| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130061627, USH1G (L330fs +1 more) | Deletion (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | Usher syndrome | |
| | LOC130061627, USH1G (K335M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130061627, USH1G (K335N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130061627, USH1G (R324H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130061627, USH1G (R333G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130061627, USH1G (G331E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130061627, USH1G (R333* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Usher syndrome type 1G | |
| | LOC130061627, USH1G (L330M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130061627, USH1G (L321V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130061627, USH1G (K438I +1 more) | Indel (missense variant) | not provided | |
| | LOC130061627, USH1G (K335fs +1 more) | Deletion (frameshift variant) | not provided | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene