| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis | |
| | | Single nucleotide variant (missense variant) | Wolcott-Rallison dysplasia | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 5A | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Achromatopsia 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive DOPA responsive dystonia +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive DOPA responsive dystonia | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (D215H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |