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Items: 1 to 100 of 2095

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
ARHGEF2, ARHGEF2-AS2
+90 more
Copy number gain
See cases
GUncertain significance
ARHGEF2-AS2, ARHGEF2
+44 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2B1
+10 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Hutchinson-Gilford syndrome
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+10 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1A
+10 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LMNA
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Congenital muscular dystrophy due to LMNA mutation
+10 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Congenital muscular dystrophy due to LMNA mutation
+10 more
GLikely benign
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LMNA
Single nucleotide variant
(5 prime UTR variant)
Maturity onset diabetes mellitus in young
+12 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LMNA
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LMNA, LOC120893162
+5 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC120893162
+5 more
Deletion
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC120893162
+3 more
Deletion
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
LMNA, LOC129931597
Deletion
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
LMNA
Deletion
(inframe_deletion +1 more)
not provided
Gnot provided
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
LMNA, LOC129931597
(M1fs)
Deletion
(frameshift variant +3 more)
not provided
GLikely pathogenic
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+12 more
GUncertain significance
LMNA
(M1V)
Single nucleotide variant
(missense variant +3 more)
Cardiovascular phenotype
GPathogenic
LMNA
(M1L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
BGLAP, LMNA
+23 more
Deletion
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC129931597
Deletion
Primary dilated cardiomyopathy
+1 more
GPathogenic
LMNA
(M1K)
Single nucleotide variant
(missense variant +3 more)
Cardiovascular phenotype
GPathogenic
LMNA
(M1I)
Single nucleotide variant
(missense variant +1 more)
See cases
+2 more
GPathogenic
LMNA
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LMNA
(M1I)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic/Likely pathogenic
LMNA
(E2K)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
GUncertain significance
LMNA
(E2*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic
LMNA
(T3A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA
(S5fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(T3N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LMNA
(P4A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
LMNA
(P4S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA
(P4Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
LMNA
(P4L)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
LMNA
(P4R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+16 more
GBenign/Likely benign
LMNA
(S5fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
(Q6fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
LMNA, LOC129931597
(Q6*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GPathogenic
LMNA, LOC129931597
(R7W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(R7Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
GLikely benign
LMNA, LOC129931597
(R8S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(R8C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(R8G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(R8H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
LMNA, LOC129931597
(A9T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LMNA, LOC129931597
(A9P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(T10fs)
Duplication
(frameshift variant)
not provided
Gnot provided
LMNA, LOC129931597
(T10P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GLikely pathogenic
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
(R11C)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
LMNA, LOC129931597
(R11L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(A14fs)
Deletion
(frameshift variant +2 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC129931597
(G13R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant +2 more)
Cardiomyopathy
+2 more
GLikely benign
LMNA, LOC129931597
(A14T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(A14E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LMNA, LOC129931597
(Q15*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC129931597
(Q15P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(A16S)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
GUncertain significance
LMNA, LOC129931597
(A16V)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
(A16D)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+12 more
GUncertain significance
LMNA, LOC129931597
(S17fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC129931597, LMNA
(T19fs)
Duplication
(frameshift variant)
Primary dilated cardiomyopathy
+1 more
GPathogenic/Likely pathogenic
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+20 more
GBenign/Likely benign
LMNA, LOC129931597
(T19S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant +2 more)
Cardiovascular phenotype
GLikely benign
LMNA, LOC129931597
(P20S)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
GUncertain significance
LMNA, LOC129931597
(T24fs)
Insertion
(frameshift variant +2 more)
Charcot-Marie-Tooth disease type 2
GPathogenic
LMNA, LOC129931597
(P20L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(L21P)
Single nucleotide variant
(missense variant)
Developmental regression
+3 more
GUncertain significance
LMNA, LOC129931597
(S22A)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LMNA, LOC129931597
(S22fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LMNA, LOC129931597
(S22L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
(S22fs)
Indel
(frameshift variant)
not provided
GPathogenic
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