ClinVar for Gene (Select 196743) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2641030	NM_152911.4(PAOX):c.282G>A (p.Glu94=)	PAOX	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 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 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 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 2427551	NC_000010.10:g.(?_134598420)_(135373622_?)dup	ADAM8, CALY +17 more	Duplication	not provided	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 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 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 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 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 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 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 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 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	LINC01166, MTG1 +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)	LINC01166, CLRN3 +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 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 563776	GRCh37/hg19 10q26.3(chr10:133574560-135296619)x4	STK32C, ECHS1 +24 more	Copy number gain	not provided	GUncertain significance
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 443505	GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	ADAM8, ADGRA1 +37 more	Copy number gain	See cases	GPathogenic

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