| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Psychomotor retardation, epilepsy, and craniofacial dysmorphism +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126805704, SNIP1 (R288C) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC126805704, SNIP1 (S225N) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126805704, SNIP1 (S202F) | Single nucleotide variant (missense variant) | not specified | |
| | SNIP1, LOC126805704 (V195G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126805704, SNIP1 (V195I) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126805704, SNIP1 (R144W) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC126805704, SNIP1 (S138G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC129930156, SNIP1 (R62H) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC129930156, SNIP1 (S52R) | Single nucleotide variant (missense variant) | not specified | |
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