| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GANC, LOC130056919
+1 more (T33A) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | TMEM87A, VPS39-DT (E461G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GANC, LOC130056919
+1 more (P21L) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | GANC, LOC130056919
+1 more (P23S) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | GANC, LOC130056919
+1 more (H20Y) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | TMEM87A, VPS39-DT (I546F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM87A, VPS39-DT (N505S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM87A, VPS39-DT (R385H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM87A, VPS39-DT (E429A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GANC, LOC130056919
+1 more (V34A) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | TMEM87A, VPS39-DT (M554I +1 more) | Single nucleotide variant (missense variant) | not specified | |
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