Full data view for gene PEX2

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000318.2 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-160+1G>A r.spl? p.? Unknown - pathogenic g.77912225C>T g.76999989C>T PEX2(NM_001172086.1):c.-160+1G>A - PEX2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.-17-41G>T r.(?) p.(=) Unknown - benign g.77896472C>A - -58G>T - PEX2_000010 - PubMed: Steinberg 2004 - - Germline - 0.179 - 0 - DNA SEQ - - Healthy/Control control PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.-13del r.(?) p.(=) Unknown - benign g.77896428del g.76984192del PEX2(NM_001172086.1):c.-13delC - PEX2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.61G>A r.(?) p.(Asp21Asn) Unknown - VUS g.77896354C>T g.76984118C>T PEX2(NM_001172086.1):c.61G>A (p.D21N) - PEX2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91C>G r.(?) p.(Gln31Glu) Unknown - likely benign g.77896324G>C g.76984088G>C PEX2(NM_001172086.1):c.91C>G (p.Q31E) - PEX2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.115C>T r.(?) p.(Gln39*) Both (homozygous) - pathogenic (recessive) g.77896300G>A - - - PEX2_000014 - PubMed: Krause 2006 - - Germline - - - 0 - DNA SEQ - - PBD PBD-HR1 PubMed: Krause 2006 - F - Turkey - 00y02m 0 - - 1 Nancy Braverman
+/. - c.163G>A r.163g>a p.Glu55Lys Parent #2 - pathogenic (recessive) g.77896252C>T - - - PEX2_000004 - PubMed: Imamura 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PatF-05 PubMed: Imamura 1998 - - - Japan - - 0 - - 1 Nancy Braverman
?/. - c.209A>G r.(?) p.(Tyr70Cys) Unknown - VUS g.77896206T>C g.76983970T>C PEX2(NM_001172086.1):c.209A>G (p.Y70C) - PEX2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.209A>G r.(?) p.(Tyr70Cys) Unknown - VUS g.77896206T>C g.76983970T>C PEX2(NM_001172086.1):c.209A>G (p.Y70C) - PEX2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.273del r.(?) p.(Asn92Thrfs*2) Both (homozygous) - pathogenic (recessive) g.77896142del - 273delT - PEX2_000001 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat637 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.279_283del r.(?) p.(Arg94Serfs*5) Both (homozygous) - pathogenic (recessive) g.77896132_77896136del - 279_283delGAGAT - PEX2_000007 - PubMed: Gootjes 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat4 PubMed: Gootjes 2004 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.282A>T r.(?) p.(Arg94Ser) Unknown - VUS g.77896133T>A g.76983897T>A PEX2(NM_000318.2):c.282A>T (p.(Arg94Ser)), PEX2(NM_001172086.1):c.282A>T (p.R94S) - PEX2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.282A>T r.(?) p.(Arg94Ser) Unknown - likely benign g.77896133T>A g.76983897T>A PEX2(NM_000318.2):c.282A>T (p.(Arg94Ser)), PEX2(NM_001172086.1):c.282A>T (p.R94S) - PEX2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.286C>T r.(?) p.(Gln96Ter) Unknown - likely pathogenic g.77896129G>A g.76983893G>A PEX2(NM_000318.2):c.286C>T (p.(Gln96Ter)) - PEX2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.286C>T r.(?) p.(Gln96*) Both (homozygous) - pathogenic (recessive) g.77896129G>A - - - PEX2_000016 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+?/. - c.310dup r.(?) p.(Ile104AsnfsTer19) Unknown - likely pathogenic g.77896110dup g.76983874dup PEX2(NM_001172086.1):c.310dupA (p.I104Nfs*19) - PEX2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322G>C r.(?) p.(Val108Leu) Unknown - likely benign g.77896093C>G g.76983857C>G PEX2(NM_001172086.1):c.322G>C (p.V108L) - PEX2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.325dup r.(?) p.(Cys109Leufs*14) Both (homozygous) - pathogenic (recessive) g.77896090dup - 325insT - PEX2_000017 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
-?/. - c.330A>G r.(?) p.(Thr110=) Unknown - likely benign g.77896085T>C g.76983849T>C PEX2(NM_001172086.1):c.330A>G (p.T110=) - PEX2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.339_345del r.(?) p.(Arg114*) Both (homozygous) - pathogenic (recessive) g.77896070_77896076del - 339_345delCAGGTGG - PEX2_000018 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 4 c.339_345del r.(?) p.(Arg114*) Parent #1 - pathogenic (recessive) g.77896070_77896076del - 339_345delCAGGTGG - PEX2_000018 unknown variant 2nd chromosome PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. - c.355C>T r.(?) p.(Arg119*) Parent #1 - pathogenic g.77896060G>A g.76983824G>A - - PEX2_000002 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61752123 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Gootjes 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat3 PubMed: Gootjes 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Shimozawa 1992 - - Germline - - - 0 - DNA SEQ - - PBD PatMM/F-01 PubMed: Shimozawa 1992 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat628 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat657 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat661 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Maternal (confirmed) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Shimozawa 1998 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Shimozawa 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.355c>u p.Arg119* Parent #1 - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Imamura 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PatF-05 PubMed: Imamura 1998 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.355c>u p.Arg119* Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Shimozawa 1993 - - Germline - - - 0 - DNA SEQ - - PBD Z3 PubMed: Shimozawa 1993 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.355C>T r.(?) p.(Arg119*) Parent #1 - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Mignarri 2012 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Mignarri 2012 - M - Italy - - 0 - - 1 Johan den Dunnen
-/. - c.373C>A r.(?) p.(Arg125=) Unknown - benign g.77896042G>T g.76983806G>T PEX2(NM_001172086.1):c.373C>A (p.R125=) - PEX2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.373C>T r.(?) p.(Arg125*) Both (homozygous) - pathogenic (recessive) g.77896042G>A - - - PEX2_000003 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat639 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. - c.373C>T r.(?) p.(Arg125*) Maternal (confirmed) - pathogenic (recessive) g.77896042G>A - C373T - PEX2_000003 - PubMed: Shimozawa 1998 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Shimozawa 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - 1 Nancy Braverman
-/. - c.550= r.(=) p.(Arg184=) Unknown - benign g.77895865A>G g.76983629A>G PEX2(NM_001172086.1):c.550T>C (p.C184R) - PEX2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.550del r.(?) p.(Cys184Valfs*8) Both (homozygous) - pathogenic (recessive) g.77895865del - 550delC - PEX2_000006 - PubMed: Shimozawa 2000 - - Germline - - - 0 - DNA SEQ - - PBD PatF-08 PubMed: Shimozawa 2000 - - - Japan - - 0 - - 1 Nancy Braverman
-/. - c.550T>C r.(?) p.(Cys184Arg) Both (homozygous) - benign g.77895865A>G - - - PEX2_000024 - PubMed: Konkolova 2015 - rs10087163 Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Konkolova 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Slovakia (Slovak Republic) white - 0 - - 1 Johan den Dunnen
-?/. - c.556G>A r.(?) p.(Val186Ile) Unknown - likely benign g.77895859C>T - PEX2(NM_001172086.1):c.556G>A (p.V186I) - PEX2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.585T>A r.(?) p.(Leu195=) Unknown - likely benign g.77895830A>T g.76983594A>T PEX2(NM_001172086.1):c.585T>A (p.L195=) - PEX2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.642del r.(?) p.(Lys215Serfs*2) Both (homozygous) - pathogenic (recessive) g.77895773del - 642delG - PEX2_000005 - PubMed: Shimozawa 2000 - - Germline - - - 0 - DNA SEQ - - PBD PatF-06 PubMed: Shimozawa 2000 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.669G>A r.(?) p.(Trp223*) Both (homozygous) - pathogenic (recessive) g.77895746C>T - - - PEX2_000008 - PubMed: Gootjes 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat2 PubMed: Gootjes 2004 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.698G>A r.(?) p.(Ser233Asn) Unknown - likely benign g.77895717C>T g.76983481C>T PEX2(NM_001172086.1):c.698G>A (p.S233N) - PEX2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.739T>C r.(?) p.(Cys247Arg) Both (homozygous) - pathogenic (recessive) g.77895676A>G - - - PEX2_000009 - PubMed: Gootjes 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat1 PubMed: Gootjes 2004 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.748T>C r.(?) p.(Trp250Arg) Unknown - likely benign g.77895667A>G g.76983431A>G PEX2(NM_000318.2):c.748T>C (p.(Trp250Arg)), PEX2(NM_001172086.1):c.748T>C (p.W250R) - PEX2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.748T>C r.(?) p.(Trp250Arg) Unknown - likely benign g.77895667A>G g.76983431A>G PEX2(NM_000318.2):c.748T>C (p.(Trp250Arg)), PEX2(NM_001172086.1):c.748T>C (p.W250R) - PEX2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748T>C r.(?) p.(Trp250Arg) Parent #1 - VUS g.77895667A>G g.76983431A>G - - PEX2_000042 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs142645936 Germline - 6/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/. 4 c.782A>G r.(?) p.(His261Arg) Parent #1 - pathogenic (recessive) g.77895633T>C - - - PEX2_000019 unknown variant 2nd chromosome PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 4 c.791G>A r.(?) p.(Cys264Tyr) Parent #1 - pathogenic (recessive) g.77895624C>T - - - PEX2_000020 unknown variant 2nd chromosome PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
-?/. - c.820T>C r.(?) p.(Phe274Leu) Unknown - likely benign g.77895595A>G g.76983359A>G PEX2(NM_001172086.1):c.820T>C (p.F274L) - PEX2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.834_838del r.(?) p.(Phe278Leufs*3) Both (homozygous) - pathogenic (recessive) g.77895577_77895581del - 834_838delTACTT - PEX2_000015 - PubMed: Krause 2006 - - Germline - - - 0 - DNA SEQ - - PBD PBD-HR2/3 PubMed: Krause 2006 2 patients (F, M) F;M - Turkey - - 0 - - 2 Nancy Braverman
+/. - c.865dup r.(?) p.(Ser289Lysfs*36) Both (homozygous) - pathogenic (recessive) g.77895550dup - 865_866insA - PEX2_000043 father not available PubMed: Sevin 2011 - - Germline yes - - 0 - DNA SEQ - PEX gene panel ? Pat1/2 PubMed: Sevin 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M no France - - 0 - - 1 Johan den Dunnen
+/. - c.865dup r.(?) p.(Ser289Lysfs*36) Parent #2 - pathogenic (recessive) g.77895550dup - 865_866insA - PEX2_000043 - PubMed: Mignarri 2012 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Mignarri 2012 - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 4 c.866dup r.(?) p.(Ser289Argfs*36) Parent #1 - pathogenic (recessive) g.77895549dup - 866insA - PEX2_000021 unknown variant 2nd chromosome PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
?/. - c.869T>G r.(?) p.(Leu290Arg) Unknown - VUS g.77895546A>C g.76983310A>C - - PEX2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query