Total 60 pathogenic variants reported for Vitamin D-dependent rickets type II with alopecia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000376.3(VDR):c.98G>A (p.Gly33Asp) SNV
Germline		 Chr12:47879016 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119018 rs_121909790

1 SubmittersRCV000008186
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) SNV
Germline		 Chr12:47865106 Pathogenic/Likely pathogenic Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119020 rs_121909791

5 SubmittersRCV000008187RCV000522189
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) SNV
Germline		 Chr12:47846679 Pathogenic Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119022 rs_121909792

6 SubmittersRCV000008188RCV003555968
NM_000376.3(VDR):c.985G>A (p.Glu329Lys) SNV
Germline		 Chr12:47846374 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119024 rs_121909802

1 SubmittersRCV000008189
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) SNV
Germline		 Chr12:47865085 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA119026 rs_121909793

3 SubmittersRCV000008190RCV002512895
NM_000376.3(VDR):c.149G>A (p.Arg50Gln) SNV
Germline		 Chr12:47865175 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119028 rs_121909794

1 SubmittersRCV000008191
NM_000376.3(VDR):c.454C>T (p.Gln152Ter) SNV
Germline		 Chr12:47857512 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119030 rs_121909795

1 SubmittersRCV000008192
NM_000376.3(VDR):c.821G>T (p.Arg274Leu) SNV
Germline		 Chr12:47846743 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119032 rs_121909796

1 SubmittersRCV000008193
NM_000376.3(VDR):c.137G>A (p.Gly46Asp) SNV
Germline		 Chr12:47878977 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119034 rs_121909797

1 SubmittersRCV000008194
NM_000376.3(VDR):c.915C>G (p.His305Gln) SNV
Germline		 Chr12:47846444 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA119036 rs_121909798

1 SubmittersRCV000008195
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) SNV
Germline		 Chr12:47844859 Pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter
 CA119040 rs_121909800

2 SubmittersRCV000008197
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) SNV
Germline		 Chr12:47879026 Pathogenic Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119042 rs_121909801

7 SubmittersRCV000008198RCV003555969
NM_000376.3(VDR):c.1036G>A (p.Val346Met) SNV
Germline		 Chr12:47844994 Likely pathogenic Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119044 rs_267607169

4 SubmittersRCV000008200RCV001818143
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) SNV
Germline		 Chr7:142750600 Pathogenic Hereditary pancreatitis
Trypsinogen deficiency
Hereditary pancreatitis
Vitamin D-dependent rickets type II with alopecia
Myoepithelial tumor
Condition: not provided
PRSS1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341152 rs_111033566

20 SubmittersRCV000012652RCV000763166RCV001507089RCV002463587RCV003103713RCV004754255
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) SNV
Germline		 Chr10:13283784 Conflicting classifications of pathogenicity not specified
Phytanic acid storage disease
Nonsyndromic cleft lip palate
Condition: not provided
Vitamin D-dependent rickets type II with alopecia
Retinal dystrophy
Gastric cancer
Melanoma
Acute myeloid leukemia
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA203488 rs_62619919

15 SubmittersRCV000179914RCV000665931RCV000755125RCV000950185RCV001258288RCV004816303RCV005892046RCV005892047RCV005892043RCV005892044RCV005892045
NM_000376.3(VDR):c.1190A>C (p.His397Pro) SNV
Germline		 Chr12:47844840 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA10588004 rs_886037890

1 SubmittersRCV000243398
NM_000376.3(VDR):c.1171C>A (p.Arg391Ser) SNV
Germline		 Chr12:47844859 Pathogenic Vitamin D-dependent rickets type II with alopecia No Assertion Criteria Provided
 CA10588005 rs_121909800

1 SubmittersRCV000251590
NM_000376.3(VDR):c.*184T>G SNV
Germline		 Chr12:47844562 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
VDR-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10632861 rs_11574116

3 SubmittersRCV000278062RCV003920281RCV002285307
NM_000376.3(VDR):c.1134G>T (p.Leu378=) SNV
Germline		 Chr12:47844896 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533736 rs_199583004

2 SubmittersRCV000399860RCV002520807
NM_000376.3(VDR):c.1048G>A (p.Ala350Thr) SNV
Germline		 Chr12:47844982 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6533769 rs_148856375

4 SubmittersRCV000269516RCV000899965RCV005771966
NM_000376.3(VDR):c.909C>T (p.Ala303=) SNV
Germline		 Chr12:47846450 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533813 rs_12721365

6 SubmittersRCV000365146RCV000503994RCV000904798
NM_000376.3(VDR):c.1152C>A (p.Ile384=) SNV
Germline		 Chr12:47844878 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533733 rs_753086299

2 SubmittersRCV000357719RCV001465378
NM_000376.3(VDR):c.278-5C>T SNV
Germline		 Chr12:47857693 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided
VDR-related disorder		 Criteria Provided
Conflicting Classifications
 CA6533975 rs_551270527

3 SubmittersRCV000295225RCV001515267RCV003910139
NM_000376.3(VDR):c.2T>C (p.Met1Thr) SNV
Germline		 Chr12:47879112 Conflicting classifications of pathogenicity not specified
Vitamin D-dependent rickets type II with alopecia
Condition: not provided
Periodontitis		 Criteria Provided
Conflicting Classifications
 CA6534113 rs_2228570

14 SubmittersRCV000601968RCV000988816RCV001512350RCV003992273
NM_000376.3(VDR):c.1131C>T (p.His377=) SNV
Germline		 Chr12:47844899 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533737 rs_201868713

2 SubmittersRCV000304779RCV002056295
NM_000376.3(VDR):c.908-14A>G SNV
Germline		 Chr12:47846465 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6533816 rs_11574107

3 SubmittersRCV000272820RCV001512939RCV004767225
NM_000376.3(VDR):c.889G>A (p.Val297Ile) SNV
Germline		 Chr12:47846675 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533838 rs_144756403

5 SubmittersRCV000330185RCV002520808RCV001351354
NM_000376.3(VDR):c.755+13T>C SNV
Germline		 Chr12:47855617 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533870 rs_768024598

2 SubmittersRCV000387144RCV003765809
NM_000376.3(VDR):c.1027C>T (p.Arg343Cys) SNV
Germline		 Chr12:47845003 Likely pathogenic Condition: not provided
Vitamin D-dependent rickets type II with alopecia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16606541 rs_1057521095

3 SubmittersRCV000421461RCV004689734
NM_000376.3(VDR):c.933G>A (p.Glu311=) SNV
Germline		 Chr12:47846426 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
not specified		 Criteria Provided
Conflicting Classifications
 CA6533809 rs_150775215

5 SubmittersRCV000879207RCV001113701RCV004596367
NM_000376.3(VDR):c.1073G>A (p.Arg358His) SNV
Germline		 Chr12:47844957 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
VDR-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA6533758 rs_114678556

4 SubmittersRCV000901691RCV001112346RCV003922981RCV005236416
NM_000376.3(VDR):c.429C>T (p.Tyr143=) SNV
Germline		 Chr12:47857537 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia		 Criteria Provided
Conflicting Classifications
 CA6533948 rs_140864473

2 SubmittersRCV000908724RCV001109681
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile) SNV
Germline		 Chr12:47844945 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
not specified		 Criteria Provided
Conflicting Classifications
 CA6533756 rs_11574115

4 SubmittersRCV000932081RCV001112345RCV003479251
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) SNV
Germline		 Chr12:47846343 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
not specified		 Criteria Provided
Conflicting Classifications
 CA6533801 rs_187843998

5 SubmittersRCV001066237RCV001112347RCV003490054
NM_000376.3(VDR):c.*222G>C SNV
Germline		 Chr12:47844524 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA236505761 rs_11574117

2 SubmittersRCV001109594RCV002285443
NM_000376.3(VDR):c.1098C>T (p.Tyr366=) SNV
Germline		 Chr12:47844932 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6533752 rs_34189316

3 SubmittersRCV001112343RCV002556193RCV003994214
NM_000376.3(VDR):c.1095G>A (p.Thr365=) SNV
Germline		 Chr12:47844935 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533753 rs_578013785

3 SubmittersRCV001112344RCV002556194
NM_000376.3(VDR):c.972C>T (p.Asn324=) SNV
Germline		 Chr12:47846387 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533807 rs_754559635

2 SubmittersRCV001113700RCV002556217
NM_000376.3(VDR):c.64C>T (p.Arg22Trp) SNV
Germline		 Chr12:47879050 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6534088 rs_199929033

5 SubmittersRCV001111983RCV001480220
NM_000376.3(VDR):c.52C>T (p.Arg18Trp) SNV
Germline		 Chr12:47879062 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia
Condition: not provided
not specified
VDR-related disorder		 Criteria Provided
Conflicting Classifications
 CA6534099 rs_147496897

5 SubmittersRCV001111985RCV001236577RCV004702644RCV004756173
NM_000376.3(VDR):c.821G>A (p.Arg274His) SNV
Germline		 Chr12:47846743 Pathogenic/Likely pathogenic Condition: not provided
Vitamin D-dependent rickets type II with alopecia
Rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384516583 rs_121909796

7 SubmittersRCV001169944RCV001843570RCV004798889
NM_000376.3(VDR):c.803T>C (p.Ile268Thr) SNV
Germline		 Chr12:47846761 Conflicting classifications of pathogenicity Familial adenomatous polyposis 2
Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384516696 rs_1164008328

3 SubmittersRCV001507088RCV004550273RCV005094651
NM_000376.3(VDR):c.156G>T (p.Met52Ile) SNV
Germline		 Chr12:47865168 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534014 rs_200041268

5 SubmittersRCV001555738RCV003983977RCV002568355
NM_000376.3(VDR):c.1025-49G>T SNV
Germline		 Chr12:47845054 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
Hepatocellular carcinoma
Periodontitis		 Criteria Provided
Conflicting Classifications
 CA6533788 rs_7975232

6 SubmittersRCV001658528RCV002243375RCV002274199RCV003992537
NM_000376.3(VDR):c.148C>T (p.Arg50Ter) SNV
Germline		 Chr12:47865176 Pathogenic Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384511783 rs_201106427

3 SubmittersRCV001843694RCV002034718
NM_000376.3(VDR):c.-45A>G SNV
Germline		 Chr12:47882736 Likely pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter
 CA6534134 rs_752414831

1 SubmittersRCV001843695
NM_000376.3(VDR):c.519A>T (p.Arg173Ser) SNV
Germline		 Chr12:47857193 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6533922 rs_199620286

3 SubmittersRCV001944143RCV002479490RCV004970573
NM_000376.3(VDR):c.775C>G (p.Gln259Glu) SNV
Germline		 Chr12:47846789 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets type II with alopecia		 Criteria Provided
Conflicting Classifications
 CA6533856 rs_149122494

2 SubmittersRCV001918299RCV005006206
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) SNV
Germline		 Chr12:47865107 Pathogenic Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236476911 rs_980041568

4 SubmittersRCV002246806RCV003560888
NM_000376.3(VDR):c.1172G>A (p.Arg391His) SNV
Germline		 Chr12:47844858 Pathogenic Condition: not provided
Vitamin D-dependent rickets type II with alopecia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6533730 rs_776088779

2 SubmittersRCV003062490RCV004796759
NM_000376.3(VDR):c.146+1G>T SNV
Germline		 Chr12:47878967 Likely pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter
 CA384514669 rs_2540017090

1 SubmittersRCV003134705
NM_000376.3(VDR):c.856T>C (p.Trp286Arg) SNV
Germline		 Chr12:47846708 Pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter
 CA384516392 rs_2539969247

1 SubmittersRCV003236657
NM_000376.3(VDR):c.575C>G (p.Thr192Ser) SNV
Germline		 Chr12:47857137 Conflicting classifications of pathogenicity Inborn genetic diseases
Vitamin D-dependent rickets type II with alopecia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6533914 rs_540774973

3 SubmittersRCV003260352RCV005012842RCV006474147
NM_000376.3(VDR):c.985G>C (p.Glu329Gln) SNV
Germline		 Chr12:47846374 Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia Criteria Provided
Conflicting Classifications
 CA384515475 rs_121909802

2 SubmittersRCV003340994
NM_000376.3(VDR):c.-2-1G>A SNV
Germline		 Chr12:47879116 Likely pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter
 CA384515390 rs_2540017785

1 SubmittersRCV003486511
NM_000376.3(VDR):c.1024+1G>A SNV
Germline		 Chr12:47846334 Likely pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter

1 SubmittersRCV005009057
NM_000376.3(VDR):c.1153C>T (p.Gln385Ter) SNV
Germline		 Chr12:47844877 Likely pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter

1 SubmittersRCV005252545
NM_000376.3(VDR):c.379G>T (p.Glu127Ter) SNV
Germline		 Chr12:47857587 Likely pathogenic Vitamin D-dependent rickets type II with alopecia Criteria Provided
Single Submitter

1 SubmittersRCV005623280