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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to LMNA mutation
+24 more
GConflicting classifications of pathogenicity
PPARG
(P495L +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic