NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)Pathogenic
Seizures, benign familial neonatal, 2|Benign neonatal seizures|not provided
β
β
ββ2025β Residue 330
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)Pathogenic
not provided|Inborn genetic diseases|Seizures, benign familial neonatal, 2|Benign neonatal seizures|See cases|Seizure
β
β
ββ2025β Residue 230
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2|not provided|KCNQ3-related disorder
β
β
ββ2025β Residue 330
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2|not provided
β
β
ββ2025β Residue 364
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)Pathogenic
not provided|Seizures, benign familial neonatal, 2|Severe neurodevelopmental delay|Seizures, benign familial infantile, 5|Benign neonatal seizures|Intellectual disability|Benign neonatal seizures;Lennox-Gastaut syndrome;Intellectual disability|KCNQ3-related developmental disability|Severe intellectual disability|Neurodevelopmental disorder|KCNQ3-related Autism and developmental disability|Inborn genetic diseases
β
β
ββ2025β Residue 230
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2|KCNQ3-related disorder|not provided
β
β
ββ2024β Residue 317
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val)Pathogenic
not provided|Benign neonatal seizures
β
β
ββ2022β Residue 306
NM_004519.4(KCNQ3):c.115G>T (p.Glu39Ter)Pathogenic
Benign neonatal seizures
β
βββ2025β Residue 39
NM_004519.4(KCNQ3):c.1576C>T (p.Gln526Ter)Pathogenic
Benign neonatal seizures
β
βββ2025β Residue 526
NM_004519.4(KCNQ3):c.958G>A (p.Gly320Arg)Pathogenic
Benign neonatal seizures
β
βββ2025β Residue 320
NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer)Pathogenic
Benign neonatal seizures
β
βββ2025β Residue 20
NM_004519.4(KCNQ3):c.1799+1G>CLikely pathogenic
Benign neonatal seizures
β
βββ2025
NM_004519.4(KCNQ3):c.1264C>T (p.Gln422Ter)Pathogenic
Benign neonatal seizures
β
βββ2025β Residue 422
NM_004519.4(KCNQ3):c.61_77dup (p.Asn27fs)Pathogenic
Benign neonatal seizures
β
βββ2025β Residue 27
NM_004519.4(KCNQ3):c.1066G>T (p.Ala356Ser)Likely pathogenic
not provided
β
βββ2025β Residue 356
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys)Pathogenic
Benign neonatal seizures|Seizures, benign familial neonatal, 2
β
βββ2025β Residue 364
NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe)Likely pathogenic
Seizures, benign familial neonatal, 2|not provided
β
βββ2025β Residue 279
NM_004519.4(KCNQ3):c.928G>T (p.Gly310Cys)Likely pathogenic
Seizures, benign familial neonatal, 2
β
βββ2025β Residue 310
NM_004519.4(KCNQ3):c.778-2A>GLikely pathogenic
Seizures, benign familial neonatal, 2
β
βββ2025
NM_004519.4(KCNQ3):c.1060G>A (p.Gly354Arg)Pathogenic
not provided
β
βββ2024β Residue 354