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Links from MedGen

Items: 1 to 100 of 1218

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC9
(C6fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(Q350L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V615A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(E662K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Duplication
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(K1029E +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(M636I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(D381H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(R1189K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Microsatellite
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(Q630H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(S680P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V441D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(M678T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(D635N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(R1082S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(T641A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(D1316N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(W443G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(N198K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(P451L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(Y140F)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Duplication
(splice donor variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(N134K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GPathogenic
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(W141S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(G1514fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(N488K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(I1236fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(T400K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(S118L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(R214K)
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(D964V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(L700* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(S737F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V985F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(A849V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Deletion
(nonsense)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(P509S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(A389S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Microsatellite
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(N1196S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Duplication
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(S630F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
(R530I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
GUncertain significance
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