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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC126805877
(R133Q +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(intron variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic