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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(D47N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA
(R50C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(T157fs +3 more)
Indel
(frameshift variant +2 more)
Congenital muscular dystrophy due to LMNA mutation
GLikely pathogenic
LMNA
(R108H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LMNA
(R249Q +2 more)
Single nucleotide variant
(missense variant)
Abnormality of the musculature
+8 more
GPathogenic/Likely pathogenic
LMNA
(R388C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
LMNA
(V442M +2 more)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+14 more
GConflicting classifications of pathogenicity
LMNA
(R453W +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
LMNA
(W312C +5 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy
GLikely pathogenic
LMNA
(R527C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
LMNA
(R541H +2 more)
Single nucleotide variant
(missense variant +1 more)
Hutchinson-Gilford syndrome
+7 more
GPathogenic/Likely pathogenic
LMNA
(G562R +2 more)
Single nucleotide variant
(missense variant)
Familial partial lipodystrophy, Dunnigan type
+12 more
GUncertain significance
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