| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | HARS2, LOC119407423 (R32L) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | HARS2, LOC119407423 (Q34K) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | HARS2, LOC119407423 (S26A) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion (inframe_indel +2 more) | not provided | |
| | HARS2, LOC119407423 (R32G) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HARS2, LOC119407423 (C24fs) | Deletion (frameshift variant +2 more) | not provided | |
| | | Indel (5 prime UTR variant) | not provided | |
| | HARS2, LOC119407423 (C24*) | Single nucleotide variant (nonsense +2 more) | Sensorineural hearing loss disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
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