| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HEY1, LOC130000635 (T121A +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HEY1, LOC130000635 (H191Y +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HEY1, LOC130000635 (G176R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HEY1, LOC130000635 (I145T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene