| - GRCh37:
- Chr7:75614984
- GRCh38:
- Chr7:75985666
| POR | W496R, W443R, W493R, W511R | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:75614972
- GRCh38:
- Chr7:75985654
| POR | V439M, V489M, V507M | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75611540
- GRCh38:
- Chr7:75982222
| POR | | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614953-75614954
- GRCh38:
- Chr7:75985635-75985636
| POR | G433S, G483S, G501S | Antley-Bixler syndrome without genital anomalies or 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 | Uncertain significance
(Dec 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615084
- GRCh38:
- Chr7:75985766
| POR | T476M, T526M, T544M | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not specified | Uncertain significance
(Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615486
- GRCh38:
- Chr7:75986168
| POR | Q556*, Q606*, Q624* | not provided, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
| Pathogenic/Likely pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614863
- GRCh38:
- Chr7:75985545
| POR | | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, not provided | Benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614864
- GRCh38:
- Chr7:75985546
| POR | | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, not provided | Benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615481
- GRCh38:
- Chr7:75986163
| POR | Y554C, Y604C, Y622C | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia, not provided | Likely pathogenic
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614245
- GRCh38:
- Chr7:75984927
| POR | R403H, R421H | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615286
- GRCh38:
- Chr7:75985968
| POR | S519L, S569L, S587L | not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75608851
- GRCh38:
- Chr7:75979533
| POR | R104H, R122H | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614941
- GRCh38:
- Chr7:75985623
| POR | Y428*, Y478*, Y496* | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Sep 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75601756
- GRCh38:
- Chr7:75972438
| POR | F69L, F87L | Antley-Bixler syndrome without genital anomalies or 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 | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615944-75615946
- GRCh38:
- Chr7:75986626-75986628
| POR | | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75611641-75611642
- GRCh38:
- Chr7:75982323-75982324
| POR | | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance
(Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75610352-75610353
- GRCh38:
- Chr7:75981034-75981035
| POR | | not specified, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615552
- GRCh38:
- Chr7:75986234
| POR | V578I, V628I, V646I | not provided, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75609677
- GRCh38:
- Chr7:75980359
| POR | | not specified, not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614288
- GRCh38:
- Chr7:75984970
| POR | | not specified, not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614953
- GRCh38:
- Chr7:75985635
| POR | | not specified, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614082
- GRCh38:
- Chr7:75984764
| POR | | not specified, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615113
- GRCh38:
- Chr7:75985795
| POR | G486R, G536R, G554R | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Pathogenic
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75610416-75610417
- GRCh38:
- Chr7:75981098-75981099
| POR | R191fs, R209fs | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(May 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr7:75583325
- GRCh38:
- Chr7:75954007
| POR | | not provided, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75615496-75615519
- GRCh38:
- Chr7:75986178-75986201
| POR | | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Jan 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr7:75615304
- GRCh38:
- Chr7:75985986
| POR | Y525C, Y575C, Y593C | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Jan 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr7:75614450-75614451
- GRCh38:
- Chr7:75985132-75985133
| POR | I441fs, I459fs | 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,
not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614497
- GRCh38:
- Chr7:75985179
| POR | R454H, R472H | 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 | Pathogenic/Likely pathogenic
(May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75610925
- GRCh38:
- Chr7:75981607
| POR | | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Mar 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr7:75612866
- GRCh38:
- Chr7:75983548
| POR | A302P | not provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,
POR-related disorder | Pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75614973
- GRCh38:
- Chr7:75985655
| POR | V439E, V489E, V507E | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Pathogenic
(Mar 1, 2004) | no assertion criteria provided |