Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:40001707
- GRCh38:
- Chr17:41845455
| KLHL10 | K250N, K338N | Spermatogenic failure 11 | Uncertain significance
(Oct 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39998141
- GRCh38:
- Chr17:41841889
| KLHL10 | | Spermatogenic failure 11, not provided | Benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:40001616
- GRCh38:
- Chr17:41845364
| KLHL10 | I308T, I220T | Spermatogenic failure 11 | Uncertain significance
(Aug 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40001678
- GRCh38:
- Chr17:41845426
| KLHL10 | R241C, R329C | Spermatogenic failure 11 | Pathogenic
(Feb 9, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr17:40002113-40002116
- GRCh38:
- Chr17:41845861-41845864
| KLHL10 | | not provided | Likely benign
(Jul 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:40001630
- GRCh38:
- Chr17:41845378
| KLHL10 | A313T, A225T | not provided | Uncertain significance
(Nov 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39998527
- GRCh38:
- Chr17:41842275
| KLHL10 | Q216P, Q128P | not provided, Spermatogenic failure 11 | Benign/Likely benign
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |