Unique variants in the PEX6 gene

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

151 entries on 2 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 3 c.1047-2 A>G r.(?) p.? - pathogenic (recessive) g.? - - - PEX6_000074 - PubMed: Ebberink 2010 - - Germline - - - - - Nancy Braverman
-/. 1 1 c.-55C>T r.(?) p.(=) - benign g.42946943G>A - - - PEX6_000042 - - - - Germline - 0.54 - - - Nancy Braverman
-/. 1 _1 - - - - benign g.42947192T>C - 304A>G - PEX6_000043 - - - - Germline - - - - - Nancy Braverman
+/. 3 1 c.10_69del r.(?) p.(Ala4_Leu23del) - pathogenic (recessive) g.42946820_42946879del - [10_69del;126_217del] - PEX6_000004 no variant 2nd chromosome reported PubMed: Ebberink 2010, {DBSubmBaltimore, USA 2006} - - Germline - - - - - Global Variome, with Curator vacancy, Nancy Braverman
-?/. 1 - c.25C>T r.(?) p.(Leu9=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.35T>C r.(?) p.(Phe12Ser) - pathogenic (recessive) g.42946854A>G - - - PEX6_000054 - PubMed: Steinberg 2004 - - Germline - - - - - Nancy Braverman
+/+, +/. 2 1 c.115_120del r.(?) p.(Ala39_Leu40del) - pathogenic, pathogenic (recessive) g.42946772_42946777del, g.42946769_42946774del g.42979034_42979039del 114_119delTGGCCCT - PEX6_000230, PEX6_000061 no variant 2nd chromosome reported MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Ebberink 2010 - - Germline - - - - - Global Variome, with Curator vacancy, Nancy Braverman
+/. 3 1 c.126_217del r.(?) p.(Gly44Thrfs*3) - pathogenic (recessive) g.42946672_42946763del - [10_69del;126_217del] - PEX6_000113 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
+/. 1 1 c.170T>C r.170u>c p.Leu57Pro - pathogenic (recessive) g.42946719A>G g.42978981A>G - - PEX6_000020 - PubMed: Imamura 2000, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
-/. 1 - c.210G>A r.(?) p.(Gly70=) - benign g.42946679C>T g.42978941C>T - - PEX6_000235 - PubMed: Yik 2009 - - Germline - 1/116 chromosomes - - - Johan den Dunnen
+/. 1 1 c.224dup r.(?) p.(Val76Glyfs*2) - pathogenic (recessive) g.42946665dup - 224dupT - PEX6_000062 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
-/. 2 1 c.235G>C r.(?) p.(Ala79Pro) - benign g.42946654C>G g.42978916C>G - - PEX6_000035, GNMT_000006 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - 0.026, 0.02 - - - Nancy Braverman, Johan den Dunnen
+/. 1 1 c.275_280del r.275_280del p.Val92_Arg93del - pathogenic (recessive) g.42946612_42946617del g.42978874_42978879del - - PEX6_000021 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 1 c.277C>G r.(?) p.(Arg93Gly) - pathogenic (recessive) g.42946612G>C - - - PEX6_000063 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - - - Nancy Braverman
+/. 1 1 c.281C>A r.(?) p.(Ala94Glu) - pathogenic (recessive) g.42946608G>T - - - PEX6_000052 - PubMed: Steinberg 2004 - - Germline - - - - - Nancy Braverman
+/. 2 1 c.283_288del r.283_288del p.Arg95_Ala96del - pathogenic (recessive) g.42946601_42946606del - 282_287del - PEX6_000017 - - - - Germline - - - - - Nancy Braverman
?/. 1 - c.302C>G r.(?) p.(Pro101Arg) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.302C>T r.(?) p.(Pro101Leu) - 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 - - - - - VKGL-NL_Rotterdam
+/. 3 1 c.311del r.(?) p.(Gly104Valfs*22) - pathogenic, pathogenic (recessive) g.42946578del - 311delG - PEX6_000224, PEX6_000051 no variant 2nd chromosome reported MORL Deafness Variation Database, PubMed: Ebberink 2010 - - Germline - - - - - Global Variome, with Curator vacancy, Nancy Braverman
-/. 1 - c.330C>G r.(=) p.(=) - benign g.42946559G>C - - - PEX6_000234 - PubMed: Konkolova 2015 - - Germline - - - - - Johan den Dunnen
-/. 4 - c.399G>T r.(?), r.(=) p.(Val133=), p.(=) - benign g.42946490C>A g.42978752C>A PEX6(NM_000287.3):c.399G>T (p.V133=) - PEX6_000146 VKGL data sharing initiative Nederland PubMed: Yik 2009, PubMed: Steinberg 2004, PubMed: Konkolova 2015 - - Germline, CLASSIFICATION record - 0.37, 0.256 - - - Johan den Dunnen, Nancy Braverman, VKGL-NL_Groningen
+/. 1 1 c.402del r.402del p.Gly135Aspfs*23 - pathogenic (recessive) g.42946487del g.42978751del 402delC - PEX6_000023 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
-?/. 1 - c.407C>A r.(?) p.(Pro136Gln) - 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 - - - - - VKGL-NL_Rotterdam
+?/+? 1 1 c.488G>C r.(?) p.(Arg163Pro) - likely pathogenic g.42946401C>G g.42978663C>G - - PEX6_000222 - MORL Deafness Variation Database, PubMed: Grunert 2014 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 - c.500_501del r.(?) p.(Cys167Serfs*74) - pathogenic (recessive) g.42946388_42946389del - 499_500delTG - PEX6_000014 - - - - Germline - - - - - Nancy Braverman
+/. 1 1 c.510dup r.510dup p.Gly171Trpfs*71 - pathogenic (recessive) g.42946379dup g.42978641dup 511insT - PEX6_000007 - PubMed: Fukuda 1996, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 1 c.517del r.(?) p.(Ser173Alafs*33) - pathogenic (recessive) g.42946372del - 517delA - PEX6_000008 - PubMed: Steinberg 2004 - - Germline - - - - - Nancy Braverman
+/. 1 - c.530del r.(?) p.(Pro177Hisfs*29) - pathogenic (recessive) g.42946359del - 530delC - PEX6_000022 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
-?/. 2 - c.531A>C r.(?) p.(Pro177=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 1 c.557C>A r.(?) p.(Ala186Glu) - pathogenic (recessive) g.42946332G>T - - - PEX6_000064 no variant 2nd chromosome reported PubMed: Ebberink 2010 - - Germline - - - - - Nancy Braverman
+/+ 1 1 c.611C>G r.(?) p.(Ser204*) - pathogenic g.42946278G>C g.42978540G>C - - PEX6_000217 - MORL Deafness Variation Database, PubMed: Al-Gazali 2010 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.656A>C r.(?) p.(Gln219Pro) - pathogenic (recessive) g.42946233T>G - - - PEX6_000068 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 1 c.656del r.(?) p.(Gln219Argfs*27) - pathogenic (recessive) g.42946233del - 656delA - PEX6_000065 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 1 c.659G>T r.(?) p.(Gly220Val) - pathogenic (recessive) g.42946230C>A - - - PEX6_000066 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+?/+?, +?/. 2 1 c.661G>T r.(?) p.(Glu221*), p.(Glu221Ter) - likely pathogenic g.42946228C>A g.42978490C>A - - PEX6_000213 10 heterozygous, no homozygous; Clinindb (India) MORL Deafness Variation Database, PubMed: Richards 2015, Faruq 2020, submtted - rs786205580 Germline - 10/2795 individuals - - - Global Variome, with Curator vacancy, Mohammed Faruq
?/. 1 - c.685A>G r.(?) p.(Arg229Gly) - 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 - - - - - VKGL-NL_AMC
