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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA4
(I1810T +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GBenign/Likely benign
LAMA4
(R1775C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+2 more
GBenign/Likely benign
LAMA4
(L1611F +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+2 more
GBenign/Likely benign
LAMA4
(N1542S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign
LAMA4
(P1396L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+2 more
GBenign
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+2 more
GBenign
LAMA4
(V1308I +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LAMA4
(N1097S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+2 more
GUncertain significance
LAMA4
(R1092I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LAMA4
(R1073Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
LAMA4
(R1030* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
(V977I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+2 more
GLikely benign
LAMA4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LAMA4
(P860T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+2 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(F762L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+2 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
LAMA4
(R717K +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LAMA4
(H586R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
(R538C +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+6 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LAMA4
(D386* +1 more)
Insertion
(nonsense)
Dilated cardiomyopathy 1JJ
GUncertain significance
LAMA4
Single nucleotide variant
(synonymous variant)
LAMA4-related disorder
+3 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1JJ
+4 more
GBenign/Likely benign
LAMA4
(E285K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GUncertain significance
LAMA4
(A281G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+4 more
GConflicting classifications of pathogenicity
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
GLikely benign
LAMA4
(R223H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LAMA4
(G172S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+4 more
GLikely benign
LAMA4
(R154W)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LAMA4
Single nucleotide variant
(intron variant)
Cardiomyopathy
+2 more
GBenign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign/Likely benign
LAMA4
(G94S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GBenign/Likely benign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+1 more
GBenign
LAMA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1JJ
+1 more
GConflicting classifications of pathogenicity
LAMA4, LAMA4-AS1
(D29H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1JJ
+2 more
GBenign/Likely benign
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