All variants in the PEX5 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000319.4 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

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     
?/. - c.115C>G r.(?) p.(Pro39Ala) - VUS g.7343088C>G g.7190492C>G PEX5(NM_000319.4):c.115C>G (p.(Pro39Ala)) - PEX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.118T>G r.(?) p.(Trp40Gly) - VUS g.7343091T>G g.7190495T>G PEX5(NM_001131025.1):c.118T>G (p.W40G) - PEX5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.147+32_147+121del r.(=) p.(=) - likely benign g.7343152_7343241del g.7190556_7190645del PEX5(NM_001131025.1):c.136_147+78del - PEX5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.147+33A>G r.(=) p.(=) - likely benign g.7343153A>G g.7190557A>G PEX5(NM_001131023.1):c.180A>G (p.A60=) - PEX5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.147+33A>G r.(=) p.(=) - benign g.7343153A>G g.7190557A>G PEX5(NM_001131023.1):c.180A>G (p.A60=) - PEX5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.147+77_147+121del r.(=) p.(=) - benign g.7343197_7343241del g.7190601_7190645del PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del) - PEX5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.147+77_147+121del r.(=) p.(=) - benign g.7343197_7343241del g.7190601_7190645del PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del) - PEX5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.147+77_147+121del r.(=) p.(=) - likely benign g.7343197_7343241del g.7190601_7190645del PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del) - PEX5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.147+77_147+121del r.(=) p.(=) - benign g.7343197_7343241del g.7190601_7190645del PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del) - PEX5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.238C>T r.(?) p.(Gln80Ter) - pathogenic g.7343876C>T g.7191280C>T PEX5(NM_001131025.1):c.238C>T (p.Q80*) - PEX5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.452C>G r.(?) p.(Pro151Arg) - VUS g.7351610C>G g.7199014C>G - - PEX5_000027 13 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs200720523 Germline - 13/2793 individuals - 0 - Mohammed Faruq
+/. - c.545_548dup r.(?) p.(Trp184Serfs*4) - pathogenic (recessive) g.7351703_7351706dup - [1244A>G]+[548-549dupATCG;604G>C] - PEX5_000006 - PubMed: Ebberink 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.548_552-55delins(238)inv r.? p.? - pathogenic (recessive) g.7351706_7354292delins(238)inv - 548_552-55delins238inv - PEX5_000012 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
-?/. - c.604G>C r.(?) p.(Val202Leu) - likely benign g.7354399G>C g.7201803G>C PEX5(NM_000319.4):c.604G>C (p.(Val202Leu)) - PEX5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.604G>C r.(?) p.(Val202Leu) - VUS g.7354399G>C - [1244A>G]+[548-549dupATCG;604G>C] - PEX5_000035 - PubMed: Ebberink 2008 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.709C>T r.(?) p.(Arg237Ter) - likely pathogenic g.7354903C>T g.7202307C>T PEX5(NM_001131025.1):c.709C>T (p.R237*) - PEX5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.754-4G>A r.spl? p.? - likely benign g.7355204G>A g.7202608G>A PEX5(NM_001131025.1):c.754-4G>A - PEX5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 7 c.826C>T r.(?) p.(Arg276*) - pathogenic (recessive) g.7355280C>T - - - PEX5_000009 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
+/. 10 c.1066C>T r.(?) p.(Gln356*) - pathogenic (recessive) g.7360378C>T - 1090C>T (Q364X) - PEX5_000010 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
+/. 11 c.1220A>G r.(?) p.(Asn407Ser) - pathogenic g.7361115A>G - [1244A>G]+[548-549dupATCG;604G>C] (N415S) - PEX5_000004 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
+/. 12 c.1234C>T r.(?) p.(Arg412*) - pathogenic (recessive) g.7361129C>T - 1258C>T (R420X) - PEX5_000011 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
+/. 12 c.1255C>T r.1255c>u p.Arg419* - pathogenic (recessive) g.7361150C>T - 1168C>T (R390X) - PEX5_000003 - PubMed: Dodt 1995, PubMed: Shimozawa 1999 - - Germline - - - 0 - Nancy Braverman
?/. - c.1370+1G>A r.spl? p.? - VUS g.7361266G>A g.7208670G>A PEX5(NM_000319.4):c.1370+1G>A (p.?) - PEX5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1370+5G>A r.spl? p.? - pathogenic g.7361270G>A g.7208674G>A PEX5(NM_001131025.1):c.1394+5G>A - PEX5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 12 c.1370+5G>A r.spl p.? - pathogenic (recessive) g.7361270G>A - 1394+5G>A R394S r.395_465del - PEX5_000007 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
-/. - c.1370+22G>A r.(=) p.(=) - benign g.7361287G>A g.7208691G>A - - PEX5_000028 147 heterozygous; Clinindb (India) Faruq 2020, submtted - rs73051959 Germline - 147/2795 individuals - 0 - Mohammed Faruq
-/. - c.1370+22G>A r.(=) p.(=) - benign g.7361287G>A g.7208691G>A - - PEX5_000028 3 homozygous; Clinindb (India) Faruq 2020, submtted - rs73051959 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.1414C>T r.(?) p.(Arg472Trp) - VUS g.7361644C>T g.7209048C>T PEX5(NM_001131025.1):c.1438C>T (p.R480W) - PEX5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1415G>A r.(?) p.(Arg472Gln) - likely benign g.7361645G>A g.7209049G>A PEX5(NM_000319.4):c.1415G>A (p.(Arg472Gln)) - PEX5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1524C>T r.(?) p.(Ser508=) - likely benign g.7361754C>T - PEX5(NM_001131025.1):c.1548C>T (p.S516=) - PEX5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.1537-2A>C r.[1537_1694del,1537_1561del] p.? - pathogenic (recessive) g.7362277A>C - 1561-2A>C - PEX5_000013 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
-?/. - c.1543T>C r.(?) p.(Leu515=) - likely benign g.7362285T>C g.7209689T>C PEX5(NM_001131025.1):c.1567T>C (p.L523=) - PEX5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 14 c.1554T>G r.1554u>g p.Asn518Lys - pathogenic (recessive) g.7362296T>G - 1467T>G (Asn489Lys) - PEX5_000002 - PubMed: Dodt 1995, PubMed: Shimozawa 1999 - rs61752138 Germline - - - 0 - Nancy Braverman
+/. 14 c.1554T>G r.(?) p.(Asn518Lys) - pathogenic (recessive) g.7362296T>G - 1578T>G (N526K) - PEX5_000002 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
+/. - c.1645C>T r.(?) p.(Arg549Trp) - pathogenic (recessive) g.7362387C>T g.7209791C>T NM_001131025.1:c.1669C>T - PEX5_000025 low genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
+/. 14 c.1645C>T r.(?) p.(Arg549Trp) - pathogenic (recessive) g.7362387C>T - 1669C>T (R557W) - PEX5_000008 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
-?/. - c.1683C>T r.(?) p.(Leu561=) - likely benign g.7362425C>T g.7209829C>T PEX5(NM_001131025.1):c.1707C>T (p.L569=) - PEX5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1699G>A r.(?) p.(Ala567Thr) - VUS g.7362622G>A g.7210026G>A PEX5(NM_000319.4):c.1699G>A (p.(Ala567Thr)) - PEX5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1705G>T r.(?) p.(Glu569Ter) - VUS g.7362628G>T g.7210032G>T PEX5(NM_001131025.1):c.1729G>T (p.E577*) - PEX5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1747G>A r.(?) p.(Gly583Ser) - likely benign g.7362670G>A - PEX5(NM_001131025.1):c.1771G>A (p.G591S) - PEX5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 15 c.1775C>G r.(?) p.(Ser592Trp) - pathogenic (recessive) g.7362698C>G - 1799C>G (S600W) - PEX5_000005 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
+/. 15 c.1775C>G r.(?) p.(Ser592Trp) - pathogenic (recessive) g.7362698C>G - 1799C>G (S600W) - PEX5_000005 - PubMed: Shimozawa 1999 - - Germline - - - 0 - Nancy Braverman
+/. - c.1775C>T r.(?) p.(Ser592Leu) - pathogenic (recessive) g.7362698C>T g.7210102C>T NM_001131025.1:c.1799C>T - PEX5_000026 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
?/. - c.1790G>A r.(?) p.(Ser597Asn) - VUS g.7362713G>A g.7210117G>A PEX5(NM_001131025.1):c.1814G>A (p.S605N) - PEX5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1798C>T r.(?) p.(Arg600Cys) - VUS g.7362721C>T g.7210125C>T PEX5(NM_000319.4):c.1798C>T (p.(Arg600Cys)) - PEX5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1850C>T r.(?) p.(Ala617Val) - likely benign g.7362773C>T - PEX5(NM_000319.4):c.1850C>T (p.(Ala617Val)) - PEX5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*20G>C r.(=) p.(=) - VUS g.7362839G>C g.7210243G>C PEX5(NM_000319.4):c.*20G>C (p.(=)) - PEX5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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