| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (M310V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (P184S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (L455S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (A441T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (H379R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (T400A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (P397T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (R378H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (D131H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (P374L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | MTFR1, PDE7A (Y368N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (H379Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (P476L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (R378C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (S120T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (A440D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (T148I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | MTFR1, PDE7A (P423A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MTFR1, PDE7A (A331T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MTFR1, PDE7A (I175V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Polydactyly | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |