CYP2E1[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079540	NM_000773.4(CYP2E1):c.127G>A (p.Gly43Arg)	CYP2E1 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312029	NM_000773.4(CYP2E1):c.136T>C (p.Phe46Leu)	CYP2E1 (F46L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079542	NM_000773.4(CYP2E1):c.155A>G (p.Asn52Ser)	CYP2E1 (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462970	NM_000773.4(CYP2E1):c.187C>G (p.Arg63Gly)	CYP2E1 (R63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398354	NM_000773.4(CYP2E1):c.232G>A (p.Val78Met)	CYP2E1 (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739459	NM_000773.4(CYP2E1):c.294G>A (p.Ser98=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212683	NM_000773.4(CYP2E1):c.310C>T (p.Pro104Ser)	CYP2E1 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389724	NM_000773.4(CYP2E1):c.311C>T (p.Pro104Leu)	CYP2E1 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2611617	NM_000773.4(CYP2E1):c.727A>G (p.Lys243Glu)	CYP2E1 (K243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079543	NM_000773.4(CYP2E1):c.734A>G (p.Tyr245Cys)	CYP2E1 (Y245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366621	NM_000773.4(CYP2E1):c.779A>G (p.Asn260Ser)	CYP2E1 (N260S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270590	NM_000773.4(CYP2E1):c.781T>G (p.Cys261Gly)	CYP2E1 (C261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455868	NM_000773.4(CYP2E1):c.788G>A (p.Arg263Gln)	CYP2E1 (R263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410158	NM_000773.4(CYP2E1):c.845G>A (p.Arg282His)	CYP2E1 (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370767	NM_000773.4(CYP2E1):c.871G>A (p.Val291Met)	CYP2E1 (V291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720819	NM_000773.4(CYP2E1):c.909C>A (p.Thr303=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 402581	NM_000773.4(CYP2E1):c.963= (p.Ile321=)	CYP2E1	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 16888	NM_000773.3(CYP2E1):c.967+1143T>A	CYP2E1	Single nucleotide variant (intron variant)	CYP2E1*6 ALLELE	Gassociation
Select item 784178	NM_000773.4(CYP2E1):c.1044C>G (p.Pro348=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270592	NM_000773.4(CYP2E1):c.1048A>G (p.Met350Val)	CYP2E1 (M350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273308	NM_000773.4(CYP2E1):c.1049T>G (p.Met350Arg)	CYP2E1 (M350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266606	NM_000773.4(CYP2E1):c.1055C>G (p.Ala352Gly)	CYP2E1 (A352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 402582	NM_000773.4(CYP2E1):c.1263= (p.Phe421=)	CYP2E1	Single nucleotide variant (no sequence alteration)	not specified +1 more	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 3079541	NM_000773.4(CYP2E1):c.1451G>A (p.Arg484His)	CYP2E1 (R484H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 563701	GRCh37/hg19 10q26.3(chr10:135252346-135354972)x1	CYP2E1	Copy number loss	not provided	GUncertain significance

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Items: 29