Full data view for gene PEX26

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_017929.5 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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     
+/. 2 c.2T>C r.(?) p.0? Parent #1 - pathogenic (recessive) g.18561144T>C - - - PEX26_000008 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD GM08771/PBD114 PubMed: Matsumoto 2003, PubMed: Weller 2005 - F - - - - 0 - - 1 Nancy Braverman
?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - VUS g.18561174C>T g.18078408C>T PEX26(NM_001127649.2):c.32C>T (p.P11L) - PEX26_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.34del r.(?) p.(Leu12Serfs*70) Parent #2 - likely pathogenic g.18561176del g.18078410del 29delC - PEX26_000037 - - - - Germline - - - 0 - DNA SEQ-NG - - PBD-7A 34 - - M - China - - - - - 1 Sha Hong
+/. 1 c.34dup r.(?) p.(Leu12Profs*103) Both (homozygous) - pathogenic (recessive) g.18561176dup - 34_35insC - PEX26_000010 - PubMed: Matsumoto 2003 - - Germline - - - 0 - DNA SEQ - - PBD GM07371 PubMed: Matsumoto 2003 - F - - - - 0 - - 1 Nancy Braverman
+/. 2 c.37_38del r.(?) p.(Arg13Glyfs*101) Parent #1 - pathogenic (recessive) g.18561179_18561180del - 37_38delAG - PEX26_000001 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 2 c.37_38del r.(?) p.(Arg13Glyfs*101) Parent #1 - pathogenic (recessive) g.18561179_18561180del g.18078413_18078414del - - PEX26_000001 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat632 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.73_79del r.(?) p.(Val25Argfs*55) Both (homozygous) - pathogenic (recessive) g.18561215_18561221del - 73_79delGTGCGCG - PEX26_000021 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
-?/. - c.98C>T r.(?) p.(Pro33Leu) Unknown - likely benign g.18561240C>T - PEX26(NM_001127649.2):c.98C>T (p.P33L) - PEX26_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130C>T r.(?) p.(Leu44Phe) Unknown - benign g.18561272C>T g.18078506C>T PEX26(NM_001127649.2):c.130C>T (p.L44F) - PEX26_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.131T>C r.(?) p.(Leu44Pro) Parent #1 - pathogenic (recessive) g.18561273T>C - - - PEX26_000016 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD110 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.134T>C r.(?) p.(Leu45Pro) Parent #2 - pathogenic (recessive) g.18561276T>C - T134C - PEX26_000009 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD GM08771/PBD114 PubMed: Matsumoto 2003, PubMed: Weller 2005 - F - - - - 0 - - 1 Nancy Braverman
+/. 2 c.185G>A r.(?) p.(Trp62*) Both (homozygous) - pathogenic (recessive) g.18561327G>A - - - PEX26_000022 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 2 c.192_216del r.(?) p.(Ser64Argfs*10) Parent #1 - pathogenic (recessive) g.18561334_18561358del - - - PEX26_000003 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 2 c.192_216del r.(?) p.(Ser64Argfs*10) Parent #1 - pathogenic (recessive) g.18561334_18561358del g.18078568_18078592del 37_38delAG - PEX26_000003 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat714 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.200A>G r.(?) p.(Asn67Ser) Unknown - likely benign g.18561342A>G g.18078576A>G PEX26(NM_001127649.2):c.200A>G (p.N67S) - PEX26_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.230+1G>T r.[230_231ins[u;230+2_230+173],230_231ins[u;230+2_230+236],230_231ins[u;230+2_231-618]] p.? Both (homozygous) - pathogenic (recessive) g.18561373G>T - - - PEX26_000013 - PubMed: Weller 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD059 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. 3 c.254dup r.(?) p.(Cys86Valfs*29) Parent #1 - pathogenic (recessive) g.18562663dup - 254_255insT - PEX26_000012 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD063/GM16865 PubMed: Matsumoto 2003, PubMed: Weller 2005 - F - - - - 0 - - 1 Nancy Braverman
+/. - c.265G>A r.(?) p.(Gly89Arg) Both (homozygous) - pathogenic (recessive) g.18562674G>A - G265A - PEX26_000011 - PubMed: Matsumoto 2003 - - Germline yes - - 0 - DNA SEQ - - PBD PatA-02/06 PubMed: Matsumoto 2003 2-generation family, 2 affected (F, M) F;M - Japan - - 0 - - 2 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - pathogenic g.18562701C>T g.18079935C>T PEX26(NM_001127649.2):c.292C>T (p.R98W) - PEX26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - likely pathogenic g.18562701C>T g.18079935C>T PEX26(NM_001127649.2):c.292C>T (p.R98W) - PEX26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.292C>T r.(?) p.(Arg98Trp) Unknown - pathogenic g.18562701C>T g.18079935C>T PEX26(NM_001127649.2):c.292C>T (p.R98W) - PEX26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.292C>T r.(?) p.(Arg98Trp) Parent #1 - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 3 c.292C>T r.292c>u p.Arg98Trp Both (homozygous) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Matsumoto 2003, PubMed: Matsumoto 2003 - - Germline - - - 0 - DNA SEQ - - PBD ZP167/GM11335/ PubMed: Matsumoto 2003, PubMed: Matsumoto 2003 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) Parent #1 - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD109 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Gootjes 2003 - - Germline - - - 0 - DNA SEQ - - PBD PBD057 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD111 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. 4 c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.18562701C>T - C292T - PEX26_000005 - PubMed: Matsumoto 2003 - - Germline - - - 0 - DNA SEQ - - PBD PDL35167 PubMed: Matsumoto 2003 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) Parent #2 - pathogenic (recessive) g.18562701C>T - C292T - PEX26_000005 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD063/GM16865 PubMed: Matsumoto 2003, PubMed: Weller 2005 - F - - - - 0 - - 1 Nancy Braverman
+/. - c.292C>T r.(?) p.(Arg98Trp) Parent #2 - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD110 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.292C>T r.(?) p.(Arg98Trp) Both (homozygous) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - 0 - DNA ? - - PBD Pat604 PubMed: Yik 2009 - - - United States - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.292C>T r.(?) p.(Arg98Trp) Parent #1 - pathogenic (recessive) g.18562701C>T g.18079935C>T 1714_1715delCA - PEX26_000005 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat634 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.296G>A r.(?) p.(Trp99*) Both (homozygous) - pathogenic (recessive) g.18562705G>A - - - PEX26_000007 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.296G>A r.(?) p.(Trp99*) Both (homozygous) - pathogenic (recessive) g.18562705G>A - - - PEX26_000007 - PubMed: Al-Sayed 2007 - - Germline yes - - 0 - DNA SEQ - - PBD family PubMed: Al-Sayed 2007 2-generation family, 4 affected sibs, unaffected heterozygous carrier parents - yes Saudi Arabia - - 0 - - 4 Johan den Dunnen
+/. 3 c.296G>A r.(?) p.(Trp99*) Both (homozygous) - pathogenic (recessive) g.18562705G>A g.18079939G>A The entered coordinates do not agree with the intron/exon boundaries for the selected transcript - PEX26_000007 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat676 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.315G>A r.(?) p.(Trp105*) Both (homozygous) - pathogenic (recessive) g.18562724G>A - - - PEX26_000023 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. 3 c.350C>T r.(?) p.(Pro117Leu) Parent #1 - pathogenic (recessive) g.18562759C>T - 305C>T (P117L) - PEX26_000015 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD055 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.353C>G r.(?) p.(Pro118Arg) Parent #2 - pathogenic (recessive) g.18562762C>G - - - PEX26_000004 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 3 c.353C>G r.(?) p.(Pro118Arg) Parent #2 - pathogenic (recessive) g.18562762C>G g.18079996C>G - - PEX26_000004 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat714 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.359T>G r.(?) p.(Val120Gly) Parent #2 - likely pathogenic g.18562768T>G g.18080002T>G - - PEX26_000038 - - - - Germline - - - - - DNA SEQ-NG - - PBD-7A 34 - - M - China - - - - - 1 Sha Hong
