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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(D370E +2 more)
Single nucleotide variant
(missense variant)
Laminopathy
GLikely pathogenic
LMNA
(R216C +2 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
Deletion
Primary dilated cardiomyopathy
+1 more
GPathogenic
LMNA
(R349W +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+15 more
GConflicting classifications of pathogenicity
LMNA
(R249G +2 more)
Single nucleotide variant
(missense variant)
Laminopathy
+1 more
GLikely pathogenic
LMNA
(R541C +2 more)
Single nucleotide variant
(missense variant +1 more)
Laminopathy
+5 more
GPathogenic/Likely pathogenic
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+20 more
GPathogenic/Likely pathogenic
LMNA
(R482Q +2 more)
Single nucleotide variant
(missense variant)
Laminopathy
+16 more
GConflicting classifications of pathogenicity
LMNA
(R571S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
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