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Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBEA
(S1632N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(S206G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K5R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(S1164N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(R696*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(Q690H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K2037fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(R2845* +3 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(E13A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(Q2544R +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(S1569* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(E860*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K611R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K2037E +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(Y1018D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K975R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(L886*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(A2053T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(A2511V +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N1141D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NBEA
(K955R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(D1304fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(W2753* +3 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(R1001*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(G583S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely benign
NBEA
(R284C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
Deletion
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(P2650S +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(R2866Q +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(T1016N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K1157E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(T1080S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N194D +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N2883S +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(I1003T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+1 more
GConflicting classifications of pathogenicity
NBEA
(R1342W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(I1203V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+1 more
GUncertain significance
NBEA
(R2080H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+2 more
GConflicting classifications of pathogenicity
NBEA
(R1598K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K2278E +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N1541S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+1 more
GConflicting classifications of pathogenicity
NBEA
(S1114T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(A211T +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(D2768N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NBEA
(I873T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(S32N)
Indel
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(D701E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(H202D +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(P6S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(R323H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(K1206E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(R2827C +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(R2504* +2 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(E1245*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(W137*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(D2182G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(A1257V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NBEA
(I1670V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NBEA
(D1269fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(T2865I +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(C120S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(Y2520F +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(I1453T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(D364E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(A603V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+1 more
GUncertain significance
NBEA
(V916F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(G2802S +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N1121fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(I2498T +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(I2495M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NBEA
(V539L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N2765K +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(A1750T +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(P664T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(M915L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N1121fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GLikely pathogenic
NBEA
(V2784F +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NBEA
(P1759L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GUncertain significance
NBEA
(N1596S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+1 more
GUncertain significance
NBEA
(E2801K +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(E2105* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(P1332S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(R2277* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NBEA
(R336*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
GPathogenic
NBEA
(S1694N +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without early-onset generalized epilepsy
+1 more
GBenign/Likely benign
NBEA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
NBEA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
NBEA
(G1967R +1 more)
Single nucleotide variant
(missense variant)
NBEA-related developmental delay and generalized epilepsy
GLikely pathogenic
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