Full data view for gene PEX6

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

156 entries on 2 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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.25C>T r.(?) p.(=) Unknown - likely benign g.42946864G>A - PEX6(NM_000287.3):c.25C>T (p.L9=) - GNMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.35T>C r.(?) p.(Phe12Ser) Parent #1 - pathogenic g.42946854A>G - - - PEX6_000231 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.112_117del r.(?) p.(Ala39_Leu40del) Parent #1 - pathogenic g.42946772_42946777del - - - PEX6_000230 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.170T>C r.(?) p.(Leu57Pro) Parent #1 - pathogenic g.42946719A>G - - - PEX6_000229 - MORL Deafness Variation Database, PubMed: Imamura 2000 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Imamura 2000 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.224dup r.(?) p.(Val76Glyfs*2) Parent #1 - pathogenic g.42946665dup - - - PEX6_000228 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.272_277del r.(?) p.(Val92_Arg93del) Parent #1 - pathogenic g.42946612_42946617del - - - PEX6_000227 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.277C>G r.(?) p.(Arg93Gly) Parent #1 - pathogenic g.42946612G>C - - - PEX6_000226 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.281C>A r.(?) p.(Ala94Glu) Parent #1 - pathogenic g.42946608G>T - - - PEX6_000225 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.302C>G r.(?) p.(Pro101Arg) Unknown - VUS g.42946587G>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 - PEX6(NM_000287.3):c.302C>T (p.P101L) - GNMT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.310del r.(?) p.(Gly104Valfs*22) Parent #1 - pathogenic g.42946579del - - - PEX6_000224 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.399G>T r.(?) p.(=) Unknown - benign g.42946490C>A - PEX6(NM_000287.3):c.399G>T (p.V133=) - PEX6_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.400del r.(?) p.(Gly135Aspfs*23) Parent #1 - pathogenic g.42946489del - - - PEX6_000223 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.407C>A r.(?) p.(Pro136Gln) Unknown - likely benign g.42946482G>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 - - - PEX6_000222 - MORL Deafness Variation Database, PubMed: Grunert 2014 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Grunert 2014 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.510dup r.(?) p.(Gly171Trpfs*71) Parent #1 - pathogenic g.42946379dup - - - PEX6_000221 - MORL Deafness Variation Database, PubMed: Fukuda 1996 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Fukuda 1996 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.517del r.(?) p.(Ser173Alafs*33) Parent #1 - pathogenic g.42946372del - - - PEX6_000220 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.526del r.(?) p.(Pro177Hisfs*29) Parent #1 - pathogenic g.42946363del - - - PEX6_000219 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.531A>C r.(?) p.(=) Unknown - likely benign g.42946358T>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.(=) Unknown - likely benign g.42946358T>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 g.42946332G>T - - - PEX6_000218 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.611C>G r.(?) p.(Ser204*) Parent #1 - pathogenic g.42946278G>C - - - PEX6_000217 - MORL Deafness Variation Database, PubMed: Al-Gazali 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Al-Gazali 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.656A>C r.(?) p.(Gln219Pro) Parent #1 - pathogenic g.42946233T>G - - - PEX6_000216 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.656del r.(?) p.(Gln219Argfs*27) Parent #1 - pathogenic g.42946233del - - - PEX6_000215 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.659G>T r.(?) p.(Gly220Val) Parent #1 - pathogenic g.42946230C>A - - - PEX6_000214 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 1 c.661G>T r.(?) p.(Glu221*) Parent #1 - likely pathogenic g.42946228C>A - - - PEX6_000213 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Richards 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. - c.661G>T - - Unknown - - g.42946228C>A g.42978490C>A - - PEX6_000213 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs786205580 Germline - 10/2785 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 - PEX6(NM_000287.3):c.685A>G (p.R229G) - GNMT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.685_686del r.(?) p.(Glu230Valfs*11) Parent #1 - pathogenic g.42946203_42946204del - - - PEX6_000211 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.685_686dup r.(?) p.(Ser232Hisfs*15) Parent #1 - pathogenic g.42946203_42946204dup - - - PEX6_000212 - MORL Deafness Variation Database, PubMed: Krause 2006, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Krause 2006, PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.689_690insAG r.(?) p.(Ser231Glyfs*16) Parent #1 - pathogenic g.42946199_42946200insCT - - - PEX6_000210 - MORL Deafness Variation Database, PubMed: Bean 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Bean 2013 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.691_692insAG r.(?) p.(Ser231*) Parent #1 - pathogenic g.42946197_42946198insCT - - - PEX6_000209 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - DNA ? - - PBD - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.727C>T r.(?) p.(Gln243*) Parent #1 - pathogenic g.42946162G>A - - - PEX6_000208 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.798_811del r.(?) p.(Asp268Cysfs*8) Parent #1 - pathogenic g.42946078_42946091del - - - PEX6_000207 - MORL Deafness Variation Database, PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.813G>T r.(?) p.(=) Unknown - benign g.42946076C>A - PEX6(NM_000287.3):c.813G>T (p.A271=) - PEX6_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.813_816dup r.(?) p.(Val273Alafs*9) Parent #1 - pathogenic g.42946073_42946076dup - - - GNMT_000008 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. - c.814_817dup r.(?) p.(Val273Alafs*9) Unknown - pathogenic g.42946073_42946076dup - - - GNMT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.821C>T r.(?) p.(Pro274Leu) Parent #1 - - g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-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 - - g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-Fam5PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >16y 0 - - 1 Jamie Zeegers
+/. 5 c.821C>T - p.Pro274Leu Unknown - - 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 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.821C>T r.(?) p.(Pro274Leu) Parent #1 - pathogenic g.42946068G>A - - - PEX6_000055 - MORL Deafness Variation Database, PubMed: Ratbi 2015, PubMed: Steinberg 2004 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ratbi 2015, PubMed: Steinberg 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1 c.852del r.(?) p.(Leu286Trpfs*65) Parent #1 - pathogenic g.42946037del - - - PEX6_000206 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.853C>G r.(?) p.(Pro285Ala) Unknown - likely benign g.42946036G>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 - PEX6(NM_000287.3):c.853C>G (p.P285A) - PEX6_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.867del r.(?) p.(Glu290Serfs*61) Parent #1 - pathogenic g.42946022del - - - PEX6_000205 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 1i c.882+1G>A r.spl? p.? Parent #1 - pathogenic g.42946006C>T - - - PEX6_000204 - MORL Deafness Variation Database, PubMed: Steinberg 2004 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Steinberg 2004 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.883-3T>C r.spl? p.? Unknown - benign g.42942779A>G - PEX6(NM_000287.3):c.883-3T>C - PEX6_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i c.883-2A>G r.spl? p.? Parent #1 - pathogenic g.42942778T>C - - - PEX6_000203 - MORL Deafness Variation Database, PubMed: Zhang 1999, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.903C>T r.(?) p.(=) Unknown - likely benign g.42942756G>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 g.42942745del - - - PEX6_000202 - MORL Deafness Variation Database, PubMed: Yik 2009 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Yik 2009 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.925T>G r.(?) p.(Cys309Gly) Unknown - likely benign g.42942734A>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 - PEX6(NM_000287.3):c.988C>T (p.H330Y) - GNMT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1027del r.(?) p.(Arg343Glyfs*8) Unknown - pathogenic g.42942633del - PEX6(NM_000287.3):c.1027delC (p.R343Gfs*8) - PEX6_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.1047-2A>G r.spl? p.? Parent #1 - pathogenic g.42941826T>C - - - PEX6_000201 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 2i c.1047-1G>A r.spl? p.? Parent #1 - pathogenic g.42941825C>T - - - PEX6_000200 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 3 c.1054C>T r.(?) p.(Gln352*) Parent #1 - pathogenic g.42941817G>A - - - PEX6_000199 - MORL Deafness Variation Database, PubMed: Ebberink 2010, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 3i c.1130+1G>A r.spl? p.? Parent #1 - pathogenic g.42941740C>T - - - PEX6_000198 - MORL Deafness Variation Database, PubMed: Fukuda 1996, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Fukuda 1996, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 3i c.1131-1G>C r.spl? p.? Parent #1 - pathogenic g.42937726C>G - - - PEX6_000197 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1171G>A r.(?) p.(Glu391Lys) Unknown - VUS g.42937685C>T - PEX6(NM_000287.3):c.1171G>A (p.E391K) - GNMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.1198T>A r.(?) p.(Tyr400Asn) Parent #1 - pathogenic g.42937658A>T - - - PEX6_000196 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. 5 c.1238G>T r.(?) p.(Gly413Val) Both (homozygous) - - g.42937535C>A g.42969797C>A - - PEX6_000120 - under revision - - Germline yes - - 0 - DNA SEQ-NG-I blood - PBD - article in revision at "Human Mutation" - - yes Egypt - - 0 - - 2 Hanno Bolz
+/+ 5 c.1301del r.(?) p.(Ser434Phefs*16) Parent #1 - pathogenic g.42937472del - - - PEX6_000195 - MORL Deafness Variation Database, PubMed: Zhang 1999 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 5 c.1308_1315del r.(?) p.(Glu439Glyfs*3) Parent #1 - pathogenic g.42937458_42937465del - - - PEX6_000194 - MORL Deafness Variation Database, PubMed: Krause 2009 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Krause 2009 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 5 c.1336_1337del r.(?) p.(Ala447Cysfs*17) Parent #1 - pathogenic g.42937436_42937437del - - - PEX6_000193 - MORL Deafness Variation Database, PubMed: Bean 2013 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Bean 2013 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. - c.1338_1339del r.(?) p.(Ala447Cysfs*17) Unknown - - g.42937434_42937435del - - - PEX6_000233 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123303 Germline - 1/2785 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/+ 5 c.1366del r.spl? p.? Parent #1 - pathogenic g.42937407del - - - PEX6_000192 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 6 c.1404del r.(?) p.(Arg469Glyfs*11) Parent #1 - pathogenic g.42936687del - - - PEX6_000191 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 6 c.1410dup r.(?) p.(Gly473Argfs*13) Parent #1 - pathogenic g.42936681dup - - - PEX6_000190 - MORL Deafness Variation Database, PubMed: Krause 2006 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Krause 2006 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.1480-5C>T r.spl? p.? Unknown - benign g.42936241G>A - PEX6(NM_000287.3):c.1480-5C>T - CNPY3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1494del r.(?) p.(Leu499Serfs*49) Parent #1 - pathogenic g.42936222del - - - PEX6_000189 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.1509T>C r.(?) p.(=) Unknown - likely benign g.42936207A>G - PEX6(NM_000287.3):c.1509T>C (p.S503=) - PEX6_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1532T>G r.(?) p.(Leu511Arg) Parent #1 - pathogenic g.42936184A>C - - - PEX6_000188 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 7 c.1553C>A r.(?) p.(Ala518Asp) Parent #1 - pathogenic g.42936163G>T - - - PEX6_000187 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1565G>C r.(?) p.(Arg522Pro) Unknown - VUS g.42936151C>G - PEX6(NM_000287.3):c.1565G>C (p.R522P) - CNPY3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1601T>C r.(?) p.(Leu534Pro) Parent #1 - pathogenic g.42936115A>G - - - PEX6_000186 - MORL Deafness Variation Database, PubMed: Najmabadi 2011 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Najmabadi 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1646C>T r.(?) p.(Ala549Val) Unknown - VUS g.42936070G>A - PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val)) - PEX6_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1646C>T r.(?) p.(Ala549Val) Unknown - benign g.42936070G>A - PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val)) - PEX6_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1680C>T r.(?) p.(=) Unknown - likely benign g.42936036G>A - PEX6(NM_000287.3):c.1680C>T (p.P560=) - PEX6_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7i c.1688+1G>A r.spl? p.? Parent #1 - pathogenic g.42936027C>T - - - PEX6_000185 - MORL Deafness Variation Database, PubMed: Zhang 1999, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Zhang 1999, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 7i c.1689-1G>T r.spl? p.? Parent #1 - pathogenic g.42935302C>A - - - PEX6_000184 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1706T>C r.(?) p.(Val569Ala) Unknown - VUS g.42935284A>G - PEX6(NM_000287.3):c.1706T>C (p.V569A) - PEX6_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1711G>A r.(?) p.(Ala571Thr) Parent #1 - pathogenic g.42935279C>T - - - PEX6_000183 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.1715C>T r.(?) p.(Thr572Ile) Parent #1 - pathogenic g.42935275G>A - - - PEX6_000182 - MORL Deafness Variation Database, PubMed: Raas-Rothschild 2002 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Raas-Rothschild 2002 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1718C>T r.(?) p.(Thr573Ile) Unknown - VUS g.42935272G>A - PEX6(NM_000287.3):c.1718C>T (p.T573I) - PEX6_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1718C>T r.(?) p.(Thr573Ile) Unknown - VUS g.42935272G>A - PEX6(NM_000287.3):c.1718C>T (p.T573I) - PEX6_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.1718C>T r.(?) p.(Thr573Ile) Parent #1 - likely pathogenic g.42935272G>A - - - PEX6_000135 - MORL Deafness Variation Database, PubMed: Grunert 2014 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Grunert 2014 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.1791_1792del r.(?) p.(Glu598Glyfs*63) Parent #1 - pathogenic g.42935198_42935199del - - - PEX6_000181 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.1801C>T r.(?) p.(Arg601Trp) Parent #1 - pathogenic g.42935189G>A - - - PEX6_000180 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 10 c.1802G>A r.(?) p.(Arg601Gln) Parent #1 - - g.42935188C>T g.42967450C>T - - PEX6_000006 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-Fam6PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, twin sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - 2 Jamie Zeegers
+/. 10 c.1802G>A r.(?) p.(Arg601Gln) Parent #1 - - g.42935188C>T g.42967450C>T - - PEX6_000006 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-Fam6PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >21y 0 - - 1 Jamie Zeegers
+/. - c.1802G>A r.(?) p.(Arg601Gln) Both (homozygous) ACMG pathogenic g.42935188C>T g.42967450C>T - - PEX6_000125 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - PBD-4A - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. 10 c.1802G>A - p.Arg601Gln Unknown - - g.42935188C>T g.42967450C>T - - PEX6_000006 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.35) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1802G>A r.(?) p.(Arg601Gln) Parent #1 - pathogenic g.42935188C>T - - - PEX6_000006 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - DNA ? - - - - - - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 8 c.1814T>G r.(?) p.(Leu605Arg) Parent #1 - pathogenic g.42935176A>C - - - PEX6_000179 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - DNA ? - - PBD - PubMed: Ebberink 2010 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 11 c.1841del r.(?) p.(Leu614Argfs*5) Parent #2 - - g.42935149del g.42967411del - - PEX6_000124 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-Fam6PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, twin sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - 2 Jamie Zeegers
+/. 11 c.1841del r.(?) p.(Leu614Argfs*5) Parent #2 - - g.42935149del g.42967411del - - PEX6_000124 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-Fam6PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >21y 0 - - 1 Jamie Zeegers
+/. 11 c.1841del - p.Leu614Argfs*5 Unknown - - g.42935149del g.42967411del - - PEX6_000124 cDNA expression cloning in PEX6 defective fibroblasts showed no complementation (0.00) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1841del r.(?) p.(Leu614Argfs*5) Parent #1 - pathogenic g.42935149del - - - PEX6_000124 - MORL Deafness Variation Database, PubMed: Ratbi 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Ratbi 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 12 c.1930C>T r.(?) p.(Arg644Trp) Parent #2 - - g.42934551G>A g.42966813G>A - - PEX6_000123 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-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
+/. 12 c.1930C>T r.(?) p.(Arg644Trp) Parent #2 - - g.42934551G>A g.42966813G>A - - PEX6_000123 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMLR-1 26387595-Fam5PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >16y 0 - - 1 Jamie Zeegers
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