NM_025233.7(COASY):c.1388-2A>GLikely pathogenic
Neurodegeneration with brain iron accumulation 6|COASY-related disorder|not provided|Familial cancer of breast|Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12
β
β
ββ2025
NM_025233.7(COASY):c.641C>T (p.Ala214Val)Likely pathogenic
Neurodegeneration with brain iron accumulation 6|COASY-Related Disorders
β
β
ββ2025β Residue 214
NM_025233.7(COASY):c.1486-3C>GPathogenic
Pontocerebellar hypoplasia, type 12|not provided|Neurodegeneration with brain iron accumulation 2B|Neurodegeneration with brain iron accumulation 6
β
β
ββ2025
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs)Pathogenic
Pontocerebellar hypoplasia, type 12|not provided|Neurodegeneration with brain iron accumulation
β
β
ββ2025β Residue 517
NM_025233.7(COASY):c.1567C>T (p.Gln523Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6|COASY-Related Disorders
β
β
ββ2025β Residue 523
NM_025233.7(COASY):c.1129C>T (p.Arg377Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6|Pontocerebellar hypoplasia, type 12;Neurodegeneration with brain iron accumulation 6|not provided
β
β
ββ2024β Residue 377
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)Pathogenic
Neurodegeneration with brain iron accumulation 6|not provided|Neurodegeneration with brain iron accumulation
β
β
ββ2024β Residue 499
NM_025233.7(COASY):c.1579C>T (p.Gln527Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2026β Residue 527
NM_025233.7(COASY):c.600dup (p.Asp201Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2025β Residue 201
NM_025233.7(COASY):c.183del (p.Phe62fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2024β Residue 62
NM_025233.7(COASY):c.732_733del (p.Thr245fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2024β Residue 245
NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)Pathogenic
Neurodegeneration with brain iron accumulation
β
βββ2024β Residue 357
NM_025233.7(COASY):c.1387+1G>ALikely pathogenic
Pontocerebellar hypoplasia, type 12;Neurodegeneration with brain iron accumulation 6
β
βββ2024
NM_025233.7(COASY):c.1401_1404dup (p.Ile469fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2024β Residue 469
NM_025233.7(COASY):c.586_587del (p.Val196fs)Likely pathogenic
Pontocerebellar hypoplasia, type 12
β
βββ2023β Residue 196
NM_025233.7(COASY):c.423C>A (p.Tyr141Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2023β Residue 141
NM_025233.7(COASY):c.1303-2A>GLikely pathogenic
not provided
β
βββ2023
NM_025233.7(COASY):c.545_546del (p.Gly182fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2023β Residue 182
NM_025233.7(COASY):c.90_96del (p.Ala30_Arg31insTer)Likely pathogenic
Neurodegeneration with brain iron accumulation 6
β
βββ2022β Residue 30
NM_025233.7(COASY):c.492del (p.Glu164fs)Likely pathogenic
Neurodegeneration with brain iron accumulation
β
βββ2022β Residue 164