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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCAP
(S11L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TCAP
(E13del)
Microsatellite
(inframe_deletion)
Primary familial hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TCAP
Duplication
(nonsense)
Hypertrophic cardiomyopathy 25
+2 more
GPathogenic/Likely pathogenic
TCAP
(R18W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TCAP
(W22*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
TCAP
(R33W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TCAP
(E35*)
Single nucleotide variant
(nonsense)
Primary familial hypertrophic cardiomyopathy
+2 more
GPathogenic
TCAP
(C38F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TCAP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TCAP
(C57R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TCAP
(R70W)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+5 more
GUncertain significance
TCAP
(R70Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 25
+2 more
GConflicting classifications of pathogenicity
TCAP
(R76C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TCAP
(E80D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TCAP
(E105K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TCAP
(E105Q)
Single nucleotide variant
(missense variant)
Brugada syndrome
+7 more
GConflicting classifications of pathogenicity
TCAP
(R106C)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+7 more
GBenign/Likely benign
TCAP
(Q112*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TCAP
(L113F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TCAP
(A118V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TCAP
(R130C)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GUncertain significance
TCAP
(R130H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TCAP
(P141A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TCAP
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
TCAP
(L152V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TCAP
(R154S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TCAP
(R154C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
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