| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KIDINS220 (S1397C +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KIDINS220 (L1332fs +6 more) | Deletion (frameshift variant +1 more) | not provided | |
| | KIDINS220 (R1149fs +1 more) | Duplication (frameshift variant +2 more) | not provided | |
| | KIDINS220 (P1057T +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KIDINS220 (P1039L +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
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