| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FAM78B, FAM78B-AS1 (R251Q) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM78B, FAM78B-AS1 (R225Q) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM78B, FAM78B-AS1 (R221Q) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM78B-AS1, FAM78B (I189V) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | FAM78B, FAM78B-AS1 (V125A) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
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