NM_003560.4(PLA2G6):c.1186+1G>TPathogenic
not provided|Infantile neuroaxonal dystrophy|Autosomal recessive Parkinson disease 14;Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B
β
β
ββ2026
NM_003560.4(PLA2G6):c.2035-926G>ALikely pathogenic
not provided|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy
β
β
ββ2026
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)Pathogenic
Iron accumulation in brain|not provided|Neurodegeneration with brain iron accumulation 2B|Inborn genetic diseases|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14|Neurodegeneration with brain iron accumulation|Infantile osteopetrosis with neuroaxonal dysplasia|PLA2G6-related disorder
β
β
ββ2026β Residue 600
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter)Pathogenic
not provided|Infantile neuroaxonal dystrophy
β
β
ββ2026β Residue 73
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)Pathogenic
Infantile neuroaxonal dystrophy|not provided|Neurodegeneration with brain iron accumulation
β
β
ββ2026β Residue 517
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)Pathogenic
Iron accumulation in brain|not provided|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy|Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14|Neurodegeneration with brain iron accumulation
β
β
ββ2026β Residue 635
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)Pathogenic
Iron accumulation in brain|not provided|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14
β
β
ββ2026β Residue 252
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)Pathogenic
Karak syndrome|not provided|Neurodegeneration with brain iron accumulation|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy|Infantile neuroaxonal dystrophy;Autosomal recessive Parkinson disease 14;Neurodegeneration with brain iron accumulation 2B
β
β
ββ2026β Residue 632
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)Pathogenic
Autosomal recessive Parkinson disease 14|not provided|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration|Autosomal recessive Parkinson disease 14;Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B
β
β
ββ2025β Residue 331
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)Pathogenic
Autosomal recessive Parkinson disease 14|PLA2G6-associated neurodegeneration|not provided|Autosomal recessive Parkinson disease 14;Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B|Infantile neuroaxonal dystrophy
β
β
ββ2025β Residue 635
NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg)Pathogenic
Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation
β
β
ββ2025β Residue 373
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)Pathogenic
Infantile neuroaxonal dystrophy|Iron accumulation in brain|not provided|Neurodegeneration with brain iron accumulation 2B|PLA2G6-associated neurodegeneration|Autosomal recessive Parkinson disease 14;Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B
β
β
ββ2025β Residue 37
NM_003560.4(PLA2G6):c.319del (p.Leu107fs)Pathogenic
Neurodegeneration with brain iron accumulation 2B|not provided|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy
β
β
ββ2025β Residue 107
NM_003560.4(PLA2G6):c.1427+1G>APathogenic
Infantile neuroaxonal dystrophy|Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14|not provided|PLA2G6-associated neurodegeneration|Familial prostate cancer
β
β
ββ2025
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)Pathogenic
Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B|not provided|Iron accumulation in brain|Inborn genetic diseases|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy;Autosomal recessive Parkinson disease 14;Neurodegeneration with brain iron accumulation 2B
β
β
ββ2025β Residue 790
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)Pathogenic
Neurodegeneration with brain iron accumulation 2B|Infantile neuroaxonal dystrophy|Infantile neuroaxonal dystrophy;Autosomal recessive Parkinson disease 14;Neurodegeneration with brain iron accumulation 2B|not provided|PLA2G6-associated neurodegeneration
β
β
ββ2025β Residue 80
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)Pathogenic
Infantile neuroaxonal dystrophy|Autosomal recessive Parkinson disease 14|Neurodegeneration with brain iron accumulation 2B|Neurodegeneration with brain iron accumulation
β
β
ββ2025β Residue 354
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)Pathogenic
Infantile neuroaxonal dystrophy|not provided|Neurodegeneration with brain iron accumulation
β
β
ββ2025β Residue 479
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)Pathogenic
Autosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy;Autosomal recessive Parkinson disease 14;Neurodegeneration with brain iron accumulation 2B|not provided|PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy
β
β
ββ2025β Residue 747
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)Pathogenic
Iron accumulation in brain|not provided|Infantile neuroaxonal dystrophy
β
β
ββ2025β Residue 225