NM_001385012.1(NBEA):c.3362dup (p.Asn1121fs)Likely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
β
ββ2024β Residue 1121
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter)Pathogenic
not specified|not provided
β
β
ββ2023β Residue 2213
NM_001385012.1(NBEA):c.4477_4478del (p.Arg1493fs)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
β
ββ2023β Residue 1493
NM_001385012.1(NBEA):c.955G>T (p.Asp319Tyr)Likely pathogenic
NBEA-related complex neurodevelopmental disorder|not specified
β
β
ββ2022β Residue 319
NM_001385012.1(NBEA):c.7765del (p.His2589fs)Pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2026β Residue 2589
NM_001385012.1(NBEA):c.5854A>G (p.Ile1952Val)Likely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025β Residue 1952
NM_001385012.1(NBEA):c.8596C>T (p.Arg2866Ter)Pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025β Residue 2866
NM_001385012.1(NBEA):c.972+1G>TPathogenic
not provided
β
βββ2025
NM_001385012.1(NBEA):c.6756_6757del (p.Tyr2252_Ser2253delinsTer)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 2252
NM_001385012.1(NBEA):c.6091C>T (p.Arg2031Ter)Likely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025β Residue 2031
NM_001385012.1(NBEA):c.6012+2T>CLikely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025
NM_001385012.1(NBEA):c.1624C>T (p.Gln542Ter)Likely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025β Residue 542
NM_001385012.1(NBEA):c.4662+2dupLikely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025
NM_001385012.1(NBEA):c.7616_7617+1delLikely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2025
NM_001385012.1(NBEA):c.7491G>A (p.Trp2497Ter)Pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2024β Residue 2497
NM_001385012.1(NBEA):c.6564dup (p.Phe2189fs)Pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2024β Residue 2189
NM_001385012.1(NBEA):c.1102_1111dup (p.Leu371fs)Pathogenic
not provided
β
βββ2024β Residue 371
NM_001385012.1(NBEA):c.8661+1G>APathogenic
not provided
β
βββ2024
NM_001385012.1(NBEA):c.7928G>A (p.Arg2643Gln)Likely pathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy
β
βββ2024β Residue 2643
NM_001385012.1(NBEA):c.5904-2A>GPathogenic
Neurodevelopmental disorder with or without early-onset generalized epilepsy|Glioma susceptibility 1
β
βββ2024