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Items: 1 to 100 of 1850

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC2, ABLIM1
+821 more
Copy number gain
See cases
GPathogenic
LOC126861081, LOC126861082
+1036 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+1097 more
Copy number gain
See cases
GPathogenic
ACSL5, ADD3
+318 more
Copy number loss
See cases
GPathogenic
LOC130004776, LOC130004777
+308 more
Copy number loss
See cases
GPathogenic
LOC130004745, LOC130004746
+802 more
Copy number gain
See cases
GPathogenic
LOC130004732, RBM20
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
RBM20
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
RBM20
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
RBM20
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1DD
GUncertain significance
LOC111875823, LOC126861041
+3 more
Deletion
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RBM20
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
RBM20
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RBM20
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GLikely benign
RBM20
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
RBM20
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
RBM20
(V2L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RBM20
(V2A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
RBM20
(A5V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(A6T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
(M7V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBM20
(M7L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBM20
(M7R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(M7T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
RBM20
(Q9*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(Q9H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GConflicting classifications of pathogenicity
RBM20
(A11V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBM20
(D12V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(D12E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
RBM20
(S14R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
RBM20
(G15R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GBenign
RBM20
(G15S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(E17V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBM20
(Q18K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(P19T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(P19R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM20
(D20Y)
Indel
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
RBM20
(A23G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
RBM20
(A23V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(C24S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(C24R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(P27H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(G28D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GConflicting classifications of pathogenicity
RBM20
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(R30G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
RBM20
(R30P)
Indel
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
RBM20
(P33fs)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
RBM20
(P33R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RBM20
(P35S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(P35T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(P35R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
(G37fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
+1 more
GBenign/Likely benign
RBM20
(R39*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(R39Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
RBM20
(G40R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(G40A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(M41L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Microsatellite
(inframe_insertion)
Dilated Cardiomyopathy, Dominant
+4 more
GConflicting classifications of pathogenicity
RBM20
(Q42*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GUncertain significance
RBM20
(Q42R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
+1 more
GLikely benign
RBM20
Duplication
(inframe_insertion)
Dilated cardiomyopathy 1DD
+2 more
GConflicting classifications of pathogenicity
RBM20
(Q43*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Microsatellite
(inframe_insertion)
Dilated cardiomyopathy 1DD
+1 more
GConflicting classifications of pathogenicity
RBM20
Duplication
(inframe_insertion)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(Q43P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
RBM20
(P48del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
RBM20
(P44T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(P44R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(P44Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GLikely benign
RBM20
(P45R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
(P45L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Duplication
(inframe_insertion)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Duplication
(inframe_insertion)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Duplication
(inframe_insertion)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RBM20
Deletion
(inframe_deletion)
Cardiovascular phenotype
+2 more
GUncertain significance
RBM20
(P46S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
(P46Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
GLikely benign
RBM20
Duplication
(inframe_insertion)
Dilated cardiomyopathy 1DD
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBM20
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1DD
GUncertain significance
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