ClinVar for Gene (Select 1571) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 211

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 3079542	NM_000773.4(CYP2E1):c.155A>G (p.Asn52Ser)	CYP2E1 (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3079540	NM_000773.4(CYP2E1):c.127G>A (p.Gly43Arg)	CYP2E1 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3024575	GRCh37/hg19 10q26.3(chr10:135193503-135412582)x1	CYP2E1, MTG1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	CYP2E1, MTG1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2672426	GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3	ADAM8, CALY +11 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2473692	NM_000773.4(CYP2E1):c.461T>G (p.Leu154Arg)	CYP2E1, LOC126861107 (L154R)	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 2455868	NM_000773.4(CYP2E1):c.788G>A (p.Arg263Gln)	CYP2E1 (R263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427551	NC_000010.10:g.(?_134598420)_(135373622_?)dup	ADAM8, ZNF511 +17 more	Duplication	not provided	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 2407917	NM_000773.4(CYP2E1):c.49C>T (p.Leu17Phe)	CYP2E1, LOC110599585 (L17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400657	NM_000773.4(CYP2E1):c.493C>G (p.Pro165Ala)	CYP2E1, LOC126861107 (P165A)	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 2389724	NM_000773.4(CYP2E1):c.311C>T (p.Pro104Leu)	CYP2E1 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379277	NM_000773.4(CYP2E1):c.637C>T (p.Pro213Ser)	CYP2E1, LOC126861107 (P213S)	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 2366621	NM_000773.4(CYP2E1):c.779A>G (p.Asn260Ser)	CYP2E1 (N260S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2212683	NM_000773.4(CYP2E1):c.310C>T (p.Pro104Ser)	CYP2E1 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1458937	NC_000010.10:g.(?_134598420)_(135373622_?)del	ADAM8, ADGRA1 +17 more	Deletion	not provided	GPathogenic
Select item 1456992	NC_000010.10:g.(?_134916201)_(135439108_?)del	ADAM8, ADGRA1 +15 more	Deletion	not provided	GPathogenic
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	TCERG1L, TCERG1L-AS1 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979913	GRCh37/hg19 10q26.3(chr10:135204187-135408132)x3	CYP2E1, MTG1 +3 more	Copy number gain	not provided	GLikely benign
Select item 979912	GRCh37/hg19 10q26.3(chr10:135165733-135427143)x3	MTG1, SPRN +6 more	Copy number gain	not provided	GLikely benign
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815385	GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	DPYSL4, INPP5A +37 more	Copy number loss	not provided	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 789614	NM_000773.4(CYP2E1):c.612T>C (p.Asn204=)	CYP2E1, LOC126861107	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 784178	NM_000773.4(CYP2E1):c.1044C>G (p.Pro348=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 768403	NM_000773.4(CYP2E1):c.1263C>T (p.Phe421=)	CYP2E1	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 739459	NM_000773.4(CYP2E1):c.294G>A (p.Ser98=)	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 720819	NM_000773.4(CYP2E1):c.909C>A (p.Thr303=)	CYP2E1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687815	GRCh37/hg19 10q26.3(chr10:135111843-135427143)x1	CALY, CYP2E1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687341	GRCh37/hg19 10q26.3(chr10:135079677-135427143)x4	ADAM8, CALY +10 more	Copy number gain	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 686395	GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1	CYP2E1, ECHS1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563794	GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	TCERG1L, LINC01166 +46 more	Copy number loss	not provided	GPathogenic
Select item 563785	GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1	CFAP46, ECHS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563701	GRCh37/hg19 10q26.3(chr10:135252346-135354972)x1	CYP2E1	Copy number loss	not provided	GUncertain significance
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 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 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443740	GRCh37/hg19 10q26.3(chr10:135345340-135427143)x1	CYP2E1, SYCE1	Copy number loss	See cases	GUncertain significance
Select item 443505	GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	ADAM8, ADGRA1 +37 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443108	GRCh37/hg19 10q26.3(chr10:134593406-135427143)x1	ADAM8, ADGRA1 +18 more	Copy number loss	See cases	GUncertain significance
Select item 442903	GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1	ADAM12, ADAM8 +41 more	Copy number loss	See cases	GPathogenic
Select item 442485	GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1	ADAM8, ADGRA1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 442275	GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3	ADAM8, ADGRA1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 442210	GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1	ADAM8, ADGRA1 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 3