Total 117 pathogenic variants reported for Congenital adrenal hypoplasia, X-linked 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) SNV
Germline		 ChrX:30308517 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255615 rs_104894890

1 SubmittersRCV000011696
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) SNV
Germline		 ChrX:30308257 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255617 rs_104894886

1 SubmittersRCV000011697
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) SNV
Germline		 ChrX:30308576 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255619 rs_104894887

1 SubmittersRCV000011698
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) SNV
Germline		 ChrX:30308564 Pathogenic/Likely pathogenic Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255621 rs_104894888

3 SubmittersRCV000011699RCV001851797
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) SNV
Germline		 ChrX:30308660 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255622 rs_104894889

1 SubmittersRCV000011700
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) SNV
Germline		 ChrX:30308851 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255624 rs_104894891

1 SubmittersRCV000011701
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) SNV
Germline		 ChrX:30309091 Pathogenic Congenital adrenal hypoplasia, X-linked
Condition: not provided		 Criteria Provided
Single Submitter
 CA255626 rs_104894892

3 SubmittersRCV000011703RCV000413730
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) SNV
Germline		 ChrX:30304673 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255628 rs_28935481

1 SubmittersRCV000011704
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) SNV
Germline		 ChrX:30304809 Pathogenic Congenital adrenal hypoplasia, X-linked
Condition: not provided		 Criteria Provided
Single Submitter
 CA255629 rs_104894894

2 SubmittersRCV000011705RCV000481802
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) SNV
Germline		 ChrX:30308551 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255631 rs_104894895

1 SubmittersRCV000011706
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) SNV
Germline		 ChrX:30308218 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255633 rs_104894896

1 SubmittersRCV000011711
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) SNV
Germline		 ChrX:30308491 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255634 rs_28935482

1 SubmittersRCV000011712
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) SNV
Germline		 ChrX:30308773 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255635 rs_104894898

1 SubmittersRCV000011715
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) SNV
Germline		 ChrX:30304676 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255637 rs_104894897

1 SubmittersRCV000011716
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) SNV
Germline		 ChrX:30308222 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255638 rs_104894899

1 SubmittersRCV000011718
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) SNV
Germline		 ChrX:30308226 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255639 rs_104894900

1 SubmittersRCV000011720
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) SNV
Germline		 ChrX:30304795 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255640 rs_104894906

1 SubmittersRCV000011722
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) SNV
Germline		 ChrX:30309255 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA255643 rs_104894908

1 SubmittersRCV000011724
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) SNV
Germline		 ChrX:30309049 Conflicting classifications of pathogenicity Mineralocorticoid deficiency, isolated
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Conflicting Classifications
 CA121280 rs_132630327

3 SubmittersRCV000011725RCV002496328
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) SNV
Germline		 ChrX:30308270 Likely pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA260497 rs_386134262

1 SubmittersRCV000030343
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) SNV
Germline		 ChrX:30308223 Pathogenic/Likely pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Multiple Submitters
No Conflicts
 CA260499 rs_386134263

2 SubmittersRCV000030344
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile) SNV
Germline		 ChrX:30304718 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA263240 rs_387907373

1 SubmittersRCV000049288
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) SNV
Germline		 ChrX:30308988 Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
not specified
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2
Condition: not provided
NR0B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10376402 rs_193205940

8 SubmittersRCV000490511RCV000614813RCV000864291RCV001574018RCV004530263
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) SNV
Germline		 ChrX:30309248 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA412549440 rs_1569269179

1 SubmittersRCV000239459
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) SNV
Germline		 ChrX:30309348 Conflicting classifications of pathogenicity Condition: not provided
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10376460 rs_191365011

3 SubmittersRCV000871426RCV002061448RCV002521529
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) SNV
Germline		 ChrX:30308516 Likely pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA16609844 rs_1060499835

1 SubmittersRCV000462560
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) SNV
Germline		 ChrX:30308656 Pathogenic Condition: not provided
Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412548049 rs_1131691564

4 SubmittersRCV000493558RCV000584087RCV000763207
NM_000475.5(NR0B1):c.1169-1G>A SNV
Germline		 ChrX:30304824 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412545777 rs_1555972666

1 SubmittersRCV000512813
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) SNV
Germline		 ChrX:30308492 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412547493 rs_1489209061

1 SubmittersRCV000512779
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) SNV
Germline		 ChrX:30308493 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412547499 rs_1555973021

1 SubmittersRCV000513186
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) SNV
Germline		 ChrX:30308520 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412547624 rs_1555973031

1 SubmittersRCV000513603
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) SNV
Germline		 ChrX:30308542 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412547728 rs_753734546

1 SubmittersRCV000513001
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) SNV
Germline		 ChrX:30308591 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412547912 rs_1555973058

1 SubmittersRCV000513598
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) SNV
Germline		 ChrX:30308599 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412547933 rs_1311271225

1 SubmittersRCV000512986
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) SNV
Germline		 ChrX:30308849 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412548598 rs_1555973132

1 SubmittersRCV000513478
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) SNV
Germline		 ChrX:30309037 Pathogenic Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412548991 rs_1555973172

3 SubmittersRCV000512882RCV001865679
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) SNV
Germline		 ChrX:30309049 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412549019 rs_132630327

1 SubmittersRCV000513037
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) SNV
Germline		 ChrX:30308463 Pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Single Submitter
 CA412547374 rs_1555973010

1 SubmittersRCV000528817
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) SNV
Germline		 ChrX:30308848 Pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412548596 rs_1555973131

3 SubmittersRCV000540337RCV001375576RCV004592561
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) SNV
Germline		 ChrX:30304652 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA412544426 rs_1555972641

1 SubmittersRCV000583254
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) SNV
Germline		 ChrX:30308222 Likely pathogenic Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Single Submitter
 CA412546292 rs_104894899

2 SubmittersRCV000584385RCV000635250
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) SNV
Germline		 ChrX:30308412 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA412547185 rs_1555972994

1 SubmittersRCV000581862
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) SNV
Germline		 ChrX:30308558 Pathogenic Congenital adrenal hypoplasia, X-linked No Assertion Criteria Provided
 CA412547801 rs_1555973045

1 SubmittersRCV000583015
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) SNV
Germline		 ChrX:30308836 Pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Single Submitter
 CA412548571 rs_767828388

1 SubmittersRCV000703137
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) SNV
Germline		 ChrX:30308445 Pathogenic Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412547279 rs_1324519932

3 SubmittersRCV000722070RCV000797777
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) SNV
Germline		 ChrX:30308819 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Conflicting Classifications
 CA10376380 rs_761749382

2 SubmittersRCV002546047RCV003768918
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) SNV
Germline		 ChrX:30304581 Likely pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412544258 rs_1926485824

2 SubmittersRCV001257092RCV005213508
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) SNV
Germline		 ChrX:30309138 Pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Single Submitter
 CA412549204 rs_2147007353

1 SubmittersRCV001389323
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) SNV
Germline		 ChrX:30308895 Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10376396 rs_776059398

3 SubmittersRCV001467108RCV004641653
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) SNV
Germline		 ChrX:30308667 Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Conflicting Classifications
 CA10376363 rs_761762294

2 SubmittersRCV001947631
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter) SNV
Unknown		 ChrX:30304791 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412545617 rs_764476639

1 SubmittersRCV002286488
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter) SNV
Germline		 ChrX:30309300 Likely pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412549544 rs_2519052221

1 SubmittersRCV002289390
NM_000475.5(NR0B1):c.1A>G (p.Met1Val) SNV
Germline		 ChrX:30309363 Likely pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412549696 rs_2519052283

1 SubmittersRCV002471545
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val) SNV
Germline		 ChrX:30308465 Likely pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Single Submitter
 CA412547377 rs_2519051075

1 SubmittersRCV003064682
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter) SNV
Germline		 ChrX:30309072 Pathogenic Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Single Submitter
 CA412549064 rs_2519051933

1 SubmittersRCV003041429
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu) SNV
Germline		 ChrX:30308324 Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10376316 rs_201996833

2 SubmittersRCV002615735RCV005455712
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp) SNV
Germline		 ChrX:30308425 Conflicting classifications of pathogenicity 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA327975933 rs_377428336

2 SubmittersRCV002805872RCV005375174
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter) SNV
Germline		 ChrX:30308959 Pathogenic 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Single Submitter
 CA412548834 rs_1214621343

1 SubmittersRCV002857196
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr) SNV
Germline		 ChrX:30308331 Conflicting classifications of pathogenicity 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10376318 rs_140259346

2 SubmittersRCV003778602RCV002749386
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala) SNV
Germline		 ChrX:30304773 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital adrenal hypoplasia, X-linked
46,XY sex reversal 2		 Criteria Provided
Conflicting Classifications
 CA10376276 rs_753227889

2 SubmittersRCV003280220RCV003779916
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter) SNV
Unknown		 ChrX:30308758 Likely pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412548276 rs_373712795

1 SubmittersRCV003314430
NM_000475.5(NR0B1):c.1169-1G>T SNV
Germline		 ChrX:30304824 Pathogenic Congenital adrenal hypoplasia, X-linked Criteria Provided
Single Submitter
 CA412545773 rs_1555972666

1 SubmittersRCV003335926
NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly) SNV
Germline		 ChrX:30304719 Pathogenic NR0B1-related disorder
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412545186 rs_2519049376

2 SubmittersRCV004529799RCV004786933
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter) SNV
Germline		 ChrX:30308700 Pathogenic 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Single Submitter
 CA412548143 rs_2519051360

1 SubmittersRCV003783757
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter) SNV
Germline		 ChrX:30309339 Pathogenic 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Single Submitter
 CA412549635 rs_1191878631

1 SubmittersRCV003779429
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter) SNV
Germline		 ChrX:30308260 Pathogenic 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Single Submitter
 CA412546492 rs_2519050843

1 SubmittersRCV003795203
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=) SNV
Germline		 ChrX:30308200 Conflicting classifications of pathogenicity 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked		 Criteria Provided
Conflicting Classifications
 CA515717389 rs_1334705963

2 SubmittersRCV003809065
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln) SNV
Germline		 ChrX:30309083 Conflicting classifications of pathogenicity 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10376416 rs_749226179

2 SubmittersRCV003809324RCV005377570
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro) SNV
Germline		 ChrX:30308856 Conflicting classifications of pathogenicity 46,XY sex reversal 2
Congenital adrenal hypoplasia, X-linked
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA412548613 rs_1248710856

2 SubmittersRCV003802092RCV005445966