Full data view for gene PEX6

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000287.3 transcript reference sequence.

266 entries on 3 pages. Showing entries 1 - 100.
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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     
+/. 3 c.1047-2 A>G r.(?) p.? Both (homozygous) - pathogenic (recessive) g.? - - - PEX6_000074 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
-/. 1 c.-55C>T r.(?) p.(=) Parent #1 - benign g.42946943G>A - - - PEX6_000042 - - - - Germline - 0.54 - 0 - DNA SEQ - - Healthy/Control - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
-/. _1 - - - Parent #1 - benign g.42947192T>C - 304A>G - PEX6_000043 - - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - United States - - 0 - - 1 Nancy Braverman
+/. 1 c.10_69del r.(?) p.(Ala4_Leu23del) Parent #1 - pathogenic (recessive) g.42946820_42946879del - [10_69del;126_217del] - PEX6_000004 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.10_69del r.(?) p.(Ala4_Leu23del) Parent #1 - pathogenic (recessive) g.42946820_42946879del - [10_69del;126_217del] - PEX6_000004 - {DBSubmBaltimore, USA 2006} - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD patient - - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.10_69del r.(?) p.(Ala4_Leu23del) Parent #1 - pathogenic (recessive) g.42946820_42946879del - [10_69del;126_217del] - PEX6_000004 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD patient - - - - United States - - 0 - - 1 Nancy Braverman
-?/. - c.25C>T r.(?) p.(Leu9=) Unknown - likely benign g.42946864G>A g.42979126G>A PEX6(NM_000287.3):c.25C>T (p.L9=) - GNMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35T>C r.(?) p.(Phe12Ser) Parent #1 - pathogenic (recessive) g.42946854A>G - - - PEX6_000054 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat718 PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/+ 1 c.115_120del r.(?) p.(Ala39_Leu40del) Parent #1 - pathogenic g.42946772_42946777del g.42979034_42979039del - - PEX6_000230 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.115_120del r.(?) p.(Ala39_Leu40del) Parent #1 - pathogenic (recessive) g.42946769_42946774del - 114_119delTGGCCCT - PEX6_000061 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.126_217del r.(?) p.(Gly44Thrfs*3) Parent #1 - pathogenic (recessive) g.42946672_42946763del - [10_69del;126_217del] - PEX6_000113 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD patient - - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.126_217del r.(?) p.(Gly44Thrfs*3) Parent #1 - pathogenic (recessive) g.42946672_42946763del - [10_69del;126_217del] - PEX6_000113 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD patient - - - - United States - - 0 - - 1 Nancy Braverman
+/. 1 c.126_217del r.(?) p.(Gly44Thrfs*3) Parent #1 - pathogenic (recessive) g.42946672_42946763del - [10_69del;126_217del] - PEX6_000113 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.170T>C r.170u>c p.Leu57Pro Both (homozygous) - pathogenic (recessive) g.42946719A>G g.42978981A>G - - PEX6_000020 - PubMed: Imamura 2000, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-11 PubMed: Imamura 2000 - - - Japan - - 0 - - 1 Nancy Braverman
-/. - c.210G>A r.(?) p.(Gly70=) Unknown - benign g.42946679C>T g.42978941C>T - - PEX6_000235 - PubMed: Yik 2009 - - Germline - 1/116 chromosomes - 0 - DNA SEQ - - PBD - PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.224dup r.(?) p.(Val76Glyfs*2) Parent #1 - pathogenic (recessive) g.42946665dup - 224dupT - PEX6_000062 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
-/. 1 c.235G>C r.(?) p.(Ala79Pro) Parent #1 - benign g.42946654C>G - - - PEX6_000035 - PubMed: Steinberg 2004 - - Germline - 0.026 - 0 - DNA SEQ - - Healthy/Control controls PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.235G>C r.(?) p.(Ala79Pro) Unknown - benign g.42946654C>G g.42978916C>G - - GNMT_000006 - PubMed: Yik 2009 - - Germline - 0.02 - 0 - DNA SEQ - - PBD - PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.275_280del r.275_280del p.Val92_Arg93del Parent #1 - pathogenic (recessive) g.42946612_42946617del g.42978874_42978879del - - PEX6_000021 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-13 PubMed: Zhang 1999 - - - Japan - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.277C>G r.(?) p.(Arg93Gly) Parent #1 - pathogenic (recessive) g.42946612G>C - - - PEX6_000063 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.281C>A r.(?) p.(Ala94Glu) Parent #1 - pathogenic (recessive) g.42946608G>T - - - PEX6_000052 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat666 PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.283_288del r.283_288del p.Arg95_Ala96del Parent #1 - pathogenic (recessive) g.42946601_42946606del - 282_287del - PEX6_000017 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. - c.283_288del r.283_288del p.Arg95_Ala96del Parent #2 - pathogenic (recessive) g.42946601_42946606del - - - PEX6_000017 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
?/. - c.302C>G r.(?) p.(Pro101Arg) Unknown - VUS g.42946587G>C g.42978849G>C PEX6(NM_000287.3):c.302C>G (p.P101R) - GNMT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - VUS g.42946587G>A g.42978849G>A PEX6(NM_000287.3):c.302C>T (p.P101L) - GNMT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.311del r.(?) p.(Gly104Valfs*22) Parent #1 - pathogenic g.42946578del - 311delG - PEX6_000224 no variant 2nd chromosome reported MORL Deafness Variation Database, PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.311del r.(?) p.(Gly104Valfs*22) Parent #1 - pathogenic (recessive) g.42946578del - 311delG - PEX6_000051 no variant 2nd chromosome reported - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. - c.311del r.(?) p.(Gly104Valfs*22) Parent #2 - pathogenic (recessive) g.42946578del - 311delG - PEX6_000051 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD patient - - - - - - - 0 - - 1 Nancy Braverman
-/. - c.330C>G r.(=) p.(=) Parent #1 - benign g.42946559G>C - - - PEX6_000234 - PubMed: Konkolova 2015 - - 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.399G>T r.(?) p.(Val133=) Unknown - benign g.42946490C>A g.42978752C>A PEX6(NM_000287.3):c.399G>T (p.V133=) - PEX6_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.399G>T r.(=) p.(=) Both (homozygous) - benign g.42946490C>A - - - PEX6_000146 - PubMed: Konkolova 2015 - - 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.399G>T r.(?) p.(=) Parent #1 - benign g.42946490C>A - - - PEX6_000146 - PubMed: Steinberg 2004 - - Germline - 0.256 - 0 - DNA SEQ - - Healthy/Control controls PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
-/. - c.399G>T r.(?) p.(Val133=) Unknown - benign g.42946490C>A g.42978752C>A - - PEX6_000146 - PubMed: Yik 2009 - - Germline - 0.37 - 0 - DNA SEQ - - PBD - PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.402del r.402del p.Gly135Aspfs*23 Both (homozygous) - pathogenic (recessive) g.42946487del g.42978751del 402delC - PEX6_000023 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-12 PubMed: Zhang 1999 - - - Japan - - 0 - - 1 Nancy Braverman
-?/. - c.407C>A r.(?) p.(Pro136Gln) Unknown - likely benign g.42946482G>T g.42978744G>T PEX6(NM_000287.3):c.407C>A (p.P136Q) - PEX6_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.488G>C r.(?) p.(Arg163Pro) Parent #1 - likely pathogenic g.42946401C>G g.42978663C>G - - PEX6_000222 - MORL Deafness Variation Database, PubMed: Grunert 2014 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Grunert 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.500_501del r.(?) p.(Cys167Serfs*74) Parent #2 - pathogenic (recessive) g.42946388_42946389del - 499_500delTG - PEX6_000014 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. 1 c.510dup r.510dup p.Gly171Trpfs*71 Both (homozygous) - pathogenic (recessive) g.42946379dup g.42978641dup 511insT - PEX6_000007 - PubMed: Fukuda 1996, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat1/GM04340 PubMed: Fukuda 1996 - - yes Japan - - 0 - - 1 Nancy Braverman
+/. 1 c.517del r.(?) p.(Ser173Alafs*33) Parent #1 - pathogenic (recessive) g.42946372del - 517delA - PEX6_000008 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat675 PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.530del r.(?) p.(Pro177Hisfs*29) Parent #2 - pathogenic (recessive) g.42946359del - 530delC - PEX6_000022 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-13 PubMed: Zhang 1999 - - - Japan - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.531A>C r.(?) p.(Pro177=) Unknown - likely benign g.42946358T>G g.42978620T>G PEX6(NM_000287.3):c.531A>C (p.P177=) - PEX6_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.531A>C r.(?) p.(Pro177=) Unknown - likely benign g.42946358T>G g.42978620T>G PEX6(NM_000287.3):c.531A>C (p.P177=) - PEX6_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.557C>A r.(?) p.(Ala186Glu) Parent #1 - pathogenic (recessive) g.42946332G>T - - - PEX6_000064 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/+ 1 c.611C>G r.(?) p.(Ser204*) Parent #1 - pathogenic g.42946278G>C g.42978540G>C - - PEX6_000217 - MORL Deafness Variation Database, PubMed: Al-Gazali 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Al-Gazali 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.656A>C r.(?) p.(Gln219Pro) Both (homozygous) - pathogenic (recessive) g.42946233T>G - - - PEX6_000068 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.656del r.(?) p.(Gln219Argfs*27) Parent #1 - pathogenic (recessive) g.42946233del - 656delA - PEX6_000065 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.659G>T r.(?) p.(Gly220Val) Parent #1 - pathogenic (recessive) g.42946230C>A - - - PEX6_000066 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+?/+? 1 c.661G>T r.(?) p.(Glu221*) Parent #1 - likely pathogenic g.42946228C>A g.42978490C>A - - PEX6_000213 - MORL Deafness Variation Database, PubMed: Richards 2015 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.661G>T r.(?) p.(Glu221Ter) Parent #1 - likely pathogenic g.42946228C>A g.42978490C>A - - PEX6_000213 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs786205580 Germline - 10/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
?/. - c.685A>G r.(?) p.(Arg229Gly) Unknown - VUS g.42946204T>C g.42978466T>C PEX6(NM_000287.3):c.685A>G (p.R229G) - GNMT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.689_690del r.(?) p.(Glu230Valfs*11) Both (homozygous) - pathogenic (recessive) g.42946199_42946200del - 689_670delAG - PEX6_000069 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/+ 1 c.689_690dup r.(?) p.(Ser232Hisfs*15) Parent #1 - pathogenic g.42946203_42946204dup g.42978465_42978466dup - - PEX6_000212 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.689_690dup r.(?) p.(Ser232Hisfs*15) Both (homozygous) - pathogenic (recessive) g.42946199_42946200dup - 685_686insAG - PEX6_000046 - PubMed: Krause 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD-HR4 PubMed: Krause 2006 - F - Germany - - 0 - - 1 Nancy Braverman
+/. 1 c.689_690dup r.(?) p.(Ser232Hisfs*15) Both (homozygous) - pathogenic (recessive) g.42946199_42946200dup - 685_686insAG - PEX6_000046 - PubMed: Krause 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD-HR5 PubMed: Krause 2006 - M - Romania - - 0 - - 1 Nancy Braverman
+/+ 1 c.689_690insAG r.(?) p.(Ser231Glyfs*16) Parent #1 - pathogenic g.42946199_42946200insCT g.42978461_42978462insCT - - PEX6_000210 - MORL Deafness Variation Database, PubMed: Bean 2013 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Bean 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 1 c.691_692insAG r.(?) p.(Ser231*) Parent #1 - pathogenic g.42946197_42946198insCT g.42978459_42978460insCT - - PEX6_000209 - MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 1 c.727C>T r.727c>u p.Gln243* Parent #1 - pathogenic (recessive) g.42946162G>A g.42978424G>A - - PEX6_000028 no variant 2nd chromosome PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-07 PubMed: Zhang 1999 - - - Japan - - 0 - - 1 Nancy Braverman
?/. - c.740C>G r.(?) p.(Pro247Arg) Unknown - VUS g.42946149G>C - PEX6(NM_000287.3):c.740C>G (p.P247R) - GNMT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.802_815del r.(?) p.(Asp268Cysfs*8) Parent #1 - pathogenic g.42946078_42946091del g.42978340_42978353del - - PEX6_000207 - MORL Deafness Variation Database, PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.802_815del r.619_882del p.Val76_Gln294del Parent #2 - pathogenic (recessive) g.42946074_42946087del - 800-813del - PEX6_000002 - PubMed: Matsumoto 2001, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD6-01 PubMed: Matsumoto 2001 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 1 c.802_815del r.(?) p.(Asp268Cysfs*8) Parent #1 - pathogenic (recessive) g.42946074_42946087del - - - PEX6_000002 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.802_815del r.802_815del p.Asp268Cysfs*8 Parent #1 - pathogenic (recessive) g.42946074_42946087del - - - PEX6_000002 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. 1 c.802_815del r.802_815del p.Asp268Cysfs*8 Both (homozygous) - pathogenic (recessive) g.42946074_42946087del - - - PEX6_000002 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
-/. - c.813G>T r.(?) p.(Ala271=) Unknown - benign g.42946076C>A g.42978338C>A PEX6(NM_000287.3):c.813G>T (p.A271=) - PEX6_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.813G>T r.(=) p.(=) Parent #1 - benign g.42946076C>A - - - PEX6_000143 - PubMed: Steinberg 2004 - - Germline - 0.013 - 0 - DNA SEQ - - Healthy/Control controls PubMed: Steinberg 2004 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.813G>T r.(?) p.(Ala271=) Unknown - benign g.42946076C>A g.42978338C>A - - PEX6_000143 - PubMed: Yik 2009 - - Germline - 1/116 chromosomes - 0 - DNA SEQ - - PBD - PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.814_817dup r.(?) p.(Val273AlafsTer9) Unknown - pathogenic g.42946073_42946076dup g.42978335_42978338dup - - GNMT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.814_817dup r.814_817dup p.Val273Alafs*9 Both (homozygous) - pathogenic (recessive) g.42946073_42946076dup g.42978335_42978338dup 814insCTTG - PEX6_000024 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-15 PubMed: Zhang 1999 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 5 c.821C>T r.(?) p.(Pro274Leu) Parent #1 - pathogenic g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR1 Fam5PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - 2 Jamie Zeegers
+/. 5 c.821C>T r.(?) p.(Pro274Leu) Parent #1 - pathogenic g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR1 Fam5PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >16y 0 - - 1 Jamie Zeegers
+/. 5 c.821C>T r.(?) p.Pro274Leu Unknown - NA g.42946068G>A g.42978330G>A - - PEX6_000055 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.821C>T r.(?) p.(Pro274Leu) Parent #1 - pathogenic (recessive) g.42946068G>A - - - PEX6_000055 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat636 PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.821C>T r.(?) p.(Pro274Leu) Parent #2 - pathogenic (recessive) g.42946068G>A - - - PEX6_000055 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat675 PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.821C>T r.(?) p.(Pro274Leu) Parent #2 - pathogenic (recessive) g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat636 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.853C>G r.(?) p.(Pro285Ala) Unknown - likely benign g.42946036G>C g.42978298G>C PEX6(NM_000287.3):c.853C>G (p.P285A) - PEX6_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.853C>G r.(?) p.(Pro285Ala) Unknown - VUS g.42946036G>C g.42978298G>C PEX6(NM_000287.3):c.853C>G (p.P285A) - PEX6_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.853C>G r.(?) p.(Pro285Ala) Parent #2 - pathogenic (recessive) g.42946036G>C - PEX6_000010 - PEX6_000142 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. 1 c.856del r.(?) p.(Leu286Trpfs*65) Both (homozygous) - pathogenic (recessive) g.42946033del - 856delC - PEX6_000071 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.867del r.(?) p.