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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(Q6*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
LMNA, LOC126805877
(E145K +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford progeria syndrome, atypical
GPathogenic
LMNA
(N195K +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic
LMNA
(E203K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LMNA
(L215P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
LMNA
(H222Y +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
GPathogenic
LMNA
(E223K +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
Gnot provided
LMNA
(R225* +2 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+5 more
GPathogenic
LMNA
(R225Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
LMNA
(R240fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
LMNA
(R435C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LMNA
(R527C +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
LMNA
(M540T +2 more)
Single nucleotide variant
(missense variant +1 more)
Hutchinson-Gilford syndrome
GPathogenic
LMNA
(R571S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
LMNA
Deletion
(splice acceptor variant +1 more)
Hutchinson-Gilford syndrome
Gnot provided
LMNA
(C561S +2 more)
Single nucleotide variant
(missense variant)
Hutchinson-Gilford syndrome
Gnot provided
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Hutchinson-Gilford syndrome
GPathogenic
LMNA
(G608S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hutchinson-Gilford syndrome
GPathogenic
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Hutchinson-Gilford syndrome
+3 more
GPathogenic
LMNA
(T593S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
Gnot provided
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Hutchinson-Gilford progeria syndrome, atypical
GPathogenic
LMNA
Single nucleotide variant
(splice donor variant +1 more)
Hutchinson-Gilford syndrome
Gnot provided
LMNA
Single nucleotide variant
(splice donor variant +1 more)
Restrictive dermopathy 2
+1 more
GPathogenic
LMNA
Single nucleotide variant
(splice donor variant +1 more)
Hutchinson-Gilford syndrome
Gnot provided
LMNA
Single nucleotide variant
(intron variant +1 more)
Hutchinson-Gilford syndrome
Gnot provided
LMNA
Single nucleotide variant
(intron variant)
Hutchinson-Gilford syndrome
GPathogenic
LMNA
Single nucleotide variant
(intron variant)
Hutchinson-Gilford syndrome
Gnot provided
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