| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | UGT1A8, UGT1A9
+8 more (V225G) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome +5 more | GConflicting classifications of pathogenicity; other |
| | ATRIP, ATRIP-TREX1
+1 more (V235G +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Propionic acidemia | |
| | | Single nucleotide variant (missense variant) | Maturity onset diabetes mellitus in young | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Brown-Vialetto-van Laere syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 35 | |
| | | Single nucleotide variant (missense variant) | Wilms tumor 1 | |
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