LAMC2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2920361	NM_005562.3(LAMC2):c.80-18T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914684	NM_005562.3(LAMC2):c.80-16T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549797	NM_005562.3(LAMC2):c.80-9C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855216	NM_005562.3(LAMC2):c.80-8C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654099	NM_005562.3(LAMC2):c.80-7T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293986	NM_005562.3(LAMC2):c.80-6C>T	LAMC2	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 1944421	NM_005562.3(LAMC2):c.80-5C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1079691	NM_005562.3(LAMC2):c.80-4C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 844928	NM_005562.3(LAMC2):c.80-2A>C	LAMC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 371173	NM_005562.3(LAMC2):c.80-2A>G	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GLikely pathogenic
Select item 874156	NM_005562.3(LAMC2):c.80T>C (p.Val27Ala)	LAMC2 (V27A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 1092271	NM_005562.3(LAMC2):c.81C>A (p.Val27=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111941	NM_005562.3(LAMC2):c.87T>C (p.Asp29=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733216	NM_005562.3(LAMC2):c.92A>G (p.Asn31Ser)	LAMC2 (N31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084229	NM_005562.3(LAMC2):c.96G>A (p.Gly32=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123729	NM_005562.3(LAMC2):c.114C>A (p.Ile38=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115033	NM_005562.3(LAMC2):c.123G>A (p.Arg41=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813752	NM_005562.3(LAMC2):c.126A>G (p.Glu42=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 370838	NM_005562.3(LAMC2):c.134_137del (p.Arg45fs)	LAMC2 (R45fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2372509	NM_005562.3(LAMC2):c.133A>G (p.Arg45Gly)	LAMC2 (R45G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1083012	NM_005562.3(LAMC2):c.135A>G (p.Arg45=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074699	NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter)	LAMC2 (Q46*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 3B, severe +1 more	GPathogenic
Select item 371541	NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)	LAMC2 (F51fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic/Likely pathogenic
Select item 2693445	NM_005562.3(LAMC2):c.147T>C (p.Asn49=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315170	NM_005562.3(LAMC2):c.169A>G (p.Asn57Asp)	LAMC2 (N57D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1673292	NM_005562.3(LAMC2):c.171T>C (p.Asn57=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1726932	NM_005562.3(LAMC2):c.176del (p.Asn59fs)	LAMC2 (N59fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 558714	NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)	LAMC2 (D61*)	Duplication (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1626887	NM_005562.3(LAMC2):c.180T>C (p.Thr60=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2584967	NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter)	LAMC2 (C65*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
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 1999237	NM_005562.3(LAMC2):c.201G>A (p.Lys67=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984224	NM_005562.3(LAMC2):c.219C>A (p.Tyr73Ter)	LAMC2 (Y73*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1143702	NM_005562.3(LAMC2):c.222G>A (p.Arg74=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138188	NM_005562.3(LAMC2):c.222G>T (p.Arg74=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557375	NM_005562.3(LAMC2):c.232A>G (p.Arg78Gly)	LAMC2 (R78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2839520	NM_005562.3(LAMC2):c.249C>T (p.Pro83=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1726223	NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)	LAMC2 (C84*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2245728	NM_005562.3(LAMC2):c.254A>G (p.Asn85Ser)	LAMC2 (N85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762684	NM_005562.3(LAMC2):c.255T>C (p.Asn85=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365433	NM_005562.3(LAMC2):c.258dup (p.Asn87Ter)	LAMC2 (N87*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2863387	NM_005562.3(LAMC2):c.264C>A (p.Ser88=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 370158	NM_005562.3(LAMC2):c.268+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1547273	NM_005562.3(LAMC2):c.268+9A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663372	NM_005562.3(LAMC2):c.268+10A>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259785	NM_005562.3(LAMC2):c.268+14A>G	LAMC2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 2738142	NM_005562.3(LAMC2):c.268+16G>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3015158	NM_005562.3(LAMC2):c.269-20C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888217	NM_005562.3(LAMC2):c.269-17T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2870436	NM_005562.3(LAMC2):c.269-11G>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034909	NM_005562.3(LAMC2):c.269-1G>T	LAMC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1531470	NM_005562.3(LAMC2):c.273T>G (p.Ser91=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102103	NM_005562.3(LAMC2):c.273T>C (p.Ser91=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14555	NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)	LAMC2 (R95*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic
Select item 984225	NM_005562.3(LAMC2):c.288T>A (p.Cys96Ter)	LAMC2 (C96*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 2102474	NM_005562.3(LAMC2):c.291C>T (p.Asp97=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1970738	NM_005562.3(LAMC2):c.301C>A (p.Arg101=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 550884	NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp)	LAMC2 (R101W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 2361824	NM_005562.3(LAMC2):c.302G>A (p.Arg101Gln)	LAMC2 (R101Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2708323	NM_005562.3(LAMC2):c.303G>C (p.Arg101=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284642	NM_005562.3(LAMC2):c.311G>A (p.Cys104Tyr)	LAMC2 (C104Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1028397	NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter)	LAMC2 (R115*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GPathogenic
Select item 293989	NM_005562.3(LAMC2):c.344G>A (p.Arg115Gln)	LAMC2 (R115Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 755509	NM_005562.3(LAMC2):c.363C>T (p.His121=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1157723	NM_005562.3(LAMC2):c.369C>T (p.Leu123=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3117711	NM_005562.3(LAMC2):c.377C>T (p.Ala126Val)	LAMC2 (A126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048069	NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp)	LAMC2 (G127W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa	GPathogenic
Select item 2120792	NM_005562.3(LAMC2):c.381G>A (p.Gly127=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990145	NM_005562.3(LAMC2):c.384C>T (p.Cys128=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984226	NM_005562.3(LAMC2):c.388C>T (p.Gln130Ter)	LAMC2 (Q130*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1973160	NM_005562.3(LAMC2):c.395A>G (p.Gln132Arg)	LAMC2 (Q132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310809	NM_005562.3(LAMC2):c.400C>G (p.Leu134Val)	LAMC2 (L134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1127356	NM_005562.3(LAMC2):c.400C>T (p.Leu134=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814068	NM_005562.3(LAMC2):c.402G>C (p.Leu134=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048070	NM_005562.3(LAMC2):c.404+3_404+6del	LAMC2	Deletion (splice donor variant)	Junctional epidermolysis bullosa	GPathogenic
Select item 2801336	NM_005562.3(LAMC2):c.404+20del	LAMC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2908870	NM_005562.3(LAMC2):c.404+20C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2831621	NM_005562.3(LAMC2):c.405-19T>G	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840745	NM_005562.3(LAMC2):c.405-11T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661117	NM_005562.3(LAMC2):c.405-7T>C	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157836	NM_005562.3(LAMC2):c.405-6C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864478	NM_005562.3(LAMC2):c.405-5C>T	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693183	NM_005562.3(LAMC2):c.405-4C>A	LAMC2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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