Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr9:127262598-127262599
- GRCh38:
- Chr9:124500319-124500320
| NR5A1 | P214fs | 46,XX sex reversal 4 | Pathogenic
(Nov 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:127265587
- GRCh38:
- Chr9:124503308
| NR5A1 | C30R | 46,XX sex reversal 4, 46,XY disorder of sex development, Oligosynaptic infertility
| Conflicting interpretations of pathogenicity
(Aug 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:127262965
- GRCh38:
- Chr9:124500686
| NR5A1 | R92W | Oligosynaptic infertility, 46,XY disorder of sex development, 46,XX sex reversal 4,
not provided, 46,XY sex reversal 3 | Conflicting interpretations of pathogenicity
(Sep 16, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:127262964
- GRCh38:
- Chr9:124500685
| NR5A1 | R92Q | 46,XY sex reversal 3, 46,XX sex reversal 4, ADRENAL INSUFFICIENCY, NR5A1-RELATED
| Pathogenic
(Apr 1, 2002) | no assertion criteria provided |