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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJD2-DT, ACTC1
(K375R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJD2-DT, ACTC1
(M285T)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+1 more
GUncertain significance
ACTC1, GJD2-DT
(T251A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GJD2-DT, ACTC1
(Y220H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTC1, GJD2-DT
(S201F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTC1, GJD2-DT
(P104L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ACTC1, GJD2-DT
(E101K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
GJD2-DT, ACTC1
(T91N)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
(R64K)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+4 more
GUncertain significance
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