| | | Copy number loss | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Deletion (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | LOC122756382, LPIN1 (D505G +6 more) | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | LOC126806147, LPIN1 (L280V +6 more) | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126806147, LPIN1 (T255K +6 more) | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126806147, LPIN1 (P314fs +6 more) | Deletion (frameshift variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Duplication (frameshift variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | LOC122756382, LPIN1 (P426fs +6 more) | Deletion (frameshift variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | |