Unique variants in gene PEX6

Information The variants shown are described using the NM_000287.3 transcript reference sequence.

129 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 - 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 1 c.35T>C r.(?) p.(Phe12Ser) - pathogenic g.42946854A>G g.42979116A>G - - PEX6_000231 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.115_120del r.(?) p.(Ala39_Leu40del) - pathogenic g.42946772_42946777del g.42979034_42979039del - - PEX6_000230 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.170T>C r.(?) p.(Leu57Pro) - pathogenic g.42946719A>G g.42978981A>G - - PEX6_000229 - MORL Deafness Variation Database, PubMed: Imamura 2000 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.224dup r.(?) p.(Val76Glyfs*2) - pathogenic g.42946665dup g.42978927dup - - PEX6_000228 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.275_280del r.(?) p.(Val92_Arg93del) - pathogenic g.42946612_42946617del g.42978874_42978879del - - PEX6_000227 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.277C>G r.(?) p.(Arg93Gly) - pathogenic g.42946612G>C g.42978874G>C - - PEX6_000226 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.281C>A r.(?) p.(Ala94Glu) - pathogenic g.42946608G>T g.42978870G>T - - PEX6_000225 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 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
+/+ 1 1 c.311del r.(?) p.(Gly104Valfs*22) - pathogenic g.42946579del g.42978841del - - PEX6_000224 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 1 - c.399G>T r.(?) p.(Val133=) - 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 - - - - - VKGL-NL_Groningen
+/+ 1 1 c.402del r.(?) p.(Gly135Aspfs*23) - pathogenic g.42946489del g.42978751del - - PEX6_000223 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 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 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.510dup r.(?) p.(Gly171Trpfs*71) - pathogenic g.42946379dup g.42978641dup - - PEX6_000221 - MORL Deafness Variation Database, PubMed: Fukuda 1996 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.517del r.(?) p.(Ser173Alafs*33) - pathogenic g.42946372del g.42978634del - - PEX6_000220 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.530del r.(?) p.(Pro177Hisfs*29) - pathogenic g.42946363del g.42978625del - - PEX6_000219 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 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 g.42946332G>T g.42978594G>T - - PEX6_000218 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 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 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.656A>C r.(?) p.(Gln219Pro) - pathogenic g.42946233T>G g.42978495T>G - - PEX6_000216 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.656del r.(?) p.(Gln219Argfs*27) - pathogenic g.42946233del g.42978495del - - PEX6_000215 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.659G>T r.(?) p.(Gly220Val) - pathogenic g.42946230C>A g.42978492C>A - - PEX6_000214 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+?/+?, +?/. 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 SUMMARY record, Germline - 10/2795 individuals - - - GVsharedLOVD, 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 g.42946203_42946204del g.42978465_42978466del - - PEX6_000211 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.689_690dup r.(?) p.(Ser232Hisfs*15) - pathogenic g.42946203_42946204dup g.42978465_42978466dup - - PEX6_000212 - MORL Deafness Variation Database, PubMed: Krause 2006, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 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 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.691_692insAG r.(?) p.(Ser231*) - pathogenic g.42946197_42946198insCT g.42978459_42978460insCT - - PEX6_000209 - MORL Deafness Variation Database - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.727C>T r.(?) p.(Gln243*) - pathogenic g.42946162G>A g.42978424G>A - - PEX6_000208 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.802_815del r.(?) p.(Asp268Cysfs*8) - pathogenic g.42946078_42946091del g.42978340_42978353del - - PEX6_000207 - MORL Deafness Variation Database, PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 1 - c.813G>T r.(?) p.(Ala271=) - 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 - - - - - VKGL-NL_Rotterdam
+/., +/+ 2 1 c.814_817dup r.(?) p.(Val273AlafsTer9), p.(Val273Alafs*9) - pathogenic g.42946073_42946076dup g.42978335_42978338dup - - GNMT_000008 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Zhang 1999 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, GVsharedLOVD, with Curator vacancy
+/., +/+ 4 5, 1 c.821C>T r.(?) p.(Pro274Leu), p.Pro274Leu - pathogenic 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, 1 more item - - Germline, In vitro (cloned), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, GVsharedLOVD, with Curator vacancy
-?/., ?/. 2 - c.853C>G r.(?) p.(Pro285Ala) - likely benign, 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/+ 1 1 c.856del r.(?) p.(Leu286Trpfs*65) - pathogenic g.42946037del g.42978299del - - PEX6_000206 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1 c.867del r.(?) p.(Glu290Serfs*61) - pathogenic g.42946022del g.42978284del - - PEX6_000205 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 1i c.882+1G>A r.spl? p.? - pathogenic g.42946006C>T g.42978268C>T - - PEX6_000204 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 1 - c.883-3T>C r.spl? p.? - benign g.42942779A>G g.42975041A>G PEX6(NM_000287.3):c.883-3T>C - PEX6_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 1i c.883-2A>G r.spl? p.? - pathogenic g.42942778T>C g.42975040T>C - - PEX6_000203 - MORL Deafness Variation Database, PubMed: Zhang 1999, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 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
+/+ 1 2 c.914del r.(?) p.(Asp305Alafs*46) - pathogenic g.42942745del g.42975007del - - PEX6_000202 - MORL Deafness Variation Database, PubMed: Yik 2009 - - SUMMARY record - - - - - GVsharedLOVD, 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 2i c.1047-2A>G r.spl? p.? - pathogenic g.42941826T>C g.42974088T>C - - PEX6_000201 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 2i c.1047-1G>A r.spl? p.? - pathogenic g.42941825C>T g.42974087C>T - - PEX6_000200 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 3 c.1054C>T r.(?) p.(Gln352*) - pathogenic g.42941817G>A g.42974079G>A - - PEX6_000199 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 3i c.1130+1G>A r.spl? p.? - pathogenic g.42941740C>T g.42974002C>T - - PEX6_000198 - MORL Deafness Variation Database, PubMed: Fukuda 1996, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 3i c.1131-1G>C r.spl? p.? - pathogenic g.42937726C>G g.42969988C>G - - PEX6_000197 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 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 g.42937658A>T g.42969920A>T - - PEX6_000196 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+?/. 1 5 c.1238G>T r.(?) p.(Gly413Val) - - g.42937535C>A g.42969797C>A - - PEX6_000120 - under revision - - Germline yes - - - - Hanno Bolz
+/+ 1 5 c.1301del r.(?) p.(Ser434Phefs*16) - pathogenic g.42937472del g.42969734del - - PEX6_000195 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 5 c.1314_1321del r.(?) p.(Glu439Glyfs*3) - pathogenic g.42937458_42937465del g.42969720_42969727del - - PEX6_000194 - MORL Deafness Variation Database, PubMed: Krause 2009 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 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, SUMMARY record - 1/2786 individuals - - - Mohammed Faruq, GVsharedLOVD, with Curator vacancy
+/+ 1 5 c.1367+1del r.spl? p.(Gly457ValfsTer4) - pathogenic g.42937407del g.42969669del - - PEX6_000192 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 6 c.1404del r.(?) p.(Arg469Glyfs*11) - pathogenic g.42936687del g.42968949del - - PEX6_000191 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 6 c.1415dup r.(?) p.(Gly473Argfs*13) - pathogenic g.42936681dup g.42968943dup - - PEX6_000190 - MORL Deafness Variation Database, PubMed: Krause 2006 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 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 g.42936222del g.42968484del - - PEX6_000189 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-?/. 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 g.42936184A>C g.42968446A>C - - PEX6_000188 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 7 c.1553C>A r.(?) p.(Ala518Asp) - pathogenic g.42936163G>T g.42968425G>T - - PEX6_000187 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 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 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/., -/. 2 - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, 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
+/+ 1 7i c.1688+1G>A r.spl? p.? - pathogenic g.42936027C>T g.42968289C>T - - PEX6_000185 - MORL Deafness Variation Database, PubMed: Zhang 1999, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 7i c.1689-1G>T r.spl? p.? - pathogenic g.42935302C>A g.42967564C>A - - PEX6_000184 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 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 g.42935279C>T g.42967541C>T - - PEX6_000183 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 8 c.1715C>T r.(?) p.(Thr572Ile) - pathogenic g.42935275G>A g.42967537G>A - - PEX6_000182 - MORL Deafness Variation Database, PubMed: Raas-Rothschild 2002 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/., +?/+? 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, SUMMARY record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, GVsharedLOVD, with Curator vacancy
+/+ 1 8 c.1793_1794del r.(?) p.(Glu598Glyfs*63) - pathogenic g.42935198_42935199del g.42967460_42967461del - - PEX6_000181 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 8 c.1801C>T r.(?) p.(Arg601Trp) - pathogenic g.42935189G>A g.42967451G>A - - PEX6_000180 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 5 10, 8 c.1802G>A r.(?) p.(Arg601Gln), p.Arg601Gln ACMG pathogenic g.42935188C>T g.42967450C>T - - PEX6_000006, PEX6_000125 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.35) PubMed: Ratbi 2015, Journal: Ratbi 2015, MORL Deafness Variation Database, 1 more item - - Germline, In vitro (cloned), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, GVsharedLOVD, with Curator vacancy, Daniel Trujillano
+/+ 1 8 c.1814T>G r.(?) p.(Leu605Arg) - pathogenic g.42935176A>C g.42967438A>C - - PEX6_000179 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/., +/+ 4 11, 8 c.1841del r.(?) p.(Leu614Argfs*5), p.Leu614Argfs*5 - pathogenic g.42935149del g.42967411del - - PEX6_000124 cDNA expression cloning in PEX6 defective fibroblasts showed no complementation (0.00) PubMed: Ratbi 2015, Journal: Ratbi 2015, MORL Deafness Variation Database, PubMed: Ratbi 2015 - - Germline, In vitro (cloned), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, GVsharedLOVD, with Curator vacancy
+/., +/+ 4 12, 9 c.1930C>T r.(?) p.(Arg644Trp), p.Arg644Trp - pathogenic 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, MORL Deafness Variation Database, PubMed: Ratbi 2015 - - Germline, In vitro (cloned), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, GVsharedLOVD, with Curator vacancy
+/+ 1 9 c.1947del r.(?) p.(Ile650Serfs*10) - pathogenic g.42934535del g.42966797del - - PEX6_000178 - MORL Deafness Variation Database, PubMed: Krause 2009 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 9 c.1958C>G r.(?) p.(Ser653*) - pathogenic g.42934523G>C g.42966785G>C - - PEX6_000177 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
-/. 1 - c.1961+20G>A r.(=) p.(=) - benign g.42934500C>T g.42966762C>T PEX6(NM_000287.3):c.1961+20G>A - PEX6_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 9i c.1962-1G>A r.spl? p.? - pathogenic g.42934396C>T g.42966658C>T - - PEX6_000176 - MORL Deafness Variation Database, PubMed: Nobukuni 1996, PubMed: Lalwani 1998, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10 c.1992G>C r.(?) p.(Glu664Asp) - pathogenic g.42934365C>G g.42966627C>G - - PEX6_000175 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+?/+? 1 10 c.2048T>C r.(?) p.(Leu683Pro) - likely pathogenic g.42934309A>G g.42966571A>G - - PEX6_000174 - MORL Deafness Variation Database, PubMed: Krause 2009 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10i c.2094+2T>C r.spl? p.? - pathogenic g.42934261A>G g.42966523A>G - - PEX6_000173 - MORL Deafness Variation Database, PubMed: Raas-Rothschild 2002, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 10i c.2095-2A>G r.spl? p.? - pathogenic g.42934187T>C g.42966449T>C - - PEX6_000172 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+?/+? 1 11 c.2120T>G r.(?) p.(Val707Gly) - likely pathogenic g.42934160A>C g.42966422A>C - - PEX6_000171 - MORL Deafness Variation Database, PubMed: Krause 2009 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 1 - c.2137G>T r.(?) p.(Val713Leu) - VUS g.42934143C>A g.42966405C>A PEX6(NM_000287.3):c.2137G>T (p.V713L) - CNPY3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 11 c.2207_2217del r.(?) p.(Arg736Thrfs*21) - pathogenic g.42934063_42934073del g.42966325_42966335del - - PEX6_000170 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11 c.2225T>C r.(?) p.(Leu742Pro) - pathogenic g.42934055A>G g.42966317A>G - - PEX6_000169 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11i c.2300+28G>A r.(=) p.(=) - pathogenic g.42933952C>T g.42966214C>T - - PEX6_000168 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11i c.2301-15C>G r.(=) p.(=) - pathogenic g.42933858G>C g.42966120G>C - - PEX6_000167 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 11i c.2301-5C>G r.spl? p.? - pathogenic g.42933848G>C g.42966110G>C - - PEX6_000166 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
+/+ 1 12 c.2356C>T r.(?) p.(Arg786Trp) - pathogenic g.42933788G>A g.42966050G>A - - PEX6_000165 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
?/. 1 - c.2357G>A r.(?) p.(Arg786Gln) - VUS g.42933787C>T g.42966049C>T PEX6(NM_000287.3):c.2357G>A (p.(Arg786Gln)) - PEX6_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +/+ 2 12 c.2362G>A r.(?) p.(Val788Met) - pathogenic g.42933782C>T g.42966044C>T PEX6(NM_000287.3):c.2362G>A (p.V788M) - PEX6_000132 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Matsumoto 2001 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, GVsharedLOVD, with Curator vacancy
+/+ 1 13 c.2398_2417delinsT r.(?) p.(Ile800Serfs*16) - pathogenic g.42933473_42933492delinsA g.42965735_42965754delinsA - - PEX6_000164 - MORL Deafness Variation Database, PubMed: Yahraus 1996 - - SUMMARY record - - - - - GVsharedLOVD, with Curator vacancy
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