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Links from MedGen

Items: 1 to 100 of 321

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(E53K)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(Q93fs)
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GPathogenic
CSRP3
(M134I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(S95C +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(C61Y)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely pathogenic
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(G63W)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely pathogenic
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(T160N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(D161N)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(S117P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(R100S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(K113T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(S46G)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(P122S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(M72I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(H19D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(N26K)
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
(Y62*)
Single nucleotide variant
(nonsense +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GPathogenic
CSRP3
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(A12G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(L80V)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(C13Y)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(D161H)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(E131Q)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CSRP3
(N109K +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+3 more
GUncertain significance
CSRP3
(A68V)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
GUncertain significance
CSRP3
Deletion
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3, IGSF22
+11 more
Deletion
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(K15E)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(Q70* +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(A90S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(E59G)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(D45N)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Duplication
(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
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
(P39L)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(P2Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1M
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(H52P)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(G185S)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(Y172* +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
(G124S)
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
Single nucleotide variant
(stop lost +1 more)
Hypertrophic cardiomyopathy 12
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1M
+2 more
GLikely benign
CSRP3
(C79S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+2 more
GUncertain significance
CSRP3
(R64S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+2 more
GUncertain significance
CSRP3
(E194Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CSRP3
(I181V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CSRP3
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1M
+2 more
GConflicting classifications of pathogenicity
CSRP3
(Q70K +1 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1M
+2 more
GConflicting classifications of pathogenicity
CSRP3
(A112E)
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1M
+2 more
GUncertain significance
CSRP3
(P52L)
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1M
+3 more
GConflicting classifications of pathogenicity
CSRP3
(S101T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
CSRP3
(H52Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CSRP3
(K142E)
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
CSRP3
(P47R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(S57N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CSRP3
(I111T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CSRP3
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(S71Y)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1M
+1 more
GLikely benign
CSRP3
(R42P)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
CSRP3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 12
+1 more
GLikely benign
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