NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2025β Residue 782
NM_005559.4(LAMA1):c.8556+1G>APathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided|Lung cancer
β
β
ββ2025
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2025β Residue 2921
NM_005559.4(LAMA1):c.1243del (p.His415fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2025β Residue 415
NM_005559.4(LAMA1):c.2935del (p.Arg979fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2025β Residue 979
NM_005559.4(LAMA1):c.7180C>T (p.Arg2394Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2025β Residue 2394
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2025β Residue 62
NM_005559.4(LAMA1):c.4676_4679del (p.Glu1559fs)Pathogenic
not provided
β
β
ββ2024β Residue 1559
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2024β Residue 2337
NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2023β Residue 1838
NM_005559.4(LAMA1):c.8737del (p.Asp2913fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2023β Residue 2913
NM_005559.4(LAMA1):c.7195+2T>ALikely pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2023
NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided
β
β
ββ2023β Residue 1307
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2023β Residue 1359
NM_005559.4(LAMA1):c.1034del (p.Gln345fs)Pathogenic
not provided
β
β
ββ2022β Residue 345
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided
β
β
ββ2022β Residue 1803
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
β
ββ2022β Residue 1559
NM_005559.4(LAMA1):c.1942_1948del (p.Phe648fs)Pathogenic
not provided
β
β
ββ2022β Residue 648
NM_005559.4(LAMA1):c.6299del (p.Leu2099_Ser2100insTer)Pathogenic
not provided
β
β
ββ2017β Residue 2099
NM_005559.4(LAMA1):c.2823del (p.Leu942fs)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β
βββ2026β Residue 942