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Links from Gene

Items: 1 to 100 of 1285

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1
(S725fs)
Deletion
(frameshift variant +1 more)
Cerebellar atrophy, developmental delay, and seizures
GLikely pathogenic
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KCNMA1, KCNMA1-AS1
(R562W +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNMA1
Copy number gain
not specified
GUncertain significance
KCNMA1
Copy number gain
not specified
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant +1 more)
KCNMA1-related condition
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +2 more)
KCNMA1-related condition
GBenign
KCNMA1
(R708Q)
Single nucleotide variant
(missense variant +1 more)
KCNMA1-related condition
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
KCNMA1-related condition
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant +1 more)
KCNMA1-related condition
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
KCNMA1-related condition
GLikely benign
KCNMA1
(W129*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GLikely benign
KCNMA1
(P146L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
KCNMA1-related condition
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(I71V)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(Y581C +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
(K559E +6 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Microsatellite
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(K130R)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Duplication
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(L23H)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(S54F)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(G140S)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1-AS1, KCNMA1
(D794N +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
(D1038N +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1-AS1, KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Duplication
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Duplication
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(N110H +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(I663M +3 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Insertion
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(I29F)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(A153V)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Duplication
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Duplication
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(S59F)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(A403V +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Duplication
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(splice donor variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely pathogenic
KCNMA1, KCNMA1-AS1
(T1001M +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(N1073D +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(N325K +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
(L785V +6 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
(N915S +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(I483L +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(I402V +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
(R918G +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(V156L)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(M391I +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(D146N)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(W158C)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
(N821S +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1-AS1, KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1, KCNMA1-AS1
(K771N +6 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
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