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Links from MedGen

Items: 1 to 100 of 952

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAG3
(C373*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1HH
GLikely pathogenic
BAG3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1HH
GUncertain significance
BAG3
Duplication
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Duplication
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Duplication
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Duplication
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Deletion
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
(Q146*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1HH
GLikely pathogenic
BAG3
(R481T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(I96fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(K460R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(T285A)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(N67I)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(M9I)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(A160T)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
BAG3
(R45G)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P292S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(G197S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(Q222H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P562T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(I211L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(A13fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
(E404G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(P84A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(V299F)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(S198C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(A531S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(Q116*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
(T549fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(L494P)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(D482fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(V383A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(R90Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(D31H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(S284I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(M525L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(T547A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(L491V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(Q150*)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 6
+1 more
GPathogenic
BAG3
(P416S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P502S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(K418E)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P357fs)
Duplication
(frameshift variant)
Myofibrillar myopathy 6
+1 more
GPathogenic
BAG3
(Q120R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(W49*)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 6
+1 more
GPathogenic
BAG3
Deletion
(intron variant)
Myofibrillar myopathy 6
+1 more
GBenign
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(S352T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(I337fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
(K497Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(M306V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(C179Y)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(A517S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(P95S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(G503S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(S268*)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 6
+1 more
GPathogenic
BAG3
(H243Q)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P552fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(G197D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(E57G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(P420A)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(E543Q)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P290A)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(I211V)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(E543G)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(K365Q)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(A498fs)
Deletion
(frameshift variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(I250M)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(Q522R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(A413G)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(M565L)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(A13V)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(A369V)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(S177P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
BAG3
(N50S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+2 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
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