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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(G523R +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GUncertain significance
MIPEP
(E602*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+2 more
GPathogenic
MIPEP
(L582R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MIPEP
(H512D)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
+3 more
GConflicting classifications of pathogenicity
MIPEP
(K343E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MIPEP
(L306F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MIPEP
(L71Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
C1QTNF9, C1QTNF9B
+6 more
Copy number loss
Cardiomyopathy
+2 more
GPathogenic
MYH7
(R369Q)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
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