Total 40 pathogenic variants reported for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001395413.1(POR):c.1466T>A (p.Val489Glu) SNV
Germline		 Chr7:75985655 Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis No Assertion Criteria Provided
 CA257651 rs_28931606

1 SubmittersRCV000018400
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) SNV
Germline		 Chr7:75983548 Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Condition: not provided
POR-related disorder
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Inborn genetic diseases
Sarcoma
Cervical cancer
Differences in sex development		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257653 rs_121912974

14 SubmittersRCV000018401RCV000170457RCV000519572RCV002243651RCV005042061RCV005462889RCV005887546RCV005887545RCV005865186
NM_001395413.1(POR):c.722+1G>A SNV
Germline		 Chr7:75981607 Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis No Assertion Criteria Provided
 CA257659 rs_786205099

1 SubmittersRCV000018404
NM_001395413.1(POR):c.1361G>A (p.Arg454His) SNV
Germline		 Chr7:75985179 Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Condition: not provided
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257662 rs_28931608

9 SubmittersRCV000018407RCV000018406RCV003150931RCV005003378
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys) SNV
Germline		 Chr7:75985986 Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis No Assertion Criteria Provided
 CA257665 rs_121912975

1 SubmittersRCV000018411
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) SNV
Germline		 Chr7:75985795 Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia
POR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257672 rs_121912976

5 SubmittersRCV000018416RCV000018415RCV003234913RCV004737158
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) SNV
Germline		 Chr7:75986234 Conflicting classifications of pathogenicity Condition: not provided
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
POR-related disorder		 Criteria Provided
Conflicting Classifications
 CA4304330 rs_145782750

10 SubmittersRCV000353254RCV001088190RCV001786353RCV004737412
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) SNV
Germline		 Chr7:75981558 Conflicting classifications of pathogenicity not specified
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Condition: not provided
POR-related disorder
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		 Criteria Provided
Conflicting Classifications
 CA4303777 rs_17853284

10 SubmittersRCV000501875RCV000755371RCV001584216RCV004535610RCV005356022
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) SNV
Germline		 Chr7:75985840 Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4304215 rs_782336856

4 SubmittersRCV000779538RCV005047036RCV006269002RCV005250110
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) SNV
Germline		 Chr7:75985623 Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367749974 rs_373613946

2 SubmittersRCV000985273RCV003768629
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys) SNV
Germline		 Chr7:75981100 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
not specified		 Criteria Provided
Conflicting Classifications
 CA4303725 rs_782681272

4 SubmittersRCV001164101RCV004726909RCV004690000
NM_001395413.1(POR):c.889G>A (p.Glu297Lys) SNV
Germline		 Chr7:75983587 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
not specified
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		 Criteria Provided
Conflicting Classifications
 CA4303886 rs_11540674

4 SubmittersRCV001160551RCV002222671RCV005359886
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) SNV
Germline		 Chr7:75985968 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4304260 rs_370645073

5 SubmittersRCV001162271RCV002480569RCV003132244RCV004032861
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) SNV
Germline		 Chr7:75986163 Likely pathogenic Condition: not provided
Congenital adrenal hyperplasia
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4304306 rs_72557954

5 SubmittersRCV001658880RCV002469408RCV005005267RCV003631210RCV005396965
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) SNV
Germline		 Chr7:75986168 Pathogenic/Likely pathogenic Condition: not provided
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4304310 rs_782261248

5 SubmittersRCV001782675RCV003136154RCV002541209RCV005040379
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter) SNV
Germline		 Chr7:75986189 Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4304315 rs_781946801

3 SubmittersRCV001941870RCV003120777RCV005032002
NM_001395413.1(POR):c.723-2A>T SNV
Germline		 Chr7:75982222 Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Condition: not provided
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4303818 rs_782343026

4 SubmittersRCV002503557RCV001935143RCV003151365RCV005361810
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) SNV
Germline		 Chr7:75985666 Likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis No Assertion Criteria Provided
 CA367750063 rs_2116630442

1 SubmittersRCV002227920
NM_001395413.1(POR):c.821+1G>A SNV
Germline		 Chr7:75982323 Pathogenic/Likely pathogenic Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367748644 rs_74900634

4 SubmittersRCV002308514RCV003775014RCV005032236RCV005433817
NM_001395413.1(POR):c.40G>T (p.Glu14Ter) SNV
Germline		 Chr7:75954041 Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4303437 rs_373053855

2 SubmittersRCV003518265RCV005036855
NM_001395413.1(POR):c.1240-2A>G SNV
Germline		 Chr7:75985056 Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367749553 rs_1352009961

2 SubmittersRCV003631781RCV005036928
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter) SNV
Germline		 Chr7:75982236 Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA367748454 rs_201786397

2 SubmittersRCV003632950RCV005040496
NM_001395413.1(POR):c.1361G>T (p.Arg454Leu) SNV
Germline		 Chr7:75985179 Conflicting classifications of pathogenicity not specified
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		 Criteria Provided
Conflicting Classifications
 rs_28931608

2 SubmittersRCV004587880RCV005038723
NM_001395413.1(POR):c.1685T>C (p.Leu562Pro) SNV
Germline		 Chr7:75985947 Likely pathogenic Congenital adrenal hyperplasia
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004701101RCV005038790RCV006617145
NM_001395413.1(POR):c.671G>A (p.Trp224Ter) SNV
Germline		 Chr7:75981555 Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		 Criteria Provided
Single Submitter

1 SubmittersRCV005035857
NM_001395413.1(POR):c.723-1G>T SNV
Germline		 Chr7:75982223 Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV005035858RCV005937655
NM_001395413.1(POR):c.1529C>T (p.Pro510Leu) SNV
Germline		 Chr7:75985718 Likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Criteria Provided
Single Submitter

1 SubmittersRCV006258296