"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2132605	NM_004385.5(VCAN):c.9653G>A (p.Arg3218His)	LOC126807443, VCAN +1 more (R3218H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040196	NM_004385.5(VCAN):c.9657G>A (p.Val3219=)	LOC126807443, VCAN +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1463252	NM_004385.5(VCAN):c.9662A>G (p.His3221Arg)	LOC126807443, VCAN +1 more (H1467R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523497	NM_004385.5(VCAN):c.9686A>G (p.Asn3229Ser)	LOC126807443, VCAN +1 more (N3229S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614511	NM_004385.5(VCAN):c.9687T>C (p.Asn3229=)	LOC126807443, VCAN +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967929	NM_004385.5(VCAN):c.9691A>G (p.Lys3231Glu)	LOC126807443, VCAN +1 more (K1477E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357791	NM_004385.5(VCAN):c.9701A>C (p.Glu3234Ala)	LOC126807443, VCAN +1 more (E1480A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047516	NM_004385.5(VCAN):c.9713G>A (p.Arg3238His)	LOC126807443, VCAN +1 more (R1484H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2810205	NM_004385.5(VCAN):c.9718del (p.Thr3240fs)	LOC126807443, VCAN +1 more (T1486fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1475252	NM_004385.5(VCAN):c.9727A>G (p.Ser3243Gly)	LOC126807443, VCAN +1 more (S2256G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955160	NM_004385.5(VCAN):c.9733C>A (p.Leu3245Met)	LOC126807443, VCAN +1 more (L1491M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance