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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(E203K +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LMNA
(R349W +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+15 more
GConflicting classifications of pathogenicity
LMNA
(C410R +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+4 more
Gnot provided
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