| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SNHG22, LOC126862745
+1 more (E1414K) | Single nucleotide variant (non-coding transcript variant +1 more) | Cholestasis, progressive familial intrahepatic, 10 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 10 | |
| | | Deletion (frameshift variant) | Congenital microvillous atrophy | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital microvillous atrophy +1 more | GConflicting classifications of pathogenicity |
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