T>A Single submitter
- c.583+17T>G Single submitter
- c.583+20T>C Single submitter
- c.584-15C>G Single submitter
- c.584-15C>T Single submitter
- c.584-49T>C Single submitter
- c.584-5C>A Single submitter
- c.584-7C>T Single submitter
- c.584-9C>G Single submitter
- c.755+15C>T Single submitter
- c.755+17A>G Single submitter
- c.755+19C>T Single submitter
- c.755+259ATTT[11] Single submitter
- c.755+7A>G Single submitter
- c.756-10T>A Single submitter
- c.756-10T>C Single submitter
- c.756-15C>T Single submitter
- c.756-257C>A Single submitter
- c.756-4G>C Single submitter
- c.756-8C>T Single submitter
- c.756-9C>T Single submitter
- c.907+14C>T Single submitter
- c.907+15C>T Single submitter
- c.907+18C>T Single submitter
- c.907+19T>A Single submitter
- c.907+19T>C Single submitter
- c.907+20C>A Single submitter
- c.908-12T>C Single submitter
- c.908-13T>C Single submitter
- c.908-15del Single submitter
- c.908-6T>C Single submitter
- c.908-7C>G Single submitter
- c.908-9C>T Single submitter
- c.-2-186T>C Single submitter
- c.-2-306_-2-296del Single submitter
- c.-2-51G>A Single submitter
- c.-83-288C>T Single submitter
- c.*1242A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*1281G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2593A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*2827A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*2974A>T Single submitter vitamin D-dependent rickets, type 2A
- c.*408T>C Single submitter vitamin D-dependent rickets, type 2A
- c.*409G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*562A>C Single submitter vitamin D-dependent rickets, type 2A
- p.Ala115= Single submitter
- p.Ala133= Single submitter
- p.Ala138= Single submitter
- p.Ala267= Single submitter
- p.Ala350= Single submitter
- p.Ala38= Single submitter
- p.Ala388= Single submitter
- p.Ala5= Single submitter
- p.Ala6= Single submitter
- p.Arg121= Single submitter
- p.Arg169= Single submitter
- p.Arg18= Single submitter
- p.Arg22= Single submitter
- p.Arg296= Single submitter
- p.Arg391= Single submitter
- p.Arg67= Single submitter
- p.Arg80= Single submitter
- p.Asn37= Single submitter
- p.Asn394= Single submitter
- p.Asn63= Single submitter
- p.Asn72= Single submitter
- p.Asp12= Single submitter
- p.Asp137= Single submitter
- p.Asp181= Single submitter
- p.Asp198= Single submitter
- p.Asp211= Single submitter
- p.Asp213= Single submitter
- p.Asp214= Single submitter
- p.Asp282= Single submitter
- p.Asp348= Single submitter
- p.Cys24= Single submitter
- p.Cys337= Single submitter
- p.Cys84= Single submitter
- p.Gln129= Single submitter
- p.Glu114= Single submitter
- p.Glu2= Single submitter
- p.Glu209= Single submitter
- p.Glu257= Single submitter
- p.Glu353= Single submitter
- p.Glu395= Single submitter
- p.Gly250= Single submitter
- p.Gly319= Single submitter
- p.Gly43= Single submitter
- p.His139= Single submitter
- p.His174= Single submitter
- p.His305= Single submitter
- p.His371= Single submitter
- p.His397= Single submitter
- p.Ile260= Single submitter
- p.Ile336= Single submitter
- p.Ile338= Single submitter
- p.Ile355= Single submitter
- p.Ile87= Single submitter
- p.Leu10= Single submitter
- p.Leu108= Single submitter
- p.Leu135= Single submitter
- p.Leu219= Single submitter
- p.Leu221= Single submitter
- p.Leu224= Single submitter
- p.Leu233= Single submitter
- p.Leu263= Single submitter
- p.Leu273= Single submitter
- p.Leu307= Single submitter
- p.Leu320= Single submitter
- p.Leu332= Single submitter
- p.Leu333= Single submitter
- p.Leu351= Single submitter
- p.Leu359= Single submitter
- p.Leu378= Single submitter
- p.Leu379= Single submitter
- p.Leu390= Single submitter
- p.Leu414= Single submitter
- p.Leu419= Single submitter
- p.Leu81= Single submitter
- p.Leu95= Single submitter
- p.Lys123= Single submitter
- p.Lys240= Single submitter
- p.Lys413= Single submitter
- p.Lys45= Single submitter
- p.Lys91= Single submitter
- p.Phe153= Single submitter
- p.Phe34= Single submitter
- p.Pro170Ser Single submitter Inborn genetic diseases
- p.Pro228= Single submitter
- p.Pro374= Single submitter
- p.Ser199= Single submitter
- p.Ser265= Single submitter
- p.Ser278= Single submitter
- p.Ser360= Single submitter
- p.Ser376= Single submitter
- p.Ser392= Single submitter
- p.Ser411= Single submitter
- p.Ser7= Single submitter
- p.Thr146= Single submitter
- p.Thr32= Single submitter
- p.Thr415= Single submitter
- p.Thr69= Single submitter
- p.Tyr295= Single submitter
- p.Val241= Single submitter
- p.Val300= Single submitter
- p.Val339Ile Single submitter
Uncertain significance 221
- c.146+5G>A Multiple submitters vitamin D-dependent rickets, type 2A
- c.147-5G>A Multiple submitters vitamin D-dependent rickets, type 2A
- c.*2832C>T Multiple submitters vitamin D-dependent rickets, type 2A
- p.Ala349Thr Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Ala388Asp Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Ala5Val Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg104Gln Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg110Gln Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg121Gln Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg121Trp Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg130Cys Multiple submitters ⚠
- p.Arg130His Multiple submitters Inborn genetic diseases ⚠
- p.Arg154Trp Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg22Gln Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg296Cys Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg30Gln Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg368Cys Multiple submitters ⚠
- p.Arg368Leu Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg370His Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg54Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg67Cys Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Arg74His Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Asn361Ser Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Asn37Ser Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Asp181Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp181Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp253Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp292His Multiple submitters Inborn genetic diseases ⚠
- p.Asp29Gly Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Asp71Gly Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Asp86Gly Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Glu396Lys Multiple submitters ⚠
- p.His189Asn Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Ile242Thr Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Ile87Val Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Lys240Asn Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Phe406Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro155Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro170His Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Pro176Leu Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Pro21Ser Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Pro374Arg Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- p.Val261Ile Multiple submitters vitamin D-dependent rickets, type 2A ⚠
- c.146+3G>T Single submitter vitamin D-dependent rickets, type 2A
- c.277+6T>A Single submitter
- c.584-14C>T Single submitter vitamin D-dependent rickets, type 2A
- c.-12G>C Single submitter vitamin D-dependent rickets, type 2A
- c.-3G>A Single submitter vitamin D-dependent rickets, type 2A
- c.-84+335G>T Single submitter
- c.-84+5000T>C Single submitter vitamin D-dependent rickets, type 2A
- c.-84+5034C>T Single submitter vitamin D-dependent rickets, type 2A
- c.-84+5072C>T Single submitter vitamin D-dependent rickets, type 2A
- c.-84+5083G>T Single submitter vitamin D-dependent rickets, type 2A
- c.-84+5133G>T Single submitter vitamin D-dependent rickets, type 2A
- c.*111C>A Single submitter vitamin D-dependent rickets, type 2A
- c.*1191G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*11C>T Single submitter
- c.*1235CCAGC[4] Single submitter
- c.*1319C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*1420T>C Single submitter vitamin D-dependent rickets, type 2A
- c.*1437G>C Single submitter vitamin D-dependent rickets, type 2A
- c.*1477C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*1482G>C Single submitter vitamin D-dependent rickets, type 2A
- c.*1505G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*1666A>C Single submitter vitamin D-dependent rickets, type 2A
- c.*1805A>T Single submitter vitamin D-dependent rickets, type 2A
- c.*1865G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*1906C>G Single submitter vitamin D-dependent rickets, type 2A
- c.*1982C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*1992C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2023G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2034A>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2047G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2102C>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2118_*2122del Single submitter
- c.*2127C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2168G>C Single submitter vitamin D-dependent rickets, type 2A
- c.*2226C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2227G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2263G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2296T>C Single submitter vitamin D-dependent rickets, type 2A
- c.*2309C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2328C>G Single submitter vitamin D-dependent rickets, type 2A
- c.*2359C>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2413G>C Single submitter vitamin D-dependent rickets, type 2A
- c.*2446G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2456C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2464C>G Single submitter vitamin D-dependent rickets, type 2A
- c.*2491A>C Single submitter vitamin D-dependent rickets, type 2A
- c.*2529G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*2545G>T Single submitter vitamin D-dependent rickets, type 2A
- c.*2878A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*2900A>C Single submitter vitamin D-dependent rickets, type 2A
- c.*2973G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*298C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*387C>G Single submitter vitamin D-dependent rickets, type 2A
- c.*404C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*405G>T Single submitter vitamin D-dependent rickets, type 2A
- c.*415C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*487C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*51G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*534T>C Single submitter vitamin D-dependent rickets, type 2A
- c.*601C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*623A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*6A>G Single submitter vitamin D-dependent rickets, type 2A
- c.*70C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*71G>A Single submitter vitamin D-dependent rickets, type 2A
- c.*748T>G Single submitter vitamin D-dependent rickets, type 2A
- c.*773T>G Single submitter vitamin D-dependent rickets, type 2A
