| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105369937, MYBPC1 (R332T +6 more) | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1B | |
| | MYBPC1, LOC105369937 (S374P +6 more) | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1B | |
| | LOC105369937, MYBPC1 (R388G +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC105369937, MYBPC1 (R417K +6 more) | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 1B +1 more | |
Click to view in NCBI Gene