"Genome-Nilou Lab"[submitter] AND "LAMC2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 293983	NM_005562.3(LAMC2):c.-6C>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 259785	NM_005562.3(LAMC2):c.268+14A>G	LAMC2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
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 293990	NM_005562.3(LAMC2):c.371C>T (p.Thr124Met)	LAMC2 (T124M)	Single nucleotide variant (missense variant)	not provided +3 more	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 1180479	NM_005562.3(LAMC2):c.641-80C>T	LAMC2	Single nucleotide variant (intron variant)	not provided +2 more	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 1199379	NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly)	LAMC2 (D272G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 290574	NM_005562.3(LAMC2):c.880C>T (p.Leu294=)	LAMC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 290575	NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)	LAMC2 (T297A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GConflicting classifications of pathogenicity
Select item 294005	NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp)	LAMC2 (A546D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287517	NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)	LAMC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1199378	NM_005562.3(LAMC2):c.2278G>A (p.Glu760Lys)	LAMC2 (E760K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GUncertain significance
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 294025	NM_005562.3(LAMC2):c.*13T>G	LAMC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign