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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(T54M)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+14 more
GUncertain significance
LMNA
(K117R)
Single nucleotide variant
(missense variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(R156C +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GUncertain significance
LMNA
(E203K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LMNA
(R216H +2 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+20 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
(V415I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GConflicting classifications of pathogenicity
LMNA
(S429N +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+14 more
GUncertain significance
LMNA
(V442M +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
+14 more
GConflicting classifications of pathogenicity
LMNA
(R482Q +2 more)
Single nucleotide variant
(missense variant)
Laminopathy
+15 more
GPathogenic
LMNA
(T496M +2 more)
Single nucleotide variant
(missense variant)
not provided
+18 more
GConflicting classifications of pathogenicity
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Lethal tight skin contracture syndrome
+23 more
GConflicting classifications of pathogenicity
LMNA
(S573L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LMNA
(V474M +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+15 more
GUncertain significance
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