| | | Single nucleotide variant (5 prime UTR variant +1 more) | Lipase deficiency, combined | |
| | | Single nucleotide variant (missense variant +1 more) | Lipase deficiency, combined +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lipase deficiency, combined | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Lipase deficiency, combined +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Lipase deficiency, combined | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Lipase deficiency, combined | |
| | | Single nucleotide variant (missense variant +2 more) | Lipase deficiency, combined | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lipase deficiency, combined +1 more | GConflicting classifications of pathogenicity |
| | LMF1, LMF1-AS1 (F171S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Lipase deficiency, combined +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lipase deficiency, combined +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Lipase deficiency, combined +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Lipase deficiency, combined +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Lipase deficiency, combined +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Lipase deficiency, combined | |
| | | Single nucleotide variant (missense variant +1 more) | LMF1-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Lipase deficiency, combined +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Lipase deficiency, combined +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lipase deficiency, combined | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | LMF1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Lipase deficiency, combined +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lipase deficiency, combined +3 more | |
| | | Single nucleotide variant (nonsense +2 more) | Lipase deficiency, combined | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |