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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDB3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
LDB3
(G54S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LDB3
(V55I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
LDB3
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LDB3
(V118M)
Single nucleotide variant
(missense variant +1 more)
LDB3-related condition
+6 more
GBenign/Likely benign
LDB3
(S189L)
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(intron variant)
LDB3-related condition
+4 more
GBenign/Likely benign
LDB3, LOC110121486
(D117N +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LDB3, LOC110121486
(A152V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LDB3
Single nucleotide variant
(intron variant)
Myofibrillar Myopathy, Dominant
+7 more
GConflicting classifications of pathogenicity
LDB3
Deletion
(intron variant)
not specified
+2 more
GUncertain significance
LDB3
Microsatellite
(intron variant)
not specified
+1 more
GBenign/Likely benign
LDB3
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LDB3
(R263C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LDB3
(A346T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LDB3
(A374T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LDB3
Single nucleotide variant
(genic downstream transcript variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
LDB3
(Q512P +4 more)
Single nucleotide variant
(genic downstream transcript variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LDB3
Single nucleotide variant
(genic downstream transcript variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
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