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Items: 1 to 100 of 342

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
not specified
+5 more
GBenign/Likely benign
PRKAG2
Single nucleotide variant
(3 prime UTR variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PRKAG2
(E444fs +4 more)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(E445Q +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
PRKAG2
(T568M +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
+2 more
GLikely benign
PRKAG2
(E565Q +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
PRKAG2
(Q322R +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(Q563* +4 more)
Single nucleotide variant
(nonsense)
Primary familial hypertrophic cardiomyopathy
+4 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
+1 more
GConflicting classifications of pathogenicity
PRKAG2
(A434V +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(T316P +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
+4 more
GLikely benign
PRKAG2
(A312D +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
PRKAG2
(S305C +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
PRKAG2
(I319F +13 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+2 more
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign
PRKAG2
(I416V +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(S540G +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(D298N +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 6
+7 more
GBenign/Likely benign
PRKAG2
(R531L +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
PRKAG2
(V397M +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GLikely benign
PRKAG2
(T519A +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(N388S +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
PRKAG2
(N512I +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
PRKAG2
(Q503R +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
PRKAG2
(R260H +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(Q374R +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
PRKAG2
(I492N +4 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
PRKAG2
(N248S +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
PRKAG2
(E440Q +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(V237I +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+4 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
(V426I +4 more)
Indel
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(E341G +13 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(D464N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
PRKAG2
(R215G +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PRKAG2
(R411K +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(E330G +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+2 more
GUncertain significance
PRKAG2
(V211L +13 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GLikely benign
PRKAG2
(I401F +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(T201I +13 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(H199R +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(H440Y +4 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
PRKAG2
(N435S +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
PRKAG2
(N311D +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GBenign/Likely benign
PRKAG2
(Q423K +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
PRKAG2
(A178T +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
+4 more
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
PRKAG2
(P191S +13 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(S172C +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
+2 more
GLikely benign
PRKAG2
(K277E +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
+2 more
GLikely benign
PRKAG2
(I157V +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
PRKAG2
(A270V +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
(I150T +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
(D372N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
PRKAG2
(F246Y +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
+2 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
PRKAG2
(A244S +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
PRKAG2
(T313I +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
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