Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 21810 single nucleotide variant NM_153818.1(PEX10):c.930C>G (p.His310Gln) 61752095 MedGen:C3553948,OMIM:614871 1 2337965 2337965 G C 21809 single nucleotide variant NM_002617.3(PEX10):c.600+1G>A 267608183 MedGen:C3553947,OMIM:614870 1 2339890 2339890 C T 21809 single nucleotide variant NM_002617.3(PEX10):c.600+1G>A 267608183 MedGen:C3553947,OMIM:614870 1 2408451 2408451 C T 21810 single nucleotide variant NM_153818.1(PEX10):c.930C>G (p.His310Gln) 61752095 MedGen:C3553948,OMIM:614871 1 2406526 2406526 G C 21811 single nucleotide variant NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) 61750434 MedGen:C3553948,OMIM:614871 1 2340118 2340118 G A 21811 single nucleotide variant NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) 61750434 MedGen:C3553948,OMIM:614871 1 2408679 2408679 G A 21812 deletion PEX10, 2-BP DEL, 814CT -1 MedGen:C3553947,OMIM:614870 na -1 -1 na na 21813 duplication NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) 61750435 MedGen:C3553947,OMIM:614870;MedGen:C3553948,OMIM:614871;MedGen:CN221809 1 2338231 2338231 T TT 21813 duplication NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) 61750435 MedGen:C3553947,OMIM:614870;MedGen:C3553948,OMIM:614871;MedGen:CN221809 1 2406792 2406792 T TT 21814 indel PEX10, DEL/INS/FS, NT13 -1 MedGen:C3553947,OMIM:614870 na -1 -1 na na 135329 single nucleotide variant NM_153818.1(PEX10):c.279C>T (p.Gly93=) 1143016 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2340212 2340212 G A 135329 single nucleotide variant NM_153818.1(PEX10):c.279C>T (p.Gly93=) 1143016 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2408773 2408773 G A 135330 single nucleotide variant NM_153818.1(PEX10):c.291A>G (p.Thr97=) 2494598 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2340200 2340200 T C 135330 single nucleotide variant NM_153818.1(PEX10):c.291A>G (p.Thr97=) 2494598 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2408761 2408761 T C 172123 single nucleotide variant NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) 724160000 MedGen:C3553948,OMIM:614871 1 2338005 2338005 A G 172122 deletion NM_002617.3(PEX10):c.337delC (p.Leu113Trpfs) 724159999 MedGen:C3553948,OMIM:614871 1 2340154 2340154 G - 172122 deletion NM_002617.3(PEX10):c.337delC (p.Leu113Trpfs) 724159999 MedGen:C3553948,OMIM:614871 1 2408715 2408715 G - 172123 single nucleotide variant NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) 724160000 MedGen:C3553948,OMIM:614871 1 2406566 2406566 A G 172124 single nucleotide variant NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) 724160001 MedGen:C3553948,OMIM:614871 1 2337254 2337254 C T 172124 single nucleotide variant NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) 724160001 MedGen:C3553948,OMIM:614871 1 2405815 2405815 C T 172125 single nucleotide variant NM_153818.1(PEX10):c.2T>C (p.Met1Thr) 724160002 MedGen:C3553948,OMIM:614871 1 2412501 2412501 A G 172125 single nucleotide variant NM_153818.1(PEX10):c.2T>C (p.Met1Thr) 724160002 MedGen:C3553948,OMIM:614871 1 2343940 2343940 A G 172126 single nucleotide variant NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) 61752092 MedGen:C3553948,OMIM:614871 1 2406766 2406766 G A 172126 single nucleotide variant NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) 61752092 MedGen:C3553948,OMIM:614871 1 2338205 2338205 G A 193749 single nucleotide variant NM_153818.1(PEX10):c.495C>T (p.Phe165=) 150344828 MedGen:CN169374 1 2339996 2339996 G A 193749 single nucleotide variant NM_153818.1(PEX10):c.495C>T (p.Phe165=) 150344828 MedGen:CN169374 1 2408557 2408557 G A 194546 single nucleotide variant NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) 61736380 MedGen:CN169374 1 2406784 2406784 C G 194546 single nucleotide variant NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) 61736380 MedGen:CN169374 1 2338223 2338223 C G 194547 single nucleotide variant NM_153818.1(PEX10):c.671G>A (p.Arg224His) 199934621 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2338324 2338324 C T 194547 single nucleotide variant NM_153818.1(PEX10):c.671G>A (p.Arg224His) 199934621 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2406885 2406885 C T 195047 insertion NM_153818.1(PEX10):c.927_928insG (p.His310Alafs) 797044762 MedGen:C3553947,OMIM:614870 1 2337967 2337968 - C 195047 insertion NM_153818.1(PEX10):c.927_928insG (p.His310Alafs) 797044762 MedGen:C3553947,OMIM:614870 1 2406528 2406529 - C 195048 single nucleotide variant NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) 34154371 MedGen:CN169374 1 2338015 2338015 T C 195048 single nucleotide variant NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) 34154371 MedGen:CN169374 1 2406576 2406576 T C 226879 single nucleotide variant NM_153818.1(PEX10):c.836+1G>C 869312935 MeSH:D030342,MedGen:C0950123 1 2338158 2338158 C G 226879 single nucleotide variant NM_153818.1(PEX10):c.836+1G>C 869312935 MeSH:D030342,MedGen:C0950123 1 2406719 2406719 C G 237148 deletion NM_153818.1(PEX10):c.338delT (p.Leu113Argfs) 878853044 MedGen:CN221809 1 2340153 2340153 A - 237148 deletion NM_153818.1(PEX10):c.338delT (p.Leu113Argfs) 878853044 MedGen:CN221809 1 2408714 2408714 A - 249840 single nucleotide variant NM_153818.1(PEX10):c.*11G>A 3795270 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2405755 2405755 C T 249840 single nucleotide variant NM_153818.1(PEX10):c.*11G>A 3795270 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2337194 2337194 C T 249841 single nucleotide variant NM_153818.1(PEX10):c.973-4G>A 11586985 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2405838 2405838 C T 249841 single nucleotide variant NM_153818.1(PEX10):c.973-4G>A 11586985 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2337277 2337277 C T 249842 single nucleotide variant NM_153818.1(PEX10):c.903G>A (p.Arg301=) 35082957 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2406553 2406553 C T 249842 single nucleotide variant NM_153818.1(PEX10):c.903G>A (p.Arg301=) 35082957 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2337992 2337992 C T 249843 single nucleotide variant NM_153818.1(PEX10):c.318G>A (p.Leu106=) 146452560 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2408734 2408734 C T 249843 single nucleotide variant NM_153818.1(PEX10):c.318G>A (p.Leu106=) 146452560 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2340173 2340173 C T 249844 single nucleotide variant NM_153818.1(PEX10):c.194-5C>T 375032738 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2408863 2408863 G A 249844 single nucleotide variant NM_153818.1(PEX10):c.194-5C>T 375032738 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2340302 2340302 G A 263985 single nucleotide variant NM_153818.1(PEX10):c.1A>G (p.Met1Val) 886041314 MedGen:CN221809 1 2343941 2343941 T C 263985 single nucleotide variant NM_153818.1(PEX10):c.1A>G (p.Met1Val) 886041314 MedGen:CN221809 1 2412502 2412502 T C 266571 single nucleotide variant NM_153818.1(PEX10):c.895G>T (p.Glu299Ter) 62641225 MedGen:C3553947,OMIM:614870 1 2338000 2338000 C A 266571 single nucleotide variant NM_153818.1(PEX10):c.895G>T (p.Glu299Ter) 62641225 MedGen:C3553947,OMIM:614870 1 2406561 2406561 C A 268099 single nucleotide variant NM_153818.1(PEX10):c.956C>T (p.Ala319Val) 78620392 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2337939 2337939 G A 268099 single nucleotide variant NM_153818.1(PEX10):c.956C>T (p.Ala319Val) 78620392 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2406500 2406500 G A 268558 single nucleotide variant NM_153818.1(PEX10):c.6C>G (p.Ala2=) 112471479 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2343936 2343936 G C 268558 single nucleotide variant NM_153818.1(PEX10):c.6C>G (p.Ala2=) 112471479 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459;MedGen:CN169374 1 2412497 2412497 G C 271045 single nucleotide variant NM_153818.1(PEX10):c.898C>T (p.Arg300Cys) 750424221 MedGen:CN169374 1 2337997 2337997 G A 271045 single nucleotide variant NM_153818.1(PEX10):c.898C>T (p.Arg300Cys) 750424221 MedGen:CN169374 1 2406558 2406558 G A 271095 single nucleotide variant NM_153818.1(PEX10):c.975G>A (p.Ala325=) 374891812 MedGen:CN169374 1 2337271 2337271 C T 271095 single nucleotide variant NM_153818.1(PEX10):c.975G>A (p.Ala325=) 374891812 MedGen:CN169374 1 2405832 2405832 C T 271230 single nucleotide variant NM_153818.1(PEX10):c.871C>A (p.Pro291Thr) 886043542 MedGen:CN169374 1 2338024 2338024 G T 271230 single nucleotide variant NM_153818.1(PEX10):c.871C>A (p.Pro291Thr) 886043542 MedGen:CN169374 1 2406585 2406585 G T 272944 single nucleotide variant NM_153818.1(PEX10):c.994G>A (p.Glu332Lys) 886043985 MedGen:CN169374 1 2337252 2337252 C T 272944 single nucleotide variant NM_153818.1(PEX10):c.994G>A (p.Glu332Lys) 886043985 MedGen:CN169374 1 2405813 2405813 C T 273428 single nucleotide variant NM_153818.1(PEX10):c.872C>T (p.Pro291Leu) 142088776 MedGen:CN169374 1 2338023 2338023 G A 273428 single nucleotide variant NM_153818.1(PEX10):c.872C>T (p.Pro291Leu) 142088776 MedGen:CN169374 1 2406584 2406584 G A 273496 single nucleotide variant NM_153818.1(PEX10):c.446C>T (p.Thr149Met) 764948458 MedGen:CN169374 1 2340045 2340045 G A 273496 single nucleotide variant NM_153818.1(PEX10):c.446C>T (p.Thr149Met) 764948458 MedGen:CN169374 1 2408606 2408606 G A 273793 single nucleotide variant NM_153818.1(PEX10):c.333C>T (p.Leu111=) 781710848 MedGen:CN169374 1 2340158 2340158 G A 273793 single nucleotide variant NM_153818.1(PEX10):c.333C>T (p.Leu111=) 781710848 MedGen:CN169374 1 2408719 2408719 G A 273980 single nucleotide variant NM_153818.1(PEX10):c.876G>T (p.Leu292=) 144440263 MedGen:CN169374 1 2338019 2338019 C A 273980 single nucleotide variant NM_153818.1(PEX10):c.876G>T (p.Leu292=) 144440263 MedGen:CN169374 1 2406580 2406580 C A 274347 single nucleotide variant NM_153818.1(PEX10):c.833G>A (p.Arg278His) 773147980 MedGen:CN169374 1 2338162 2338162 C T 274347 single nucleotide variant NM_153818.1(PEX10):c.833G>A (p.Arg278His) 773147980 MedGen:CN169374 1 2406723 2406723 C T 275247 indel NM_153818.1(PEX10):c.290_291delCAinsTG (p.Thr97Met) 886044619 MedGen:CN169374 1 2340200 2340201 TG CA 275247 indel NM_153818.1(PEX10):c.290_291delCAinsTG (p.Thr97Met) 886044619 MedGen:CN169374 1 2408761 2408762 TG CA 275393 single nucleotide variant NM_153818.1(PEX10):c.701G>A (p.Arg234His) 368143757 MedGen:CN169374 1 2338294 2338294 C T 275393 single nucleotide variant NM_153818.1(PEX10):c.701G>A (p.Arg234His) 368143757 MedGen:CN169374 1 2406855 2406855 C T 280132 single nucleotide variant NM_153818.1(PEX10):c.*835C>T 886046136 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336370 2336370 G A 280132 single nucleotide variant NM_153818.1(PEX10):c.*835C>T 886046136 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2404931 2404931 G A 280133 single nucleotide variant NM_153818.1(PEX10):c.*688G>T 886046141 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405078 2405078 C A 280133 single nucleotide variant NM_153818.1(PEX10):c.*688G>T 886046141 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336517 2336517 C A 280134 single nucleotide variant NM_153818.1(PEX10):c.*594C>T 760677467 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405172 2405172 G A 280134 single nucleotide variant NM_153818.1(PEX10):c.*594C>T 760677467 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336611 2336611 G A 280137 single nucleotide variant NM_153818.1(PEX10):c.745G>C (p.Val249Leu) 139345520 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2406811 2406811 C G 280137 single nucleotide variant NM_153818.1(PEX10):c.745G>C (p.Val249Leu) 139345520 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2338250 2338250 C G 280463 single nucleotide variant NM_153818.1(PEX10):c.*838C>T 886046135 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336367 2336367 G A 280463 single nucleotide variant NM_153818.1(PEX10):c.*838C>T 886046135 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2404928 2404928 G A 280466 single nucleotide variant NM_153818.1(PEX10):c.*798C>T 886046137 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336407 2336407 G A 280466 single nucleotide variant NM_153818.1(PEX10):c.*798C>T 886046137 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2404968 2404968 G A 280467 single nucleotide variant NM_153818.1(PEX10):c.*782C>A 886046138 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336423 2336423 G T 280467 single nucleotide variant NM_153818.1(PEX10):c.*782C>A 886046138 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2404984 2404984 G T 280468 duplication NM_153818.1(PEX10):c.*744dupG 886046139 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336461 2336461 C CC 280468 duplication NM_153818.1(PEX10):c.*744dupG 886046139 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405022 2405022 C CC 280469 single nucleotide variant NM_153818.1(PEX10):c.*732G>A 886046140 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405034 2405034 C T 280469 single nucleotide variant NM_153818.1(PEX10):c.*732G>A 886046140 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336473 2336473 C T 280471 single nucleotide variant NM_153818.1(PEX10):c.*627C>T 886046142 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405139 2405139 G A 280471 single nucleotide variant NM_153818.1(PEX10):c.*627C>T 886046142 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336578 2336578 G A 280473 single nucleotide variant NM_153818.1(PEX10):c.*352G>A 115735911 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336853 2336853 C T 280473 single nucleotide variant NM_153818.1(PEX10):c.*352G>A 115735911 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405414 2405414 C T 280474 single nucleotide variant NM_153818.1(PEX10):c.*173G>A 1129171 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405593 2405593 C T 280474 single nucleotide variant NM_153818.1(PEX10):c.*173G>A 1129171 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2337032 2337032 C T 280479 single nucleotide variant NM_153818.1(PEX10):c.*10C>T 367845280 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405756 2405756 G A 280479 single nucleotide variant NM_153818.1(PEX10):c.*10C>T 367845280 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2337195 2337195 G A 280483 single nucleotide variant NM_153818.1(PEX10):c.836+8C>T 370594705 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2406712 2406712 G A 280483 single nucleotide variant NM_153818.1(PEX10):c.836+8C>T 370594705 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2338151 2338151 G A 280485 single nucleotide variant NM_153818.1(PEX10):c.771C>T (p.Tyr257=) 761005209 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2406785 2406785 G A 280485 single nucleotide variant NM_153818.1(PEX10):c.771C>T (p.Tyr257=) 761005209 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2338224 2338224 G A 280503 single nucleotide variant NM_153818.1(PEX10):c.316C>T (p.Leu106=) 140340426 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2408736 2408736 G A 280503 single nucleotide variant NM_153818.1(PEX10):c.316C>T (p.Leu106=) 140340426 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2340175 2340175 G A 281776 single nucleotide variant NM_153818.1(PEX10):c.*410G>A 886046144 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405356 2405356 C T 281775 single nucleotide variant NM_153818.1(PEX10):c.*854G>A 556816263 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336351 2336351 C T 281775 single nucleotide variant NM_153818.1(PEX10):c.*854G>A 556816263 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2404912 2404912 C T 281776 single nucleotide variant NM_153818.1(PEX10):c.*410G>A 886046144 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336795 2336795 C T 281778 single nucleotide variant NM_153818.1(PEX10):c.*310G>A 539850807 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405456 2405456 C T 281778 single nucleotide variant NM_153818.1(PEX10):c.*310G>A 539850807 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336895 2336895 C T 281780 single nucleotide variant NM_153818.1(PEX10):c.*16G>A 886046146 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405750 2405750 C T 281780 single nucleotide variant NM_153818.1(PEX10):c.*16G>A 886046146 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2337189 2337189 C T 281791 deletion NM_153818.1(PEX10):c.874_875delCT (p.Leu292Valfs) 61752093 MedGen:C3553947,OMIM:614870;MedGen:C3553948,OMIM:614871;MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2406581 2406582 AG - 281791 deletion NM_153818.1(PEX10):c.874_875delCT (p.Leu292Valfs) 61752093 MedGen:C3553947,OMIM:614870;MedGen:C3553948,OMIM:614871;MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2338020 2338021 AG - 281804 single nucleotide variant NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) 761942658 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2338175 2338175 C T 281804 single nucleotide variant NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) 761942658 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2406736 2406736 C T 281805 single nucleotide variant NM_153818.1(PEX10):c.601-15G>A 369211467 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2406970 2406970 C T 281805 single nucleotide variant NM_153818.1(PEX10):c.601-15G>A 369211467 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2338409 2338409 C T 281806 single nucleotide variant NM_153818.1(PEX10):c.555C>T (p.His185=) 75377471 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2408497 2408497 G A 281806 single nucleotide variant NM_153818.1(PEX10):c.555C>T (p.His185=) 75377471 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2339936 2339936 G A 281810 single nucleotide variant NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) 76530653 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2340073 2340073 C G 281810 single nucleotide variant NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) 76530653 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2408634 2408634 C G 281811 single nucleotide variant NM_153818.1(PEX10):c.280G>A (p.Val94Met) 142626035 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2408772 2408772 C T 281811 single nucleotide variant NM_153818.1(PEX10):c.280G>A (p.Val94Met) 142626035 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2340211 2340211 C T 281812 single nucleotide variant NM_153818.1(PEX10):c.275G>A (p.Arg92His) 375649043 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2408777 2408777 C T 281812 single nucleotide variant NM_153818.1(PEX10):c.275G>A (p.Arg92His) 375649043 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2340216 2340216 C T 281924 single nucleotide variant NM_153818.1(PEX10):c.*499G>A 886046143 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405267 2405267 C T 281924 single nucleotide variant NM_153818.1(PEX10):c.*499G>A 886046143 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336706 2336706 C T 281926 single nucleotide variant NM_153818.1(PEX10):c.*420G>A 868844283 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405346 2405346 C T 281926 single nucleotide variant NM_153818.1(PEX10):c.*420G>A 868844283 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336785 2336785 C T 281935 single nucleotide variant NM_153818.1(PEX10):c.*304C>T 758081067 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405462 2405462 G A 281935 single nucleotide variant NM_153818.1(PEX10):c.*304C>T 758081067 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2336901 2336901 G A 281936 single nucleotide variant NM_153818.1(PEX10):c.*91A>G 886046145 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405675 2405675 T C 281936 single nucleotide variant NM_153818.1(PEX10):c.*91A>G 886046145 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2337114 2337114 T C 281940 single nucleotide variant NM_153818.1(PEX10):c.1037G>A (p.Arg346His) 140890506 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2405770 2405770 C T 281940 single nucleotide variant NM_153818.1(PEX10):c.1037G>A (p.Arg346His) 140890506 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2337209 2337209 C T 281942 deletion NM_153818.1(PEX10):c.-52_-51delTG 570192538 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2412553 2412554 CA - 281942 deletion NM_153818.1(PEX10):c.-52_-51delTG 570192538 MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:C0043459 1 2343992 2343993 CA - 357074 single nucleotide variant NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) 369965266 MedGen:C3553947,OMIM:614870;MedGen:C3553948,OMIM:614871 1 2408700 2408700 G A 357074 single nucleotide variant NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) 369965266 MedGen:C3553947,OMIM:614870;MedGen:C3553948,OMIM:614871 1 2340139 2340139 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 1 2339074 rs2494428 C T rs2494428 9.97E-04 HIV-1 viral setpoint HPOID:0002721 DOID:526 C intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs2494428 1 2339074 2339074 intronic 0.347126 0.459512856125067

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000157911.9 PEX10 602859