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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1
(V173I +2 more)
Single nucleotide variant
(missense variant)
Liang-Wang syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar atrophy, developmental delay, and seizures
+3 more
GUncertain significance
KCNMA1, KCNMA1-AS1
(P1040R +9 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
KCNMA1
Duplication
(inframe_insertion +1 more)
Liang-Wang syndrome
+1 more
GUncertain significance
KCNMA1
Deletion
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GUncertain significance
KCNMA1, KCNMA1-AS1
(D640E +7 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy, developmental delay, and seizures
+2 more
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+2 more
GUncertain significance
KCNMA1, KCNMA1-AS1
(R656H +7 more)
Single nucleotide variant
(missense variant)
Liang-Wang syndrome
GUncertain significance
KCNMA1, KCNMA1-AS1
(R562Q +6 more)
Single nucleotide variant
(missense variant)
Liang-Wang syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+2 more
GUncertain significance
KCNMA1
Single nucleotide variant
(splice donor variant)
Liang-Wang syndrome
GLikely pathogenic
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GLikely benign
KCNMA1, KCNMA1-AS1
(P552L +6 more)
Single nucleotide variant
(missense variant)
Liang-Wang syndrome
+2 more
GUncertain significance
KCNMA1
(R517W +3 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GUncertain significance
KCNMA1, KCNMA1-AS1
(D1008N +9 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
KCNMA1, KCNMA1-AS1
(P654L +7 more)
Single nucleotide variant
(missense variant)
KCNMA1-related disorder
+2 more
GPathogenic/Likely pathogenic
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GConflicting classifications of pathogenicity
KCNMA1
(I483V +3 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
KCNMA1
(S171Y +1 more)
Single nucleotide variant
(missense variant)
Liang-Wang syndrome
GPathogenic
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
(K627R +2 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+2 more
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+5 more
GBenign/Likely benign
KCNMA1
(G375R +2 more)
Single nucleotide variant
(missense variant)
Liang-Wang syndrome
+2 more
GConflicting classifications of pathogenicity
KCNMA1
Indel
(inframe_indel)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+5 more
GUncertain significance
KCNMA1
(V61A)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+5 more
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 16
+4 more
GBenign/Likely benign
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GBenign
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