"GeneDx"[submitter] AND "LAMC2"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 293975	NM_005562.2(LAMC2):c.-260C>A	LAMC2, LOC126805948	Single nucleotide variant	not provided +1 more	GBenign
Select item 293977	NM_005562.2(LAMC2):c.-183G>A	LAMC2, LOC126805948	Single nucleotide variant	not provided +1 more	GBenign
Select item 293979	NM_005562.3(LAMC2):c.-89A>G	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +3 more	GBenign
Select item 293981	NM_005562.3(LAMC2):c.-38C>G	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +1 more	GBenign
Select item 293983	NM_005562.3(LAMC2):c.-6C>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 488888	NM_005562.3(LAMC2):c.2T>C (p.Met1Thr)	LAMC2, LOC126805948 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2081545	NM_005562.3(LAMC2):c.78A>G (p.Glu26=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1250223	NM_005562.3(LAMC2):c.79+134C>A	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178172	NM_005562.3(LAMC2):c.79+150del	LAMC2, LOC126805948	Deletion (intron variant)	not provided	GBenign
Select item 1253775	NM_005562.3(LAMC2):c.79+151C>A	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249203	NM_005562.3(LAMC2):c.79+212A>C	LAMC2, LOC126805948	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246259	NM_005562.3(LAMC2):c.80-33_80-31dup	LAMC2	Duplication (intron variant)	not provided	GBenign
Select item 1229395	NM_005562.3(LAMC2):c.80-32_80-31dup	LAMC2	Duplication (intron variant)	not provided	GBenign
Select item 1224645	NM_005562.3(LAMC2):c.80-31dup	LAMC2	Duplication (intron variant)	not provided	GBenign
Select item 1283530	NM_005562.3(LAMC2):c.80-31del	LAMC2	Deletion (intron variant)	not provided	GBenign
Select item 3363824	NM_005562.3(LAMC2):c.185G>A (p.Gly62Asp)	LAMC2 (G62D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195246	NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)	LAMC2 (E66K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GConflicting classifications of pathogenicity
Select item 259785	NM_005562.3(LAMC2):c.268+14A>G	LAMC2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1276150	NM_005562.3(LAMC2):c.268+39G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283943	NM_005562.3(LAMC2):c.268+53A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261471	NM_005562.3(LAMC2):c.268+250T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287887	NM_005562.3(LAMC2):c.269-160C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245200	NM_005562.3(LAMC2):c.269-64C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 293987	NM_005562.3(LAMC2):c.269-15C>T	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa +1 more	GBenign/Likely benign
Select item 259787	NM_005562.3(LAMC2):c.297C>T (p.Ser99=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 293988	NM_005562.3(LAMC2):c.331G>C (p.Ala111Pro)	LAMC2 (A111P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 293990	NM_005562.3(LAMC2):c.371C>T (p.Thr124Met)	LAMC2 (T124M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1227354	NM_005562.3(LAMC2):c.404+125T>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281457	NM_005562.3(LAMC2):c.404+237C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180478	NM_005562.3(LAMC2):c.405-31T>C	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GBenign
Select item 259789	NM_005562.3(LAMC2):c.483C>T (p.Val161=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1231435	NM_005562.3(LAMC2):c.641-295_641-294insG	LAMC2	Insertion (intron variant)	not provided	GBenign
Select item 1180479	NM_005562.3(LAMC2):c.641-80C>T	LAMC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 293997	NM_005562.3(LAMC2):c.741C>A (p.Asp247Glu)	LAMC2 (D247E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1222826	NM_005562.3(LAMC2):c.763+303C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259790	NM_005562.3(LAMC2):c.798T>G (p.Gly266=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1434895	NM_005562.3(LAMC2):c.847T>C (p.Ser283Pro)	LAMC2 (S283P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268335	NM_005562.3(LAMC2):c.953+37A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277223	NM_005562.3(LAMC2):c.954-124A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 294001	NM_005562.3(LAMC2):c.1066+12C>A	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa +1 more	GBenign
Select item 1262525	NM_005562.3(LAMC2):c.1066+226G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278496	NM_005562.3(LAMC2):c.1285+166C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256706	NM_005562.3(LAMC2):c.1285+182C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269720	NM_005562.3(LAMC2):c.1286-283C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1074497	NM_005562.3(LAMC2):c.1350C>A (p.Tyr450Ter)	LAMC2 (Y450*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1250582	NM_005562.3(LAMC2):c.1468+219C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183132	NM_005562.3(LAMC2):c.1469-204A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265037	NM_005562.3(LAMC2):c.1714+74G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240679	NM_005562.3(LAMC2):c.1714+259C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259784	NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr)	LAMC2 (S733T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1274149	NM_005562.3(LAMC2):c.2301-233G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817622	NM_005562.3(LAMC2):c.2419_2438delinsG (p.Ser807fs)	LAMC2 (S807fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1283178	NM_005562.3(LAMC2):c.2456+139G>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278594	NM_005562.3(LAMC2):c.2457-115C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278088	NM_005562.3(LAMC2):c.2457-55_2457-54del	LAMC2	Deletion (intron variant)	not provided	GBenign
Select item 1235485	NM_005562.3(LAMC2):c.2457-54del	LAMC2	Deletion (intron variant)	not provided	GBenign
Select item 259786	NM_005562.3(LAMC2):c.2688G>A (p.Gln896=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1230292	NM_005562.3(LAMC2):c.2755-336C>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451507	NM_005562.3(LAMC2):c.2967G>C (p.Lys989Asn)	LAMC2 (K989N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183236	NM_005562.3(LAMC2):c.3069+144T>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233053	NM_005562.3(LAMC2):c.3069+147T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327798	NM_005562.3(LAMC2):c.3070-157A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236565	NM_005562.3(LAMC2):c.3070-96C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179728	NM_005562.3(LAMC2):c.3070-89C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249215	NM_005562.3(LAMC2):c.3328+107A>G	LAMC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276996	NM_005562.3(LAMC2):c.3329-111C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259788	NM_005562.3(LAMC2):c.3367C>T (p.Leu1123=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 620535	NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)	LAMC2 (Q1152*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic/Likely pathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 70