NM_001349206.2(LPIN1):c.1887-1G>CLikely pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β
β
ββ2026
NM_001349206.2(LPIN1):c.2621+1G>APathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β
β
ββ2026
NM_001349206.2(LPIN1):c.1807-1G>APathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β
β
ββ2025
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β
β
ββ2025β Residue 424
NM_001349206.2(LPIN1):c.1029del (p.Gln344fs)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β
β
ββ2025β Residue 344
NM_001349206.2(LPIN1):c.181C>T (p.Arg61Ter)Pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive|Acute rhabdomyolysis
β
β
ββ2025β Residue 61
NM_001349206.2(LPIN1):c.1807-2A>GPathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β
β
ββ2025
NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β
β
ββ2025β Residue 693
NM_001349206.2(LPIN1):c.835del (p.Ser279fs)Pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β
β
ββ2024β Residue 279
NM_001349206.2(LPIN1):c.1363_1364dup (p.Asp455fs)Pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β
β
ββ2024β Residue 455
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|See cases|LPIN1-related disorder
β
β
ββ2022β Residue 426
NM_001349206.2(LPIN1):c.942del (p.Pro315fs)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive
β
β
ββ2021β Residue 315
NM_001349206.2(LPIN1):c.283_284insCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCNNNNNNNNNNAAAAAAAAAAAAAAAGAAACAGATAATG (p.Asn94_Asp95insAlaProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProXaaXaaXaaLysLysLysLysLysGluThrAspAsn)Pathogenic
not provided
β
βββ2026β Residue 94
NM_001349206.2(LPIN1):c.933G>A (p.Trp311Ter)Pathogenic
not provided
β
βββ2026β Residue 311
NM_001349206.2(LPIN1):c.1735del (p.Arg579fs)Pathogenic
not provided
β
βββ2026β Residue 579
NM_001349206.2(LPIN1):c.1237_1238del (p.Lys413fs)Pathogenic
not provided
β
βββ2025β Residue 413
NM_001349206.2(LPIN1):c.1520dup (p.Leu508fs)Pathogenic
Acute rhabdomyolysis
β
βββ2025β Residue 508
NM_001349206.2(LPIN1):c.227del (p.Leu76fs)Pathogenic
not provided
β
βββ2025β Residue 76
NM_001349206.2(LPIN1):c.2401_2402+22delLikely pathogenic
not provided
β
βββ2025
NM_001349206.2(LPIN1):c.193-2A>GLikely pathogenic
not provided
β
βββ2025