U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

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)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+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)
Charcot-Marie-Tooth disease type 2
+2 more
GPathogenic/Likely pathogenic
LOC129931597, LMNA
(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
+1 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)
Charcot-Marie-Tooth disease type 2
+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)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination