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Links from MedGen

Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDB3
(S203W)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
Microsatellite
(inframe_insertion +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(R431Q +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GLikely benign
LDB3
(T475I +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(E540* +4 more)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3
(I52T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LDB3
(V307A +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LDB3
(T435S +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
(V5M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3
(P164L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(A201T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 4
+1 more
GLikely benign
LDB3
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 4
+2 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
(P606S +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GPathogenic
LDB3
(F496L +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GPathogenic
LDB3
(F465I +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GPathogenic
LDB3
(P295T +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
(D193N +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GLikely pathogenic
LDB3
(S184R +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GLikely benign
LDB3
(S184I +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GLikely benign
LDB3
Microsatellite
(inframe_deletion +1 more)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3
(R440C +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3
Deletion
(intron variant +1 more)
Myofibrillar myopathy 4
+2 more
GUncertain significance
LDB3
(G19R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LDB3
(A195T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LDB3
(S298P +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(G450S +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(R341H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3, LOC130004243
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(V49L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LDB3
(E215K +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+2 more
GUncertain significance
LDB3, LOC110121486
Single nucleotide variant
(intron variant)
not provided
GBenign
LDB3, LOC110121486
(N111K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LDB3
Indel
(inframe_indel)
Cardiovascular phenotype
+2 more
GUncertain significance
LDB3
(R294Q +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+4 more
GUncertain significance
LDB3
(M456V +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
LDB3
(S435G +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+3 more
GUncertain significance
LDB3
(T507N +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3, LOC110121486
(D164H +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1C
+1 more
GUncertain significance
LDB3
(I725N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LDB3
(P183fs)
Deletion
(frameshift variant +1 more)
Myofibrillar myopathy 4
+2 more
GConflicting classifications of pathogenicity
LDB3
(T113M)
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
LDB3
(R568H +4 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GUncertain significance
LDB3
(R564Q +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+4 more
GUncertain significance
LDB3
(N222H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LDB3
(T79I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1C
+2 more
GUncertain significance
LDB3
(A501V +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LDB3
(P418R +4 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+5 more
GUncertain significance
LDB3
(R249* +2 more)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 4
+1 more
GUncertain significance
LDB3
Single nucleotide variant
(genic downstream transcript variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
LDB3
(T430N +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 4
+2 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Myofibrillar Myopathy, Dominant
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Myofibrillar Myopathy, Dominant
+4 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(intron variant +1 more)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(3 prime UTR variant +1 more)
Myofibrillar Myopathy, Dominant
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar Myopathy, Dominant
+3 more
GUncertain significance
LDB3
(Q409K +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+4 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LDB3, LOC110121486
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LDB3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LDB3
(K184E)
Single nucleotide variant
(intron variant +1 more)
LDB3-related condition
+5 more
GConflicting classifications of pathogenicity
LDB3
(S385G +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3
Single nucleotide variant
(genic downstream transcript variant +1 more)
not provided
+4 more
GBenign/Likely benign
LDB3
(R165Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3, LOC110121486
(P124T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial dilated cardiomyopathy
+3 more
GUncertain significance
LDB3
(Q18H)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+4 more
GUncertain significance
LDB3
(P523A +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3
(F496S +4 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 4
+4 more
GUncertain significance
LDB3
(A319T +1 more)
Single nucleotide variant
(genic downstream transcript variant +2 more)
Cardiovascular phenotype
+3 more
GUncertain significance
LDB3
(R218H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 4
+2 more
GBenign/Likely benign
LDB3
(A110T)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 4
+2 more
GConflicting classifications of pathogenicity
LDB3
(R148Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LDB3
(E592Q +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LDB3, LOC110121486
Single nucleotide variant
(synonymous variant +1 more)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
LDB3
(S349T +1 more)
Single nucleotide variant
(missense variant +1 more)
LDB3-related condition
+5 more
GLikely benign
LDB3
(R600* +4 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LDB3
(Y597H +4 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
LDB3
(V536A +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
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