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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILK, TAF10
(L53M)
Single nucleotide variant
(missense variant +2 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TAF10, ILK
(R149Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
ILK, TAF10
(R211C +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TAF10, ILK
(F245Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
ILK, TAF10
(N321S +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
ILK, TAF10
(D394N +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
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