| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | COL11A1, LOC126805814 (A1719E +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | COL11A1, LOC126805814 (S1601T +3 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | COL11A1, LOC126805814 (R1719W +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene