| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Mitochondrial trifunctional protein deficiency | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | Autoimmune lymphoproliferative syndrome type 2B | |
| | UGT1A, UGT1A1 +8 more (M403T +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of butyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126860789, UBAC1 (M136T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Adenine phosphoribosyltransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | GH-LCR, GH1 (M111T +2 more) | Single nucleotide variant (missense variant) | Autosomal dominant isolated somatotropin deficiency | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CFAP298, CFAP298-TCP10L (M136T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |