Total 69 pathogenic variants reported for Vitamin D-dependent rickets, type 1A 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) SNV
Germline		 Chr12:57766073 Likely pathogenic Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Single Submitter
 CA115124 rs_28934604

2 SubmittersRCV000001725RCV001195100
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) SNV
Germline		 Chr12:57766019 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter
 CA115125 rs_28934605

2 SubmittersRCV000001726
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) SNV
Germline		 Chr12:57764510 Pathogenic Vitamin D-dependent rickets, type 1A No Assertion Criteria Provided
 CA115126 rs_28934606

1 SubmittersRCV000001727
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) SNV
Germline		 Chr12:57764755 Pathogenic Vitamin D-dependent rickets, type 1A No Assertion Criteria Provided
 CA115131 rs_118204007

1 SubmittersRCV000001733
NM_000785.4(CYP27B1):c.589+1G>A SNV
Germline		 Chr12:57765296 Pathogenic Vitamin D-dependent rickets, type 1A
Hepatocellular carcinoma		 Criteria Provided
Single Submitter
 CA212779 rs_761780097

3 SubmittersRCV000001734RCV005887196
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) SNV
Germline		 Chr12:57763798 Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115132 rs_118204008

5 SubmittersRCV000001735RCV001234461
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) SNV
Germline		 Chr12:57764147 Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1
Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115133 rs_118204009

6 SubmittersRCV000001736RCV000481523RCV001195099
NM_000785.4(CYP27B1):c.386+1G>A SNV
Germline		 Chr12:57766006 Likely pathogenic Vitamin D-dependent rickets, type 1A
Condition: not provided		 Criteria Provided
Single Submitter
 CA6658481 rs_770204470

2 SubmittersRCV000001738RCV005089143
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) SNV
Germline		 Chr12:57764148 Pathogenic Vitamin D-dependent rickets, type 1A No Assertion Criteria Provided
 CA115134 rs_118204010

1 SubmittersRCV000001739
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) SNV
Germline		 Chr12:57764487 Pathogenic Vitamin D-dependent rickets, type 1A No Assertion Criteria Provided
 CA115135 rs_118204011

1 SubmittersRCV000001740
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) SNV
Germline		 Chr12:57763738 Pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A
Multiple sclerosis, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588555 rs_568165874

4 SubmittersRCV000255484RCV001329404RCV003987480
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) SNV
Germline		 Chr12:57763666 Pathogenic/Likely pathogenic Condition: not provided
CYP27B1-related disorder
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658146 rs_759208930

4 SubmittersRCV003556305RCV003417870RCV005008226
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) SNV
Germline		 Chr12:57764457 Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
Condition: not provided
Vitamin D-dependent rickets, type 1A
CYP27B1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA6658233 rs_151335249

8 SubmittersRCV000318208RCV001373348RCV002487368RCV003940184RCV005238879
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) SNV
Germline		 Chr12:57765345 Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
Condition: not provided
Vitamin D-dependent rickets, type 1A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6658408 rs_368126466

4 SubmittersRCV000388320RCV001850636RCV002504069RCV002522243
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) SNV
Germline		 Chr12:57763667 Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1A
Multiple sclerosis, susceptibility to
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658147 rs_767480544

5 SubmittersRCV000988872RCV002479154RCV004761850RCV005092978
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) SNV
Germline		 Chr12:57763195 Pathogenic/Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658116 rs_749537609

2 SubmittersRCV001063199RCV002479372
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) SNV
Germline		 Chr12:57763738 Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1A
CYP27B1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6658161 rs_568165874

5 SubmittersRCV001109504RCV003313988RCV004756172RCV005093508
NM_000785.4(CYP27B1):c.196-2A>G SNV
Germline		 Chr12:57766199 Pathogenic/Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658508 rs_772960103

2 SubmittersRCV001227842RCV005012643
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His) SNV
Germline		 Chr12:57763648 Pathogenic/Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658142 rs_762550487

5 SubmittersRCV001304461RCV001823195
NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu) SNV
Germline		 Chr12:57765458 Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385506997 rs_1222556174

4 SubmittersRCV001379078RCV005005229
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter) SNV
Germline		 Chr12:57765483 Pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter
 CA385507207 rs_2140397262

1 SubmittersRCV001780604
NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys) SNV
Germline		 Chr12:57764148 Pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658200 rs_118204010

2 SubmittersRCV001868859RCV005006048
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) SNV
Germline		 Chr12:57766007 Likely pathogenic Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385507516 rs_2140397587

2 SubmittersRCV001843328RCV005006081
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) SNV
Germline		 Chr12:57763792 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter
 CA385501225 rs_2140396224

1 SubmittersRCV001843693
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) SNV
Germline		 Chr12:57765375 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets, type 1A
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6658417 rs_535463729

3 SubmittersRCV001955711RCV002492063RCV004975956
NM_000785.4(CYP27B1):c.170G>T (p.Gly57Val) SNV
Germline		 Chr12:57766872 Pathogenic/Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6658526 rs_376304260

2 SubmittersRCV001949260RCV005635378
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu) SNV
Germline		 Chr12:57766058 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Multiple Submitters
No Conflicts
 CA237815624 rs_1024923221

3 SubmittersRCV002284044
NM_000785.4(CYP27B1):c.657G>C (p.Glu219Asp) SNV
Germline		 Chr12:57765144 Conflicting classifications of pathogenicity Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Conflicting Classifications
 CA6658362 rs_1329710441

2 SubmittersRCV002623462RCV005011049
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg) SNV
Germline		 Chr12:57765022 Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1A
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6658337 rs_752696414

3 SubmittersRCV003388969RCV003549081RCV006262794
NM_000785.4(CYP27B1):c.1294C>T (p.Arg432Cys) SNV
Germline		 Chr12:57763730 Pathogenic/Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA237813692 rs_1029699819

2 SubmittersRCV003557753RCV004801370
NM_000785.4(CYP27B1):c.590-1G>A SNV
Germline		 Chr12:57765212 Likely pathogenic Condition: not provided
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA385505657 rs_1238404973

2 SubmittersRCV003716572RCV005003688
NM_000785.4(CYP27B1):c.196-10G>T SNV
Germline		 Chr12:57766207 Conflicting classifications of pathogenicity Condition: not provided
CYP27B1-related disorder
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Conflicting Classifications
 CA6658511 rs_751574733

3 SubmittersRCV003823908RCV003929361RCV005013218
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu) SNV
Germline		 Chr12:57763648 Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_762550487

3 SubmittersRCV004586045RCV005101985
NM_000785.4(CYP27B1):c.1474C>G (p.Arg492Gly) SNV
Germline		 Chr12:57763195 Conflicting classifications of pathogenicity not specified
Vitamin D-dependent rickets, type 1A		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690605RCV005006487
NM_000785.4(CYP27B1):c.1376G>C (p.Arg459Pro) SNV
Germline		 Chr12:57763648 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690911
NM_000785.4(CYP27B1):c.490G>A (p.Asp164Asn) SNV
Germline		 Chr12:57765396 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV004702898
NM_000785.4(CYP27B1):c.374G>T (p.Gly125Val) SNV
Germline		 Chr12:57766019 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV004703019
NM_000785.4(CYP27B1):c.1321C>T (p.His441Tyr) SNV
Germline		 Chr12:57763703 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005011441
NM_000785.4(CYP27B1):c.1261C>T (p.Gln421Ter) SNV
Germline		 Chr12:57763763 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005011446
NM_000785.4(CYP27B1):c.1216-1G>A SNV
Germline		 Chr12:57763809 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005011447
NM_000785.4(CYP27B1):c.227G>A (p.Trp76Ter) SNV
Germline		 Chr12:57766166 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005011465
NM_000785.4(CYP27B1):c.3G>A (p.Met1Ile) SNV
Germline		 Chr12:57767039 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005004893
NM_000785.4(CYP27B1):c.1034C>G (p.Ser345Ter) SNV
Germline		 Chr12:57764480 Likely pathogenic Vitamin D-dependent rickets, type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005208370