- c.*827C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*843C>T Single submitter vitamin D-dependent rickets, type 2A
- c.*877C>G Single submitter vitamin D-dependent rickets, type 2A
- c.*882C>A Single submitter vitamin D-dependent rickets, type 2A
- c.*967C>A Single submitter vitamin D-dependent rickets, type 2A
- c.*97G>A Single submitter vitamin D-dependent rickets, type 2A
- p.Ala350Pro Single submitter Inborn genetic diseases ⚠
- p.Ala350Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ala56Thr Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ala6Val Single submitter Inborn genetic diseases ⚠
- p.Ala78Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg104Trp Single submitter ⚠
- p.Arg130Pro Single submitter ⚠
- p.Arg154Gly Single submitter Inborn genetic diseases ⚠
- p.Arg158His Single submitter ⚠
- p.Arg22Pro Single submitter ⚠
- p.Arg274Cys Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg274Pro Single submitter ⚠
- p.Arg358Cys Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Arg370Cys Single submitter Inborn genetic diseases ⚠
- p.Arg370Gly Single submitter Inborn genetic diseases ⚠
- p.Arg402Cys Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Arg402His Single submitter ⚠
- p.Arg54Trp Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Arg74Ser Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asn171Lys Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asn204His Single submitter ⚠
- p.Asn204Lys Single submitter Inborn genetic diseases ⚠
- p.Asp137Glu Single submitter ⚠
- p.Asp149Gly Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asp15Gly Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asp17His Single submitter Hypophosphataemia or rickets ⚠
- p.Asp211Gly Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asp232Glu Single submitter ⚠
- p.Asp258Asn Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Asp282Asn Single submitter ⚠
- p.Asp282Gly Single submitter ⚠
- p.Asp292Val Single submitter Inborn genetic diseases ⚠
- p.Cys24Ser Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Cys27Arg Single submitter ⚠
- p.Cys369Gly Single submitter vitamin D-dependent rickets, type 2A
- p.Cys76Phe Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Cys79Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln347Arg Single submitter Inborn genetic diseases ⚠
- p.Glu220Gln Single submitter Inborn genetic diseases ⚠
- p.Glu257Asp Single submitter ⚠
- p.Glu2Lys Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Glu311Asp Single submitter Inborn genetic diseases ⚠
- p.Glu395Gln Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Glu425Lys Single submitter ⚠
- p.Glu92Lys Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Glu99Ala Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Gly180Arg Single submitter Inborn genetic diseases ⚠
- p.Gly250Arg Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Gly33Ala Single submitter ⚠
- p.Gly375Asp Single submitter Inborn genetic diseases ⚠
- p.Gly43Ala Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Gly46Ala Single submitter ⚠
- p.Gly64Glu Single submitter ⚠
- p.His140Pro Single submitter ⚠
- p.His229Asp Single submitter ⚠
- p.Ile132Ser Single submitter ⚠
- p.Ile132Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ile314Ser Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ile338Met Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ile355Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ile68Val Single submitter ⚠
- p.Leu116Trp Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Leu205Val Single submitter Inborn genetic diseases ⚠
- p.Leu224Phe Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Leu230Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Leu323Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Leu363Pro Single submitter ⚠
- p.Leu414Pro Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Lys315Asn Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Lys53Gln Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met272Val Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Met4Val Single submitter ⚠
- p.Met52Thr Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Phe34Leu Single submitter Inborn genetic diseases ⚠
- p.Phe406Tyr Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Pro145Thr Single submitter Inborn genetic diseases ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro312Ser Single submitter ⚠
- p.Pro344Ser Single submitter ⚠
- p.Pro372Leu Single submitter ⚠
- p.Pro374Leu Single submitter ⚠
- p.Pro416Leu Single submitter Inborn genetic diseases ⚠
- p.Pro61Leu Single submitter ⚠
- p.Ser208Asn Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ser212Thr Single submitter ⚠
- p.Ser256Ala Single submitter ⚠
- p.Ser275Phe Single submitter ⚠
- p.Ser298Gly Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ser405Phe Single submitter ⚠
- p.Ser427Ala Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Ser51Thr Single submitter ⚠
- p.Thr301Ala Single submitter ⚠
- p.Thr365Met Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Thr415fs Single submitter vitamin D-dependent rickets, type 2A
- p.Thr415Met Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Thr8Ser Single submitter ⚠
- p.Tyr366His Single submitter Inborn genetic diseases ⚠
- p.Val100Ala Single submitter vitamin D-dependent rickets, type 2A ⚠
- p.Val20Met Single submitter Inborn genetic diseases ⚠
- p.Val234= Single submitter vitamin D-dependent rickets, type 2A
- p.Arg18Gln No assertion criteria VDR-related disorder ⚠
- p.Cys410Phe No assertion criteria vitamin D-dependent rickets, type 2A ⚠
- p.Met1Arg No assertion criteria vitamin D-dependent rickets, type 2A