"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126805948" - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293973	NM_005562.2(LAMC2):c.-277G>A	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293974	NM_005562.2(LAMC2):c.-262T>C	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293975	NM_005562.2(LAMC2):c.-260C>A	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa +1 more	GBenign
Select item 293976	NM_005562.2(LAMC2):c.-256G>C	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
Select item 293977	NM_005562.2(LAMC2):c.-183G>A	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa +1 more	GBenign
Select item 293978	NM_005562.2(LAMC2):c.-140T>G	LAMC2, LOC126805948	Single nucleotide variant	Junctional epidermolysis bullosa	GUncertain significance
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 876940	NM_005562.3(LAMC2):c.-79G>A	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 293980	NM_005562.3(LAMC2):c.-39C>T	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 293981	NM_005562.3(LAMC2):c.-38C>G	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa +1 more	GBenign
Select item 293982	NM_005562.3(LAMC2):c.-15C>T	LAMC2, LOC126805948	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa gravis of Herlitz +1 more	GUncertain significance
Select item 293983	NM_005562.3(LAMC2):c.-6C>A	LOC126805948, LAMC2	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 293984	NM_005562.3(LAMC2):c.1A>G (p.Met1Val)	LAMC2, LOC126805948 (M1V)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 874155	NM_005562.3(LAMC2):c.48G>T (p.Leu16=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa +1 more	GConflicting classifications of pathogenicity
Select item 293985	NM_005562.3(LAMC2):c.69C>T (p.Ser23=)	LAMC2, LOC126805948	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity