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Items: 1 to 100 of 990

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861081, LOC126861082
+1036 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+1097 more
Copy number gain
See cases
GPathogenic
LOC130004745, LOC130004746
+802 more
Copy number gain
See cases
GPathogenic
VAX1, VENTX
+679 more
Copy number gain
See cases
GPathogenic
DCLRE1A, ABLIM1
+248 more
Copy number gain
See cases
GLikely pathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
ATE1-AS1, BAG3
+119 more
Copy number gain
See cases
GPathogenic
BAG3
Single nucleotide variant
not provided
GBenign
BAG3
Single nucleotide variant
not provided
GBenign
BAG3
Single nucleotide variant
not provided
GBenign
BAG3
Single nucleotide variant
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Duplication
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 6
+2 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
+2 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
+1 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
+2 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
BAG3
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
BAG3
Duplication
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1HH
GUncertain significance
BAG3
(M1L)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(M1R)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 6
+2 more
GUncertain significance
BAG3
(S2N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
BAG3
(A3T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(A3S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(T5A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+2 more
GConflicting classifications of pathogenicity
BAG3
(T5I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(S7P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
BAG3
(S7L)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(S7*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
BAG3
(P8S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(M9V)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+4 more
GBenign/Likely benign
BAG3
(M10V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(M10fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GPathogenic
BAG3
(M10I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(M10I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(Q11L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(V12M)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+2 more
GUncertain significance
BAG3
(S14fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(S14F)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+2 more
GUncertain significance
BAG3
(N16D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+3 more
GUncertain significance
BAG3
(G17R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
BAG3
(G17A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(D18N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(R19C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+2 more
GUncertain significance
BAG3
(R19S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BAG3
(D20N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(P21A)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(P21R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(G25fs)
Duplication
(frameshift variant)
Myofibrillar myopathy 6
+3 more
GPathogenic/Likely pathogenic
BAG3
(P23S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
BAG3
(G25fs)
Deletion
(frameshift variant)
Myofibrillar myopathy 6
+2 more
GPathogenic/Likely pathogenic
BAG3
(P23L)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(P24S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(P24R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(G25E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
BAG3
(W26G)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(W26*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
BAG3
(I30V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
BAG3
(P32R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
BAG3
(Q33fs)
Deletion
(frameshift variant)
Myofibrillar myopathy 6
+1 more
GPathogenic
BAG3
(P32L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+1 more
GLikely benign
BAG3
(Q33H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(T34fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
BAG3
(T34I)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(G35S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(G35C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(G35D)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
BAG3
(W36*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
BAG3
(P37S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(F39del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 6
+2 more
GLikely benign
BAG3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
BAG3
(F39I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GUncertain significance
BAG3
(F39S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
BAG3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1HH
+1 more
GLikely benign
BAG3
(D41G)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
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