Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance (Last reviewed) | Review status |
---|
| - GRCh37:
- Chr12:122693043
- GRCh38:
- Chr12:122208496
| DIABLO, B3GNT4 | R105Q, R129Q, R149Q, R158Q, R202Q | Autosomal dominant nonsyndromic hearing loss 64 | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:122702909
- GRCh38:
- Chr12:122218362
| DIABLO | L20F, L73F | Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss 64 | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:122709500-122709501
- GRCh38:
- Chr12:122224953-122224954
| DIABLO | | not provided, Autosomal dominant nonsyndromic hearing loss 64 | Benign (Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:122701355
- GRCh38:
- Chr12:122216808
| DIABLO | S126L, S82L, S29L, S73L, S53L | not provided | Pathogenic (Jul 13, 2020) | criteria provided, single submitter |