Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Autosomal dominant nonsyndromic hearing loss | |
| | | Deletion (frameshift variant +2 more) | Autosomal dominant nonsyndromic hearing loss | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal dominant nonsyndromic hearing loss +1 more | |
| | GREB1L, LOC101927521 (T116I) | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant nonsyndromic hearing loss | |
| | | Single nucleotide variant (missense variant) | Bilateral sensorineural hearing impairment +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene