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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASQ2
(E399K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CASQ2
(D398del)
Deletion
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
CASQ2
Microsatellite
(inframe_insertion)
not specified
+5 more
GConflicting classifications of pathogenicity
CASQ2
(D383del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CASQ2
(D379V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GUncertain significance
CASQ2
(D351G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(intron variant)
Cardiomyopathy
+7 more
GBenign/Likely benign
VANGL1, CASQ2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
CASQ2
(P329S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+4 more
GUncertain significance
CASQ2
(D310N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GConflicting classifications of pathogenicity
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GLikely benign
CASQ2
(E275V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CASQ2
(R251C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
CASQ2
Duplication
(intron variant)
not provided
+3 more
GBenign
CASQ2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GBenign/Likely benign
CASQ2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GBenign
CASQ2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GBenign
CASQ2
Deletion
(intron variant)
not specified
+4 more
GBenign
CASQ2
(H244R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GBenign/Likely benign
CASQ2
(F189L)
Single nucleotide variant
(missense variant)
Sudden unexplained death
+8 more
GConflicting classifications of pathogenicity
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GLikely benign
CASQ2
(Y178H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CASQ2
(E159K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GLikely benign
CASQ2
(E128K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GUncertain significance
CASQ2
(D126H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
CASQ2
(V76M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
CASQ2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CASQ2
(K2R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
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