All variants in the PEX7 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000288.3 transcript reference sequence.

269 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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.-95T>C r.(?) p.? - pathogenic (recessive) g.137143709T>C g.136822571T>C - - PEX7_000038 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.-45C>T r.(?) p.0? - pathogenic (recessive) g.137143759C>T g.136822621C>T - - PEX7_000027 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
?/. - c.2T>G r.(?) p.(Met1?) - VUS g.137143805T>G g.136822667T>G PEX7(NM_000288.3):c.2T>G (p.M1?) - PEX7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 1 c.13_19dup r.(?) p.(Gly7Valfs*51) - pathogenic (recessive) g.137143816_137143822dup g.136822678_136822684dup 12_18dupGTGCGGT - PEX7_000031 - PubMed: van den Brink 2003 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.40A>C r.(?) p.(Thr14Pro) - pathogenic (recessive) g.137143843A>C g.136822705A>C - - PEX7_000032 - PubMed: van den Brink 2003 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.45_52del r.(?) p.(Gly16Argfs*37) - pathogenic (recessive) g.137143848_137143855del g.136822710_136822717del 45_52delGGGACGCC - PEX7_000030 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.45_52dup r.(?) p.(His18Argfs*35) - pathogenic (recessive) g.137143848_137143855dup g.136822710_136822717dup 45_52dupGGGACGCC - PEX7_000036 - PubMed: Motley 2002 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.45_52dup r.(?) p.(His18Argfs*35) - pathogenic (recessive) g.137143848_137143855dup g.136822710_136822717dup 45_52dupGGGACGCC - PEX7_000036 - PubMed: Motley 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.60C>A r.(?) p.(Tyr20*) - pathogenic (recessive) g.137143863C>A g.136822725C>A - - PEX7_000079 no variant 2nd chromosome reported PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.64_65del r.(?) p.(Ala22Argfs*33) - pathogenic (recessive) g.137143867_137143868del g.136822729_136822730del 64_65delGC - PEX7_000003 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.64_65del r.(?) p.(Ala22Argfs*33) - pathogenic (recessive) g.137143867_137143868del g.136822729_136822730del 64_65delGC - PEX7_000003 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.74C>T r.(?) p.(Ser25Phe) - pathogenic (recessive) g.137143877C>T g.136822739C>T - - PEX7_000016 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
?/. - c.107C>T r.(?) p.(Thr36Ile) - VUS g.137143910C>T g.136822772C>T PEX7(NM_000288.3):c.107C>T (p.T36I) - PEX7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 c.116A>C r.(?) p.(His39Pro) - pathogenic (recessive) g.137143919A>C g.136822781A>C - - PEX7_000018 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
?/. - c.119A>G r.(?) p.(Tyr40Cys) - VUS g.137143922A>G - [119G>A;340-10A>G] - PEX7_000041 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - PubMed: van den Brink 2003 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - PubMed: van den Brink 2003 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - - - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.120C>G r.(?) p.(Tyr40*) - pathogenic (recessive) g.137143923C>G g.136822785C>G - - PEX7_000011 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 1 c.122G>T r.(?) p.(Gly41Val) - pathogenic (recessive) g.137143925G>T g.136822787G>T - - PEX7_000017 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 1i c.130+1G>A r.spl p.? - pathogenic (recessive) g.137143934G>A g.136822796G>A - - PEX7_000026 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 1i c.130+1G>A r.spl p.? - pathogenic (recessive) g.137143934G>A g.136822796G>A - - PEX7_000026 - - - - Germline - - - 0 - Nancy Braverman
+/. 1i c.130+1G>A r.spl p.? - pathogenic (recessive) g.137143934G>A g.136822796G>A - - PEX7_000026 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.130+1G>C r.spl p.? - pathogenic (recessive) g.137143934G>C g.136822796G>C - - PEX7_000080 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.130+3G>C r.spl p.? - pathogenic (recessive) g.137143936G>C g.136822798G>C - - PEX7_000081 no variant 2nd chromosome reported PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.131-5T>G r.spl? p.? - likely benign g.137146347T>G g.136825209T>G PEX7(NM_000288.3):c.131-5T>G - PEX7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.131-1G>A r.spl? p.? - pathogenic g.137146351G>A g.136825213G>A PEX7(NM_000288.3):c.131-1G>A - PEX7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 2i c.188+1G>A r.spl p.? - pathogenic (recessive) g.137146410G>A g.136825272G>A - - PEX7_000004 - - - - Germline - - - 0 - Nancy Braverman
+/. 2i c.188+1G>A r.spl p.? - pathogenic (recessive) g.137146410G>A g.136825272G>A - - PEX7_000004 - - - - Germline - - - 0 - Nancy Braverman
+/. 2i c.188+1G>A r.spl p.? - pathogenic (recessive) g.137146410G>A g.136825272G>A - - PEX7_000004 - - - - Germline - - - 0 - Nancy Braverman
+/. 2i c.188+1G>C r.spl p.? - pathogenic (recessive) g.137146410G>C g.136825272G>C - - PEX7_000005 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 2i c.188+1G>C r.spl p.? - pathogenic (recessive) g.137146410G>C g.136825272G>C - - PEX7_000005 - - - - Germline - - - 0 - Nancy Braverman
+/. - c.195_196del r.(?) p.(Asp65Glufs*3) - pathogenic (recessive) g.137147463_137147464del g.136826325_136826326del - - PEX7_000082 no variant 2nd chromosome reported PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.198G>A r.(?) p.(Trp66Ter) - pathogenic g.137147466G>A g.136826328G>A PEX7(NM_000288.3):c.198G>A (p.W66*) - PEX7_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.209T>G r.(?) p.(Leu70Trp) - pathogenic (recessive) g.137147477T>G g.136826339T>G - - PEX7_000083 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
?/. - c.214G>A r.(?) p.(Asp72Asn) - VUS g.137147482G>A g.136826344G>A PEX7(NM_000288.3):c.214G>A (p.D72N) - PEX7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.257G>A r.(?) p.(Cys86Tyr) - pathogenic g.137147525G>A g.136826387G>A - - PEX7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.257G>A r.(?) p.(Cys86Tyr) - pathogenic (recessive) g.137147525G>A g.136826387G>A - - PEX7_000063 no variant 2nd chromosome reported PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.257G>T r.(?) p.(Cys86Phe) - pathogenic (recessive) g.137147525G>T g.136826387G>T - - PEX7_000013 - - - - Germline - - - 0 - Nancy Braverman
+/. - c.283T>G r.(?) p.(Trp95Gly) - pathogenic (recessive) g.137147551T>G g.136826413T>G - - PEX7_000084 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.313C>A r.(?) p.(Gln105Lys) - likely benign g.137147581C>A g.136826443C>A PEX7(NM_000288.3):c.313C>A (p.Q105K) - PEX7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.315A>G r.(?) p.(Gln105=) - likely benign g.137147583A>G - PEX7(NM_000288.3):c.315A>G (p.Q105=) - PEX7_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.316G>C r.(?) p.(Val106Leu) - VUS g.137147584G>C g.136826446G>C PEX7(NM_000288.3):c.316G>C (p.(Val106Leu)) - PEX7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 3 c.329A>G r.(?) p.(His110Arg) - pathogenic (recessive) g.137147597A>G g.136826459A>G - - PEX7_000033 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.329A>G r.(?) p.(His110Arg) - pathogenic (recessive) g.137147597A>G g.136826459A>G - - PEX7_000033 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
-?/. - c.330C>T r.(?) p.(His110=) - likely benign g.137147598C>T g.136826460C>T PEX7(NM_000288.3):c.330C>T (p.H110=) - PEX7_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.334C>T r.(?) p.(Gln112*) - pathogenic (recessive) g.137147602C>T g.136826464C>T - - PEX7_000025 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 3i c.340-10A>G r.339_340ins340-9_340-1 p.? - pathogenic (recessive) g.137166743A>G - [119G>A;340-10A>G] - PEX7_000022 - - - - Germline - - - 0 - Nancy Braverman
+/. 3i c.340-10A>G r.339_340ins340-9_340-1 p.? - pathogenic (recessive) g.137166743A>G g.136845605A>G - - PEX7_000024 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 4 c.345T>G r.(?) p.(Tyr115*) - pathogenic (recessive) g.137166758T>G g.136845620T>G - - PEX7_000023 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.345T>G r.(?) p.(Tyr115*) - pathogenic (recessive) g.137166758T>G g.136845620T>G - - PEX7_000023 no variant 2nd chromosome reported PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.347G>T r.(?) p.(Ser116Ile) - pathogenic (recessive) g.137166760G>T g.136845622G>T - - PEX7_000040 - - - - Germline - - - 0 - Nancy Braverman
+/. 4 c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del 370_396del27nt - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Nancy Braverman
+/. 4 c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del 370_396del27nt - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del - - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del - - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del - - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del - - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370_396del r.(?) p.(Gly124_Ser132del) - pathogenic (recessive) g.137166783_137166809del g.136845645_136845671del - - PEX7_000037 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.376C>T r.(?) p.(Gln126*) - pathogenic (recessive) g.137166789C>T g.136845651C>T - - PEX7_000085 no variant 2nd chromosome reported PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
-/. - c.377A>C r.(?) p.(Gln126Pro) - benign g.137166790A>C g.136845652A>C PEX7(NM_000288.3):c.377A>C (p.Q126P) - PEX7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.377A>C r.(?) p.(Gln126Pro) - likely benign g.137166790A>C g.136845652A>C PEX7(NM_000288.3):c.377A>C (p.Q126P) - PEX7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.377A>C r.(?) p.(Gln126Pro) - likely benign g.137166790A>C g.136845652A>C - - PEX7_000049 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs113268723 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 4 c.395C>A r.(?) p.(Ser132*) - pathogenic (recessive) g.137166808C>A g.136845670C>A - - PEX7_000015 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.400G>A r.(?) p.(Asp134Asn) - pathogenic (recessive) g.137166813G>A g.136845675G>A - - PEX7_000086 - PubMed: Motley 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.427del r.(?) p.(Thr143Leufs*38) - pathogenic (recessive) g.137167220del g.136846082del 426delA - PEX7_000014 - - - - Germline - - - 0 - Nancy Braverman
+/. 9 c.429del r.(?) p.(Val144Leufs*37) - pathogenic (recessive) g.137167222del g.136846084del 429delT - PEX7_000019 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 5 c.454A>T r.(?) p.(Arg152*) - pathogenic (recessive) g.137167247A>T g.136846109A>T - - PEX7_000035 - - - - Germline - - - 0 - Nancy Braverman
+/. 5 c.490T>C r.(?) p.(Ser164Pro) - pathogenic (recessive) g.137167283T>C g.136846145T>C - - PEX7_000020 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 5 c.509_511del r.(?) p.(Cys170del) - pathogenic (recessive) g.137167302_137167304del g.136846164_136846166del 509_510delTGT - PEX7_000021 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
?/. - c.510T>G r.(?) p.(Cys170Trp) - VUS g.137167303T>G g.136846165T>G PEX7(NM_000288.3):c.510T>G (p.C170W) - PEX7_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.526+10T>C r.(=) p.(=) - benign g.137167329T>C g.136846191T>C PEX7(NM_000288.3):c.526+10T>C - PEX7_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.534G>C r.(?) p.(Gln178His) - VUS g.137187772G>C g.136866634G>C PEX7(NM_000288.3):c.534G>C (p.Q178H) - PEX7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.576C>T r.(?) p.(Ile192=) - likely benign g.137187814C>T g.136866676C>T PEX7(NM_000288.3):c.576C>T (p.I192=) - PEX7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.615C>T r.(?) p.(Asp205=) - benign g.137187853C>T g.136866715C>T PEX7(NM_000288.3):c.615C>T (p.D205=) - PEX7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.615C>T r.(?) p.(Asp205=) - likely benign g.137187853C>T g.136866715C>T PEX7(NM_000288.3):c.615C>T (p.D205=) - PEX7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.618G>A r.(?) p.(Trp206*) - pathogenic (recessive) g.137187856G>A g.136866718G>A - - PEX7_000012 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 6 c.618G>A r.(?) p.(Trp206*) - pathogenic (recessive) g.137187856G>A g.136866718G>A - - PEX7_000012 - - - - Germline - - - 0 - Nancy Braverman
+/. - c.649G>A r.(?) p.(Gly217Arg) - pathogenic g.137191043G>A g.136869905G>A PEX7(NM_000288.3):c.649G>A (p.G217R) - PEX7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - - - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - - - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - - - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - - - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.649G>A r.(?) p.(Gly217Arg) - pathogenic (recessive) g.137191043G>A g.136869905G>A - - PEX7_000006 - PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.653C>T r.(?) p.(Ala218Val) - pathogenic g.137191047C>T g.136869909C>T PEX7(NM_000288.3):c.653C>T (p.A218V) - PEX7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 7 c.653C>T r.(?) p.(Ala218Val) - pathogenic (recessive) g.137191047C>T g.136869909C>T - - PEX7_000007 - PubMed: Braverman 1997, PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.653C>T r.(?) p.(Ala218Val) - pathogenic (recessive) g.137191047C>T g.136869909C>T - - PEX7_000007 - PubMed: Braverman 1997, PubMed: Braverman 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.653C>T r.(?) p.(Ala218Val) - pathogenic (recessive) g.137191047C>T g.136869909C>T - - PEX7_000007 - PubMed: Motley 2002 - - Germline - - - 0 - Nancy Braverman
+/. 7 c.653C>T r.(?) p.(Ala218Val) - pathogenic (recessive) g.137191047C>T g.136869909C>T - - PEX7_000007 - - - - Germline - - - 0 - Nancy Braverman
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