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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(V44F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA
(R99S)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+12 more
GUncertain significance
LMNA
(N150S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+15 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+4 more
GPathogenic
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+20 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 2
+13 more
GPathogenic
LMNA
(D448N +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1A
GUncertain significance
LMNA
(R644C +6 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+17 more
GConflicting classifications of pathogenicity
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