+/. 1 1 c.689_690del r.(?) p.(Glu230Valfs*11) - pathogenic (recessive) g.42946199_42946200del - 689_670delAG - PEX6_000069 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/+, +/. 3 1 c.689_690dup r.(?) p.(Ser232Hisfs*15) - pathogenic, pathogenic (recessive) g.42946203_42946204dup, g.42946199_42946200dup g.42978465_42978466dup 685_686insAG - PEX6_000212, PEX6_000046 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Krause 2006 - - Germline - - - - - Global Variome, with Curator vacancy, Nancy Braverman
+/+ 1 1 c.689_690insAG r.(?) p.(Ser231Glyfs*16) - pathogenic g.42946199_42946200insCT g.42978461_42978462insCT - - PEX6_000210 - MORL Deafness Variation Database, PubMed: Bean 2013 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 1 c.691_692insAG r.(?) p.(Ser231*) - pathogenic g.42946197_42946198insCT g.42978459_42978460insCT - - PEX6_000209 - MORL Deafness Variation Database - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.727C>T r.727c>u p.Gln243* - pathogenic (recessive) g.42946162G>A g.42978424G>A - - PEX6_000028 no variant 2nd chromosome PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
?/. 1 - c.740C>G r.(?) p.(Pro247Arg) - VUS g.42946149G>C - PEX6(NM_000287.3):c.740C>G (p.P247R) - GNMT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+ 5 1 c.802_815del r.619_882del, r.(?), r.802_815del p.Val76_Gln294del, p.(Asp268Cysfs*8), p.Asp268Cysfs*8 - pathogenic (recessive), pathogenic g.42946074_42946087del, g.42946078_42946091del g.42978340_42978353del 800-813del - PEX6_000002, PEX6_000207 - PubMed: Matsumoto 2001, MORL Deafness Variation Database, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
-/. 3 - c.813G>T r.(?), r.(=) p.(Ala271=), p.(=) - benign g.42946076C>A g.42978338C>A PEX6(NM_000287.3):c.813G>T (p.A271=) - PEX6_000143 VKGL data sharing initiative Nederland PubMed: Yik 2009, PubMed: Steinberg 2004 - - Germline, CLASSIFICATION record - 1/116 chromosomes, 0.013 - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 2 1 c.814_817dup r.(?), r.814_817dup p.(Val273AlafsTer9), p.Val273Alafs*9 - pathogenic, pathogenic (recessive) g.42946073_42946076dup g.42978335_42978338dup 814insCTTG - GNMT_000008, PEX6_000024 VKGL data sharing initiative Nederland PubMed: Zhang 1999, MORL Deafness Variation Database - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Nancy Braverman
+/. 6 5, 1 c.821C>T r.(?) p.(Pro274Leu), p.Pro274Leu - pathogenic (recessive), pathogenic, NA g.42946068G>A g.42978330G>A - - PEX6_000055 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05) PubMed: Steinberg 2004, PubMed: Ratbi 2015, Journal: Ratbi 2015, PubMed: Yik 2009 - - Germline, In vitro (cloned) yes - - - - Nancy Braverman, Jamie Zeegers, Johan den Dunnen
+/., -?/., ?/. 3 - c.853C>G r.(?) p.(Pro285Ala) - pathogenic (recessive), likely benign, VUS g.42946036G>C g.42978298G>C PEX6_000010, PEX6(NM_000287.3):c.853C>G (p.P285A) - PEX6_000142 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Nancy Braverman, VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/. 1 1 c.856del r.(?) p.(Leu286Trpfs*65) - pathogenic (recessive) g.42946033del - 856delC - PEX6_000071 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 1 c.867del r.(?) p.(Glu290Serfs*61) - pathogenic (recessive) g.42946022del - 867delA - PEX6_000067 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 2 1i c.882+1G>A r.spl p.? - pathogenic (recessive) g.42946006C>T g.42978268C>T IVS1+1G>A, 541_542insT - PEX6_000056 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Johan den Dunnen
-/. 2 1i c.883-3T>C r.spl?, r.(?) p.?, p.(-) - benign g.42942779A>G g.42975041A>G PEX6(NM_000287.3):c.883-3T>C - PEX6_000141, PEX6_000044 VKGL data sharing initiative Nederland PubMed: Ebberink 2010 - - CLASSIFICATION record, Germline - 0.08 - - - VKGL-NL_Groningen, Nancy Braverman
+/. 1 1i c.883-2A>G r.[883_1046del,883_884del] p.? - pathogenic (recessive) g.42942778T>C g.42975040T>C IVS1-2A>G - PEX6_000029 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1i_3i c.(882+1_883-1)_(1130+1_1131-1)del r.(?) p.? - pathogenic (recessive) g.(42937726_42941740)_(42942777_42946006)del - 883_1130del - PEX6_000072 - PubMed: Ebberink 2010 - - Germline - - - - - Nancy Braverman
-?/. 1 - c.903C>T r.(?) p.(Ile301=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 2 c.914del r.(?) p.(Asp305Alafs*46) - pathogenic (recessive) g.42942745del g.42975007del 914delA - PEX6_000058 no variant 2nd chromosome reported PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
-?/. 1 - c.925T>G r.(?) p.(Cys309Gly) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.988C>T r.(?) p.(His330Tyr) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1027del r.(?) p.(Arg343GlyfsTer8) - pathogenic g.42942633del g.42974895del PEX6(NM_000287.3):c.1027delC (p.R343Gfs*8) - PEX6_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 3 c.1027_1030dup r.(?) p.(His344Profs*42) - pathogenic (recessive) g.42942629_42942632dup - 1030_1033dupCCGG - PEX6_000019 - - - - Germline - - - - - Nancy Braverman
+/. 1 2i c.1047-2A>G r.spl p.? - pathogenic (recessive) g.42941826T>C g.42974088T>C - - PEX6_000201 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Global Variome, with Curator vacancy
+/., +/+ 2 2i c.1047-1G>A r.spl, r.spl? p.? - pathogenic (recessive), pathogenic g.42941825C>T g.42974087C>T - - PEX6_000073, PEX6_000200 - PubMed: Ebberink 2010, MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/., +/+ 2 3 c.1054C>T r.1047_1130del, r.(?) p.Val350_Arg377del, p.(Gln352*) - pathogenic (recessive), pathogenic g.42941817G>A g.42974079G>A - - PEX6_000075, PEX6_000199 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
+/. 1 3i c.1130+1G>A r.1047_1130del p.Val350_Arg377del - pathogenic (recessive) g.42941740C>T g.42974002C>T - - PEX6_000076 no variant 2nd chromosome PubMed: Fukuda 1996, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 3i c.1131-1G>C r.spl p.? - pathogenic (recessive) g.42937726C>G - - - PEX6_000077 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
?/. 1 - c.1171G>A r.(?) p.(Glu391Lys) - 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 - - - - - VKGL-NL_AMC
+/. 1 4 c.1198T>A r.(?) p.(Tyr400Asn) - pathogenic (recessive) g.42937658A>T - - - PEX6_000078 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+?/. 1 5 c.1238G>T r.(?) p.(Gly413Val) - likely pathogenic g.42937535C>A g.42969797C>A - - PEX6_000120 - under revision - - Germline yes - - - - Hanno Bolz
+/. 1 5 c.1301del r.1301del p.Ser434Phefs*16 - pathogenic (recessive) g.42937472del g.42969734del 1301delC - PEX6_000030 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 - c.1314_1320del r.(?) p.(Glu439Trpfs*9) - pathogenic (recessive) g.42937453_42937459del - - - PEX6_000011 - - - - Germline - - - - - Nancy Braverman
+/. 1 5 c.1314_1321del r.(?) p.(Glu439Glyfs*3) - pathogenic (recessive) g.42937452_42937459del - 1314_1321delGGAGGCCT - PEX6_000079 - PubMed: Krause 2009 - - Germline - - - - - Nancy Braverman
+/., +/+ 2 5 c.1338_1339del r.(?) p.(Ala447Cysfs*17) - pathogenic g.42937436_42937437del g.42969698_42969699del - - PEX6_000233, PEX6_000193 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted, MORL Deafness Variation Database, PubMed: Bean 2013 - rs398123303 Germline - 1/2786 individuals - - - Mohammed Faruq, Global Variome, with Curator vacancy
+/. 1 5i c.1367+1del r.spl p.? - pathogenic (recessive) g.42937405del - 1367+1delG - PEX6_000080 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 6 c.1404del r.(?) p.(Arg469Glyfs*11) - pathogenic (recessive) g.42936687del - 1404delA - PEX6_000081 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 6 c.1415dup r.(?) p.(Gly473Argfs*13) - pathogenic (recessive) g.42936676dup - 1415dupC - PEX6_000082 - PubMed: Krause 2006 - - Germline - - - - - Nancy Braverman
-/. 1 - c.1480-5C>T r.spl? p.? - benign g.42936241G>A g.42968503G>A PEX6(NM_000287.3):c.1480-5C>T - CNPY3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.1495del r.(?) p.(Leu499Serfs*49) - pathogenic (recessive) g.42936221del - 1495delC - PEX6_000083 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
-?/. 1 - c.1509T>C r.(?) p.(Ser503=) - likely benign g.42936207A>G g.42968469A>G PEX6(NM_000287.3):c.1509T>C (p.S503=) - PEX6_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.1532T>G r.(?) p.(Leu511Arg) - pathogenic (recessive) g.42936184A>C - - - PEX6_000084 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 7 c.1553C>A r.(?) p.(Ala518Asp) - pathogenic (recessive) g.42936163G>T - - - PEX6_000085 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
?/. 1 - c.1565G>C r.(?) p.(Arg522Pro) - VUS g.42936151C>G g.42968413C>G PEX6(NM_000287.3):c.1565G>C (p.R522P) - CNPY3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.1601T>C r.(?) p.(Leu534Pro) - pathogenic g.42936115A>G g.42968377A>G - - PEX6_000186 - MORL Deafness Variation Database, PubMed: Najmabadi 2011 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.1607G>A r.(?) p.(Arg536Gln) - VUS g.42936109C>T - PEX6(NM_000287.3):c.1607G>A (p.R536Q) - CNPY3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -/. 4 7 c.1646C>T r.(?) p.(Ala549Val) - VUS, benign g.42936070G>A g.42968332G>A PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val)) - PEX6_000138, PEX6_000059 VKGL data sharing initiative Nederland PubMed: Yik 2009, MORL Deafness Variation Database - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Nancy Braverman, Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.1680C>T r.(?) p.(Pro560=) - likely benign g.42936036G>A g.42968298G>A PEX6(NM_000287.3):c.1680C>T (p.P560=) - PEX6_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 7i c.1688+1G>A r.[1480_1866del,1368_1866del] p.? - pathogenic (recessive) g.42936027C>T g.42978625del, g.42968289C>T - - PEX6_000025 - PubMed: Zhang 1999, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 1 7i c.1689-1G>T r.spl p.? - pathogenic (recessive) g.42935302C>A - - - PEX6_000086 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
?/. 1 - c.1706T>C r.(?) p.(Val569Ala) - VUS g.42935284A>G g.42967546A>G PEX6(NM_000287.3):c.1706T>C (p.V569A) - PEX6_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 8 c.1711G>A r.(?) p.(Ala571Thr) - pathogenic (recessive) g.42935279C>T - - - PEX6_000087 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/., +/+? 3 8 c.1715C>T r.(?), r.1715c>u p.(Thr572Ile), p.Thr572Ile ACMG pathogenic, pathogenic (recessive) g.42935275G>A g.42967537G>A - - PEX6_000182, PEX6_000031 - PubMed: Sharon 2019, PubMed: Raas-Rothschild 2002, MORL Deafness Variation Database - - Germline yes 3/2420 IRD families - - - Global Variome, with Curator vacancy, Nancy Braverman
?/., +?/+? 3 8 c.1718C>T r.(?) p.(Thr573Ile) - VUS, likely pathogenic g.42935272G>A g.42967534G>A PEX6(NM_000287.3):c.1718C>T (p.T573I) - PEX6_000135 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Grunert 2014 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, Global Variome, with Curator vacancy
+/. 1 8 c.1793_1794del r.(?) p.(Glu598Glyfs*63) - pathogenic (recessive) g.42935196_42935197del - 1793_1794delAG - PEX6_000088 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 3 8 c.1801C>T r.(?), r.1801c>u p.(Arg601Trp), p.Arg601Trp - pathogenic (recessive) g.42935189G>A g.42967451G>A - - PEX6_000018 no variant 2nd chromosome reported {Baltimore 2006:Braverman}, MORL Deafness Variation Database, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy
-/., +/. 10 8, 10 c.1802G>A r.(?) p.(Arg601Gln), p.Arg601Gln ACMG benign, pathogenic (recessive), pathogenic, NA g.42935188C>T g.42967450C>T - - PEX6_000006, PEX6_000125 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.35) PubMed: Yik 2009, PubMed: Ratbi 2015, Journal: Ratbi 2015, Trujillano et al., submitted, 1 more item - - Germline, In vitro (cloned) yes 0.03 - - - Johan den Dunnen, Nancy Braverman, Jamie Zeegers, Daniel Trujillano
+/. 1 8 c.1814T>G r.(?) p.(Leu605Arg) - pathogenic (recessive) g.42935176A>C - - - PEX6_000089 - PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
+/. 3 11 c.1841del r.(?) p.(Leu614Argfs*5), p.Leu614Argfs*5 - pathogenic, NA g.42935149del g.42967411del - - PEX6_000124 cDNA expression cloning in PEX6 defective fibroblasts showed no complementation (0.00) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline, In vitro (cloned) yes - - - - Jamie Zeegers, Johan den Dunnen
+/. 3 12 c.1930C>T r.(?) p.(Arg644Trp), p.Arg644Trp - pathogenic, NA g.42934551G>A g.42966813G>A - - PEX6_000123 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.25) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline, In vitro (cloned) yes - - - - Jamie Zeegers, Johan den Dunnen
+/. 1 9 c.1947del r.(?) p.(Ile650Serfs*10) - pathogenic (recessive) g.42934534del - 1946delG - PEX6_000090 - PubMed: Krause 2009 - - Germline - - - - - Nancy Braverman
+/. 1 9 c.1958C>G r.(?) p.(Ser653*) - pathogenic (recessive) g.42934523G>C - - - PEX6_000091 no variant 2nd chromosome reported PubMed: Ebberink 2010, MORL Deafness Variation Database - - Germline - - - - - Nancy Braverman
-/. 2 9 c.1961+20G>A r.(=) p.(=) - benign g.42934500C>T g.42966762C>T PEX6(NM_000287.3):c.1961+20G>A - PEX6_000045, PEX6_000134 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - 0.16 - - - Nancy Braverman, VKGL-NL_Groningen
+/., +/+ 3 9i c.1962-1G>A r.1962_1969del, r.spl?, r.spl p.Leu655Trpfs*4, p.? - pathogenic (recessive), pathogenic g.42934396C>T g.42966658C>T - - PEX6_000034, PEX6_000176 - PubMed: Yahraus 1996, PubMed: Yik 2009, MORL Deafness Variation Database, 1 more item - - Germline - - - - - Nancy Braverman, Global Variome, with Curator vacancy, Johan den Dunnen
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