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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, GJD2-DT
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(I371T)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+6 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GLikely benign
ACTC1, GJD2-DT
Duplication
(inframe_insertion)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 11
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(A333S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+3 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+7 more
GBenign/Likely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
(M271T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(F257L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+4 more
GLikely benign
ACTC1, GJD2-DT
(G247D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+4 more
GPathogenic/Likely pathogenic
GJD2-DT, ACTC1
Deletion
(inframe_indel +1 more)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GBenign/Likely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
GJD2-DT, ACTC1
(I177V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+3 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
(I167T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+5 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+6 more
GBenign/Likely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 11
+6 more
GLikely benign
ACTC1, GJD2-DT
(I124M)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
GJD2-DT, ACTC1
(E101K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+7 more
GPathogenic/Likely pathogenic
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
ACTC1, GJD2-DT
(A60T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
(intron variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1R
+3 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GLikely benign
ACTC1, GJD2-DT
(L10M)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+7 more
GConflicting classifications of pathogenicity
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