Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrY:14954296
- GRCh38:
- ChrY:12842370
| USP9Y | G2115C | Spermatogenic failure, Y-linked, 2 | Uncertain significance
(Nov 2, 2023) | no assertion criteria provided |
| - GRCh37:
- ChrY:14952376
- GRCh38:
- ChrY:12840450
| USP9Y | T1975I | Spermatogenic failure, Y-linked, 2 | Uncertain significance
(Apr 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrY:14904986
- GRCh38:
- ChrY:12793053
| USP9Y | L1279V | Spermatogenic failure, Y-linked, 2 | Uncertain significance
(Jan 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117171137
- GRCh38:
- Chr7:117531083
| CFTR | R153K | Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Spermatogenic failure, Y-linked, 2
| Conflicting interpretations of pathogenicity
(Sep 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrY:14847659-14847662
- GRCh38:
- ChrY:12735725-12735728
| USP9Y | | Spermatogenic failure, Y-linked, 2 | Pathogenic
(Dec 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr7:117292931
- GRCh38:
- Chr7:117652877
| CFTR | N1303K | Cystic fibrosis | Pathogenic
(Mar 3, 2004) | practice guideline |