CYP2E1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
Select item 57266	GRCh38/hg38 10q26.3(chr10:133390058-133564028)x1	CYP2E1, LOC110599585 +16 more	Copy number loss	See cases	GBenign
Select item 157190	NC_000010.11:g.133403671_133556028dup	CYP2E1, LOC110599585 +11 more	Duplication	Normal pregnancy	Gnot provided
Select item 146782	GRCh38/hg38 10q26.3(chr10:133421259-133591046)x3	CYP2E1, LOC110599585 +11 more	Copy number gain	See cases	GBenign
Select item 146652	GRCh38/hg38 10q26.3(chr10:133421283-133558988)x1	CYP2E1, LOC110599585 +11 more	Copy number loss	See cases	GBenign
Select item 154345	GRCh38/hg38 10q26.3(chr10:133429127-133563886)x3	CYP2E1, LOC110599585 +9 more	Copy number gain	See cases	GBenign
Select item 154340	GRCh38/hg38 10q26.3(chr10:133429127-133563886)x1	CYP2E1, LOC110599585 +9 more	Copy number loss	See cases	GBenign
Select item 154333	GRCh38/hg38 10q26.3(chr10:133429127-133620609)x3	CYP2E1, LOC110599585 +9 more	Copy number gain	See cases	GBenign
Select item 146752	GRCh38/hg38 10q26.3(chr10:133429127-133591046)x3	CYP2E1, LOC110599585 +9 more	Copy number gain	See cases	GBenign
Select item 144594	GRCh38/hg38 10q26.3(chr10:133429127-133556327)x3	CYP2E1, LOC110599585 +9 more	Copy number gain	See cases	GBenign
Select item 144502	GRCh38/hg38 10q26.3(chr10:133429545-133564028)x3	CYP2E1, LOC110599585 +9 more	Copy number gain	See cases	GBenign
Select item 153033	GRCh38/hg38 10q26.3(chr10:133432242-133558988)x3	CYP2E1, LOC110599585 +9 more	Copy number gain	See cases	GBenign
Select item 144525	GRCh38/hg38 10q26.3(chr10:133432242-133564028)x1	CYP2E1, LOC110599585 +9 more	Copy number loss	See cases	GBenign
Select item 549628	NC_000010.11:g.133438823_133565257dup	CYP2E1, LOC110599585 +8 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549627	NC_000010.10:g.135252327_135378761del126435	CYP2E1, LOC110599585 +8 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 221841	GRCh38/hg38 10q26.3(chr10:133438843-133565298)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	Premature ovarian failure	GBenign
Select item 157191	NC_000010.11:g.133438843_133565298dup	CYP2E1, LOC110599585 +8 more	Duplication	Normal pregnancy +1 more	Gnot provided
Select item 161008	GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1	CYP2E1, LOC110599585 +8 more	Copy number loss	See cases	GBenign
Select item 160995	GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 147295	GRCh38/hg38 10q26.3(chr10:133440535-133620674)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 144326	GRCh38/hg38 10q26.3(chr10:133440535-133554218)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 144220	GRCh38/hg38 10q26.3(chr10:133440535-133591019)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 57392	GRCh38/hg38 10q26.3(chr10:133440535-133558988)x1	CYP2E1, LOC110599585 +8 more	Copy number loss	See cases	GBenign
Select item 57391	GRCh38/hg38 10q26.3(chr10:133440535-133558988)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 32439	GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1	CYP2E1, LOC110599585 +8 more	Copy number loss	See cases	GBenign
Select item 32088	GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 154750	GRCh38/hg38 10q26.3(chr10:133440549-133620609)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 150791	GRCh38/hg38 10q26.3(chr10:133440549-133563886)x1	CYP2E1, LOC110599585 +8 more	Copy number loss	See cases	GBenign
Select item 147252	GRCh38/hg38 10q26.3(chr10:133440563-133558959)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 221737	GRCh38/hg38 10q26.3(chr10:133443259-133566207)x1	LOC130005035, LOC130005036 +8 more	Copy number loss	Premature ovarian failure	GLikely pathogenic
Select item 144577	GRCh38/hg38 10q26.3(chr10:133445115-133536219)x1	CYP2E1, LOC110599585 +7 more	Copy number loss	See cases	GBenign
Select item 147217	GRCh38/hg38 10q26.3(chr10:133445172-133563998)x3	CYP2E1, LOC110599585 +8 more	Copy number gain	See cases	GBenign
Select item 147977	GRCh38/hg38 10q26.3(chr10:133453852-133539242)x3	CYP2E1, LOC110599585 +5 more	Copy number gain	See cases	GBenign
Select item 145503	GRCh38/hg38 10q26.3(chr10:133456761-133563886)x1	CYP2E1, LOC110599585 +6 more	Copy number loss	See cases	GBenign
Select item 145502	GRCh38/hg38 10q26.3(chr10:133456761-133563886)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 154337	GRCh38/hg38 10q26.3(chr10:133461400-133563886)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 149724	GRCh38/hg38 10q26.3(chr10:133461400-133620609)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 144683	GRCh38/hg38 10q26.3(chr10:133461400-133556327)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 144657	GRCh38/hg38 10q26.3(chr10:133461400-133563886)x1	CYP2E1, LOC110599585 +6 more	Copy number loss	See cases	GBenign
Select item 153034	GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 152996	GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 148147	GRCh38/hg38 10q26.3(chr10:133465763-133564028)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 144445	GRCh38/hg38 10q26.3(chr10:133465763-133556331)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 549631	NC_000010.11:g.133468178_133591019dup	CYP2E1, LOC110599585 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549630	NC_000010.11:g.133468178_133565257dup	CYP2E1, LOC110599585 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549629	NC_000010.11:g.133468178_133564028dup	CYP2E1, LOC110599585 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 154356	GRCh38/hg38 10q26.3(chr10:133468195-133563886)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 144637	GRCh38/hg38 10q26.3(chr10:133468195-133556327)x3	CYP2E1, LOC110599585 +6 more	Copy number gain	See cases	GBenign
Select item 144541	GRCh38/hg38 10q26.3(chr10:133481635-133559017)x3	CYP2E1, LOC110599585 +5 more	Copy number gain	See cases	GBenign
Select item 154891	GRCh38/hg38 10q26.3(chr10:133482243-133620609)x3	CYP2E1, LOC110599585 +5 more	Copy number gain	See cases	GBenign
Select item 146733	GRCh38/hg38 10q26.3(chr10:133482243-133563886)x3	CYP2E1, LOC110599585 +5 more	Copy number gain	See cases	GBenign
Select item 144146	GRCh38/hg38 10q26.3(chr10:133503306-133620674)x3	CYP2E1, LOC110599585 +3 more	Copy number gain	See cases	GBenign
Select item 57305	GRCh38/hg38 10q26.3(chr10:133503306-133591019)x3	CYP2E1, LOC110599585 +3 more	Copy number gain	See cases	GBenign
Select item 154874	GRCh38/hg38 10q26.3(chr10:133510330-133532350)x1	CYP2E1, LOC110599585 +2 more	Copy number loss	See cases	GBenign
Select item 154963	GRCh38/hg38 10q26.3(chr10:133524652-133540830)x3	CYP2E1, LOC110599585 +1 more	Copy number gain	See cases	GBenign
Select item 132775	NM_000773.3(CYP2E1):c.-1295G>C	CYP2E1, LOC110599585	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 16887	CYP2E1*5B	CYP2E1, LOC110599585	Single nucleotide variant	CYP2E1*5B ALLELE	Gother
Select item 132776	NM_000773.3(CYP2E1):c.-1055C>T	CYP2E1, LOC110599585	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2407917	NM_000773.4(CYP2E1):c.49C>T (p.Leu17Phe)	CYP2E1, LOC110599585 (L17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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