"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1213 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1583232	NM_001286577.2(C2CD3):c.955+11A>G	C2CD3, LOC121392929	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1479972	NM_001286577.2(C2CD3):c.955+3A>G	C2CD3, LOC121392929	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1557303	NM_001286577.2(C2CD3):c.946C>G (p.Leu316Val)	C2CD3, LOC121392929 (L316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 598992	NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro)	C2CD3, LOC121392929 (L306P)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1421732	NM_001286577.2(C2CD3):c.869A>G (p.Gln290Arg)	C2CD3, LOC121392929 (Q290R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2899840	NM_001286577.2(C2CD3):c.850C>T (p.Leu284=)	C2CD3, LOC121392929	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923082	NM_001286577.2(C2CD3):c.847C>T (p.Leu283Phe)	C2CD3, LOC121392929 (L283F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714412	NM_001286577.2(C2CD3):c.840G>A (p.Gln280=)	C2CD3, LOC121392929	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371909	NM_001286577.2(C2CD3):c.832C>T (p.Arg278Trp)	C2CD3, LOC121392929 (R278W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1430504	NM_001286577.2(C2CD3):c.817A>G (p.Lys273Glu)	C2CD3, LOC121392929 (K273E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406880	NM_001286577.2(C2CD3):c.785A>T (p.Asn262Ile)	C2CD3, LOC121392929 (N262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2803526	NM_001286577.2(C2CD3):c.777C>T (p.His259=)	C2CD3, LOC121392929	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717302	NM_001286577.2(C2CD3):c.773A>T (p.Gln258Leu)	C2CD3, LOC121392929 (Q258L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855644	NM_001286577.2(C2CD3):c.764_765del (p.Phe255fs)	C2CD3, LOC121392929 (F255fs)	Deletion (frameshift variant)	not provided	GPathogenic