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Links from MedGen

Items: 1 to 100 of 428

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, GJD2-DT
(S315N +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
(M285R +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(D181N +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(Q310* +2 more)
Single nucleotide variant
(nonsense)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(N14D)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(G300A +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(M1V)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(V141L +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(D213E +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(K170N +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GLikely pathogenic
ACTC1, GJD2-DT
(E29Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(S136T +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(L96F +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(V11L)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(K193R +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(G253A +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(D37N +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Deletion
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(M124I +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(G15R)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(N68Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(P113A +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(N68H +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(A99V +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(S257Y +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(T60I +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(I36M)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+3 more
GUncertain significance
ACTC1, GJD2-DT
(P200S +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+3 more
GLikely benign
ACTC1, GJD2-DT
(A174V +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(stop lost)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(T106I +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(D141fs +2 more)
Deletion
(frameshift variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(T122I +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(A31V)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(A185V +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
ACTC1-related disorder
+3 more
GLikely benign
ACTC1, GJD2-DT
(S370C +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(K272R +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
ACTC1, GJD2
+6 more
Deletion
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Atrial septal defect 5
+3 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1R
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
(D53N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
(P129T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1R
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1R
+2 more
GLikely benign
ACTC1, GJD2-DT
(A110V +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
(Y175F +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Atrial septal defect 5
+2 more
GLikely benign
ACTC1, GJD2-DT
(V14I +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(L18M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
Deletion
(splice acceptor variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
(F81I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
Microsatellite
(intron variant)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
(V32L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+3 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
(T106A +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
+2 more
GUncertain significance
ACTC1, GJD2-DT
(P55T +1 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GUncertain significance
ACTC1, GJD2-DT
(A21T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTC1, GJD2-DT
(A28T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GUncertain significance
ACTC1, GJD2-DT
(S102C +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GUncertain significance
ACTC1, GJD2-DT
(M210T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GUncertain significance
ACTC1, GJD2-DT
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
ACTC1, GJD2-DT
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 11
+2 more
GLikely benign
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