| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PKD1L1, PKD1L1-AS1 (P2687S) | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 8, autosomal | |
| | PKD1L1, PKD1L1-AS1 (Y2573C) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Heterotaxy, visceral, 8, autosomal | |
| | | Deletion (frameshift variant) | Heterotaxy, visceral, 8, autosomal | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Heterotaxy, visceral, 8, autosomal | |
| | | Indel (missense variant) | Heterotaxy, visceral, 8, autosomal | |
| | | Single nucleotide variant (synonymous variant) | Heterotaxy, visceral, 8, autosomal | |
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