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Items: 1 to 100 of 131

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
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+4 more
GLikely benign
GJD2-DT, ACTC1
(A367T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GLikely benign
ACTC1, GJD2-DT
(D365N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+7 more
GBenign/Likely benign
ACTC1, GJD2-DT
(S360G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+5 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+3 more
GLikely benign
ACTC1, GJD2-DT
(I332V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+5 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+6 more
GConflicting classifications of pathogenicity
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
+1 more
GLikely benign
ACTC1, GJD2-DT
(M138I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
(T280S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(splice acceptor variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Cardiomyopathy
+5 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Cardiomyopathy
+4 more
GLikely benign
GJD2-DT, ACTC1
Indel
(intron variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Deletion
(intron variant)
Cardiomyopathy
GLikely benign
GJD2-DT, ACTC1
(F268L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+5 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+5 more
GLikely benign
ACTC1, GJD2-DT
(R208H)
Single nucleotide variant
(missense variant)
ACTC1-related disorder
+8 more
GUncertain significance
GJD2-DT, ACTC1
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GBenign/Likely benign
ACTC1, GJD2-DT
Deletion
(intron variant)
Cardiomyopathy
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+3 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
(L195F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(H175fs)
Duplication
(frameshift variant)
not provided
+5 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
ACTC1, GJD2-DT
(Y168*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 11
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 11
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+3 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)
Dilated cardiomyopathy 1R
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1R
+3 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 11
+6 more
GLikely benign
ACTC1, GJD2-DT
(A133V)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+3 more
GUncertain significance
ACTC1, GJD2-DT
(N130S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
(F126C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
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 11
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+3 more
GLikely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GBenign/Likely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+7 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+3 more
GLikely benign
ACTC1, GJD2-DT
(Y93C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 11
+6 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GBenign/Likely benign
GJD2-DT, ACTC1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
ACTC1, GJD2-DT
(I73V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
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