| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AP4S1, LOC130055445 +1 more (R78L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (P60R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (P44S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COCH, STRN3 (I700V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4S1, LOC130055445 +1 more (G36R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (G29S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (G33E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COCH, STRN3 (V713I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4S1, LOC130055445 +1 more (L69V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4S1, LOC130055445 +1 more (Q61R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
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