Related gene-specific medical variations for Gene (Select 1571) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473692	NM_000773.4(CYP2E1):c.461T>G (p.Leu154Arg)	CYP2E1, LOC126861107 (L154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407917	NM_000773.4(CYP2E1):c.49C>T (p.Leu17Phe)	CYP2E1, LOC110599585 (L17F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400657	NM_000773.4(CYP2E1):c.493C>G (p.Pro165Ala)	CYP2E1, LOC126861107 (P165A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379277	NM_000773.4(CYP2E1):c.637C>T (p.Pro213Ser)	CYP2E1, LOC126861107 (P213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 563701	GRCh37/hg19 10q26.3(chr10:135252346-135354972)x1	CYP2E1	Copy number loss	not provided	GUncertain significance

ClinVar