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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126805877, LMNA
Single nucleotide variant
(synonymous variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+16 more
GConflicting classifications of pathogenicity
LMNA
(I299V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LMNA
(R435C +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
(R527H +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
LMNA
(R512C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LMNA
(R644C +6 more)
Single nucleotide variant
(missense variant +1 more)
Mandibuloacral dysplasia with type A lipodystrophy
+17 more
GConflicting classifications of pathogenicity
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