"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 32

	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 2 +20 more	GBenign/Likely benign
Select item 1284262	NM_170707.4(LMNA):c.357-3717A>G	LMNA (K33R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +16 more	GConflicting classifications of pathogenicity
Select item 48066	NM_170707.4(LMNA):c.438C>T (p.Ala146=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 200936	NM_170707.4(LMNA):c.471G>A (p.Thr157=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +14 more	GConflicting classifications of pathogenicity
Select item 66908	NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	LMNA (R190W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GPathogenic
Select item 14483	NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	LMNA (N195K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 48071	NM_170707.4(LMNA):c.612G>A (p.Leu204=)	LMNA	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +17 more	GBenign/Likely benign
Select item 48082	NM_170707.4(LMNA):c.789G>A (p.Leu263=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36480	NM_170707.4(LMNA):c.810+13G>T	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +20 more	GBenign
Select item 48086	NM_170707.4(LMNA):c.811-13T>A	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +15 more	GBenign/Likely benign
Select item 48088	NM_170707.4(LMNA):c.861T>C (p.Ala287=)	LMNA	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +16 more	GBenign
Select item 697867	NM_170707.4(LMNA):c.885G>A (p.Ser295=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 48093	NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	LMNA (E317K +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +7 more	GPathogenic/Likely pathogenic
Select item 993352	NM_170707.4(LMNA):c.964G>A (p.Asp322Asn)	LMNA (D210N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48097	NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	LMNA (S326T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GConflicting classifications of pathogenicity
Select item 66774	NM_170707.4(LMNA):c.1098G>A (p.Lys366=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36474	NM_170707.4(LMNA):c.1157+16G>A	LMNA	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 379044	NM_170707.4(LMNA):c.1157+19G>A	LMNA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +14 more	GLikely benign
Select item 66786	NM_170707.4(LMNA):c.1158-44C>T	LMNA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 262793	NM_170707.4(LMNA):c.1158-43A>G	LMNA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 994013	NM_170707.4(LMNA):c.1212T>C (p.Ser404=)	LMNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48037	NM_170707.4(LMNA):c.1338T>C (p.Asp446=)	LMNA	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +16 more	GBenign
Select item 178062	NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)	LMNA (N459S +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 516446	NM_170707.4(LMNA):c.1381-13A>G	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +16 more	GBenign/Likely benign
Select item 36476	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA (R471H +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 14486	NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	LMNA (R482Q +2 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 48047	NM_170707.4(LMNA):c.1656C>T (p.Asp552=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +5 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)	Charcot-Marie-Tooth disease type 2 +16 more	GBenign
Select item 48056	NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)	LMNA (G608R +6 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 14527	NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	LMNA (R644C +6 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +18 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: 32