-?/. - c.409G>C r.(?) p.(Val137Leu) Unknown - likely benign g.18566240G>C - PEX26(NM_001127649.2):c.409G>C (p.V137L) - PEX26_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.457C>G r.(?) p.(Leu153Val) Unknown - benign g.18566288C>G g.18083522C>G PEX26(NM_001127649.2):c.457C>G (p.L153V) - PEX26_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.457C>G r.(?) p.(Leu153Val) Parent #1 - benign g.18566288C>G g.18083522C>G - - PEX26_000018 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs12484657 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.457C>G r.(?) p.(Leu153Val) Parent #2 - VUS g.18566288C>G - - - PEX26_000018 - PubMed: Weller 2005 - rs12484657 Germline - - - 0 - DNA SEQ - - PBD PBD055 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.457C>G r.(?) p.(Leu153Val) Unknown - benign g.18566288C>G g.18083522C>G - - PEX26_000018 - PubMed: Yik 2009 - - Germline - 0.03 - 0 - DNA SEQ - - PBD - PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.547_548ins[T;426_547] r.(?) p.[Gly183Val;insAla143_Val182] Parent #2 - pathogenic (recessive) g.18566257_18566379dup - c.426_548dup122insT (A143_V182dup+G183V) - PEX26_000017 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD109 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.574C>T r.(?) p.(Arg192*) Parent #2 - pathogenic (recessive) g.18566405C>T - - - PEX26_000006 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 4 c.574C>T r.(?) p.(Arg192*) Parent #2 - pathogenic (recessive) g.18566405C>T g.18083639C>T - - PEX26_000006 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat634 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.628C>T r.(?) p.(His210Tyr) Unknown - VUS g.18566459C>T g.18083693C>T PEX26(NM_001127649.2):c.628C>T (p.(His210Tyr)) - PEX26_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.635G>T r.(?) p.(Gly212Val) Unknown - VUS g.18566466G>T g.18083700G>T PEX26(NM_001127649.2):c.635G>T (p.G212V) - PEX26_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.667+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.18566500T>C - - - PEX26_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 3i c.667+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.18566500T>C g.18083734T>C - - PEX26_000002 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat632 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.667+8A>G r.(=) p.(=) Unknown - likely benign g.18566506A>G g.18083740A>G PEX26(NM_001127649.2):c.667+8A>G - PEX26_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.668-5G>T r.spl? p.? Unknown - likely benign g.18567873G>T g.18085107G>T PEX26(NM_001127649.2):c.668-5G>T (p.?) - PEX26_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - likely benign g.18567938C>T g.18085172C>T PEX26(NM_001127649.2):c.728C>T (p.A243V) - PEX26_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743T>C r.(?) p.(Phe248Ser) Unknown - VUS g.18567953T>C - PEX26(NM_001127649.2):c.743T>C (p.F248S) - PEX26_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.862del r.(?) p.(Arg288Alafs*79) Parent #2 - pathogenic (recessive) g.18570785del - 862delC - PEX26_000014 - PubMed: Weller 2005 - - Germline - - - 0 - DNA SEQ - - PBD PBD055 PubMed: Weller 2005 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.911G>A r.(?) p.(Arg304His) Unknown - likely benign g.18570834G>A g.18088068G>A PEX26(NM_001127649.2):c.911G>A (p.R304H) - PEX26_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*167G>A r.(=) p.(=) Unknown - benign g.18571008G>A g.18088242G>A PEX26(NM_001127649.2):c.*167G>A - PEX26_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2162G>A r.(=) p.(=) Parent #1 - VUS g.18573003G>A g.18090237G>A - - PEX26_000036 14 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs45489191 Germline - 14/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 14 Mohammed Faruq
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