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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(G232R +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic
LMNA
(T528R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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