Unique variants in the PEX1 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000466.2 transcript reference sequence.

226 entries on 3 pages. Showing entries 1 - 100.
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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 21 c.3378C>R r.(?) p.(Tyr1126*) - pathogenic (recessive) g.92120646G>Y g.92491332G>Y Tyr1126X - PEX1_000045 - PubMed: Preuss 2002 - - Germline - - - - - Nancy Braverman
+/. 1 12 c.? r.634_690del p.? - pathogenic (recessive) g.? - - - PEX1_000047 - PubMed: Tamura 2001 - - Germline - - - - - Nancy Braverman
-/., ?/. 2 1 c.-53C>G r.(?) p.(=), p.? - benign, VUS g.92157802G>C g.92528488G>C - - PEX1_000036 VKGL data sharing initiative Nederland, associated with increased promoter activity PubMed: Maxwell 2005 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Nancy Braverman
?/. 3 24_, _1 - r.(?) p.(=) - VUS g.92113864_92115995del, g.92157886A>G g.92484550_92486681del, g.92528572A>G [2927-15_3208-342delinsATAGTATAGA;3849+779_3849+2910del], *776_*2907del, -137T>C, 1 more item - PEX1_000073, PEX1_000035 no variant 2nd chromosome reported, associated with half normal promoter activity PubMed: Ebberink 2011, PubMed: Maxwell 2005 - - Germline - - - - - Johan den Dunnen, Nancy Braverman
+/. 2 13 c.(2226+1_2417-1)? r.2227_2416del p.? - pathogenic (recessive) g.(92130988_92132354)? - 2227_2416del - PEX1_000022 no variant 2nd chromosome reported PubMed: Preuss 2002 - - Germline - - - - - Nancy Braverman
+/. 3 1 c.2T>C r.(?) p.0? - pathogenic (recessive) g.92157748A>G g.92528434A>G - - PEX1_000076 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
+/., +/+ 2 1 c.3G>A r.(?) p.0?, p.(Met1?) - pathogenic (recessive), pathogenic g.92157747C>T g.92528433C>T - - PEX1_000078 - PubMed: Ebberink 2011, MORL Deafness Variation Database, PubMed: Steinberg 1993 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/. 1 1 c.5G>A r.(?) p.(Trp2*) - pathogenic (recessive) g.92157745C>T g.92528431C>T - - PEX1_000079 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
+/. 2 1 c.56_57del r.(?) p.(Val19Glyfs*48) - pathogenic (recessive) g.92157695_92157696del g.92528381_92528382del 56_57delTG - PEX1_000051 both mutations identified in Waterham clinical lab. PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
+/+ 1 1 c.95_97del r.(?) p.(Pro32del) - pathogenic g.92157655_92157657del g.92528341_92528343del - - PEX1_000253 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.129+21C>T r.(=) p.(=) - likely benign g.92157600G>A g.92528286G>A PEX1(NM_001282678.2):c.-531+21C>T - PEX1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +/+ 2 2, 1i c.130-2A>T r.spl, r.spl? p.? - pathogenic (recessive), pathogenic g.92151561T>A g.92522247T>A - - PEX1_000081 - PubMed: Ebberink 2011, MORL Deafness Variation Database, {PubMed: Xiong 2015 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
-?/. 1 - c.147G>A r.(?) p.(Val49=) - likely benign g.92151542C>T g.92522228C>T PEX1(NM_000466.2):c.147G>A (p.V49=) - PEX1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.223G>A r.(?) p.(Glu75Lys) - VUS g.92151466C>T g.92522152C>T PEX1(NM_000466.2):c.223G>A (p.E75K) - PEX1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.249_250insT r.(?) p.(Leu84Serfs*24) - pathogenic g.92151439_92151440insA g.92522125_92522126insA - - PEX1_000252 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 2 2 c.270del r.(?) p.(Gln91Argfs*41) - pathogenic (recessive) g.92151419del g.92522105del 270delA - PEX1_000060 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/., +/+ 2 i2, 2i c.273+1G>A r.spl, r.spl? p.? - pathogenic (recessive), pathogenic g.92151415C>T g.92522101C>T - - PEX1_000082 - PubMed: Ebberink 2011, MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/+ 1 2i c.274-1G>C r.spl? p.? - pathogenic g.92148393C>G g.92519079C>G - - PEX1_000264 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - - - Global Variome, with Curator vacancy
+/+, +?/. 2 3 c.274G>C r.(?) p.(Val92Leu) ACMG pathogenic, pathogenic (recessive) g.92148392C>G g.92519078C>G - - PEX1_000265 - MORL Deafness Variation Database, PubMed: Rosewich 2005 - - Germline yes - - - - Global Variome, with Curator vacancy, Sandro Banfi
-/., -?/., -/- 3 3 c.330C>G r.(?), r.(=) p.(Pro110=), p.(=) - benign, likely benign g.92148336G>C g.92519022G>C PEX1(NM_000466.2):c.330C>G (p.P110=) - PEX1_000118 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Bean 2013 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Global Variome, with Curator vacancy
+/. 1 3 c.343_344insCT r.(?) p.(Asp115Alafs*18) - pathogenic (recessive) g.92148322_92148323insAG g.92519008_92519009insAG - - PEX1_000083 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
-/. 3 - c.358-15G>A r.(=) p.(=) - benign g.92147584C>T g.92518270C>T 1 more item - PEX1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.358-11G>C r.(=) p.(=) - benign g.92147580C>G g.92518266C>G PEX1(NM_001282678.2):c.-267-11G>C - PEX1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 4 c.382C>A r.(?) p.(Gln128Lys) - likely pathogenic g.92147545G>T g.92518231G>T - - PEX1_000268 - MORL Deafness Variation Database, PubMed: Fromer 2014 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.400A>G r.(?) p.(Ile134Val) - likely benign g.92147527T>C g.92518213T>C PEX1(NM_000466.2):c.400A>G (p.I134V) - PEX1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.403C>T r.(?) p.(Arg135Ter) - pathogenic g.92147524G>A g.92518210G>A - - PEX1_000193 - - - - Unknown - - - - - IMGAG
?/. 1 - c.412T>C r.(?) p.(Phe138Leu) - VUS g.92147515A>G g.92518201A>G PEX1(NM_000466.2):c.412T>C (p.F138L) - PEX1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.434_448delinsGCAA r.(?) p.(Val145Glyfs*24) - pathogenic (recessive) g.92147479_92147493delinsTTGC g.92518165_92518179delinsTTGC - - PEX1_000027 - PubMed: Walter 2001 - - Germline - - - - - Nancy Braverman
-?/. 1 - c.453G>A r.(?) p.(Thr151=) - likely benign g.92147474C>T g.92518160C>T PEX1(NM_000466.2):c.453G>A (p.T151=) - PEX1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.455A>G r.(?) p.(Tyr152Cys) - VUS g.92147472T>C g.92518158T>C PEX1(NM_000466.2):c.455A>G (p.Y152C) - PEX1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.457A>C r.(?) p.(Ile153Leu) - VUS g.92147470T>G g.92518156T>G PEX1(NM_000466.2):c.457A>C (p.I153L) - PEX1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.468A>G r.(?) p.(Gln156=) - likely benign g.92147459T>C g.92518145T>C PEX1(NM_000466.2):c.468A>G (p.Q156=) - PEX1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.473-18G>A r.(=) p.(=) - benign g.92147374C>T g.92518060C>T PEX1(NM_001282678.2):c.-152-18G>A - PEX1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 3 - c.473-3C>T r.spl? p.? - likely benign, benign g.92147359G>A g.92518045G>A PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T - PEX1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/., +/+ 3 4, 4i c.473-1G>A r.spl, r.spl? p.? - pathogenic (recessive), pathogenic g.92147357C>T g.92518043C>T - - PEX1_000053 - MORL Deafness Variation Database, PubMed: Yik 2009, PubMed: Xiong 2015, PubMed: Yik 2009 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy, Johan den Dunnen
+/+ 1 5 c.475G>C r.(?) p.(Ala159Pro) - pathogenic g.92147354C>G g.92518040C>G - - PEX1_000267 - MORL Deafness Variation Database, PubMed: Sun 2013 - - Germline - - - - - Global Variome, with Curator vacancy
+/., +/+ 5 5 c.547C>T r.(?) p.(Arg183*) - pathogenic (recessive), pathogenic g.92147282G>A g.92517968G>A 643_647delACCAA - PEX1_000056 - MORL Deafness Variation Database, PubMed: Yik 2009, PubMed: Xiong 2015, PubMed: Yik 2009, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy, Johan den Dunnen
+/., +/+ 5 5 c.569C>A r.(?) p.(Ser190*) - pathogenic (recessive), pathogenic g.92147260G>T g.92517946G>T - - PEX1_000084 - PubMed: Ebberink 2011, MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
?/. 1 - c.574G>A r.(?) p.(Ala192Thr) - VUS g.92147255C>T g.92517941C>T PEX1(NM_000466.2):c.574G>A (p.A192T) - PEX1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+ 2 5 c.616C>T r.(?) p.(Gln206*) - pathogenic (recessive), pathogenic g.92147213G>A g.92517899G>A - - PEX1_000085 - PubMed: Ebberink 2011, MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
?/. 2 - c.627G>A r.(?) p.(Met209Ile) - VUS g.92147202C>T g.92517888C>T PEX1(NM_000466.2):c.627G>A (p.(Met209Ile)), PEX1(NM_001282678.1):c.3G>A (p.M1?) - PEX1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-/., -?/. 3 - c.637C>T r.(?) p.(Leu213Phe) - benign, likely benign g.92147192G>A g.92517878G>A 1 more item - PEX1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/., +/+ 3 5 c.643_647del r.(?) p.(Thr215Alafs*11) - pathogenic (recessive), pathogenic g.92147185_92147189del g.92517871_92517875del 643_647delACCAA, 782_783delAA - PEX1_000061 - MORL Deafness Variation Database, PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Yik 2009, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy, Johan den Dunnen
-?/. 1 - c.645C>G r.(?) p.(Thr215=) - likely benign g.92147184G>C g.92517870G>C PEX1(NM_001282678.2):c.21C>G (p.T7=) - PEX1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 5 c.657_660del r.(?) p.(Ser220Ilefs*22) - likely pathogenic g.92147172_92147175del g.92517858_92517861del - - PEX1_000270 - MORL Deafness Variation Database, PubMed: Richards 2015 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 5 c.674T>A r.(?) p.(Ile225Asn) - VUS g.92147155A>T g.92517841A>T - - PEX1_000271 - MORL Deafness Variation Database, PubMed: Bean 2013 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.686A>G r.(?) p.(Asn229Ser) - VUS g.92147143T>C g.92517829T>C PEX1(NM_000466.2):c.686A>G (p.(Asn229Ser)) - PEX1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 5 c.724G>A r.(?) p.(Val242Ile) - pathogenic g.92147105C>T g.92517791C>T - - PEX1_000273 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.770C>T r.(?) p.(Ser257Phe) - VUS g.92147059G>A g.92517745G>A PEX1(NM_001282678.2):c.146C>T (p.S49F) - PEX1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +/. 2 5 c.781C>T r.(?), r.781c>u p.(Gln261*), p.Gln261* - pathogenic, pathogenic (recessive) g.92147048G>A g.92517734G>A - - PEX1_000043 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Tamura 2001 - - Germline - - - - - Global Variome, with Curator vacancy, Nancy Braverman
+/., +/+ 6 5 c.782_783del r.(?) p.(Gln261Argfs*8) - pathogenic (recessive), pathogenic g.92147046_92147047del g.92517732_92517733del 782_783delAA, 1714_1715delCA - PEX1_000062 - MORL Deafness Variation Database, PubMed: Sun 2013, PubMed: Steinberg 1993, PubMed: Yik 2009, 1 more item - - Germline - - - - - Nancy Braverman, Sha Hong, Global Variome, with Curator vacancy, Johan den Dunnen
+/. 1 5 c.788_789del r.(?) p.(Thr263Ilefs*6) - pathogenic (recessive) g.92147041_92147042del g.92517727_92517728del 788_789delCA - PEX1_000025 - PubMed: Walter 2001 - - Germline - - - - - Nancy Braverman
-/., -?/. 2 - c.812A>G r.(?) p.(Asn271Ser) - benign, likely benign g.92147017T>C g.92517703T>C PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S) - PEX1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.897C>T r.(?) p.(Asn299=) - likely benign g.92146932G>A g.92517618G>A PEX1(NM_001282678.2):c.273C>T (p.N91=) - PEX1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 5 c.904del r.(?) p.(Ala302Glnfs*23) - pathogenic (recessive) g.92146925del g.92517611del 904delG - PEX1_000011 - PubMed: Maxwell 2002 - - Germline - - - - - Nancy Braverman
+/+ 1 5 c.911_912del r.(?) p.(Ser304Cysfs*4) - pathogenic g.92146919_92146920del g.92517605_92517606del - - PEX1_000274 - 1 more item - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.920A>C r.(?) p.(His307Pro) - likely benign g.92146909T>G g.92517595T>G PEX1(NM_000466.2):c.920A>C (p.(His307Pro)) - PEX1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.939T>C r.(?) p.(His313=) - likely benign g.92146890A>G g.92517576A>G PEX1(NM_001282678.1):c.315T>C (p.H105=) - PEX1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.969T>C r.(?) p.(Asp323=) - likely benign g.92146860A>G - PEX1(NM_001282678.2):c.345T>C (p.D115=) - PEX1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1064C>T r.(?) p.(Pro355Leu) - VUS g.92146765G>A - PEX1(NM_001282678.1):c.440C>T (p.P147L) - PEX1_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.1108dup r.(?) p.(Ile370Asnfs*2) - pathogenic (recessive) g.92146729dup g.92517415dup 1108_1109insA - PEX1_000039 - PubMed: Maxwell 2005 - - Germline - - - - - Nancy Braverman
-/. 2 - c.1142C>A r.(?) p.(Ala381Asp) - benign g.92146687G>T g.92517373G>T PEX1(NM_001282678.1):c.518C>A (p.A173D), PEX1(NM_001282678.2):c.518C>A (p.A173D) - PEX1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/? 1 5 c.1187A>G r.(?) p.(Asn396Ser) - VUS g.92146642T>C g.92517328T>C - - PEX1_000272 - MORL Deafness Variation Database, PubMed: Bean 2013 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 5 c.1193del r.(?) p.(Ile398Thrfs*7) - pathogenic (recessive) g.92146636del g.92517322del 1193delT - PEX1_000086 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
+/. 1 6 c.1239G>A r.(?) p.(Trp413*) - pathogenic (recessive) g.92146590C>T g.92517276C>T - - PEX1_000072 - PubMed: Collins 1999 - - Germline - - - - - Nancy Braverman
+/., +/+ 4 5, 4i, 5i, p.? c.1239+1G>T r.spl, r.spl?, r.(?) p.?, r.spl - pathogenic (recessive), pathogenic g.92146589C>A g.92517275C>A 1240+G>T, 1240+1G>T - PEX1_000054 - PubMed: Ratbi 2015, Journal: Ratbi 2015, MORL Deafness Variation Database, PubMed: Yik 2009, 1 more item - - Germline - - - - - Nancy Braverman, Jamie Zeegers, Global Variome, with Curator vacancy, Johan den Dunnen
?/. 1 - c.1276A>G r.(?) p.(Met426Val) - VUS g.92143245T>C g.92513931T>C - - PEX1_000305 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1277T>C r.(?) p.(Met426Thr) - VUS g.92143244A>G g.92513930A>G PEX1(NM_001282678.1):c.653T>C (p.M218T) - PEX1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1281T>G r.(?) p.(His427Gln) - likely benign g.92143240A>C g.92513926A>C PEX1(NM_001282678.1):c.657T>G (p.H219Q) - PEX1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1324C>T r.(?) p.(Pro442Ser) - VUS g.92143197G>A g.92513883G>A PEX1(NM_000466.2):c.1324C>T (p.(Pro442Ser)) - PEX1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 6 c.1340T>C r.(?) p.(Leu447Ser) - pathogenic (recessive) g.92143181A>G g.92513867A>G - - PEX1_000087 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
-?/., ?/. 4 - c.1360-4G>T r.spl? p.? - likely benign, VUS g.92141021C>A g.92511707C>A 1 more item - PEX1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Groningen
+/+ 1 7 c.1370dup r.(?) p.(Ser458Lysfs*2) - pathogenic g.92141007dup g.92511693dup - - PEX1_000269 - MORL Deafness Variation Database, PubMed: Ebberink 2011 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.1374T>G r.(?) p.(Ser458Arg) - VUS g.92141003A>C g.92511689A>C PEX1(NM_001282678.1):c.750T>G (p.S250R) - PEX1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+ 2 7 c.1411C>T r.(?) p.(Gln471*) - pathogenic (recessive), pathogenic g.92140966G>A g.92511652G>A - - PEX1_000088 - PubMed: Ebberink 2011, MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/. 2 7 c.1414C>T r.(?) p.(Gln472*) - pathogenic (recessive) g.92140963G>A g.92511649G>A - - PEX1_000089 no variant 2nd chromosome reported PubMed: Ebberink 2011, MORL Deafness Variation Database, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/+ 1 7 c.1439del r.(?) p.(Leu480Trpfs*2) - pathogenic g.92140940del g.92511626del - - PEX1_000266 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - - - Global Variome, with Curator vacancy
+/., +/+ 2 8 c.1501_1502del r.(?) p.(Leu501Glufs*12) - pathogenic (recessive), pathogenic g.92140346_92140347del g.92511032_92511033del 1501_1502delCT - PEX1_000090 - PubMed: Ebberink 2011, MORL Deafness Variation Database, PubMed: Steinberg 1993 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
-?/. 1 - c.1506T>C r.(?) p.(Ser502=) - likely benign g.92140339A>G g.92511025A>G PEX1(NM_001282678.1):c.882T>C (p.S294=) - PEX1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 8 c.1508_1509dup r.(?) p.(Val504*) - pathogenic (recessive) g.92140338_92140339dup g.92511024_92511025dup 1509_1510insTA, 1509_1510dupTA - PEX1_000052 both mutations identified in Waterham clinical lab., no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
-/., -?/. 2 - c.1521G>C r.(?) p.(Trp507Cys) - benign, likely benign g.92140324C>G g.92511010C>G PEX1(NM_001282678.1):c.897G>C (p.W299C), PEX1(NM_001282678.2):c.897G>C (p.W299C) - PEX1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
+?/+? 1 8 c.1576A>G r.(?) p.(Thr526Ala) - likely pathogenic g.92140269T>C g.92510955T>C - - PEX1_000263 - MORL Deafness Variation Database, PubMed: Ebberink 2011 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 4 - c.1579A>G r.(?) p.(Thr527Ala) - likely benign g.92140266T>C g.92510952T>C 1 more item - PEX1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1587+5T>C r.spl? p.? - likely benign g.92140253A>G g.92510939A>G PEX1(NM_001282678.2):c.963+5T>C - PEX1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 9 c.1663T>C r.(?) p.(Ser555Pro) - pathogenic (recessive) g.92138650A>G g.92509336A>G - - PEX1_000091 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
+?/., +/. 2 9 c.1670+5G>T r.spl?, r.spl p.? - likely pathogenic, pathogenic (recessive) g.92138638C>A g.92509324C>A PEX1(NM_000466.2):c.1670+5G>T (p.?) - PEX1_000026 VKGL data sharing initiative Nederland PubMed: Walter 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Nancy Braverman
-?/. 1 - c.1670+7A>C r.(=) p.(=) - likely benign g.92138636T>G g.92509322T>G PEX1(NM_000466.2):c.1670+7A>C (p.(=)) - PEX1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.1671-7T>C r.(=) p.(=) - benign, likely benign g.92136447A>G g.92507133A>G PEX1(NM_001282678.1):c.1047-7T>C, PEX1(NM_001282678.2):c.1047-7T>C - PEX1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
+/. 1 10 c.1706A>C r.(?) p.(His569Pro) - pathogenic (recessive) g.92136405T>G g.92507091T>G - - PEX1_000092 - PubMed: Ebberink 2011 - - Germline - - - - - Nancy Braverman
+/. 2 10 c.1713_1716del r.(?) p.(His572Alafs*11), p.(His572AlafsTer11) - pathogenic (recessive), pathogenic g.92136399_92136402del g.92507085_92507088del 1713_1716delTCAC, PEX1(NM_001282678.1):c.1089_1092delTCAC (p.H364Afs*11) - PEX1_000093 VKGL data sharing initiative Nederland PubMed: Ebberink 2011 - - Germline, CLASSIFICATION record - - - - - Nancy Braverman, VKGL-NL_Rotterdam
+/., +/+ 7 10 c.1716_1717del r.(?) p.(His572Glnfs*19) - pathogenic (recessive), pathogenic g.92136396_92136397del g.92507082_92507083del 1714_1715delCA, 2537_2545delinsTCATGGT - PEX1_000055 - MORL Deafness Variation Database, PubMed: Steinberg 1993, PubMed: Ebberink 2011, PubMed: Yik 2009, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy, Johan den Dunnen
-?/. 1 - c.1725G>A r.(?) p.(Leu575=) - likely benign g.92136386C>T - PEX1(NM_001282678.1):c.1101G>A (p.L367=) - PEX1_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.1742G>A r.(?) p.Arg581Gln - NA g.92136369C>T g.92507055C>T - - PEX1_000286 cDNA expression cloning in PEX1 defective fibroblasts showed reduced complementation (0.25) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 2 10 c.1742G>C r.(?) p.(Arg581Pro) - pathogenic g.92136369C>G g.92507055C>G - - PEX1_000284 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline - - - - - Jamie Zeegers
+/., +/+ 3 10 c.1769T>G r.(?) p.(Leu590Arg) - pathogenic (recessive), pathogenic g.92136342A>C g.92507028A>C 2097_2098insT - PEX1_000058 - MORL Deafness Variation Database, PubMed: Yik 2009, PubMed: Xiong 2015, PubMed: Yik 2009 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy, Johan den Dunnen
+/+, +/. 3 10 c.1777G>A r.(?) p.(Gly593Arg) - pathogenic, pathogenic (recessive) g.92136334C>T g.92507020C>T 2097_2098insT - PEX1_000029 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Yik 2009, PubMed: Walter 2001 - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Nancy Braverman
-/. 1 - c.1804-12A>T r.(=) p.(=) - benign g.92135670T>A g.92506356T>A PEX1(NM_001282678.2):c.1180-12A>T - PEX1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 11 c.1842del r.(?) p.(Glu615Lysfs*30) - pathogenic (recessive) g.92135622del g.92506308del 1842delA, 1840delA - PEX1_000063 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/+ 1 11 c.1865_1866insGAGTGTGGA r.(?) p.(Ala622_His623insSerValAsp) - pathogenic g.92135596_92135597insTCCACACTC g.92506282_92506283insTCCACACTC - - PEX1_000256 - MORL Deafness Variation Database, PubMed: Rosewich 2005 - - Germline - - - - - Global Variome, with Curator vacancy
+/+, +/. 2 11 c.1886_1887del r.(?) p.(Cys629*) - pathogenic, pathogenic (recessive) g.92135576_92135577del g.92506262_92506263del 1886_1887delGT - PEX1_000094 - MORL Deafness Variation Database, PubMed: Ebberink 2011 - - Germline - - - - - Global Variome, with Curator vacancy, Nancy Braverman
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