Unique variants in gene PEX6

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

126 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 likely benign r.(?) p.(=) g.42946864G>A - PEX6(NM_000287.3):c.25C>T (p.L9=) - GNMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.35T>C Pathogenic r.(?) p.(Phe12Ser) g.42946854A>G - - - PEX6_000231 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.112_117del Pathogenic r.(?) p.(Ala39_Leu40del) g.42946772_42946777del - - - PEX6_000230 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.170T>C Pathogenic r.(?) p.(Leu57Pro) g.42946719A>G - - - PEX6_000229 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.224dup Pathogenic r.(?) p.(Val76Glyfs*2) g.42946665dup - - - PEX6_000228 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.272_277del Pathogenic r.(?) p.(Val92_Arg93del) g.42946612_42946617del - - - PEX6_000227 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.277C>G Pathogenic r.(?) p.(Arg93Gly) g.42946612G>C - - - PEX6_000226 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.281C>A Pathogenic r.(?) p.(Ala94Glu) g.42946608G>T - - - PEX6_000225 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.302C>T VUS r.(?) p.(Pro101Leu) g.42946587G>A - PEX6(NM_000287.3):c.302C>T (p.P101L) - GNMT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.310del Pathogenic r.(?) p.(Gly104Valfs*22) g.42946579del - - - PEX6_000224 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 1 - c.399G>T benign r.(?) p.(=) g.42946490C>A - PEX6(NM_000287.3):c.399G>T (p.V133=) - PEX6_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.400del Pathogenic r.(?) p.(Gly135Aspfs*23) g.42946489del - - - PEX6_000223 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.407C>A likely benign r.(?) p.(Pro136Gln) g.42946482G>T - PEX6(NM_000287.3):c.407C>A (p.P136Q) - PEX6_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+? 1 1 c.488G>C Likely pathogenic r.(?) p.(Arg163Pro) g.42946401C>G - - - PEX6_000222 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.510dup Pathogenic r.(?) p.(Gly171Trpfs*71) g.42946379dup - - - PEX6_000221 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.517del Pathogenic r.(?) p.(Ser173Alafs*33) g.42946372del - - - PEX6_000220 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.526del Pathogenic r.(?) p.(Pro177Hisfs*29) g.42946363del - - - PEX6_000219 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 2 - c.531A>C likely benign r.(?) p.(=) g.42946358T>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 Pathogenic r.(?) p.(Ala186Glu) g.42946332G>T - - - PEX6_000218 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.611C>G Pathogenic r.(?) p.(Ser204*) g.42946278G>C - - - PEX6_000217 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.656A>C Pathogenic r.(?) p.(Gln219Pro) g.42946233T>G - - - PEX6_000216 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.656del Pathogenic r.(?) p.(Gln219Argfs*27) g.42946233del - - - PEX6_000215 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.659G>T Pathogenic r.(?) p.(Gly220Val) g.42946230C>A - - - PEX6_000214 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 1 c.661G>T Likely pathogenic r.(?) p.(Glu221*) g.42946228C>A - - - PEX6_000213 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.685A>G VUS r.(?) p.(Arg229Gly) g.42946204T>C - PEX6(NM_000287.3):c.685A>G (p.R229G) - GNMT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.685_686del Pathogenic r.(?) p.(Glu230Valfs*11) g.42946203_42946204del - - - PEX6_000211 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.685_686dup Pathogenic r.(?) p.(Ser232Hisfs*15) g.42946203_42946204dup - - - PEX6_000212 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.689_690insAG Pathogenic r.(?) p.(Ser231Glyfs*16) g.42946199_42946200insCT - - - PEX6_000210 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.691_692insAG Pathogenic r.(?) p.(Ser231*) g.42946197_42946198insCT - - - PEX6_000209 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.727C>T Pathogenic r.(?) p.(Gln243*) g.42946162G>A - - - PEX6_000208 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1 c.798_811del Pathogenic r.(?) p.(Asp268Cysfs*8) g.42946078_42946091del - - - PEX6_000207 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 1 - c.813G>T benign r.(?) p.(=) g.42946076C>A - PEX6(NM_000287.3):c.813G>T (p.A271=) - PEX6_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.813_816dup Pathogenic r.(?) p.(Val273Alafs*9) g.42946073_42946076dup - - - GNMT_000008 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/. 1 - c.814_817dup pathogenic r.(?) p.(Val273Alafs*9) g.42946073_42946076dup - - - GNMT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/+ 4 5, 1 c.821C>T Pathogenic r.(?), - p.(Pro274Leu), p.Pro274Leu 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 - - Germline, In vitro (cloned), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, LOVD-team, but with Curator vacancy
+/+ 1 1 c.852del Pathogenic r.(?) p.(Leu286Trpfs*65) g.42946037del - - - PEX6_000206 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/., ?/. 2 - c.853C>G likely benign, VUS r.(?) p.(Pro285Ala) g.42946036G>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.867del Pathogenic r.(?) p.(Glu290Serfs*61) g.42946022del - - - PEX6_000205 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 1i c.882+1G>A Pathogenic r.spl? p.? g.42946006C>T - - - PEX6_000204 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 1 - c.883-3T>C benign r.spl? p.? g.42942779A>G - PEX6(NM_000287.3):c.883-3T>C - PEX6_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1i c.883-2A>G Pathogenic r.spl? p.? g.42942778T>C - - - PEX6_000203 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.903C>T likely benign r.(?) p.(=) g.42942756G>A - PEX6(NM_000287.3):c.903C>T (p.I301=) - PEX6_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 2 c.914del Pathogenic r.(?) p.(Asp305Alafs*46) g.42942745del - - - PEX6_000202 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.925T>G likely benign r.(?) p.(Cys309Gly) g.42942734A>C - PEX6(NM_000287.3):c.925T>G (p.(Cys309Gly)) - GNMT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.988C>T likely benign r.(?) p.(His330Tyr) g.42942671G>A - PEX6(NM_000287.3):c.988C>T (p.H330Y) - GNMT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1027del pathogenic r.(?) p.(Arg343Glyfs*8) g.42942633del - PEX6(NM_000287.3):c.1027delC (p.R343Gfs*8) - PEX6_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 2i c.1047-2A>G Pathogenic r.spl? p.? g.42941826T>C - - - PEX6_000201 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 2i c.1047-1G>A Pathogenic r.spl? p.? g.42941825C>T - - - PEX6_000200 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 3 c.1054C>T Pathogenic r.(?) p.(Gln352*) g.42941817G>A - - - PEX6_000199 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 3i c.1130+1G>A Pathogenic r.spl? p.? g.42941740C>T - - - PEX6_000198 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 3i c.1131-1G>C Pathogenic r.spl? p.? g.42937726C>G - - - PEX6_000197 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.1171G>A VUS r.(?) p.(Glu391Lys) g.42937685C>T - PEX6(NM_000287.3):c.1171G>A (p.E391K) - GNMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 4 c.1198T>A Pathogenic r.(?) p.(Tyr400Asn) g.42937658A>T - - - PEX6_000196 - - - - SUMMARY record - - - - - LOVD-team, but 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 Pathogenic r.(?) p.(Ser434Phefs*16) g.42937472del - - - PEX6_000195 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 5 c.1308_1315del Pathogenic r.(?) p.(Glu439Glyfs*3) g.42937458_42937465del - - - PEX6_000194 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 5 c.1336_1337del Pathogenic r.(?) p.(Ala447Cysfs*17) g.42937436_42937437del - - - PEX6_000193 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 5 c.1366del Pathogenic r.spl? p.? g.42937407del - - - PEX6_000192 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 6 c.1404del Pathogenic r.(?) p.(Arg469Glyfs*11) g.42936687del - - - PEX6_000191 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 6 c.1410dup Pathogenic r.(?) p.(Gly473Argfs*13) g.42936681dup - - - PEX6_000190 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 1 - c.1480-5C>T benign r.spl? p.? g.42936241G>A - PEX6(NM_000287.3):c.1480-5C>T - CNPY3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 7 c.1494del Pathogenic r.(?) p.(Leu499Serfs*49) g.42936222del - - - PEX6_000189 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.1509T>C likely benign r.(?) p.(=) g.42936207A>G - PEX6(NM_000287.3):c.1509T>C (p.S503=) - PEX6_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 7 c.1532T>G Pathogenic r.(?) p.(Leu511Arg) g.42936184A>C - - - PEX6_000188 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 7 c.1553C>A Pathogenic r.(?) p.(Ala518Asp) g.42936163G>T - - - PEX6_000187 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.1565G>C VUS r.(?) p.(Arg522Pro) g.42936151C>G - PEX6(NM_000287.3):c.1565G>C (p.R522P) - CNPY3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 7 c.1601T>C Pathogenic r.(?) p.(Leu534Pro) g.42936115A>G - - - PEX6_000186 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/., -/. 2 - c.1646C>T VUS, benign r.(?) p.(Ala549Val) g.42936070G>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 likely benign r.(?) p.(=) g.42936036G>A - PEX6(NM_000287.3):c.1680C>T (p.P560=) - PEX6_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 7i c.1688+1G>A Pathogenic r.spl? p.? g.42936027C>T - - - PEX6_000185 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 7i c.1689-1G>T Pathogenic r.spl? p.? g.42935302C>A - - - PEX6_000184 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.1706T>C VUS r.(?) p.(Val569Ala) g.42935284A>G - PEX6(NM_000287.3):c.1706T>C (p.V569A) - PEX6_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 8 c.1711G>A Pathogenic r.(?) p.(Ala571Thr) g.42935279C>T - - - PEX6_000183 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 8 c.1715C>T Pathogenic r.(?) p.(Thr572Ile) g.42935275G>A - - - PEX6_000182 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/., +?/+? 3 8 c.1718C>T VUS, Likely pathogenic r.(?) p.(Thr573Ile) g.42935272G>A - PEX6(NM_000287.3):c.1718C>T (p.T573I) - PEX6_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, LOVD-team, but with Curator vacancy
+/+ 1 8 c.1791_1792del Pathogenic r.(?) p.(Glu598Glyfs*63) g.42935198_42935199del - - - PEX6_000181 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 8 c.1801C>T Pathogenic r.(?) p.(Arg601Trp) g.42935189G>A - - - PEX6_000180 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/., +/+ 5 10, 8 c.1802G>A Pathogenic, ACMG: 5 r.(?), - p.(Arg601Gln), p.Arg601Gln 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, Trujillano et al., submitted - - Germline, In vitro (cloned), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, LOVD-team, but with Curator vacancy, Daniel Trujillano
+/+ 1 8 c.1814T>G Pathogenic r.(?) p.(Leu605Arg) g.42935176A>C - - - PEX6_000179 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/., +/+ 4 11, 8 c.1841del Pathogenic r.(?), - p.(Leu614Argfs*5), p.Leu614Argfs*5 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), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, LOVD-team, but with Curator vacancy
+/., +/+ 4 12, 9 c.1930C>T Pathogenic r.(?), - p.(Arg644Trp), p.Arg644Trp 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), SUMMARY record yes - - - - Jamie Zeegers, Johan den Dunnen, LOVD-team, but with Curator vacancy
+/+ 1 9 c.1946del Pathogenic r.(?) p.(Ile650Serfs*10) g.42934535del - - - PEX6_000178 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 9 c.1958C>G Pathogenic r.(?) p.(Ser653*) g.42934523G>C - - - PEX6_000177 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 1 - c.1961+20G>A benign r.(=) p.(=) g.42934500C>T - PEX6(NM_000287.3):c.1961+20G>A - PEX6_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 9i c.1962-1G>A Pathogenic r.spl? p.? g.42934396C>T - - - PEX6_000176 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 10 c.1992G>C Pathogenic r.(?) p.(Glu664Asp) g.42934365C>G - - - PEX6_000175 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 10 c.2048T>C Likely pathogenic r.(?) p.(Leu683Pro) g.42934309A>G - - - PEX6_000174 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 10i c.2094+2T>C Pathogenic r.spl? p.? g.42934261A>G - - - PEX6_000173 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 10i c.2095-2A>G Pathogenic r.spl? p.? g.42934187T>C - - - PEX6_000172 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 11 c.2120T>G Likely pathogenic r.(?) p.(Val707Gly) g.42934160A>C - - - PEX6_000171 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.2137G>T VUS r.(?) p.(Val713Leu) g.42934143C>A - PEX6(NM_000287.3):c.2137G>T (p.V713L) - CNPY3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 11 c.2207_2217del Pathogenic r.(?) p.(Arg736Thrfs*21) g.42934063_42934073del - - - PEX6_000170 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 11 c.2225T>C Pathogenic r.(?) p.(Leu742Pro) g.42934055A>G - - - PEX6_000169 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 11i c.2300+28G>A Pathogenic r.(=) p.(=) g.42933952C>T - - - PEX6_000168 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 11i c.2301-15C>G Pathogenic r.(=) p.(=) g.42933858G>C - - - PEX6_000167 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 11i c.2301-5C>G Pathogenic r.spl? p.? g.42933848G>C - - - PEX6_000166 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 12 c.2356C>T Pathogenic r.(?) p.(Arg786Trp) g.42933788G>A - - - PEX6_000165 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.2357G>A VUS r.(?) p.(Arg786Gln) g.42933787C>T - PEX6(NM_000287.3):c.2357G>A (p.(Arg786Gln)) - PEX6_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/+ 2 12 c.2362G>A pathogenic r.(?) p.(Val788Met) g.42933782C>T - PEX6(NM_000287.3):c.2362G>A (p.V788M) - PEX6_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL, LOVD-team, but with Curator vacancy
+/+ 1 13 c.2398_2417delinsT Pathogenic r.(?) p.(Ile800Serfs*16) g.42933473_42933492delinsA - - - PEX6_000164 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
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