| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EARS2, LOC130058664 (G34R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | EARS2, LOC130058664 (L80V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EARS2, LOC130058664 (R11S) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | EARS2, LOC130058664 (Q10H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene