Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr9:27055616
- GRCh38:
- Chr9:27055618
| IFT74 | R448H | not provided, Joubert syndrome 40, Spermatogenic failure 58,
Bardet-Biedl syndrome 22, IFT74-related condition | Uncertain significance
(Jun 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:27017017
- GRCh38:
- Chr9:27017019
| IFT74 | P301L | Joubert syndrome 40, Spermatogenic failure 58, Inborn genetic diseases,
IFT74-related condition, not provided | Uncertain significance
(Jun 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:26978261
- GRCh38:
- Chr9:26978263
| IFT74 | G86S | Spermatogenic failure 58 | Pathogenic
(Apr 20, 2022) | criteria provided, single submitter |