Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28743 single nucleotide variant NM_000318.2(PEX2):c.355C>T (p.Arg119Ter) 61752123 MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866 8 77896060 77896060 G A 28743 single nucleotide variant NM_000318.2(PEX2):c.355C>T (p.Arg119Ter) 61752123 MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866 8 76983824 76983824 G A 28744 single nucleotide variant NM_001079867.1(PEX2):c.163G>A (p.Glu55Lys) 61752119 MedGen:C3542026,OMIM:614867 8 77896252 77896252 C T 28744 single nucleotide variant NM_001079867.1(PEX2):c.163G>A (p.Glu55Lys) 61752119 MedGen:C3542026,OMIM:614867 8 76984016 76984016 C T 98744 single nucleotide variant NM_001079867.1(PEX2):c.722G>T (p.Gly241Val) 150734057 MedGen:CN169374 8 77895693 77895693 C A 98744 single nucleotide variant NM_001079867.1(PEX2):c.722G>T (p.Gly241Val) 150734057 MedGen:CN169374 8 76983457 76983457 C A 98745 single nucleotide variant NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) 149287302 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 8 77896324 77896324 G C 98745 single nucleotide variant NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) 149287302 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 8 76984088 76984088 G C 135331 single nucleotide variant NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) 142645936 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 8 77895667 77895667 A G 135331 single nucleotide variant NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) 142645936 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 8 76983431 76983431 A G 143213 deletion NM_001079867.1(PEX2):c.279_283delGAGAT (p.Arg94Serfs) 61752122 MedGen:C3553940,OMIM:614866 8 77896132 77896136 ATCTC - 143213 deletion NM_001079867.1(PEX2):c.279_283delGAGAT (p.Arg94Serfs) 61752122 MedGen:C3553940,OMIM:614866 8 76983896 76983900 ATCTC - 143214 single nucleotide variant NM_001079867.1(PEX2):c.739T>C (p.Cys247Arg) 61752128 MedGen:C3553940,OMIM:614866 8 77895676 77895676 A G 143214 single nucleotide variant NM_001079867.1(PEX2):c.739T>C (p.Cys247Arg) 61752128 MedGen:C3553940,OMIM:614866 8 76983440 76983440 A G 143215 single nucleotide variant NM_001079867.1(PEX2):c.669G>A (p.Trp223Ter) 61752127 MedGen:C3542026,OMIM:614867 8 77895746 77895746 C T 143215 single nucleotide variant NM_001079867.1(PEX2):c.669G>A (p.Trp223Ter) 61752127 MedGen:C3542026,OMIM:614867 8 76983510 76983510 C T 172169 duplication NM_000318.2(PEX2):c.865dupA (p.Ser289Lysfs) 724160029 MedGen:C3542026,OMIM:614867 8 77895550 77895550 T TT 172169 duplication NM_000318.2(PEX2):c.865dupA (p.Ser289Lysfs) 724160029 MedGen:C3542026,OMIM:614867 8 76983314 76983314 T TT 177124 single nucleotide variant NM_001079867.1(PEX2):c.269C>T (p.Ser90Phe) 146354196 MedGen:CN169374 8 76983910 76983910 G A 177124 single nucleotide variant NM_001079867.1(PEX2):c.269C>T (p.Ser90Phe) 146354196 MedGen:CN169374 8 77896146 77896146 G A 177936 single nucleotide variant NM_001079867.1(PEX2):c.550C= (p.Arg184=) 10087163 MedGen:CN169374 8 77895865 77895865 A G 177936 single nucleotide variant NM_001079867.1(PEX2):c.550C= (p.Arg184=) 10087163 MedGen:CN169374 8 76983629 76983629 A G 253177 single nucleotide variant NM_000318.2(PEX2):c.733G>A (p.Ala245Thr) 112108739 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 8 77895682 77895682 C T 253177 single nucleotide variant NM_000318.2(PEX2):c.733G>A (p.Ala245Thr) 112108739 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 8 76983446 76983446 C T 259907 single nucleotide variant NM_000318.2(PEX2):c.740G>A (p.Cys247Tyr) 886039481 MedGen:CN221809 8 77895675 77895675 C T 259907 single nucleotide variant NM_000318.2(PEX2):c.740G>A (p.Cys247Tyr) 886039481 MedGen:CN221809 8 76983439 76983439 C T 266584 single nucleotide variant NM_001079867.1(PEX2):c.209A>G (p.Tyr70Cys) 35689779 MedGen:CN169374 8 77896206 77896206 T C 266584 single nucleotide variant NM_001079867.1(PEX2):c.209A>G (p.Tyr70Cys) 35689779 MedGen:CN169374 8 76983970 76983970 T C 271046 single nucleotide variant NM_001079867.1(PEX2):c.67C>T (p.Leu23Phe) 886043483 MedGen:CN169374 8 77896348 77896348 G A 271046 single nucleotide variant NM_001079867.1(PEX2):c.67C>T (p.Leu23Phe) 886043483 MedGen:CN169374 8 76984112 76984112 G A 271736 deletion NM_001079867.1(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) 764771123 MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866 8 77896070 77896076 CCACCTG - 271736 deletion NM_001079867.1(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) 764771123 MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866 8 76983834 76983840 CCACCTG - 272407 single nucleotide variant NM_001079867.1(PEX2):c.237A>G (p.Ser79=) 138220337 MedGen:CN169374 8 77896178 77896178 T C 272407 single nucleotide variant NM_001079867.1(PEX2):c.237A>G (p.Ser79=) 138220337 MedGen:CN169374 8 76983942 76983942 T C 272932 single nucleotide variant NM_001079867.1(PEX2):c.322G>C (p.Val108Leu) 148101729 MedGen:CN169374 8 77896093 77896093 C G 272932 single nucleotide variant NM_001079867.1(PEX2):c.322G>C (p.Val108Leu) 148101729 MedGen:CN169374 8 76983857 76983857 C G 273221 single nucleotide variant NM_001079867.1(PEX2):c.19A>C (p.Asn7His) 576066189 MedGen:CN169374 8 77896396 77896396 T G 273221 single nucleotide variant NM_001079867.1(PEX2):c.19A>C (p.Asn7His) 576066189 MedGen:CN169374 8 76984160 76984160 T G 275181 single nucleotide variant NM_001079867.1(PEX2):c.795T>C (p.Tyr265=) 764785488 MedGen:CN169374 8 77895620 77895620 A G 275181 single nucleotide variant NM_001079867.1(PEX2):c.795T>C (p.Tyr265=) 764785488 MedGen:CN169374 8 76983384 76983384 A G 275390 single nucleotide variant NM_001079867.1(PEX2):c.477G>A (p.Gln159=) 35218706 MedGen:CN169374 8 77895938 77895938 C T 275390 single nucleotide variant NM_001079867.1(PEX2):c.477G>A (p.Gln159=) 35218706 MedGen:CN169374 8 76983702 76983702 C T 305885 single nucleotide variant NM_000318.2(PEX2):c.*2973T>C 751974703 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980288 76980288 A G 305885 single nucleotide variant NM_000318.2(PEX2):c.*2973T>C 751974703 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77892524 77892524 A G 305891 deletion NM_000318.2(PEX2):c.*2920_*2922delAAG 746335104 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980339 76980341 CTT - 305891 deletion NM_000318.2(PEX2):c.*2920_*2922delAAG 746335104 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77892575 77892577 CTT - 305892 single nucleotide variant NM_000318.2(PEX2):c.*2894T>C 569387185 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980367 76980367 A G 305892 single nucleotide variant NM_000318.2(PEX2):c.*2894T>C 569387185 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77892603 77892603 A G 305893 single nucleotide variant NM_000318.2(PEX2):c.*2787G>A 886063123 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980474 76980474 C T 305893 single nucleotide variant NM_000318.2(PEX2):c.*2787G>A 886063123 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77892710 77892710 C T 305894 single nucleotide variant NM_000318.2(PEX2):c.*2663T>A 28435921 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980598 76980598 A T 305894 single nucleotide variant NM_000318.2(PEX2):c.*2663T>A 28435921 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77892834 77892834 A T 305899 single nucleotide variant NM_000318.2(PEX2):c.*2377A>G 4388434 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980884 76980884 T C 305899 single nucleotide variant NM_000318.2(PEX2):c.*2377A>G 4388434 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893120 77893120 T C 305900 single nucleotide variant NM_000318.2(PEX2):c.*2294C>G 763651452 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980967 76980967 G C 305900 single nucleotide variant NM_000318.2(PEX2):c.*2294C>G 763651452 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893203 77893203 G C 305911 single nucleotide variant NM_000318.2(PEX2):c.*1909G>T 112352942 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893588 77893588 C A 305911 single nucleotide variant NM_000318.2(PEX2):c.*1909G>T 112352942 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981352 76981352 C A 305913 single nucleotide variant NM_000318.2(PEX2):c.*1811C>T 886063128 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981450 76981450 G A 305913 single nucleotide variant NM_000318.2(PEX2):c.*1811C>T 886063128 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893686 77893686 G A 305914 single nucleotide variant NM_000318.2(PEX2):c.*1755A>G 886063129 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981506 76981506 T C 305914 single nucleotide variant NM_000318.2(PEX2):c.*1755A>G 886063129 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893742 77893742 T C 305915 single nucleotide variant NM_000318.2(PEX2):c.*1696C>T 112199677 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981565 76981565 G A 305915 single nucleotide variant NM_000318.2(PEX2):c.*1696C>T 112199677 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893801 77893801 G A 305919 single nucleotide variant NM_000318.2(PEX2):c.*1602A>G 557330187 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981659 76981659 T C 305919 single nucleotide variant NM_000318.2(PEX2):c.*1602A>G 557330187 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893895 77893895 T C 305922 single nucleotide variant NM_000318.2(PEX2):c.*1448C>T 184740361 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981813 76981813 G A 305922 single nucleotide variant NM_000318.2(PEX2):c.*1448C>T 184740361 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894049 77894049 G A 305925 single nucleotide variant NM_000318.2(PEX2):c.*1141G>A 10108054 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982120 76982120 C T 305925 single nucleotide variant NM_000318.2(PEX2):c.*1141G>A 10108054 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894356 77894356 C T 305926 single nucleotide variant NM_000318.2(PEX2):c.*727T>C 4610720 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894770 77894770 A G 305926 single nucleotide variant NM_000318.2(PEX2):c.*727T>C 4610720 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982534 76982534 A G 305927 single nucleotide variant NM_000318.2(PEX2):c.*595C>T 754113775 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982666 76982666 G A 305927 single nucleotide variant NM_000318.2(PEX2):c.*595C>T 754113775 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894902 77894902 G A 305931 single nucleotide variant NM_000318.2(PEX2):c.*489C>T 886063136 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982772 76982772 G A 305931 single nucleotide variant NM_000318.2(PEX2):c.*489C>T 886063136 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895008 77895008 G A 305934 deletion NM_000318.2(PEX2):c.-13delC 146402705 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76984191 76984191 G - 305934 deletion NM_000318.2(PEX2):c.-13delC 146402705 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77896427 77896427 G - 305935 single nucleotide variant NM_000318.2(PEX2):c.-273G>A 367767138 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000103 77000103 C T 305935 single nucleotide variant NM_000318.2(PEX2):c.-273G>A 367767138 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912339 77912339 C T 309956 single nucleotide variant NM_000318.2(PEX2):c.*2518C>T 886063124 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77892979 77892979 G A 309956 single nucleotide variant NM_000318.2(PEX2):c.*2518C>T 886063124 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980743 76980743 G A 309959 single nucleotide variant NM_000318.2(PEX2):c.*2338C>T 56231626 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980923 76980923 G A 309959 single nucleotide variant NM_000318.2(PEX2):c.*2338C>T 56231626 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893159 77893159 G A 309971 single nucleotide variant NM_000318.2(PEX2):c.*1854A>C 886063127 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893643 77893643 T G 309971 single nucleotide variant NM_000318.2(PEX2):c.*1854A>C 886063127 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981407 76981407 T G 309973 single nucleotide variant NM_000318.2(PEX2):c.*1842G>C 184573256 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981419 76981419 C G 309973 single nucleotide variant NM_000318.2(PEX2):c.*1842G>C 184573256 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893655 77893655 C G 309975 single nucleotide variant NM_000318.2(PEX2):c.*1370A>G 886063131 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981891 76981891 T C 309975 single nucleotide variant NM_000318.2(PEX2):c.*1370A>G 886063131 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894127 77894127 T C 309977 single nucleotide variant NM_000318.2(PEX2):c.*819A>C 886063135 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982442 76982442 T G 309977 single nucleotide variant NM_000318.2(PEX2):c.*819A>C 886063135 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894678 77894678 T G 309979 single nucleotide variant NM_000318.2(PEX2):c.*324G>T 886063137 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982937 76982937 C A 309979 single nucleotide variant NM_000318.2(PEX2):c.*324G>T 886063137 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895173 77895173 C A 309980 deletion NM_000318.2(PEX2):c.*277_*279delCCT 886063138 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982982 76982984 AGG - 309980 deletion NM_000318.2(PEX2):c.*277_*279delCCT 886063138 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895218 77895220 AGG - 309981 single nucleotide variant NM_000318.2(PEX2):c.*40G>A 148915806 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76983221 76983221 C T 309981 single nucleotide variant NM_000318.2(PEX2):c.*40G>A 148915806 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895457 77895457 C T 309982 single nucleotide variant NM_000318.2(PEX2):c.*37C>T 886063140 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76983224 76983224 G A 309982 single nucleotide variant NM_000318.2(PEX2):c.*37C>T 886063140 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895460 77895460 G A 309983 single nucleotide variant NM_000318.2(PEX2):c.152G>T (p.Arg51Leu) 549242503 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76984027 76984027 C A 309983 single nucleotide variant NM_000318.2(PEX2):c.152G>T (p.Arg51Leu) 549242503 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77896263 77896263 C A 315236 single nucleotide variant NM_000318.2(PEX2):c.*2446C>T 73242165 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980815 76980815 G A 315236 single nucleotide variant NM_000318.2(PEX2):c.*2446C>T 73242165 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893051 77893051 G A 315237 single nucleotide variant NM_000318.2(PEX2):c.*2142A>G 79700176 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981119 76981119 T C 315237 single nucleotide variant NM_000318.2(PEX2):c.*2142A>G 79700176 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893355 77893355 T C 315239 single nucleotide variant NM_000318.2(PEX2):c.*2057G>A 568202276 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981204 76981204 C T 315239 single nucleotide variant NM_000318.2(PEX2):c.*2057G>A 568202276 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893440 77893440 C T 315240 single nucleotide variant NM_000318.2(PEX2):c.*2007A>T 558850392 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893490 77893490 T A 315240 single nucleotide variant NM_000318.2(PEX2):c.*2007A>T 558850392 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981254 76981254 T A 315241 single nucleotide variant NM_000318.2(PEX2):c.*1716A>G 192555214 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981545 76981545 T C 315241 single nucleotide variant NM_000318.2(PEX2):c.*1716A>G 192555214 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893781 77893781 T C 315249 single nucleotide variant NM_000318.2(PEX2):c.*1561G>A 886063130 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981700 76981700 C T 315249 single nucleotide variant NM_000318.2(PEX2):c.*1561G>A 886063130 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893936 77893936 C T 315251 single nucleotide variant NM_000318.2(PEX2):c.*1242A>G 73691481 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982019 76982019 T C 315251 single nucleotide variant NM_000318.2(PEX2):c.*1242A>G 73691481 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894255 77894255 T C 315255 single nucleotide variant NM_000318.2(PEX2):c.*1194A>G 4311633 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982067 76982067 T C 315255 single nucleotide variant NM_000318.2(PEX2):c.*1194A>G 4311633 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894303 77894303 T C 315261 single nucleotide variant NM_000318.2(PEX2):c.*1047T>A 886063133 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982214 76982214 A T 315261 single nucleotide variant NM_000318.2(PEX2):c.*1047T>A 886063133 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894450 77894450 A T 315272 single nucleotide variant NM_000318.2(PEX2):c.*627G>T 145960090 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982634 76982634 C A 315272 single nucleotide variant NM_000318.2(PEX2):c.*627G>T 145960090 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894870 77894870 C A 315277 single nucleotide variant NM_000318.2(PEX2):c.*458G>A 143201132 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982803 76982803 C T 315277 single nucleotide variant NM_000318.2(PEX2):c.*458G>A 143201132 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895039 77895039 C T 315278 single nucleotide variant NM_000318.2(PEX2):c.*91A>G 886063139 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76983170 76983170 T C 315278 single nucleotide variant NM_000318.2(PEX2):c.*91A>G 886063139 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895406 77895406 T C 315282 single nucleotide variant NM_000318.2(PEX2):c.769A>G (p.Ile257Val) 199874465 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76983410 76983410 T C 315282 single nucleotide variant NM_000318.2(PEX2):c.769A>G (p.Ile257Val) 199874465 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895646 77895646 T C 315286 single nucleotide variant NM_000318.2(PEX2):c.-164C>A 12718 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76999994 76999994 G T 315286 single nucleotide variant NM_000318.2(PEX2):c.-164C>A 12718 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912230 77912230 G T 315287 single nucleotide variant NM_000318.2(PEX2):c.-335C>T 886063143 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000165 77000165 G A 315287 single nucleotide variant NM_000318.2(PEX2):c.-335C>T 886063143 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912401 77912401 G A 315303 single nucleotide variant NM_000318.2(PEX2):c.*2466A>G 886063125 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980795 76980795 T C 315303 single nucleotide variant NM_000318.2(PEX2):c.*2466A>G 886063125 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893031 77893031 T C 315304 single nucleotide variant NM_000318.2(PEX2):c.*2430T>C 886063126 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980831 76980831 A G 315304 single nucleotide variant NM_000318.2(PEX2):c.*2430T>C 886063126 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893067 77893067 A G 315305 single nucleotide variant NM_000318.2(PEX2):c.*2306A>G 59296540 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76980955 76980955 T C 315305 single nucleotide variant NM_000318.2(PEX2):c.*2306A>G 59296540 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893191 77893191 T C 315314 single nucleotide variant NM_000318.2(PEX2):c.*1765G>A 60300869 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981496 76981496 C T 315314 single nucleotide variant NM_000318.2(PEX2):c.*1765G>A 60300869 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77893732 77893732 C T 315317 deletion NM_000318.2(PEX2):c.*1469_*1471delATT 552746754 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76981790 76981792 AAT - 315317 deletion NM_000318.2(PEX2):c.*1469_*1471delATT 552746754 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894026 77894028 AAT - 315318 single nucleotide variant NM_000318.2(PEX2):c.*1085T>A 886063132 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982176 76982176 A T 315318 single nucleotide variant NM_000318.2(PEX2):c.*1085T>A 886063132 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894412 77894412 A T 315325 single nucleotide variant NM_000318.2(PEX2):c.*913C>T 886063134 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76982348 76982348 G A 315325 single nucleotide variant NM_000318.2(PEX2):c.*913C>T 886063134 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77894584 77894584 G A 315328 single nucleotide variant NM_000318.2(PEX2):c.*233C>G 190595998 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76983028 76983028 G C 315328 single nucleotide variant NM_000318.2(PEX2):c.*233C>G 190595998 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895264 77895264 G C 315343 single nucleotide variant NM_000318.2(PEX2):c.*103C>G 529963492 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76983158 76983158 G C 315343 single nucleotide variant NM_000318.2(PEX2):c.*103C>G 529963492 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77895394 77895394 G C 315355 single nucleotide variant NM_000318.2(PEX2):c.24G>A (p.Ala8=) 9298285 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77896391 77896391 C T 315355 single nucleotide variant NM_000318.2(PEX2):c.24G>A (p.Ala8=) 9298285 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 76984155 76984155 C T 315357 single nucleotide variant NM_000318.2(PEX2):c.-178C>T 886063141 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000008 77000008 G A 315357 single nucleotide variant NM_000318.2(PEX2):c.-178C>T 886063141 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912244 77912244 G A 315360 single nucleotide variant NM_000318.2(PEX2):c.-183G>T 568404564 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000013 77000013 C A 315360 single nucleotide variant NM_000318.2(PEX2):c.-183G>T 568404564 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912249 77912249 C A 315361 single nucleotide variant NM_000318.2(PEX2):c.-278C>G 886063142 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000108 77000108 G C 315361 single nucleotide variant NM_000318.2(PEX2):c.-278C>G 886063142 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912344 77912344 G C 315362 single nucleotide variant NM_000318.2(PEX2):c.-367A>G 886063144 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000197 77000197 T C 315362 single nucleotide variant NM_000318.2(PEX2):c.-367A>G 886063144 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912433 77912433 T C 315363 single nucleotide variant NM_000318.2(PEX2):c.-369C>T 886063145 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77000199 77000199 G A 315363 single nucleotide variant NM_000318.2(PEX2):c.-369C>T 886063145 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 8 77912435 77912435 G A 357639 deletion NM_001079867.1(PEX2):c.834_838delTACTT (p.Phe278Leufs) 267608188 MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866 8 76983341 76983345 AAGTA - 357639 deletion NM_001079867.1(PEX2):c.834_838delTACTT (p.Phe278Leufs) 267608188 MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866 8 77895577 77895581 AAGTA -

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000164751.14 PEX2 170993