"PreventionGenetics, part of Exact Sciences"[submitter] AND "LMNA"[gen - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2567287	NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)	LMNA, LOC129931597 (R11C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +20 more	GBenign/Likely benign
Select item 3036310	NM_170707.4(LMNA):c.357-3720C>T	LMNA (A32V)	Single nucleotide variant (missense variant +2 more)	LMNA-related disorder	GUncertain significance
Select item 1142681	NM_170707.4(LMNA):c.357-8T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	LMNA-related disorder +3 more	GLikely benign
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 +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)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 3031413	NM_170707.4(LMNA):c.513+36C>T	LMNA, LOC126805877	Single nucleotide variant (intron variant)	LMNA-related disorder	GLikely benign
Select item 66908	NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	LMNA (R190W +2 more)	Single nucleotide variant (missense variant)	LMNA-related disorder +4 more	GPathogenic
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 2633365	NM_170707.4(LMNA):c.631T>G (p.Tyr211Asp)	LMNA (Y112D +4 more)	Single nucleotide variant (missense variant +1 more)	LMNA-related disorder	GUncertain significance
Select item 595906	NM_170707.4(LMNA):c.640-52C>T	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 48082	NM_170707.4(LMNA):c.789G>A (p.Leu263=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +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 +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 995175	NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)	LMNA (A166T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 48088	NM_170707.4(LMNA):c.861T>C (p.Ala287=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +16 more	GBenign
Select item 493053	NM_170707.4(LMNA):c.867C>T (p.His289=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 2634508	NM_170707.4(LMNA):c.936+4A>G	LMNA	Single nucleotide variant (intron variant)	LMNA-related disorder	GUncertain significance
Select item 262796	NM_170707.4(LMNA):c.936+47C>T	LMNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3034505	NM_170707.4(LMNA):c.936+49G>C	LMNA	Single nucleotide variant (intron variant)	LMNA-related disorder	GLikely benign
Select item 705149	NM_170707.4(LMNA):c.937-6C>T	LMNA	Single nucleotide variant (intron variant)	LMNA-related disorder +2 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 +8 more	GPathogenic/Likely pathogenic
Select item 700108	NM_170707.4(LMNA):c.951G>A (p.Glu317=)	LMNA	Single nucleotide variant (synonymous variant)	LMNA-related disorder +1 more	GLikely benign
Select item 1593191	NM_170707.4(LMNA):c.967C>T (p.Leu323=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 36473	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA (R335W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +20 more	GPathogenic/Likely pathogenic
Select item 191702	NM_170707.4(LMNA):c.1017G>A (p.Ala339=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
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 66786	NM_170707.4(LMNA):c.1158-44C>T	LMNA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 200943	NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)	LMNA (R427C +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +17 more	GUncertain significance
Select item 66804	NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)	LMNA (R439C +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +6 more	GConflicting classifications of pathogenicity
Select item 48037	NM_170707.4(LMNA):c.1338T>C (p.Asp446=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +16 more	GBenign
Select item 262794	NM_170707.4(LMNA):c.1380+37C>T	LMNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 14489	NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	LMNA (R482W +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 3, autosomal recessive +16 more	GPathogenic
Select item 14486	NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	LMNA (R482Q +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +17 more	GConflicting classifications of pathogenicity
Select item 262795	NM_170707.4(LMNA):c.1488+33G>T	LMNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 66834	NM_170707.4(LMNA):c.1489-41C>T	LMNA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 66856	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GPathogenic/Likely pathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +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)	not provided +16 more	GBenign
Select item 449051	NM_170707.4(LMNA):c.1698+1G>C	LMNA (V567L +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 200963	NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)	LMNA (R490S +1 more)	Indel (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 795257	NM_170707.4(LMNA):c.1699-4C>T	LMNA	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign
Select item 14494	NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	LMNA (R582H +2 more)	Single nucleotide variant (missense variant)	LMNA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 36477	NM_170707.4(LMNA):c.1761G>A (p.Leu587=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 227505	NM_170707.4(LMNA):c.1770C>T (p.Thr590=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 48052	NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)	LMNA (G572S +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 48053	NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)	LMNA (G579R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +16 more	GUncertain significance
Select item 378090	NM_170707.4(LMNA):c.1857T>C (p.Ser619=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +17 more	GLikely benign
Select item 48055	NM_170707.4(LMNA):c.1911C>T (p.Phe637=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
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 +4 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)	Monogenic diabetes +18 more	GConflicting classifications of pathogenicity
Select item 749662	NM_170707.4(LMNA):c.1941C>T (p.Leu647=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GLikely benign

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Items: 53