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Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
+3 more
GBenign
RBM20
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
RBM20
(S75L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
RBM20
(A87T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
RBM20
(A150T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
RBM20
(T162I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
(P173T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
RBM20
(T177S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RBM20
(T177I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RBM20
(G179D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RBM20
(P182T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RBM20
(G227V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+5 more
GConflicting classifications of pathogenicity
RBM20
(E230*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GUncertain significance
RBM20
(G232D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+3 more
GBenign/Likely benign
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RBM20
(G284R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RBM20
(S306T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RBM20
(Q313fs)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
RBM20
(G379R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
+3 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
+5 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
RBM20
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1DD
+3 more
GLikely benign
RBM20
(L429P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RBM20
(S455L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
RBM20
(T467R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(T484I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
RBM20
(S498R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
(F510S)
Single nucleotide variant
(missense variant)
RBM20-related disorder
+5 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
RBM20
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1DD
+4 more
GConflicting classifications of pathogenicity
RBM20
(I581N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
(N582S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
(G583D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RBM20
(R589Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
RBM20
(V606M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+4 more
GConflicting classifications of pathogenicity
RBM20
(D620N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
Duplication
(intron variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GBenign/Likely benign
RBM20
Indel
(missense variant)
Cardiomyopathy
GPathogenic
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GBenign/Likely benign
RBM20
(R641Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GConflicting classifications of pathogenicity
RBM20
Indel
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RBM20
(Y681C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(E685fs)
Microsatellite
(frameshift variant)
Cardiomyopathy
GUncertain significance
RBM20
(P690L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(A691S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
(R703K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
RBM20
(P706T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
RBM20
(R711C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
(R716Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(no sequence alteration)
not specified
+3 more
GBenign
RBM20
(S768L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RBM20
(K773R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
RBM20
(A778V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+5 more
GConflicting classifications of pathogenicity
RBM20
(A788S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
(R791W)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
(A818S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RBM20
(E843G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
RBM20
(D888N)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
RBM20
(E898G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RBM20
(E907K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
RBM20
(E913K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+5 more
GPathogenic/Likely pathogenic
RBM20
(I921V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RBM20
(K963E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RBM20
(V969I)
Single nucleotide variant
(missense variant)
RBM20-related disorder
+5 more
GConflicting classifications of pathogenicity
RBM20
(P985S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GLikely benign
RBM20
(E1026K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(H1038N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
RBM20
(P1039S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GBenign/Likely benign
RBM20
(R1057Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
RBM20
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
RBM20
(A1076S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
(I1090fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RBM20
(I1090fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
(S1087fs)
Indel
(frameshift variant)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(P1088A)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GConflicting classifications of pathogenicity
RBM20
(P1088S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+1 more
GConflicting classifications of pathogenicity
RBM20
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
RBM20
(P1089A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(V1102L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
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