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Items: 1 to 100 of 501

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931064, LOC129931065
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
KCND3
Duplication
(3 prime UTR variant)
not provided
GLikely benign
KCND3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
KCND3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KCND3
(A635T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
(V630A +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(N629S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(N648D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(A627D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCND3
(I645T +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(I642F +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
KCND3
(T640M +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GConflicting classifications of pathogenicity
KCND3
(N639K +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
(P633T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(P632R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(P632L +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign
KCND3
(R611Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCND3
(R630W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCND3
(S629C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(G608R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCND3
(P625S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+1 more
GLikely benign
KCND3
(A603E +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(A603V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCND3
(A603S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(P602A +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(P601H +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(T600I +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCND3
(I617V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCND3
(I591T +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
(G581A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCND3
(G581R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCND3
(D580N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KCND3
(L576W +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(S572C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(R590H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCND3
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
Single nucleotide variant
(intron variant)
not provided
GBenign
KCND3
Single nucleotide variant
(intron variant)
not provided
GBenign
KCND3
Duplication
(intron variant)
not provided
GLikely benign
KCND3
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCND3
(T569A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCND3
(L586V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCND3
(S585F +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
KCND3
(Q583H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(E563G +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
(S581C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCND3
(Q579P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(I578T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+1 more
GLikely benign
KCND3
(T556M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(E553V +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(M570T +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(R568H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCND3
(R549C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+2 more
GConflicting classifications of pathogenicity
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
(R547H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCND3
(R547C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+2 more
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+1 more
GLikely benign
KCND3
(N540K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
KCND3
(P558R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(P539S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(T554S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(R531H +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+3 more
GConflicting classifications of pathogenicity
KCND3
(R550C +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(R549H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
KCND3
(R549C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCND3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCND3
(T526I +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(G522D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(H539N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
(P534L +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(P515T +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
+1 more
GUncertain significance
KCND3
(S511T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
GLikely benign
KCND3
(P510L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCND3
(M506R +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 19/22
GUncertain significance
KCND3
(M525V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
KCND3
(E522K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
KCND3
(M521V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
KCND3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 19/22
+1 more
GLikely benign
KCND3
(C501Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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