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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+20 more
GBenign/Likely benign
LMNA
(E55D)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(D185fs +2 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
LMNA
Deletion
(splice acceptor variant)
Proximal muscle weakness
GLikely pathogenic
LMNA
(T312P +2 more)
Single nucleotide variant
(missense variant)
Polyneuropathy
GUncertain significance
LMNA
Single nucleotide variant
Cardiomyopathy
GUncertain significance
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