"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B1 +20 more	GBenign/Likely benign
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +17 more	GConflicting classifications of pathogenicity
Select item 48066	NM_170707.4(LMNA):c.438C>T (p.Ala146=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA, LOC126805877 (E161K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 48071	NM_170707.4(LMNA):c.612G>A (p.Leu204=)	LMNA	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +17 more	GBenign/Likely benign
Select item 36480	NM_170707.4(LMNA):c.810+13G>T	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B1 +20 more	GBenign
Select item 48086	NM_170707.4(LMNA):c.811-13T>A	LMNA	Single nucleotide variant (intron variant)	not provided +15 more	GBenign/Likely benign
Select item 48088	NM_170707.4(LMNA):c.861T>C (p.Ala287=)	LMNA	Single nucleotide variant (synonymous variant)	Hutchinson-Gilford syndrome +16 more	GBenign
Select item 1328372	NM_170707.4(LMNA):c.937-5T>A	LMNA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 48098	NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	LMNA (R331Q +2 more)	Single nucleotide variant (missense variant)	LMNA-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 191702	NM_170707.4(LMNA):c.1017G>A (p.Ala339=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 66778	NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)	LMNA (R377L +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 36474	NM_170707.4(LMNA):c.1157+16G>A	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 48035	NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	LMNA (R401C +2 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 965914	NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)	LMNA (G300W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GUncertain significance
Select item 48037	NM_170707.4(LMNA):c.1338T>C (p.Asp446=)	LMNA	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +16 more	GBenign
Select item 916768	NM_170707.4(LMNA):c.1489-16C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +14 more	GBenign/Likely benign
Select item 199111	NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	LMNA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1A +17 more	GConflicting classifications of pathogenicity
Select item 48043	NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 48045	NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)	LMNA (G523R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 66854	NM_170707.4(LMNA):c.1608+5G>C	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GPathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal semi-dominant severe lipodystrophic laminopathy +24 more	GConflicting classifications of pathogenicity
Select item 48048	NM_170707.4(LMNA):c.1698C>T (p.His566=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Hutchinson-Gilford syndrome +16 more	GBenign
Select item 36477	NM_170707.4(LMNA):c.1761G>A (p.Leu587=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 476827	NM_170707.4(LMNA):c.1785C>T (p.Ala595=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 543199	NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)	LMNA (R597C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 161291	NM_170707.4(LMNA):c.1931G>A (p.Arg644His)	LMNA (R532H +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 66880	NM_170707.4(LMNA):c.1968+26A>G	LMNA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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Items: 28