Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22819 single nucleotide variant NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) 1805137 MedGen:CN239409;MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789;MedGen:CN221809 6 137219351 137219351 T A 22819 single nucleotide variant NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) 1805137 MedGen:CN239409;MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789;MedGen:CN221809 6 136898213 136898213 T A 22820 single nucleotide variant NM_000288.3(PEX7):c.653C>T (p.Ala218Val) 121909151 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137191047 137191047 C T 22820 single nucleotide variant NM_000288.3(PEX7):c.653C>T (p.Ala218Val) 121909151 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136869909 136869909 C T 22821 single nucleotide variant NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) 121909152 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137191043 137191043 G A 22821 single nucleotide variant NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) 121909152 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136869905 136869905 G A 22822 single nucleotide variant NM_000288.3(PEX7):c.694C>T (p.Arg232Ter) 121909153 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789;MedGen:CN221809 6 137191088 137191088 C T 22822 single nucleotide variant NM_000288.3(PEX7):c.694C>T (p.Arg232Ter) 121909153 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789;MedGen:CN221809 6 136869950 136869950 C T 22823 duplication NM_000288.3(PEX7):c.45_52dupGGGACGCC (p.His18Argfs) 199470486 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143848 137143855 GGGACGCC GGGACGCCGGGACGCC 22823 duplication NM_000288.3(PEX7):c.45_52dupGGGACGCC (p.His18Argfs) 199470486 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822710 136822717 GGGACGCC GGGACGCCGGGACGCC 22824 single nucleotide variant NM_000288.3(PEX7):c.903+1G>C 148591292 MedGen:CN239409;MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137219380 137219380 G C 22824 single nucleotide variant NM_000288.3(PEX7):c.903+1G>C 148591292 MedGen:CN239409;MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136898242 136898242 G C 22825 single nucleotide variant NM_000288.3(PEX7):c.345T>G (p.Tyr115Ter) 121909154 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137166758 137166758 T G 22825 single nucleotide variant NM_000288.3(PEX7):c.345T>G (p.Tyr115Ter) 121909154 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136845620 136845620 T G 22826 single nucleotide variant NM_000288.3(PEX7):c.340-10A>G 267608255 MedGen:CN159238,OMIM:614879;Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137166743 137166743 A G 22826 single nucleotide variant NM_000288.3(PEX7):c.340-10A>G 267608255 MedGen:CN159238,OMIM:614879;Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136845605 136845605 A G 22827 single nucleotide variant NM_000288.3(PEX7):c.120C>G (p.Tyr40Ter) 61753238 MedGen:CN239409;MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143923 137143923 C G 22827 single nucleotide variant NM_000288.3(PEX7):c.120C>G (p.Tyr40Ter) 61753238 MedGen:CN239409;MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822785 136822785 C G 22828 duplication NM_000288.3(PEX7):c.12_18dupGTGCGGT (p.Gly7Valfs) 62636519 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143815 137143821 GTGCGGT GTGCGGTGTGCGGT 22828 duplication NM_000288.3(PEX7):c.12_18dupGTGCGGT (p.Gly7Valfs) 62636519 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822677 136822683 GTGCGGT GTGCGGTGTGCGGT 22829 single nucleotide variant NM_000288.3(PEX7):c.40A>C (p.Thr14Pro) 61753233 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143843 137143843 A C 22829 single nucleotide variant NM_000288.3(PEX7):c.40A>C (p.Thr14Pro) 61753233 MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822705 136822705 A C 47476 single nucleotide variant NM_000288.3(PEX7):c.-45C>T 267608252 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960 6 137143759 137143759 C T 47476 single nucleotide variant NM_000288.3(PEX7):c.-45C>T 267608252 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960 6 136822621 136822621 C T 47477 single nucleotide variant NM_000288.3(PEX7):c.854A>G (p.His285Arg) 62653611 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137219330 137219330 A G 47477 single nucleotide variant NM_000288.3(PEX7):c.854A>G (p.His285Arg) 62653611 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136898192 136898192 A G 186699 single nucleotide variant NM_000288.3(PEX7):c.74C>T (p.Ser25Phe) 61753236 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143877 137143877 C T 186699 single nucleotide variant NM_000288.3(PEX7):c.74C>T (p.Ser25Phe) 61753236 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822739 136822739 C T 186700 single nucleotide variant NM_000288.3(PEX7):c.188+1G>C 267608254 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137146410 137146410 G C 186700 single nucleotide variant NM_000288.3(PEX7):c.188+1G>C 267608254 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136825272 136825272 G C 186701 single nucleotide variant NM_000288.3(PEX7):c.400G>A (p.Asp134Asn) 764346452 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137166813 137166813 G A 186701 single nucleotide variant NM_000288.3(PEX7):c.400G>A (p.Asp134Asn) 764346452 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136845675 136845675 G A 186702 single nucleotide variant NM_000288.3(PEX7):c.618G>A (p.Trp206Ter) 61753245 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137187856 137187856 G A 186702 single nucleotide variant NM_000288.3(PEX7):c.618G>A (p.Trp206Ter) 61753245 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136866718 136866718 G A 190242 single nucleotide variant NM_000288.3(PEX7):c.130+10C>A 794726882 MedGen:CN169374 6 137143943 137143943 C A 190242 single nucleotide variant NM_000288.3(PEX7):c.130+10C>A 794726882 MedGen:CN169374 6 136822805 136822805 C A 195227 single nucleotide variant NM_000288.3(PEX7):c.576C>T (p.Ile192=) 776411851 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529;MedGen:CN169374 6 137187814 137187814 C T 195227 single nucleotide variant NM_000288.3(PEX7):c.576C>T (p.Ile192=) 776411851 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529;MedGen:CN169374 6 136866676 136866676 C T 195871 duplication NM_000288.3(PEX7):c.748-5dupT 797044785 MedGen:CN169374 6 137193331 137193331 T TT 195871 duplication NM_000288.3(PEX7):c.748-5dupT 797044785 MedGen:CN169374 6 136872193 136872193 T TT 195872 deletion NM_000288.3(PEX7):c.748-5delT 794727899 MedGen:CN169374 6 137193331 137193331 T - 195872 deletion NM_000288.3(PEX7):c.748-5delT 794727899 MedGen:CN169374 6 136872193 136872193 T - 196167 single nucleotide variant NM_000288.3(PEX7):c.886C>T (p.Leu296Phe) 760967879 MedGen:CN169374 6 137219362 137219362 C T 196167 single nucleotide variant NM_000288.3(PEX7):c.886C>T (p.Leu296Phe) 760967879 MedGen:CN169374 6 136898224 136898224 C T 252144 single nucleotide variant NM_000288.3(PEX7):c.-31G>A 115866467 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529;MedGen:CN169374 6 136822635 136822635 G A 252144 single nucleotide variant NM_000288.3(PEX7):c.-31G>A 115866467 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529;MedGen:CN169374 6 137143773 137143773 G A 252145 single nucleotide variant NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) 113268723 MedGen:CN169374 6 136845652 136845652 A C 252145 single nucleotide variant NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) 113268723 MedGen:CN169374 6 137166790 137166790 A C 275145 single nucleotide variant NM_000288.3(PEX7):c.330C>T (p.His110=) 199648976 MedGen:CN169374 6 137147598 137147598 C T 275145 single nucleotide variant NM_000288.3(PEX7):c.330C>T (p.His110=) 199648976 MedGen:CN169374 6 136826460 136826460 C T 275439 single nucleotide variant NM_000288.3(PEX7):c.339+10A>G 374668045 MedGen:CN169374 6 137147617 137147617 A G 275439 single nucleotide variant NM_000288.3(PEX7):c.339+10A>G 374668045 MedGen:CN169374 6 136826479 136826479 A G 299171 single nucleotide variant NM_000288.3(PEX7):c.-91G>A 772358439 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143713 137143713 G A 299171 single nucleotide variant NM_000288.3(PEX7):c.-91G>A 772358439 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822575 136822575 G A 299175 single nucleotide variant NM_000288.3(PEX7):c.-77T>C 1321472 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143727 137143727 T C 299175 single nucleotide variant NM_000288.3(PEX7):c.-77T>C 1321472 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822589 136822589 T C 299176 single nucleotide variant NM_000288.3(PEX7):c.-28G>A 376808803 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143776 137143776 G A 299176 single nucleotide variant NM_000288.3(PEX7):c.-28G>A 376808803 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822638 136822638 G A 299180 single nucleotide variant NM_000288.3(PEX7):c.188+3A>G 200234391 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136825274 136825274 A G 299180 single nucleotide variant NM_000288.3(PEX7):c.188+3A>G 200234391 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137146412 137146412 A G 299188 single nucleotide variant NM_000288.3(PEX7):c.941A>G (p.Tyr314Cys) 201106072 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913495 136913495 A G 299188 single nucleotide variant NM_000288.3(PEX7):c.941A>G (p.Tyr314Cys) 201106072 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234633 137234633 A G 299189 single nucleotide variant NM_000288.3(PEX7):c.*305C>A 567568009 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913831 136913831 C A 299189 single nucleotide variant NM_000288.3(PEX7):c.*305C>A 567568009 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234969 137234969 C A 299194 single nucleotide variant NM_000288.3(PEX7):c.*367T>C 886061124 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913893 136913893 T C 299194 single nucleotide variant NM_000288.3(PEX7):c.*367T>C 886061124 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137235031 137235031 T C 301586 single nucleotide variant NM_000288.3(PEX7):c.94C>T (p.Leu32=) 886061118 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143897 137143897 C T 301586 single nucleotide variant NM_000288.3(PEX7):c.94C>T (p.Leu32=) 886061118 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822759 136822759 C T 301589 single nucleotide variant NM_000288.3(PEX7):c.130+11G>T 886061119 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143944 137143944 G T 301589 single nucleotide variant NM_000288.3(PEX7):c.130+11G>T 886061119 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822806 136822806 G T 301590 single nucleotide variant NM_000288.3(PEX7):c.130+13C>A 886061120 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143946 137143946 C A 301590 single nucleotide variant NM_000288.3(PEX7):c.130+13C>A 886061120 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822808 136822808 C A 301591 single nucleotide variant NM_000288.3(PEX7):c.418-4G>T 199552223 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136846069 136846069 G T 301591 single nucleotide variant NM_000288.3(PEX7):c.418-4G>T 199552223 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137167207 137167207 G T 301592 single nucleotide variant NM_000288.3(PEX7):c.737G>A (p.Arg246Lys) 780186421 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136869993 136869993 G A 301592 single nucleotide variant NM_000288.3(PEX7):c.737G>A (p.Arg246Lys) 780186421 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137191131 137191131 G A 301593 insertion NM_000288.3(PEX7):c.*257_*258insAGT 1801001 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913783 136913784 - AGT 301593 insertion NM_000288.3(PEX7):c.*257_*258insAGT 1801001 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234921 137234922 - AGT 301608 deletion NM_000288.3(PEX7):c.*305_*310delCTTATA 886061123 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913831 136913836 CTTATA - 301608 deletion NM_000288.3(PEX7):c.*305_*310delCTTATA 886061123 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234969 137234974 CTTATA - 301612 single nucleotide variant NM_000288.3(PEX7):c.*306T>G 1050803 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913832 136913832 T G 301612 single nucleotide variant NM_000288.3(PEX7):c.*306T>G 1050803 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234970 137234970 T G 305982 single nucleotide variant NM_000288.3(PEX7):c.-56C>T 73777751 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143748 137143748 C T 305982 single nucleotide variant NM_000288.3(PEX7):c.-56C>T 73777751 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822610 136822610 C T 305983 single nucleotide variant NM_000288.3(PEX7):c.-35G>A 886061116 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143769 137143769 G A 305983 single nucleotide variant NM_000288.3(PEX7):c.-35G>A 886061116 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822631 136822631 G A 305994 single nucleotide variant NM_000288.3(PEX7):c.-3G>A 886061117 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143801 137143801 G A 305994 single nucleotide variant NM_000288.3(PEX7):c.-3G>A 886061117 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822663 136822663 G A 305997 single nucleotide variant NM_000288.3(PEX7):c.615C>T (p.Asp205=) 147298444 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136866715 136866715 C T 305997 single nucleotide variant NM_000288.3(PEX7):c.615C>T (p.Asp205=) 147298444 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137187853 137187853 C T 306284 single nucleotide variant NM_000288.3(PEX7):c.-88T>C 886061115 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137143716 137143716 T C 306284 single nucleotide variant NM_000288.3(PEX7):c.-88T>C 886061115 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136822578 136822578 T C 306285 single nucleotide variant NM_000288.3(PEX7):c.316G>C (p.Val106Leu) 886061121 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136826446 136826446 G C 306285 single nucleotide variant NM_000288.3(PEX7):c.316G>C (p.Val106Leu) 886061121 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137147584 137147584 G C 306298 single nucleotide variant NM_000288.3(PEX7):c.748-10T>C 886061122 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136872188 136872188 T C 306298 single nucleotide variant NM_000288.3(PEX7):c.748-10T>C 886061122 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137193326 137193326 T C 306301 single nucleotide variant NM_000288.3(PEX7):c.804-5C>T 369653173 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136898137 136898137 C T 306301 single nucleotide variant NM_000288.3(PEX7):c.804-5C>T 369653173 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137219275 137219275 C T 306302 single nucleotide variant NM_000288.3(PEX7):c.961A>G (p.Ile321Val) 879706210 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913515 136913515 A G 306302 single nucleotide variant NM_000288.3(PEX7):c.961A>G (p.Ile321Val) 879706210 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234653 137234653 A G 306304 single nucleotide variant NM_000288.3(PEX7):c.*38G>A 41288965 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913564 136913564 G A 306304 single nucleotide variant NM_000288.3(PEX7):c.*38G>A 41288965 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234702 137234702 G A 306305 single nucleotide variant NM_000288.3(PEX7):c.*272A>G 186705952 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913798 136913798 A G 306305 single nucleotide variant NM_000288.3(PEX7):c.*272A>G 186705952 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234936 137234936 A G 306306 single nucleotide variant NM_000288.3(PEX7):c.*305C>T 567568009 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 136913831 136913831 C T 306306 single nucleotide variant NM_000288.3(PEX7):c.*305C>T 567568009 Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:C0034960;MedGen:C0282529,Orphanet:ORPHA177,SNOMED CT:C0282529 6 137234969 137234969 C T 357420 duplication NM_000288.3(PEX7):c.13_19dupTGCGGTG (p.Gly7Valfs) 1057516641 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822678 136822684 TGCGGTG TGCGGTGTGCGGTG 357420 duplication NM_000288.3(PEX7):c.13_19dupTGCGGTG (p.Gly7Valfs) 1057516641 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143816 137143822 TGCGGTG TGCGGTGTGCGGTG 357421 deletion NM_000288.3(PEX7):c.31_56del26 (p.Met11Leufs) 1057516961 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143834 137143859 na na 357421 deletion NM_000288.3(PEX7):c.31_56del26 (p.Met11Leufs) 1057516961 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822696 136822721 na na 357422 single nucleotide variant NM_000288.3(PEX7):c.60C>G (p.Tyr20Ter) 1057516882 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143863 137143863 C G 357422 single nucleotide variant NM_000288.3(PEX7):c.60C>G (p.Tyr20Ter) 1057516882 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822725 136822725 C G 357423 single nucleotide variant NM_000288.3(PEX7):c.81C>G (p.Tyr27Ter) 1057516737 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143884 137143884 C G 357423 single nucleotide variant NM_000288.3(PEX7):c.81C>G (p.Tyr27Ter) 1057516737 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822746 136822746 C G 357424 single nucleotide variant NM_000288.3(PEX7):c.130+1G>C 267608253 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137143934 137143934 G C 357424 single nucleotide variant NM_000288.3(PEX7):c.130+1G>C 267608253 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136822796 136822796 G C 357425 single nucleotide variant NM_000288.3(PEX7):c.277C>T (p.Gln93Ter) 763514968 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137147545 137147545 C T 357425 single nucleotide variant NM_000288.3(PEX7):c.277C>T (p.Gln93Ter) 763514968 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136826407 136826407 C T 357426 single nucleotide variant NM_000288.3(PEX7):c.334C>T (p.Gln112Ter) 62653604 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137147602 137147602 C T 357426 single nucleotide variant NM_000288.3(PEX7):c.334C>T (p.Gln112Ter) 62653604 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136826464 136826464 C T 357427 single nucleotide variant NM_000288.3(PEX7):c.339+2T>C 1057517059 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136826471 136826471 T C 357427 single nucleotide variant NM_000288.3(PEX7):c.339+2T>C 1057517059 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137147609 137147609 T C 357428 deletion NM_000288.3(PEX7):c.508delT (p.Cys170Valfs) 1057516827 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137167301 137167301 T - 357428 deletion NM_000288.3(PEX7):c.508delT (p.Cys170Valfs) 1057516827 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136846163 136846163 T - 357429 single nucleotide variant NM_000288.3(PEX7):c.527-2A>G 1057517339 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136866625 136866625 A G 357429 single nucleotide variant NM_000288.3(PEX7):c.527-2A>G 1057517339 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137187763 137187763 A G 357430 duplication NM_000288.3(PEX7):c.545dupT (p.Trp183Metfs) 1057516574 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136866645 136866645 T TT 357430 duplication NM_000288.3(PEX7):c.545dupT (p.Trp183Metfs) 1057516574 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137187783 137187783 T TT 357431 single nucleotide variant NM_000288.3(PEX7):c.633+1G>A 1057516989 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136866734 136866734 G A 357431 single nucleotide variant NM_000288.3(PEX7):c.633+1G>A 1057516989 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137187872 137187872 G A 357432 deletion NM_000288.3(PEX7):c.736_747+17del29 1057517257 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137191130 137191158 na na 357432 deletion NM_000288.3(PEX7):c.736_747+17del29 1057517257 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136869992 136870020 na na 357433 single nucleotide variant NM_000288.3(PEX7):c.748-2A>G 778862698 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136872196 136872196 A G 357433 single nucleotide variant NM_000288.3(PEX7):c.748-2A>G 778862698 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137193334 137193334 A G 357434 deletion NM_000288.3(PEX7):c.774_784delGGCCTCTTGCT (p.Ala259Valfs) 1057516824 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 137193362 137193372 GGCCTCTTGCT - 357434 deletion NM_000288.3(PEX7):c.774_784delGGCCTCTTGCT (p.Ala259Valfs) 1057516824 MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789 6 136872224 136872234 GGCCTCTTGCT -

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 6 137209591 rs2327766 A G rs2327766 8.22E-05 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 6 137164622 rs9402850 G T rs9402850 0.00029 Coronary artery calcification HPOID:0001677 DOID:3393 G intron GWASdb_trait 6 137185164 rs9373174 G A rs9373174 1.22E-04 Diabetic nephropathy HPOID:0000819|HPOID:0000112 DOID:783|DOID:9352 G intron GWASdb_trait 6 137185293 rs1474987 A G rs1474987 9.20E-05 Diabetic nephropathy HPOID:0000819|HPOID:0000112 DOID:783|DOID:9352 T intron GWASdb_trait 6 137209591 rs2327766 A G rs2327766 8.22E-05 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000112357.12 PEX7 601757