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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, GJD2-DT
(E363G)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(A333P)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GPathogenic
ACTC1, GJD2-DT
(R314H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+4 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(A297S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GPathogenic
ACTC1, GJD2-DT
(P166A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ACTC1, GJD2-DT
(M125V)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
GPathogenic
ACTC1, GJD2-DT
(E101K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
ACTC1, GJD2-DT
(H90Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
ACTC1, GJD2-DT
(P72fs)
Deletion
(frameshift variant)
Atrial septal defect 5
GPathogenic
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