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Items: 1 to 100 of 451

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSRP3, CSRP3-AS1
+86 more
Copy number loss
See cases
GPathogenic
CSRP3, CSRP3-AS1
+83 more
Copy number gain
See cases
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
GBenign
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
GLikely benign
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
CSRP3
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(R143H)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+3 more
GBenign/Likely benign
CSRP3
Single nucleotide variant
(stop lost +1 more)
Hypertrophic cardiomyopathy 12
GUncertain significance
CSRP3
(N138K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
CSRP3
(N138S)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CSRP3
(K193fs +1 more)
Microsatellite
(frameshift variant)
not specified
+1 more
GUncertain significance
CSRP3
(E194Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CSRP3
(K192N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+2 more
GUncertain significance
CSRP3
(R136fs +1 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CSRP3
(E191V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CSRP3
(V190L +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GUncertain significance
CSRP3
(Q189del +1 more)
Microsatellite
(inframe_deletion)
Dilated cardiomyopathy 1M
+2 more
GUncertain significance
CSRP3
(H131Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(G185S)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(E128K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CSRP3
(G182R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
CSRP3
(I181fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
CSRP3
(I181T)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+2 more
GUncertain significance
CSRP3
(I181V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CSRP3
(G180V +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CSRP3
(G180C)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+2 more
GConflicting classifications of pathogenicity
CSRP3
(R123Q)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(T179M +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CSRP3
(T179A)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
CSRP3
(P122S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(P178A)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CSRP3
(P178S)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CSRP3
(F176V +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CSRP3
(I119fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(I119V +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(P117S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(Y172* +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(M116T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+3 more
GLikely benign
CSRP3
(Y172H)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(A115V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CSRP3
(C171R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CSRP3
(C171G +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CSRP3
Microsatellite
(splice acceptor variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CSRP3
Single nucleotide variant
(intron variant)
not specified
GBenign
CSRP3
Single nucleotide variant
(intron variant)
not provided
GBenign
CSRP3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
not provided
GBenign
CSRP3
Single nucleotide variant
(intron variant)
not provided
GBenign
CSRP3
Deletion
(intron variant)
not provided
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
not provided
GBenign
CSRP3
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+2 more
GLikely benign
CSRP3
Duplication
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+2 more
GBenign/Likely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(V170F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSRP3
(I111T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(L166R +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CSRP3
(N109K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CSRP3
(M107I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(K162fs +1 more)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 1
GUncertain significance
CSRP3
(D161N)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(D161H)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(L104P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(T160N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(N158D)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
CSRP3
(P100fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(P100S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+2 more
GUncertain significance
CSRP3
(S99N)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+2 more
GLikely benign
CSRP3
(E155D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CSRP3
(L154R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(L154V)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(S153R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(S153I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CSRP3
(R96fs +1 more)
Microsatellite
(frameshift variant)
Cardiomyopathy
+3 more
GUncertain significance
CSRP3
(R96K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CSRP3
(K152R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CSRP3
(G151E +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(C150Y +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
CSRP3
(I149F)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(P92S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CSRP3
(C147R)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+2 more
GUncertain significance
CSRP3
(A90S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(R146H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
CSRP3
(R146C)
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
+5 more
GUncertain significance
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