Total 99 pathogenic variants reported for Deficiency of steroid 17-alpha-monooxygenase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) SNV
Germline		 Chr10:102835374 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
CYP17A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115179 rs_104894135

7 SubmittersRCV000001852RCV000288112RCV000763211RCV003914797
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) SNV
Germline		 Chr10:102834074 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
Breast cancer, susceptibility to
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115180 rs_104894136

6 SubmittersRCV000001854RCV000001855RCV000497599RCV000709946
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) SNV
Germline		 Chr10:102837076 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115183 rs_104894138

8 SubmittersRCV000001858RCV000255053RCV000501502RCV003114170
NM_000102.4(CYP17A1):c.1243+5G>A SNV
Germline		 Chr10:102831503 Likely pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Single Submitter
 CA913190083 rs_1564777724

2 SubmittersRCV000001859RCV004566670
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) SNV
Germline		 Chr10:102832610 Pathogenic 17,20-lyase deficiency, isolated
Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115184 rs_61754278

7 SubmittersRCV000001860RCV000185577RCV001387555
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) SNV
Germline		 Chr10:102832577 Pathogenic/Likely pathogenic 17,20-lyase deficiency, isolated
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115185 rs_104894139

4 SubmittersRCV000001861RCV001851566RCV003466780RCV001804710
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) SNV
Germline		 Chr10:102832611 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
Congenital adrenal hyperplasia
Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115191 rs_104894149

7 SubmittersRCV000001867RCV001804711RCV002221463RCV003555893RCV003988818
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) SNV
Germline		 Chr10:102832566 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia
CYP17A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115192 rs_104894142

7 SubmittersRCV000001869RCV000810182RCV001831505RCV003114171RCV003415624
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg) SNV
Germline		 Chr10:102831535 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115193 rs_104894143

3 SubmittersRCV000001870RCV001851567RCV003466781
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu) SNV
Germline		 Chr10:102830946 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115195 rs_104894145

4 SubmittersRCV000001872RCV001220851RCV001831506
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) SNV
Germline		 Chr10:102837075 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115200 rs_104894153

6 SubmittersRCV000001875RCV001067683RCV003460404RCV002298430
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) SNV
Germline		 Chr10:102835316 Pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115201 rs_104894154

4 SubmittersRCV000001876RCV001376810RCV001826403
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) SNV
Germline		 Chr10:102830982 Pathogenic/Likely pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
Condition: not provided
CYP17A1-related disorder
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115203 rs_104894155

5 SubmittersRCV000001877RCV000822737RCV003398415RCV003225015
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) SNV
Germline		 Chr10:102830960 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5669346 rs_554217514

3 SubmittersRCV000292817RCV000907356
NM_000102.4(CYP17A1):c.298-11G>C SNV
Germline		 Chr10:102835403 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5669599 rs_188885755

2 SubmittersRCV000306750RCV002520533
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) SNV
Germline		 Chr10:102837300 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
CYP17A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA5669659 rs_61754263

7 SubmittersRCV000303229RCV000488920RCV001249435RCV003401284
NM_000102.4(CYP17A1):c.-14G>A SNV
Germline		 Chr10:102837375 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5669668 rs_17115125

2 SubmittersRCV000357830RCV001689985
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) SNV
Germline		 Chr10:102831589 Pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16616913 rs_1060499582

3 SubmittersRCV000477958RCV001387553
NM_000102.4(CYP17A1):c.297+2T>C SNV
Germline		 Chr10:102837063 Pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669613 rs_764723654

6 SubmittersRCV000498324RCV000709945
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) SNV
Germline		 Chr10:102831510 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 CA377938402 rs_1554879846

1 SubmittersRCV000500014
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu) SNV
Germline		 Chr10:102832532 Pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669401 rs_760695410

4 SubmittersRCV000809884RCV001830766
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) SNV
Germline		 Chr10:102837361 Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377941185 rs_1590204913

3 SubmittersRCV000806853RCV001830758
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) SNV
Germline		 Chr10:102832663 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Conflicting Classifications
 CA5669422 rs_374769118

2 SubmittersRCV000943563RCV001104162
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) SNV
Germline		 Chr10:102830741 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5669310 rs_539435111

2 SubmittersRCV001104158RCV001423995
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=) SNV
Germline		 Chr10:102832516 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided
CYP17A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA5669397 rs_772903405

3 SubmittersRCV001104159RCV001481474RCV003918679
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) SNV
Germline		 Chr10:102832631 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Conflicting Classifications
 CA5669414 rs_765987481

2 SubmittersRCV001104160
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=) SNV
Germline		 Chr10:102837262 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5669654 rs_145117545

2 SubmittersRCV001107595RCV001501093
NM_000102.4(CYP17A1):c.753+13G>A SNV
Germline		 Chr10:102834023 Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5669482 rs_201956379

2 SubmittersRCV001106933RCV002556094
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) SNV
Germline		 Chr10:102832565 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669407 rs_752811843

3 SubmittersRCV001211018RCV001833850
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) SNV
Germline		 Chr10:102834791 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
CYP17A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212293774 rs_879802265

4 SubmittersRCV001233983RCV002497801RCV004749630
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter) SNV
Germline		 Chr10:102835328 Pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212294483 rs_942376359

3 SubmittersRCV003058265RCV003465920
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu) SNV
Germline		 Chr10:102831525 Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669370 rs_367833709

3 SubmittersRCV003469628RCV004782730RCV001377631
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr) SNV
Germline		 Chr10:102832533 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938701 rs_1423560123

4 SubmittersRCV001376807RCV001826120RCV004699349
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp) SNV
Germline		 Chr10:102832533 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938702 rs_1423560123

4 SubmittersRCV001376808RCV001826121
NM_000102.4(CYP17A1):c.753+1G>A SNV
Germline		 Chr10:102834035 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377939515 rs_1844126291

2 SubmittersRCV001376809RCV003469620
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter) SNV
Germline		 Chr10:102832578 Pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938791 rs_2134082367

3 SubmittersRCV001387554RCV001826177
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) SNV
Germline		 Chr10:102831525 Pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided
CYP17A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669371 rs_367833709

5 SubmittersRCV001780601RCV001885149RCV003401710
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter) SNV
Germline		 Chr10:102834871 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377939912 rs_1173000590

3 SubmittersRCV001868834RCV003470899
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His) SNV
Germline		 Chr10:102830910 Pathogenic Condition: not provided
Congenital adrenal hyperplasia
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669340 rs_777638364

4 SubmittersRCV001817895RCV003323935RCV003470931
NM_000102.4(CYP17A1):c.1306G>A (p.Gly436Arg) SNV
Germline		 Chr10:102830923 Pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669342 rs_757083287

3 SubmittersRCV001953856RCV004571738
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu) SNV
Germline		 Chr10:102834930 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377940043 rs_752540777

2 SubmittersRCV001953440RCV003317561
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys) SNV
Germline		 Chr10:102830743 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377937874 rs_1250463562

3 SubmittersRCV002031813RCV003471287
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys) SNV
Germline		 Chr10:102830884 Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669339 rs_371825363

2 SubmittersRCV002045625RCV003471269
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn) SNV
Germline		 Chr10:102832533 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938703 rs_1423560123

4 SubmittersRCV001963236RCV002221694
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) SNV
Germline		 Chr10:102837359 Likely pathogenic Congenital adrenal hyperplasia
Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212296265 rs_61754262

3 SubmittersRCV002223055RCV003774647RCV002502035
NM_000102.4(CYP17A1):c.666+2T>C SNV
Germline		 Chr10:102834783 Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669511 rs_760032797

2 SubmittersRCV002667959RCV003465813
NM_000102.4(CYP17A1):c.1346G>A (p.Arg449His) SNV
Germline		 Chr10:102830883 Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669338 rs_752164207

2 SubmittersRCV002795735RCV004571254
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln) SNV
Germline		 Chr10:102834073 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Multiple Submitters
No Conflicts
 CA5669490 rs_773278607

2 SubmittersRCV003143879
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr) SNV
Germline		 Chr10:102832538 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Conflicting Classifications
 CA5669403 rs_766043032

3 SubmittersRCV003317699RCV003459828
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val) SNV
Germline		 Chr10:102831558 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938517 rs_1315561755

2 SubmittersRCV003468627RCV003553985
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=) SNV
Germline		 Chr10:102830966 Pathogenic/Likely pathogenic Condition: not provided
Congenital adrenal hyperplasia
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669348 rs_769188557

3 SubmittersRCV003553986RCV004765854RCV003468628
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu) SNV
Unknown		 Chr10:102830928 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 CA377938264 rs_2493234394

1 SubmittersRCV003468632
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr) SNV
Germline		 Chr10:102832655 Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669417 rs_772804570

2 SubmittersRCV003468633RCV005100265
NM_000102.4(CYP17A1):c.437-1G>A SNV
Unknown		 Chr10:102835015 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 CA377940234 rs_2493242260

1 SubmittersRCV003468635
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr) SNV
Germline		 Chr10:102833075 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669453 rs_531000872

2 SubmittersRCV003468638RCV003738477
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter) SNV
Unknown		 Chr10:102830848 Pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 CA377938101 rs_2493234210

1 SubmittersRCV003468639
NM_000102.4(CYP17A1):c.1244-1G>C SNV
Unknown		 Chr10:102830986 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 CA377938389 rs_908660542

1 SubmittersRCV003468640
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp) SNV
Germline		 Chr10:102837117 Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377940669 rs_2493245623

2 SubmittersRCV003468643RCV003553987
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His) SNV
Germline		 Chr10:102830742 Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5669311 rs_763398879

2 SubmittersRCV003468646RCV003553988
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter) SNV
Unknown		 Chr10:102830815 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 CA5669323 rs_746813353

1 SubmittersRCV003468651
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys) SNV
Germline		 Chr10:102830911 Pathogenic Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938232 rs_868228603

3 SubmittersRCV003468654RCV004690417RCV003575109
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter) SNV
Germline		 Chr10:102832663 Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938974 rs_374769118

2 SubmittersRCV003468655RCV003992773
NM_000102.4(CYP17A1):c.1246C>T (p.Arg416Cys) SNV
Germline		 Chr10:102830983 Pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377938381 rs_1178684770

2 SubmittersRCV003557533RCV004574102
NM_000102.4(CYP17A1):c.298-2A>G SNV
Germline		 Chr10:102835394 Likely pathogenic Condition: not provided
Deficiency of steroid 17-alpha-monooxygenase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA377940546 rs_1366534270

2 SubmittersRCV003666071RCV004574164
NM_000102.4(CYP17A1):c.1169C>G (p.Thr390Arg) SNV
Germline		 Chr10:102831582 Pathogenic Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia		 Criteria Provided
Single Submitter
 CA5669380 rs_773865367

2 SubmittersRCV004549038RCV004690508
NM_000102.4(CYP17A1):c.938G>A (p.Trp313Ter) SNV
Unknown		 Chr10:102833024 Pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 rs_2493238663

1 SubmittersRCV004575749
NM_000102.4(CYP17A1):c.418C>T (p.Gln140Ter) SNV
Unknown		 Chr10:102835272 Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase Criteria Provided
Single Submitter
 rs_2493243005

1 SubmittersRCV004575750
NM_000102.4(CYP17A1):c.863C>A (p.Ser288Ter) SNV
Germline		 Chr10:102833099 Pathogenic Deficiency of steroid 17-alpha-monooxygenase No Assertion Criteria Provided

1 SubmittersRCV005618991
NM_000102.4(CYP17A1):c.970-2A>G SNV
Germline		 Chr10:102832682 Pathogenic Deficiency of steroid 17-alpha-monooxygenase No Assertion Criteria Provided

1 SubmittersRCV005618994