ClinVar for MedGen (Select 1812940) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370436	NM_005562.3(LAMC2):c.1882C>T (p.Gln628Ter)	LAMC2 (Q628*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 3A, intermediate	GLikely pathogenic
Select item 3370435	NM_005562.3(LAMC2):c.1857+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 3A, intermediate	GLikely pathogenic
Select item 1067977	NM_005562.3(LAMC2):c.640+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa, junctional 3A, intermediate +3 more	GLikely pathogenic
Select item 874261	NM_005562.3(LAMC2):c.2777G>A (p.Arg926His)	LAMC2 (R926H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 841746	NM_005562.3(LAMC2):c.1711C>T (p.Arg571Ter)	LAMC2 (R571*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 14561	NM_005562.3(LAMC2):c.3394dup (p.Thr1132fs)	LAMC2 (T1132fs)	Duplication (frameshift variant)	Epidermolysis bullosa, junctional 3A, intermediate	GPathogenic
Select item 14560	NM_005562.3(LAMC2):c.405-1G>A	LAMC2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 14559	NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)	LAMC2 (R245*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic

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