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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1
(H336D +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 16
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar atrophy, developmental delay, and seizures
+3 more
GUncertain significance
KCNMA1
Deletion
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+2 more
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+2 more
GConflicting classifications of pathogenicity
KCNMA1
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 16
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
KCNMA1
(R517W +3 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, developmental delay, and seizures
+3 more
GUncertain significance
KCNMA1
(G196E +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 16
GUncertain significance
KCNMA1
Microsatellite
(inframe_insertion)
not provided
+1 more
GUncertain significance
KCNMA1, KCNMA1-AS1
(K833R +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GUncertain significance
KCNMA1
Microsatellite
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
KCNMA1
Indel
(inframe_indel)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GUncertain significance
KCNMA1
(S722L)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 16
+2 more
GUncertain significance
KCNMA1
(V61A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GBenign/Likely benign
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