PAOX[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 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	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 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
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 144988	GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	ADAM8, CALY +40 more	Copy number loss	See cases	GBenign
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
Select item 2558688	NM_152911.4(PAOX):c.74G>T (p.Gly25Val)	LOC130005026, PAOX (G25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524799	NM_152911.4(PAOX):c.100G>T (p.Gly34Cys)	LOC130005026, PAOX (G34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333779	NM_152911.4(PAOX):c.128T>C (p.Val43Ala)	LOC130005026, PAOX (V43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521319	NM_152911.4(PAOX):c.163C>T (p.Arg55Cys)	LOC130005026, PAOX (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356722	NM_152911.4(PAOX):c.164G>A (p.Arg55His)	LOC130005026, PAOX (R55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208387	NM_152911.4(PAOX):c.187G>A (p.Val63Met)	PAOX (V63M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208388	NM_152911.4(PAOX):c.227G>T (p.Arg76Leu)	PAOX (R76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641030	NM_152911.4(PAOX):c.282G>A (p.Glu94=)	PAOX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3304210	NM_152911.4(PAOX):c.337G>A (p.Val113Met)	PAOX (V113M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208389	NM_152911.4(PAOX):c.346G>T (p.Ala116Ser)	PAOX (A116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457032	NM_152911.4(PAOX):c.383C>T (p.Ala128Val)	PAOX (A128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549676	NM_152911.4(PAOX):c.392C>G (p.Ala131Gly)	PAOX (A131G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278863	NM_152911.4(PAOX):c.406G>A (p.Gly136Ser)	PAOX (G136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304211	NM_152911.4(PAOX):c.447G>T (p.Glu149Asp)	PAOX (E149D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319186	NM_152911.4(PAOX):c.670G>A (p.Gly224Ser)	PAOX (G224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507502	NM_152911.4(PAOX):c.806C>T (p.Ser269Leu)	PAOX (S269L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208391	NM_152911.4(PAOX):c.812A>G (p.Glu271Gly)	PAOX (E271G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208392	NM_152911.4(PAOX):c.863C>T (p.Pro288Leu)	PAOX (P288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543520	NM_152911.4(PAOX):c.874C>A (p.Leu292Ile)	PAOX (L292I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542248	NM_152911.4(PAOX):c.987G>T (p.Glu329Asp)	PAOX (E329D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2363345	NM_152911.4(PAOX):c.1008C>G (p.Cys336Trp)	PAOX (C336W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465627	NM_152911.4(PAOX):c.1010A>G (p.Gln337Arg)	PAOX (Q337R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298132	NM_152911.4(PAOX):c.1071G>C (p.Gln357His)	PAOX (Q357H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208380	NM_152911.4(PAOX):c.1094T>C (p.Ile365Thr)	PAOX (I365T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530184	NM_152911.4(PAOX):c.1142G>A (p.Gly381Glu)	LOC124416936, PAOX (G297S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603591	NM_152911.4(PAOX):c.1152C>T (p.Ala384=)	PAOX, LOC124416936 (P300L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3208381	NM_152911.4(PAOX):c.1172T>C (p.Met391Thr)	LOC124416936, PAOX (M391T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208382	NM_152911.4(PAOX):c.1200T>C (p.Leu400=)	LOC124416936, PAOX (F316S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2235793	NM_152911.4(PAOX):c.1222C>T (p.Arg408Trp)	LOC124416936, PAOX (R408W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465777	NM_152911.4(PAOX):c.1270C>T (p.Arg424Trp)	PAOX (R424W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289078	NM_152911.4(PAOX):c.1276C>T (p.Arg426Cys)	PAOX (R426C)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2610588	NM_152911.4(PAOX):c.1310A>C (p.Tyr437Ser)	PAOX (Y437S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2429013	NM_152911.4(PAOX):c.1360C>G (p.Gln454Glu)	PAOX (Q454E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3208384	NM_152911.4(PAOX):c.1381G>A (p.Ala461Thr)	PAOX (A461T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2513935	NM_152911.4(PAOX):c.1384G>A (p.Gly462Ser)	PAOX (G462S)	Single nucleotide variant (missense variant +2 more)	not specified	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 3208385	NM_152911.4(PAOX):c.1394T>A (p.Leu465His)	PAOX (L465H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208386	NM_152911.4(PAOX):c.1431G>A (p.Thr477=)	PAOX (V425I)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2511087	NM_152911.4(PAOX):c.1445C>T (p.Thr482Met)	PAOX (T482M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3304212	NM_152911.4(PAOX):c.1446G>A (p.Thr482=)	PAOX (A430T)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2568918	NM_152911.4(PAOX):c.1449C>T (p.His483=)	PAOX (R431W)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2539905	NM_152911.4(PAOX):c.1483C>T (p.Arg495Cys)	PAOX (P442L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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	ADAM8, ADGRA1 +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	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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

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