| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KANK1, LOC126860554 (Q1110E +6 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KANK1, LOC126860554 (E1158Q +6 more) | Single nucleotide variant (missense variant +1 more) | Cerebral palsy, spastic quadriplegic, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
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