Unique variants in the PEX12 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000286.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 1 c.16dup r.(?) p.(Ala6Glyfs*11) - pathogenic (recessive) g.33905025dup - 16dupG - PEX12_000025 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - De novo - - - - - Shandi Hiebler
+/. 1 - c.26_27del r.(?) p.(Thr9Serfs*7) - pathogenic (recessive) g.33905014_33905015del - 26-27delCA - PEX12_000012 - PubMed: Chang 1998 - - Germline - - - - - Johan den Dunnen
+/., -/., ?/. 5 1 c.102A>T r.(?) p.(Arg34Ser) - pathogenic (recessive), benign, VUS g.33904939T>A g.35577920T>A PEX12(NM_000286.2):c.102A>T (p.R34S) - PEX12_000024 VKGL data sharing initiative Nederland PubMed: Zeharia 2007, PubMed: Yik 2009 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Nancy Braverman
+?/., +/. 4 1i c.126+1G>T r.spl?, r.spl p.? - likely pathogenic, pathogenic, pathogenic (recessive) g.33904914C>A g.35577895C>A PEX12(NM_000286.2):c.126+1G>T - PEX12_000010 VKGL data sharing initiative Nederland PubMed: Chang 1998 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Nancy Braverman
+/. 1 2 c.204_206del r.(?) p.(Leu70del) - pathogenic (recessive) g.33904531_33904533del - 202_204delCTT - PEX12_000013 - PubMed: Chang 1998 - - Germline - - - - - Nancy Braverman
+/. 1 2 c.220T>G r.(?) p.(Tyr74Asp) - pathogenic (recessive) g.33904517A>C - - - PEX12_000026 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline/De novo (untested) - - - - - Shandi Hiebler
+/. 1 2 c.260_261insAA r.(?) p.(Tyr87*) - pathogenic (recessive) g.33904476_33904477insTT - 261insAA - PEX12_000002 - PubMed: Steinberg 2004 - - Germline - - - - - Nancy Braverman
+/. 1 2 c.268_271del r.(?) p.(Lys90Glufs*3) - pathogenic (recessive) g.33904466_33904469del - 268_271delAAGA - PEX12_000014 - PubMed: Chang 1998 - - Germline - - - - - Nancy Braverman
+/. 1 2 c.273A>T r.(?) p.(Arg91Ser) - pathogenic (recessive) g.33904464T>A - - - PEX12_000017 - PubMed: Gootjes 2003 - - Germline - - - - - Nancy Braverman
+/. 1 2 c.308dup r.(?) p.(Leu103Phefs*3) - pathogenic (recessive) g.33904429dup - 308_309insT - PEX12_000018 - PubMed: Gootjes 2003 - - Germline - - - - - Nancy Braverman
+/. 1 - c.378_380del r.(?) p.(Lys127del) - pathogenic (recessive) g.33904357_33904359del - 378_380delTTC - PEX12_000037 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.445_454del r.(?) p.(Ser149Glyfs*15) - pathogenic (recessive) g.33904283_33904292del - 445_454delTCTTCCCGCT - PEX12_000027 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - De novo - - - - - Shandi Hiebler
-?/. 1 - c.451C>T r.(?) p.(Arg151Cys) - likely benign g.33904286G>A g.35577267G>A PEX12(NM_000286.2):c.451C>T (p.R151C) - PEX12_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.456G>T r.(?) p.(Trp152Cys) - VUS g.33904281C>A g.35577262C>A PEX12(NM_000286.2):c.456G>T (p.W152C) - PEX12_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.460C>T r.(?) p.(Arg154*) - pathogenic (recessive) g.33904277G>A - - - PEX12_000028 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - - - Shandi Hiebler
+/. 1 - c.478_479del r.(?) p.(Leu160Glyfs*57) - pathogenic (recessive) g.33904258_33904259del - 478_479delCA - PEX12_000007 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.533_535del r.(?) p.(Gln178del) - pathogenic (recessive) g.33904207_33904209del, g.33904202_33904204del g.35577188_35577190del 887_888delTC, 531_533delAAC - PEX12_000003 - PubMed: Yik 2009, PubMed: Steinberg 2004 - - Germline - - - - - Johan den Dunnen, Nancy Braverman
+/. 4 2 c.538C>T r.(?) p.(Arg180*) - pathogenic (recessive) g.33904199G>A - - - PEX12_000011 - PubMed: Okumoto 1998, PubMed: Chang 1998, PubMed: Gootjes 2004 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
+/. 2 2 c.541dup r.(?) p.(Tyr181Leufs*37) - pathogenic (recessive) g.33904196dup g.35577177dup 542insT, 1047_1049delACA - PEX12_000004 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
+/. 1 2 c.604C>T r.(?) p.(Arg202*) - pathogenic (recessive) g.33904133G>A - - - PEX12_000019 - PubMed: Gootjes 2003 - - Germline - - - - - Nancy Braverman
+?/. 1 - c.616C>T r.(?) p.(Gln206*) - likely pathogenic g.33904121G>A g.35577102G>A - - PEX12_000038 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs786205502 Germline - 3/2795 individuals - - - Mohammed Faruq
+/. 1 - c.625C>T r.(?) p.(Gln209*) - pathogenic (recessive) g.33904112G>A - - - PEX12_000020 - PubMed: Gootjes 2003 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.680+3A>G r.spl? p.? - likely benign g.33904054T>C g.35577035T>C PEX12(NM_000286.2):c.680+3A>G - PEX12_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., +/. 3 2i c.681-2A>C r.spl?, r.spl p.? - VUS, pathogenic (recessive) g.33903202T>G g.35576183T>G - - PEX12_000001 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item Faruq 2020, submtted, PubMed: Steinberg 2004, PubMed: Yik 2009 - rs187526749 Germline - 1/2795 individuals - - - Mohammed Faruq, Nancy Braverman, Johan den Dunnen
+/. 1 3 c.684_687del r.(?) p.(Ser229Argfs*3) - pathogenic (recessive) g.33903194_33903197del - 684_687delTAGT - PEX12_000015 - PubMed: Chang 1997, PubMed: Chang 1998 - - Germline - - - - - Nancy Braverman
+/. 1 - c.691A>T r.(?) p.(Lys231*) - pathogenic (recessive) g.33903190T>A - - - PEX12_000034 - PubMed: Okumoto 1997 - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.730_733dup r.(?) p.(Leu245Cysfs*19) - pathogenic (recessive) g.33903148_33903151dup, g.33903149_33903152dup g.35576130_35576133dup 733_734insGCCT, 730_733dupGCCT, 734ins4bpGCCT - PEX12_000005 - PubMed: Chang 1997, PubMed: Chang 1998, PubMed: Yik 2009, PubMed: Steinberg 2004 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
-/. 1 - c.733T>A r.(?) p.(Leu245Ile) - benign g.33903148A>T g.35576129A>T - - PEX12_000041 - PubMed: Yik 2009 - - Germline - 1/116 chromosomes - - - Johan den Dunnen
+/. 1 - c.744dup r.(?) p.(Thr249Tyrfs*14) - pathogenic (recessive) g.33903137dup - 744-745insT - PEX12_000016 - PubMed: Chang 1997, PubMed: Chang 1998 - - Germline - - - - - Johan den Dunnen
?/., +?/. 2 3 c.758T>C r.(?) p.(Val253Ala), p.(Phe1765Ser) - VUS, likely pathogenic (recessive) g.33903123A>G, g.? g.35576104A>G PEX12(NM_000286.2):c.758T>C (p.(Val253Ala)) - PEX12_000023 VKGL data sharing initiative Nederland, ACMG PS1, PM2, PM5, PM6, PP2, PP3 - - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Leiden, Nancy Braverman
+/. 1 - c.765_766dup r.(?) p.(Phe256Tyrfs*22) - pathogenic (recessive) g.33903115_33903116dup - 767_768dupAT - PEX12_000035 - PubMed: Konkolova 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.775C>T r.(?) p.(Gln259*) - pathogenic (recessive) g.33903106G>A - - - PEX12_000029 - PubMed: Ebberink 2011 - - De novo - - - - - Shandi Hiebler
-/. 1 - c.867C>T r.(?) p.(Asp289=) - benign g.33903014G>A g.35575995G>A - - PEX12_000040 - PubMed: Yik 2009 - - Germline - 1/116 chromosomes - - - Johan den Dunnen
+/. 2 3 c.875_876del r.(?) p.(Ser292*) - pathogenic (recessive) g.33903005_33903006del - 875_876delCT - PEX12_000021 - PubMed: Okumoto 1998, PubMed: Krause 2006 - - Germline - - - - - Nancy Braverman
+/. 2 3 c.887del r.(?) p.(Leu296Profs*5) - pathogenic (recessive) g.33902994del g.35575975del 887delT - PEX12_000006 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
+/. 7 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902994_33902995del, g.33902992_33902993del, g.33902993_33902994del g.35575975_35575976del 887_888delTC - PEX12_000008 no variant 2nd chromosome reported PubMed: Yik 2009, PubMed: Chang 1998, PubMed: Gootjes 2003, PubMed: Steinberg 2004, 1 more item - - Germline - - - - - Johan den Dunnen, Nancy Braverman
+/. 1 3 c.920G>A r.(?) p.(Cys307Tyr) - pathogenic (recessive) g.33902961C>T - - - PEX12_000030 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline/De novo (untested) - - - - - Shandi Hiebler
+/. 1 - c.949C>T r.(?) p.(Leu317Phe) - pathogenic (recessive) g.33902932G>A - - - PEX12_000022 - PubMed: Gootjes 2004 - - Germline - - - - - Johan den Dunnen
+/. 11 3 c.959C>T r.(?) p.(Ser320Phe) - pathogenic (recessive) g.33902922G>A g.35575903G>A - - PEX12_000009 - PubMed: Yik 2009, PubMed: Steinberg 2004, PubMed: Gootjes 2004, PubMed: Chang 1999 - - Germline - - - - - Johan den Dunnen, Nancy Braverman
+/. 2 3 c.1047_1049del r.(?) p.(Gln349del) - pathogenic (recessive) g.33902835_33902837del, g.33902832_33902834del g.35575816_35575818del 887_888delTC, 1047-1049delACA - PEX12_000039 - PubMed: Yik 2009, PubMed: Steinberg 2004 - - Germline - - - - - Johan den Dunnen
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