Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant) | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | |
| | | Single nucleotide variant (splice acceptor variant) | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | |
| | C12orf43, HNF1A (V596fs +2 more) | Deletion (3 prime UTR variant +1 more) | Monogenic diabetes | |
| | | Single nucleotide variant (nonsense) | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive +1 more | |
Click to view in NCBI Gene