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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA, LOC129931597
(Q6*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
LMNA, LOC129931597
(T10fs)
Duplication
(frameshift variant)
not provided
Gnot provided
LMNA, LOC129931597
(R11fs)
Deletion
(frameshift variant)
not provided
Gnot provided
LMNA, LOC129931597
(T10I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+20 more
GBenign/Likely benign
LMNA, LOC129931597
(R25C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic
LMNA, LOC129931597
(R25G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
(R25P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA, LOC129931597
(R28W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC129931597
(K32del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic
LMNA, LOC129931597
(E33G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC129931597
(E33D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(E33D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA, LOC129931597
(L35V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
LMNA, LOC129931597
(L35P)
Single nucleotide variant
(missense variant)
Muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
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