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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCAP
(S11L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+6 more
GConflicting classifications of pathogenicity
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TCAP
(S64L)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+6 more
GBenign
TCAP
(R70W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TCAP
(R76C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TCAP
(E105K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TCAP
(R106C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
TCAP
(R130C)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2G
+5 more
GUncertain significance
TCAP
Single nucleotide variant
(synonymous variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GLikely benign
TCAP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign
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