ClinVar for MedGen (Select 1807897) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242201	NM_005562.3(LAMC2):c.3438A>C (p.Glu1146Asp)	LAMC2 (E1146D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 3B, severe	GUncertain significance
Select item 3239676	NM_005562.3(LAMC2):c.1468+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 3B, severe	GLikely pathogenic
Select item 3069199	NC_000001.10:g.(183205740_183206486)_(183207557_183208498)del	LAMC2	Deletion	Epidermolysis bullosa, junctional 3B, severe	GPathogenic
Select item 3065397	NM_005562.3(LAMC2):c.3452_3468del (p.Gln1151fs)	LAMC2 (Q1151fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 3B, severe	GLikely pathogenic
Select item 1687040	NM_005562.3(LAMC2):c.1335_1342dup (p.Gly448fs)	LAMC2 (G448fs)	Duplication (frameshift variant)	Epidermolysis bullosa, junctional 3B, severe	GPathogenic
Select item 1180731	NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter)	LAMC2 (L1122*)	Single nucleotide variant (nonsense)	Abnormality of the skin +2 more	GPathogenic/Likely pathogenic
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 1067977	NM_005562.3(LAMC2):c.640+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 874261	NM_005562.3(LAMC2):c.2777G>A (p.Arg926His)	LAMC2 (R926H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 370953	NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	LAMC2 (R1129*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GPathogenic/Likely pathogenic
Select item 14558	NM_005562.3(LAMC2):c.2137_2143del (p.Gln713fs)	LAMC2 (Q713fs)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 3B, severe	GPathogenic
Select item 14557	NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter)	LAMC2 (C553*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 14556	NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)	LAMC2 (Y355*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic/Likely pathogenic
Select item 14555	NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)	LAMC2 (R95*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 14554	NM_005562.3(LAMC2):c.1067-1G>A	LAMC2	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic