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Items: 1 to 100 of 893

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1
(K1021R +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
KCNMA1-related disorder
+1 more
GLikely benign
KCNMA1
Duplication
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+1 more
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Microsatellite
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GBenign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GBenign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Microsatellite
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GBenign
KCNMA1
Microsatellite
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Microsatellite
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Duplication
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(R1177Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNMA1
(R1218W +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(E1216K +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GConflicting classifications of pathogenicity
KCNMA1
Single nucleotide variant
(synonymous variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
Single nucleotide variant
(synonymous variant +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(Y1172* +5 more)
Single nucleotide variant
(nonsense +1 more)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely benign
KCNMA1
(R1170Q +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNMA1
(R1117W +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+2 more
GUncertain significance
KCNMA1
(S1170P +9 more)
Single nucleotide variant
(missense variant)
See cases
+3 more
GUncertain significance
KCNMA1
(R1013G +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNMA1
(S1012T +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
GConflicting classifications of pathogenicity
KCNMA1
(R1009L +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNMA1
(R1160Q +9 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KCNMA1
(R1163W +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(N1159K +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(N1163S +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GConflicting classifications of pathogenicity
KCNMA1
(R1157Q +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(R1107* +9 more)
Single nucleotide variant
(nonsense)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(N1156S +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+1 more
GUncertain significance
KCNMA1
(A1004T +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNMA1
(T1154I +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNMA1
(T1003A +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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
Single nucleotide variant
(synonymous variant)
KCNMA1-related disorder
+2 more
GConflicting classifications of pathogenicity
KCNMA1
(I1000V +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNMA1
(S1150Y +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
(H1099N +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(S1096F +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(S1179I +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
(S1145C +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(S1145G +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+1 more
GUncertain significance
KCNMA1
(Q1142R +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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNMA1
(S1142W +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNMA1
(S1142L +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
(S1167L +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
(H1170R +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
KCNMA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNMA1
(S1085F +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GUncertain significance
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