(Glu290Serfs*61) Both (homozygous) - pathogenic (recessive) g.42946022del - 867delA - PEX6_000067 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.882+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.42946006C>T - IVS1+1G>A - PEX6_000056 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat636 PubMed: Steinberg 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 1i c.882+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.42946006C>T g.42978268C>T 541_542insT - PEX6_000056 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat636 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.883-3T>C r.spl? p.? Unknown - benign g.42942779A>G g.42975041A>G PEX6(NM_000287.3):c.883-3T>C - PEX6_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1i c.883-3T>C r.(?) p.(-) Parent #1 - benign g.42942779A>G - - - PEX6_000044 - PubMed: Ebberink 2010 - - Germline - 0.08 - 0 - DNA SEQ - - Healthy/Control - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. 1i c.883-2A>G r.[883_1046del,883_884del] p.? Both (homozygous) - pathogenic (recessive) g.42942778T>C g.42975040T>C IVS1-2A>G - PEX6_000029 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD C-09 PubMed: Zhang 1999 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 1i_3i c.(882+1_883-1)_(1130+1_1131-1)del r.(?) p.? Both (homozygous) - pathogenic (recessive) g.(42937726_42941740)_(42942777_42946006)del - 883_1130del - PEX6_000072 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 2 cases - - - - - 0 - - 2 Nancy Braverman
-?/. - c.903C>T r.(?) p.(Ile301=) Unknown - likely benign g.42942756G>A g.42975018G>A PEX6(NM_000287.3):c.903C>T (p.I301=) - PEX6_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.914del r.(?) p.(Asp305Alafs*46) Parent #1 - pathogenic (recessive) g.42942745del g.42975007del 914delA - PEX6_000058 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD Pat710 PubMed: Yik 2009 - - - United States - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.914del r.(?) p.(Asp305Alafs*46) Parent #1 - pathogenic (recessive) g.42942745del - 914delA - PEX6_000058 no variant 2nd chromosome reported - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
-?/. - c.925T>G r.(?) p.(Cys309Gly) Unknown - likely benign g.42942734A>C g.42974996A>C PEX6(NM_000287.3):c.925T>G (p.(Cys309Gly)) - GNMT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.988C>T r.(?) p.(His330Tyr) Unknown - likely benign g.42942671G>A g.42974933G>A PEX6(NM_000287.3):c.988C>T (p.H330Y) - GNMT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1027del r.(?) p.(Arg343GlyfsTer8) Unknown - pathogenic g.42942633del g.42974895del PEX6(NM_000287.3):c.1027delC (p.R343Gfs*8) - PEX6_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1027_1030dup r.(?) p.(His344Profs*42) Both (homozygous) - pathogenic (recessive) g.42942629_42942632dup - 1030_1033dupCCGG - PEX6_000019 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. 2i c.1047-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.42941826T>C g.42974088T>C - - PEX6_000201 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2i c.1047-1G>A r.spl? p.? Parent #1 - pathogenic g.42941825C>T g.42974087C>T - - PEX6_000200 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2i c.1047-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.42941825C>T - - - PEX6_000073 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 2 cases - - - - - 0 - - 2 Nancy Braverman
+/+ 3 c.1054C>T r.(?) p.(Gln352*) Parent #1 - pathogenic g.42941817G>A g.42974079G>A - - PEX6_000199 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.1054C>T r.1047_1130del p.Val350_Arg377del Parent #1 - pathogenic (recessive) g.42941817G>A - - - PEX6_000075 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
+/. 3i c.1130+1G>A r.1047_1130del p.Val350_Arg377del Parent #1 - pathogenic (recessive) g.42941740C>T g.42974002C>T - - PEX6_000076 no variant 2nd chromosome PubMed: Fukuda 1996, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD Pat2 PubMed: Fukuda 1996 - F - Japan - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3i c.1131-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.42937726C>G - - - PEX6_000077 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.1171G>A r.(?) p.(Glu391Lys) Unknown - VUS g.42937685C>T g.42969947C>T PEX6(NM_000287.3):c.1171G>A (p.E391K) - GNMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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