Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:219900280
- GRCh38:
- Chr2:219035558
| CFAP65 | G144A, G155A, G90A | Spermatogenic failure 40 | Uncertain significance
(Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:219892641
- GRCh38:
- Chr2:219027919
| CFAP65 | P583S, P637S, P648S | Spermatogenic failure 40 | Uncertain significance
(Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:219874687
- GRCh38:
- Chr2:219009965
| CFAP65, LOC100129175 | P1477S | Spermatogenic failure 40 | Uncertain significance
(Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:219894286
- GRCh38:
- Chr2:219029564
| CFAP65 | A486T, A497T, A432T | Spermatogenic failure 40 | Uncertain significance
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219888074
- GRCh38:
- Chr2:219023352
| CFAP65 | W892* | Spermatogenic failure 40 | Pathogenic
(Nov 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:219894195
- GRCh38:
- Chr2:219029473
| CFAP65 | L462fs, L516fs, L527fs | Spermatogenic failure 40 | Pathogenic
(Nov 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:219890809
- GRCh38:
- Chr2:219026087
| CFAP65 | R762* | Spermatogenic failure 40 | Pathogenic
(Nov 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:219868888
- GRCh38:
- Chr2:219004166
| LOC100129175, CFAP65 | E1781* | Spermatogenic failure 40 | Pathogenic
(Aug 14, 2019) | criteria provided, single submitter |