| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000405, LOC130000406 +489 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000495, LOC130000496 +150 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MTFR1, PDE7A (P476L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PDE7A, MTFR1 (A440D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MTFR1, PDE7A (T400A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTFR1, PDE7A (P397T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTFR1, PDE7A (P423A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTFR1, PDE7A (H379R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTFR1, PDE7A (H379Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MTFR1, PDE7A (R378H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTFR1, PDE7A (R378C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MTFR1, PDE7A (P374L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PDE7A, MTFR1 (Y368N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PDE7A, MTFR1 (A331T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MTFR1, PDE7A (I175V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MTFR1, PDE7A (T148I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MTFR1, PDE7A (D131H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTFR1, PDE7A (S120T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Polydactyly | |
| | | Copy number loss | not specified | |
| | | 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 | |
| | PPP1R16A, PPP1R42 +593 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |