Full data view for gene PEX1

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

609 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

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     
+/. 21 c.3378C>R r.(?) p.(Tyr1126*) Parent #2 - pathogenic (recessive) g.92120646G>Y g.92491332G>Y Tyr1126X - PEX1_000045 - PubMed: Preuss 2002 - - Germline - - - 0 - DNA SEQ - - PBD PatG013 PubMed: Preuss 2002 - - - Germany - - 0 - - 1 Nancy Braverman
+/. 12 c.? r.634_690del p.? Parent #2 - pathogenic (recessive) g.? - - - PEX1_000047 - PubMed: Tamura 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PatE04 PubMed: Tamura 2001 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.-53C>G r.(?) p.(=) Unknown - benign g.92157802G>C g.92528488G>C - - PEX1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-53C>G r.(?) p.? Parent #1 - VUS g.92157802G>C g.92528488G>C - - PEX1_000036 associated with increased promoter activity PubMed: Maxwell 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Maxwell 2005 - - - - - - 0 - - 1 Nancy Braverman
?/. _1 - r.(?) p.(=) Parent #1 - VUS g.92157886A>G g.92528572A>G -137T>C - PEX1_000035 associated with half normal promoter activity PubMed: Maxwell 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Maxwell 2005 - - - - - - 0 - - 1 Nancy Braverman
?/. 24_ - r.(?) p.(=) Parent #1 - VUS g.92113864_92115995del g.92484550_92486681del [2927-15_3208-342delinsATAGTATAGA;3849+779_3849+2910del], *776_*2907del - PEX1_000073 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
?/. 24_ - r.(?) p.(=) Parent #1 - VUS g.92113864_92115995del g.92484550_92486681del [2927-15_3208-342delinsATAGTATAGA;3849+776_3849+2907del], *776_*2907del - PEX1_000073 no variant 2nd chromosome reported PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 13 c.(2226+1_2417-1)? r.2227_2416del p.? Parent #1 - pathogenic (recessive) g.(92130988_92132354)? - 2227_2416del - PEX1_000022 no variant 2nd chromosome reported PubMed: Preuss 2002 - - Germline - - - 0 - DNA SEQ - - PBD PatG009 PubMed: Preuss 2002 - - - Germany - - 0 - - 1 Nancy Braverman
+/. 13 c.(2226+1_2417-1)? r.2227_2416del p.? Both (homozygous) - pathogenic (recessive) g.(92130988_92132354)? - 2227_2416del - PEX1_000022 - PubMed: Preuss 2002 - - Germline - - - 0 - DNA SEQ - - PBD PatG004 PubMed: Preuss 2002 - - - Germany - - 0 - - 1 Nancy Braverman
+/. 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.92157748A>G g.92528434A>G - - PEX1_000076 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.92157748A>G g.92528434A>G - - PEX1_000076 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.92157748A>G g.92528434A>G - - PEX1_000076 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/+ 1 c.3G>A r.(?) p.(Met1?) Parent #1 - pathogenic g.92157747C>T g.92528433C>T - - PEX1_000078 - MORL Deafness Variation Database, PubMed: Steinberg 1993 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.3G>A r.(?) p.0? Parent #1 - pathogenic (recessive) g.92157747C>T g.92528433C>T - - PEX1_000078 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.5G>A r.(?) p.(Trp2*) Parent #1 - pathogenic (recessive) g.92157745C>T g.92528431C>T - - PEX1_000079 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.56_57del r.(?) p.(Val19Glyfs*48) Parent #1 - pathogenic (recessive) g.92157695_92157696del g.92528381_92528382del 56_57delTG - PEX1_000051 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.56_57del r.(?) p.(Val19Glyfs*48) Parent #2 - pathogenic (recessive) g.92157695_92157696del g.92528381_92528382del 56_57delTG - PEX1_000051 both mutations identified in Waterham clinical lab. - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/+ 1 c.95_97del r.(?) p.(Pro32del) Parent #1 - pathogenic g.92157655_92157657del g.92528341_92528343del - - PEX1_000253 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Thoms 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.129+21C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i c.130-2A>T r.spl? p.? Parent #1 - pathogenic g.92151561T>A g.92522247T>A - - PEX1_000081 - MORL Deafness Variation Database, {PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.130-2A>T r.spl p.? Parent #1 - pathogenic (recessive) g.92151561T>A g.92522247T>A - - PEX1_000081 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.147G>A r.(?) p.(Val49=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223G>A r.(?) p.(Glu75Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.249_250insT r.(?) p.(Leu84Serfs*24) Parent #1 - pathogenic g.92151439_92151440insA g.92522125_92522126insA - - PEX1_000252 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Thoms 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.270del r.(?) p.(Gln91Argfs*41) Parent #1 - pathogenic (recessive) g.92151419del g.92522105del 270delA - PEX1_000060 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - 0 - DNA ? - - PBD Pat707 PubMed: Yik 2009 - - - United States - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.270del r.(?) p.(Gln91Argfs*41) Parent #1 - pathogenic (recessive) g.92151419del g.92522105del 270delA - PEX1_000060 - - - - Germline - - - 0 - DNA PCR, SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/+ 2i c.273+1G>A r.spl? p.? Parent #1 - pathogenic g.92151415C>T g.92522101C>T - - PEX1_000082 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. i2 c.273+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.92151415C>T g.92522101C>T - - PEX1_000082 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/+ 2i c.274-1G>C r.spl? p.? Parent #1 - pathogenic g.92148393C>G g.92519079C>G - - PEX1_000264 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Thoms 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 3 c.274G>C r.(?) p.(Val92Leu) Parent #1 - pathogenic g.92148392C>G g.92519078C>G - - PEX1_000265 - MORL Deafness Variation Database, PubMed: Rosewich 2005 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Rosewich 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.274G>C r.(?) p.(Val92Leu) Paternal (confirmed) ACMG pathogenic (recessive) g.92148392C>G g.92519078C>G - - PEX1_000265 - - - - Germline yes - - 0 - DNA SEQ-NG - - retinal disease Fam23P27 PubMed: Karali 2019, Journal: Karali 2019 - F no Italy - - 0 - - 1 Sandro Banfi
-/. - c.330C>G r.(?) p.(Pro110=) Unknown - benign g.92148336G>C g.92519022G>C PEX1(NM_000466.2):c.330C>G (p.P110=) - PEX1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>G r.(?) p.(Pro110=) Unknown - likely benign g.92148336G>C g.92519022G>C PEX1(NM_000466.2):c.330C>G (p.P110=) - PEX1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 3 c.330C>G r.(=) p.(=) Parent #1 - benign g.92148336G>C g.92519022G>C - - PEX1_000118 - MORL Deafness Variation Database, PubMed: Bean 2013 - - Germline - - - 0 - DNA ? - - - - PubMed: Bean 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.343_344insCT r.(?) p.(Asp115Alafs*18) Both (homozygous) - pathogenic (recessive) g.92148322_92148323insAG g.92519008_92519009insAG - - PEX1_000083 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.358-15G>A r.(=) p.(=) Unknown - benign g.92147584C>T g.92518270C>T PEX1(NM_000466.2):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A - PEX1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.358-15G>A r.(=) p.(=) Unknown - benign g.92147584C>T g.92518270C>T PEX1(NM_000466.2):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A - PEX1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.358-15G>A r.(=) p.(=) Unknown - benign g.92147584C>T g.92518270C>T PEX1(NM_000466.2):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A - PEX1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.358-11G>C r.(=) p.(=) Unknown - benign g.92147580C>G g.92518266C>G PEX1(NM_001282678.2):c.-267-11G>C - PEX1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.382C>A r.(?) p.(Gln128Lys) Parent #1 - likely pathogenic g.92147545G>T g.92518231G>T - - PEX1_000268 - MORL Deafness Variation Database, PubMed: Fromer 2014 - - Germline - - - 0 - DNA ? - - ? - PubMed: Fromer 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.400A>G r.(?) p.(Ile134Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135Ter) Both (homozygous) - pathogenic g.92147524G>A g.92518210G>A - - PEX1_000193 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
?/. - c.412T>C r.(?) p.(Phe138Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.434_448delinsGCAA r.(?) p.(Val145Glyfs*24) Parent #2 - pathogenic (recessive) g.92147479_92147493delinsTTGC g.92518165_92518179delinsTTGC - - PEX1_000027 - PubMed: Walter 2001 - - Germline - - - 0 - DNA SEQ - - PBD Pat5 PubMed: Walter 2001 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.453G>A r.(?) p.(Thr151=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.455A>G r.(?) p.(Tyr152Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457A>C r.(?) p.(Ile153Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468A>G r.(?) p.(Gln156=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.473-18G>A r.(=) p.(=) Unknown - benign g.92147374C>T g.92518060C>T PEX1(NM_001282678.2):c.-152-18G>A - PEX1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.473-3C>T r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.473-3C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473-3C>T r.spl? p.? Unknown - likely 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.473-1G>A r.spl? p.? Parent #1 - pathogenic g.92147357C>T g.92518043C>T - - PEX1_000053 - MORL Deafness Variation Database, PubMed: Yik 2009, PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - , PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 4 c.473-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.92147357C>T g.92518043C>T - - PEX1_000053 - - - - Germline - - - 0 - DNA PCR, SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 4i c.473-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.92147357C>T g.92518043C>T - - PEX1_000053 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat674 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/+ 5 c.475G>C r.(?) p.(Ala159Pro) Parent #1 - pathogenic g.92147354C>G g.92518040C>G - - PEX1_000267 - MORL Deafness Variation Database, PubMed: Sun 2013 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Sun 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 5 c.547C>T r.(?) p.(Arg183*) Parent #1 - pathogenic g.92147282G>A g.92517968G>A - - PEX1_000056 - MORL Deafness Variation Database, PubMed: Yik 2009, PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - , PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.547C>T r.(?) p.(Arg183*) Parent #1 - pathogenic (recessive) g.92147282G>A g.92517968G>A - - PEX1_000056 - - - - Germline - - - 0 - DNA PCR, SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.547C>T r.(?) p.(Arg183*) Parent #1 - pathogenic (recessive) g.92147282G>A g.92517968G>A - - PEX1_000056 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. - c.547C>T r.(?) p.(Arg183*) Parent #1 - pathogenic (recessive) g.92147282G>A - - - PEX1_000056 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - 0 - DNA ? - - PBD Pat719 PubMed: Yik 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.547C>T r.(?) p.(Arg183*) Parent #1 - pathogenic (recessive) g.92147282G>A g.92517968G>A 643_647delACCAA - PEX1_000056 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat651 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/+ 5 c.569C>A r.(?) p.(Ser190*) Parent #1 - pathogenic g.92147260G>T g.92517946G>T - - PEX1_000084 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.569C>A r.(?) p.(Ser190*) Parent #1 - pathogenic (recessive) g.92147260G>T g.92517946G>T - - PEX1_000084 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.569C>A r.(?) p.(Ser190*) Parent #1 - pathogenic (recessive) g.92147260G>T g.92517946G>T - - PEX1_000084 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.569C>A r.(?) p.(Ser190*) Parent #1 - pathogenic (recessive) g.92147260G>T g.92517946G>T - - PEX1_000084 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.569C>A r.(?) p.(Ser190*) Parent #1 - pathogenic (recessive) g.92147260G>T g.92517946G>T - - PEX1_000084 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.574G>A r.(?) p.(Ala192Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.616C>T r.(?) p.(Gln206*) Parent #1 - pathogenic g.92147213G>A g.92517899G>A - - PEX1_000085 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.616C>T r.(?) p.(Gln206*) Parent #1 - pathogenic (recessive) g.92147213G>A g.92517899G>A - - PEX1_000085 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.627G>A r.(?) p.(Met209Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.627G>A r.(?) p.(Met209Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.637C>T r.(?) p.(Leu213Phe) Unknown - benign g.92147192G>A g.92517878G>A PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F) - PEX1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.637C>T r.(?) p.(Leu213Phe) Unknown - likely benign g.92147192G>A g.92517878G>A PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F) - PEX1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.637C>T r.(?) p.(Leu213Phe) Unknown - likely benign g.92147192G>A g.92517878G>A PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F) - PEX1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.643_647del r.(?) p.(Thr215Alafs*11) Parent #1 - pathogenic g.92147185_92147189del g.92517871_92517875del - - PEX1_000061 - MORL Deafness Variation Database, PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Yik 2009 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Rosewich 2005, PubMed: Steinberg 1993, - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.643_647del r.(?) p.(Thr215Alafs*11) Parent #1 - pathogenic (recessive) g.92147185_92147189del g.92517871_92517875del 643_647delACCAA - PEX1_000061 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.643_647del r.(?) p.(Thr215Alafs*11) Parent #1 - pathogenic (recessive) g.92147185_92147189del g.92517871_92517875del 782_783delAA - PEX1_000061 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat662 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.645C>G r.(?) p.(Thr215=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.657_660del r.(?) p.(Ser220Ilefs*22) Parent #1 - likely pathogenic g.92147172_92147175del g.92517858_92517861del - - PEX1_000270 - MORL Deafness Variation Database, PubMed: Richards 2015 - - Germline - - - 0 - DNA ? - - - - PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 5 c.674T>A r.(?) p.(Ile225Asn) Parent #1 - VUS g.92147155A>T g.92517841A>T - - PEX1_000271 - MORL Deafness Variation Database, PubMed: Bean 2013 - - Germline - - - 0 - DNA ? - - - - PubMed: Bean 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.686A>G r.(?) p.(Asn229Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.724G>A r.(?) p.(Val242Ile) Parent #1 - pathogenic g.92147105C>T g.92517791C>T - - PEX1_000273 - MORL Deafness Variation Database, PubMed: Thoms 2011 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Thoms 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.770C>T r.(?) p.(Ser257Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.781C>T r.(?) p.(Gln261*) Parent #1 - pathogenic g.92147048G>A g.92517734G>A - - PEX1_000043 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Tamura 2001, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.781C>T r.781c>u p.Gln261* Parent #1 - pathogenic (recessive) g.92147048G>A g.92517734G>A - - PEX1_000043 - PubMed: Tamura 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PatE14 PubMed: Tamura 2001 - - - - - - 0 - - 1 Nancy Braverman
+/+ 5 c.782_783del r.(?) p.(Gln261Argfs*8) Parent #1 - pathogenic g.92147046_92147047del g.92517732_92517733del - - PEX1_000062 - MORL Deafness Variation Database, PubMed: Sun 2013, PubMed: Steinberg 1993, PubMed: Yik 2009 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Sun 2013, PubMed: Steinberg 1993, - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.782_783del r.(?) p.(Gln261Argfs*8) Parent #2 - pathogenic g.92147046_92147047del - - - PEX1_000062 - - - - Germline - - - 0 - DNA SEQ-NG - - PBD1A 77 - - M - China - - - - - 1 Sha Hong
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8) Parent #1 - pathogenic (recessive) g.92147046_92147047del g.92517732_92517733del 782_783delAA - PEX1_000062 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8) Parent #1 - pathogenic (recessive) g.92147046_92147047del g.92517732_92517733del 782_783delAA - PEX1_000062 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8) Parent #1 - pathogenic (recessive) g.92147046_92147047del g.92517732_92517733del 782_783delAA - PEX1_000062 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat611 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 5 c.782_783del r.(?) p.(Gln261Argfs*8) Parent #1 - pathogenic (recessive) g.92147046_92147047del g.92517732_92517733del 1714_1715delCA - PEX1_000062 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat640 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 5 c.788_789del r.(?) p.(Thr263Ilefs*6) Parent #2 - pathogenic (recessive) g.92147041_92147042del g.92517727_92517728del 788_789delCA - PEX1_000025 - PubMed: Walter 2001 - - Germline - - - 0 - DNA SEQ - - PBD Pat6 PubMed: Walter 2001 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.812A>G r.(?) p.(Asn271Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.812A>G r.(?) p.(Asn271Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.897C>T r.(?) p.(Asn299=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.904del r.(?) p.(Ala302Glnfs*23) Parent #2 - pathogenic (recessive) g.92146925del g.92517611del 904delG - PEX1_000011 - PubMed: Maxwell 2002 - - Germline - - - 0 - DNA SEQ - - PBD Pat4035 PubMed: Maxwell 2002 - - - - - - 0 - - 1 Nancy Braverman
+/+ 5 c.911_912del r.(?) p.(Ser304Cysfs*4) Parent #1 - pathogenic g.92146919_92146920del g.92517605_92517606del - - PEX1_000274 - MORL Deafness Variation Database, PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.920A>C r.(?) p.(His307Pro) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.939T>C r.(?) p.(His313=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.969T>C r.(?) p.(Asp323=) Unknown - likely benign g.92146860A>G - PEX1(NM_001282678.2):c.345T>C (p.D115=) - PEX1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »