| | | Single nucleotide variant (nonsense) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (nonsense) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (splice donor variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant +1 more) | Transient infantile hypertriglyceridemia and hepatosteatosis +1 more | |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Microsatellite (splice donor variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Transient infantile hypertriglyceridemia and hepatosteatosis | |