| | NT5DC4, CKAP2L (H542N +1 more) | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | NT5DC4, CKAP2L (S526L +1 more) | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | CKAP2L, NT5DC4 (R523Q +1 more) | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | CKAP2L, NT5DC4 (T520A +1 more) | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | CKAP2L, NT5DC4 (P505S +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | CKAP2L, NT5DC4 (Y659F +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | NT5DC4, CKAP2L (E625K +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | NT5DC4, CKAP2L (S622P +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CKAP2L, NT5DC4 (L449V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CKAP2L, NT5DC4 (L434F +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |