"Eurofins Ntd Llc (ga)"[submitter] AND "LAMC2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 290568	NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)	LAMC2 (R165C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 283044	NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val)	LAMC2 (I440V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 288733	NM_005562.3(LAMC2):c.1637_1651del (p.Ala546_Cys550del)	LAMC2	Deletion (inframe_deletion)	not provided	GUncertain significance
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 290573	NM_005562.3(LAMC2):c.2754+9T>C	LAMC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 195603	NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met)	LAMC2 (T1069M)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +2 more	GBenign/Likely benign