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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(K32E)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+1 more
GPathogenic/Likely pathogenic
LMNA
(R482W +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+16 more
GPathogenic
LMNA
(R545C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GConflicting classifications of pathogenicity
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+24 more
GConflicting classifications of pathogenicity
LMNA
(S573L +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B1
+6 more
GConflicting classifications of pathogenicity
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