Total 86 pathogenic variants reported for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 
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.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_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV
Germline		 Chr6:32039426 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Inborn genetic diseases
Condition: not provided
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341179 rs_6475

23 SubmittersRCV000012933RCV000622562RCV000711382RCV003226157
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV
Germline		 Chr6:32040110 Pathogenic/Likely pathogenic Adenoma, cortisol-producing
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Carcinoma, adrenocortical, androgen-secreting
Inborn genetic diseases
Congenital adrenal hyperplasia
Condition: not provided
CYP21A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121919 rs_6471

34 SubmittersRCV000012935RCV000012934RCV000012936RCV000210728RCV001804725RCV000711385RCV003407320
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) SNV
Germline		 Chr6:32038514 Pathogenic/Likely pathogenic Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341183 rs_9378251

16 SubmittersRCV000711390RCV000012938
NM_000500.9(CYP21A2):c.293-13C>G SNV
Germline		 Chr6:32039081 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Inborn genetic diseases
Condition: not provided
Congenital adrenal hyperplasia
See cases		 Criteria Provided
Conflicting Classifications
 CA341185 rs_6467

35 SubmittersRCV000012939RCV000624227RCV000711376RCV004556714RCV004584324
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) SNV
Germline		 Chr6:32040140 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256231 rs_201552310

4 SubmittersRCV000012940RCV000711386
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV
Germline		 Chr6:32041006 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided
CYP21A2-related disorder
Congenital lipoid adrenal hyperplasia due to STAR deficency
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341186 rs_6445

30 SubmittersRCV000012943RCV000711371RCV003924827RCV002288483RCV003985261
NM_000500.9(CYP21A2):c.939+1G>C SNV
Germline		 Chr6:32040206 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363507693 rs_1474566961

1 SubmittersRCV000012950
NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His) SNV
Germline		 Chr6:32040485 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA3732614 rs_72552754

1 SubmittersRCV003318405
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) SNV
Germline		 Chr6:32040766 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA256234 rs_151344503

2 SubmittersRCV000012953RCV001851812
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV
Germline		 Chr6:32039810 Conflicting classifications of pathogenicity Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia		 Criteria Provided
Conflicting Classifications
 CA358442 rs_12530380

6 SubmittersRCV001269963RCV002250459RCV002298442
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) SNV
Germline		 Chr6:32040926 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA136895676 rs_151344504

3 SubmittersRCV000012957RCV003390673RCV001851813
NM_000500.9(CYP21A2):c.293-2A>G SNV
Germline		 Chr6:32039092 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363500654 rs_1582302625

1 SubmittersRCV000012959
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) SNV
Germline		 Chr6:32040871 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3732711 rs_72552757

4 SubmittersRCV000012961RCV002472928
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) SNV
Germline		 Chr6:32038610 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
not specified
Congenital adrenal hyperplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA200316 rs_9378252

9 SubmittersRCV000012965RCV000173141RCV002307363RCV002472929
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) SNV
Germline		 Chr6:32039807 Pathogenic/Likely pathogenic Condition: not provided
Congenital adrenal hyperplasia
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358444 rs_1554299737

6 SubmittersRCV001269527RCV002298553RCV002250604
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) SNV
Germline		 Chr6:32039816 Conflicting classifications of pathogenicity Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA358446 rs_6476

6 SubmittersRCV001269964RCV002250603RCV002298552
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) SNV
Germline		 Chr2:47476481 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 1
Malignant tumor of breast
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Conflicting Classifications
 CA020070 rs_373226409

14 SubmittersRCV000160602RCV000491763RCV001085231RCV000761096RCV001193853RCV000410402RCV001354130RCV004813065
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) SNV
Germline		 Chr6:32040952 Conflicting classifications of pathogenicity Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Conflicting Classifications
 CA239136 rs_767333157

4 SubmittersRCV000173700RCV000987670
NM_000500.9(CYP21A2):c.293-13C>A SNV
Germline		 Chr6:32039081 Conflicting classifications of pathogenicity not specified
Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Conflicting Classifications
 CA202254 rs_6467

10 SubmittersRCV000177075RCV001657953RCV001253607
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) SNV
Germline		 Chr6:32040723 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3732662 rs_202242769

16 SubmittersRCV000490344RCV001357310RCV003155127
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) SNV
Germline		 Chr6:32038793 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363500061 rs_1554304513

1 SubmittersRCV000517012
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) SNV
Germline		 Chr6:32040584 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA363511197 rs_1554305880

2 SubmittersRCV000516282
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) SNV
Germline		 Chr6:32040685 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363511251 rs_1429901248

1 SubmittersRCV000517831
NM_000500.9(CYP21A2):c.*13G>A SNV
Germline		 Chr6:32041147 Conflicting classifications of pathogenicity Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
not specified
CYP21A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA3732748 rs_6447

8 SubmittersRCV000711367RCV000764644RCV001725196RCV004754538
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) SNV
Germline		 Chr6:32041093 Pathogenic/Likely pathogenic Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia
CYP21A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3732730 rs_776989258

9 SubmittersRCV000732097RCV000826138RCV005407926RCV003975283
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) SNV
Germline		 Chr6:32040116 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided
CYP21A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3732555 rs_770199817

7 SubmittersRCV000985129RCV001269954RCV003972997
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) SNV
Unknown		 Chr6:32039417 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363502960 rs_1582304457

1 SubmittersRCV000984599
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) SNV
Unknown		 Chr6:32039433 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363503095 rs_1582304536

1 SubmittersRCV000984600
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) SNV
Unknown		 Chr6:32039555 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363503461 rs_1582305275

1 SubmittersRCV000984603
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) SNV
Unknown		 Chr6:32040020 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA3732535 rs_182942340

1 SubmittersRCV000984610
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) SNV
Unknown		 Chr6:32040048 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363506205 rs_1582307951

1 SubmittersRCV000984612
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) SNV
Unknown		 Chr6:32040048 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363506201 rs_1582307951

1 SubmittersRCV000984611
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) SNV
Unknown		 Chr6:32040918 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363511920 rs_1367112998

1 SubmittersRCV000984579
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) SNV
Unknown		 Chr6:32040937 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363511998 rs_1582312633

1 SubmittersRCV000984580
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) SNV
Germline		 Chr6:32039593 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3732447 rs_143240527

3 SubmittersRCV000987668RCV000991864
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) SNV
Germline		 Chr6:32040063 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3732543 rs_144029176

3 SubmittersRCV000987669RCV003155333RCV004997549
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) SNV
Germline		 Chr6:32040919 Pathogenic/Likely pathogenic Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3732715 rs_72552758

6 SubmittersRCV000991861RCV002249597
NM_000500.9(CYP21A2):c.-113G>A SNV
Germline		 Chr6:32038310 Pathogenic/Likely pathogenic Congenital adrenal hyperplasia
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA449727835 rs_1246774295

4 SubmittersRCV001269258RCV001293784RCV004998784
NM_000500.9(CYP21A2):c.169G>A (p.Gly57Arg) SNV
Germline		 Chr6:32038591 Likely pathogenic Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA363499372 rs_1413433421

2 SubmittersRCV001269767RCV004796403
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) SNV
Germline		 Chr6:32040418 Conflicting classifications of pathogenicity Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Conflicting Classifications
 CA449818729 rs_1776217797

2 SubmittersRCV001269517RCV004820871
NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=) SNV
Germline		 Chr6:32040532 Pathogenic/Likely pathogenic Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA449818813 rs_1776234662

2 SubmittersRCV001269538RCV004800950
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) SNV
Germline		 Chr6:32040536 Conflicting classifications of pathogenicity Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Conflicting Classifications
 CA363511105 rs_574370139

2 SubmittersRCV001269879RCV002069396
NM_000500.9(CYP21A2):c.1118+2T>C SNV
Germline		 Chr6:32040586 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363511203 rs_1776240589

2 SubmittersRCV001293364
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter) SNV
Germline		 Chr6:32039610 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363504011 rs_1776123817

1 SubmittersRCV002283864
NM_000500.9(CYP21A2):c.651+2T>G SNV
Unknown		 Chr6:32039649 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency No Assertion Criteria Provided
 CA363504379 rs_2151873259

1 SubmittersRCV001449916
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val) SNV
Germline		 Chr6:32040920 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363511936 rs_2151876633

1 SubmittersRCV001667853
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) SNV
Germline		 Chr6:32041097 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3732734 rs_200005406

7 SubmittersRCV001667859RCV003238376
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) SNV
Germline		 Chr6:32038565 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3732283 rs_566306310

4 SubmittersRCV001667860RCV003482370
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr) SNV
Germline		 Chr6:32040508 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363511052 rs_2151875295

1 SubmittersRCV001667861
NM_000500.9(CYP21A2):c.652-1G>A SNV
Germline		 Chr6:32039748 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363504493 rs_1397184823

1 SubmittersRCV002034881
NM_000500.9(CYP21A2):c.1118+1G>A SNV
Germline		 Chr6:32040585 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA3732638 rs_778895502

1 SubmittersRCV002034884
NM_000500.9(CYP21A2):c.874G>C (p.Gly292Arg) SNV
Germline		 Chr6:32040140 Likely pathogenic Condition: not provided
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Single Submitter
 CA3732560 rs_201552310

2 SubmittersRCV001999400RCV004699630
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) SNV
Germline		 Chr6:32040529 Likely pathogenic CYP21A2-related disorder
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		 Criteria Provided
Single Submitter
 CA3732624 rs_772900496

2 SubmittersRCV003403724RCV002211042
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln) SNV
Germline		 Chr6:32040536 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3732627 rs_574370139

2 SubmittersRCV002211044RCV003089112
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) SNV
Germline		 Chr6:32040185 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3732571 rs_746303150

3 SubmittersRCV002211047RCV002473356RCV005239321
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) SNV
Germline		 Chr6:32040565 Conflicting classifications of pathogenicity Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3732631 rs_758658540

3 SubmittersRCV002211049RCV002222762RCV004999673
NM_000500.9(CYP21A2):c.292+1G>A SNV
Germline		 Chr6:32038812 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA3732308 rs_779144910

2 SubmittersRCV002250831
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe) SNV
Germline		 Chr6:32039142 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA363501022 rs_1296268275

2 SubmittersRCV002283764RCV003482406
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser) SNV
Germline		 Chr6:32038513 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363498898 rs_1312672769

1 SubmittersRCV003315170
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys) SNV
Germline		 Chr6:32039405 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363502885 rs_1313066818

1 SubmittersRCV003315171
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_000500.9(CYP21A2):c.68G>A (p.Trp23Ter) SNV
Germline		 Chr6:32038490 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 CA363498789 rs_1775988406

1 SubmittersRCV003988664
NM_000500.9(CYP21A2):c.59G>A (p.Trp20Ter) SNV
Germline		 Chr6:32038481 Pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter
 rs_72552743

1 SubmittersRCV004594931
NM_000500.9(CYP21A2):c.1294G>A (p.Glu432Lys) SNV
Germline		 Chr6:32040940 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004797098
NM_000500.9(CYP21A2):c.-126C>T SNV
Germline		 Chr6:32038297 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004796450
NM_000500.9(CYP21A2):c.-110T>C SNV
Germline		 Chr6:32038313 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004796451
NM_000500.9(CYP21A2):c.1131C>G (p.Tyr377Ter) SNV
Germline		 Chr6:32040680 Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004801479