"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CYP2E1" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 739459	NM_000773.4(CYP2E1):c.294G>A (p.Ser98=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789614	NM_000773.4(CYP2E1):c.612T>C (p.Asn204=)	CYP2E1, LOC126861107	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754066	NM_000773.4(CYP2E1):c.624C>T (p.His208=)	CYP2E1, LOC126861107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779939	NM_000773.4(CYP2E1):c.655A>G (p.Asn219Asp)	CYP2E1 (N219D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720819	NM_000773.4(CYP2E1):c.909C>A (p.Thr303=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784178	NM_000773.4(CYP2E1):c.1044C>G (p.Pro348=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735855	NM_000773.4(CYP2E1):c.1186G>C (p.Val396Leu)	CYP2E1 (V396L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768403	NM_000773.4(CYP2E1):c.1263C>T (p.Phe421=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784179	NM_000773.4(CYP2E1):c.1370A>T (p.His457Leu)	CYP2E1 (H457L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2427551	NC_000010.10:g.(?_134598420)_(135373622_?)dup	ADAM8, CALY +17 more	Duplication	not provided	GUncertain significance
Select item 1458937	NC_000010.10:g.(?_134598420)_(135373622_?)del	LINC01166, MTG1 +17 more	Deletion	not provided	GPathogenic
Select item 1456992	NC_000010.10:g.(?_134916201)_(135439108_?)del	ADAM8, ADGRA1 +15 more	Deletion	not provided	GPathogenic