| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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 (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | NR1D1, THRA (P397L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
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