| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CTTN, LOC126861253 (Q216K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CTTN, LOC126861253 (K193R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CTTN, LOC126861253 (G197S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CTTN, LOC126861253 (E254D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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