| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (nonsense) | Hypotonia, ataxia, and delayed development syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Hypotonia, ataxia, and delayed development syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, and delayed development syndrome | |
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