Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22389 single nucleotide variant NM_001099679.1(TRIM32):c.1459G>A (p.Asp487Asn) 111033570 Human Phenotype Ontology:HP:0003198,MedGen:CN002886;MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968 9 119461480 119461480 G A 22389 single nucleotide variant NM_001099679.1(TRIM32):c.1459G>A (p.Asp487Asn) 111033570 Human Phenotype Ontology:HP:0003198,MedGen:CN002886;MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968 9 116699201 116699201 G A 22390 single nucleotide variant NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser) 111033571 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:C1859569,OMIM:615988 9 119460409 119460409 C T 22390 single nucleotide variant NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser) 111033571 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:C1859569,OMIM:615988 9 116698130 116698130 C T 22391 deletion TRIM32, 1-BP DEL, 1559C -1 MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968 na -1 -1 na na 22392 single nucleotide variant NM_012210.3(TRIM32):c.1181G>A (p.Arg394His) 121434447 MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968;MedGen:CN169374 9 119461202 119461202 G A 22392 single nucleotide variant NM_012210.3(TRIM32):c.1181G>A (p.Arg394His) 121434447 MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968;MedGen:CN169374 9 116698923 116698923 G A 101392 single nucleotide variant NM_012210.3(TRIM32):c.*1G>A 142781513 MedGen:CN169374 9 119461984 119461984 G A 101392 single nucleotide variant NM_012210.3(TRIM32):c.*1G>A 142781513 MedGen:CN169374 9 116699705 116699705 G A 101393 single nucleotide variant NM_012210.3(TRIM32):c.1226G>A (p.Arg409His) 145828717 MedGen:CN169374 9 119461247 119461247 G A 101393 single nucleotide variant NM_012210.3(TRIM32):c.1226G>A (p.Arg409His) 145828717 MedGen:CN169374 9 116698968 116698968 G A 101394 single nucleotide variant NM_012210.3(TRIM32):c.1254G>A (p.Val418=) 1661300 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 119461275 119461275 G A 101394 single nucleotide variant NM_012210.3(TRIM32):c.1254G>A (p.Val418=) 1661300 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 116698996 116698996 G A 101395 single nucleotide variant NM_012210.3(TRIM32):c.1458C>T (p.Thr486=) 141965401 MedGen:CN169374 9 119461479 119461479 C T 101395 single nucleotide variant NM_012210.3(TRIM32):c.1458C>T (p.Thr486=) 141965401 MedGen:CN169374 9 116699200 116699200 C T 101396 single nucleotide variant NM_012210.3(TRIM32):c.276C>T (p.Ser92=) 140589523 MedGen:CN169374 9 119460297 119460297 C T 101396 single nucleotide variant NM_012210.3(TRIM32):c.276C>T (p.Ser92=) 140589523 MedGen:CN169374 9 116698018 116698018 C T 101397 single nucleotide variant NM_012210.3(TRIM32):c.501G>A (p.Lys167=) 200085883 MedGen:CN169374 9 119460522 119460522 G A 101397 single nucleotide variant NM_012210.3(TRIM32):c.501G>A (p.Lys167=) 200085883 MedGen:CN169374 9 116698243 116698243 G A 101398 single nucleotide variant NM_012210.3(TRIM32):c.678C>T (p.Tyr226=) 398124253 MedGen:CN169374 9 119460699 119460699 C T 101398 single nucleotide variant NM_012210.3(TRIM32):c.678C>T (p.Tyr226=) 398124253 MedGen:CN169374 9 116698420 116698420 C T 106460 single nucleotide variant NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) 3747835 MedGen:CN221809;MedGen:CN169374 9 119461243 119461243 C T 106460 single nucleotide variant NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) 3747835 MedGen:CN221809;MedGen:CN169374 9 116698964 116698964 C T 177127 single nucleotide variant NM_012210.3(TRIM32):c.257T>C (p.Ile86Thr) 200326473 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN169374 9 119460278 119460278 T C 177127 single nucleotide variant NM_012210.3(TRIM32):c.257T>C (p.Ile86Thr) 200326473 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN169374 9 116697999 116697999 T C 192440 single nucleotide variant NM_012210.3(TRIM32):c.938C>T (p.Ala313Val) 794727284 MedGen:CN169374 9 119460959 119460959 C T 192440 single nucleotide variant NM_012210.3(TRIM32):c.938C>T (p.Ala313Val) 794727284 MedGen:CN169374 9 116698680 116698680 C T 192441 single nucleotide variant NM_012210.3(TRIM32):c.558G>C (p.Gln186His) 117599771 MedGen:CN169374 9 119460579 119460579 G C 192441 single nucleotide variant NM_012210.3(TRIM32):c.558G>C (p.Gln186His) 117599771 MedGen:CN169374 9 116698300 116698300 G C 192442 single nucleotide variant NM_012210.3(TRIM32):c.480G>A (p.Met160Ile) 200196832 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 119460501 119460501 G A 192442 single nucleotide variant NM_012210.3(TRIM32):c.480G>A (p.Met160Ile) 200196832 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 116698222 116698222 G A 192443 single nucleotide variant NM_012210.3(TRIM32):c.1954A>G (p.Thr652Ala) 763172140 MedGen:CN169374 9 119461975 119461975 A G 192443 single nucleotide variant NM_012210.3(TRIM32):c.1954A>G (p.Thr652Ala) 763172140 MedGen:CN169374 9 116699696 116699696 A G 192444 single nucleotide variant NM_012210.3(TRIM32):c.633T>C (p.Ala211=) 753960738 MedGen:CN169374 9 119460654 119460654 T C 192444 single nucleotide variant NM_012210.3(TRIM32):c.633T>C (p.Ala211=) 753960738 MedGen:CN169374 9 116698375 116698375 T C 192445 single nucleotide variant NM_012210.3(TRIM32):c.1134C>T (p.Tyr378=) 776448126 MedGen:CN169374 9 119461155 119461155 C T 192445 single nucleotide variant NM_012210.3(TRIM32):c.1134C>T (p.Tyr378=) 776448126 MedGen:CN169374 9 116698876 116698876 C T 192446 single nucleotide variant NM_012210.3(TRIM32):c.1780A>G (p.Ser594Gly) 757524831 MedGen:CN169374 9 119461801 119461801 A G 192446 single nucleotide variant NM_012210.3(TRIM32):c.1780A>G (p.Ser594Gly) 757524831 MedGen:CN169374 9 116699522 116699522 A G 253281 single nucleotide variant NM_012210.3(TRIM32):c.770C>G (p.Thr257Arg) 3747834 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 116698512 116698512 C G 253281 single nucleotide variant NM_012210.3(TRIM32):c.770C>G (p.Thr257Arg) 3747834 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 119460791 119460791 C G 253282 single nucleotide variant NM_012210.3(TRIM32):c.1710G>A (p.Ser570=) 555217187 MedGen:CN169374 9 116699452 116699452 G A 253282 single nucleotide variant NM_012210.3(TRIM32):c.1710G>A (p.Ser570=) 555217187 MedGen:CN169374 9 119461731 119461731 G A 265288 single nucleotide variant NM_012210.3(TRIM32):c.339G>C (p.Arg113=) 150477945 MedGen:CN169374 9 119460360 119460360 G C 265288 single nucleotide variant NM_012210.3(TRIM32):c.339G>C (p.Arg113=) 150477945 MedGen:CN169374 9 116698081 116698081 G C 266394 single nucleotide variant NM_012210.3(TRIM32):c.1162G>A (p.Ala388Thr) 886042328 MedGen:CN169374 9 119461183 119461183 G A 266394 single nucleotide variant NM_012210.3(TRIM32):c.1162G>A (p.Ala388Thr) 886042328 MedGen:CN169374 9 116698904 116698904 G A 266541 single nucleotide variant NM_012210.3(TRIM32):c.-5G>A 774975492 MedGen:CN169374 9 119460017 119460017 G A 266541 single nucleotide variant NM_012210.3(TRIM32):c.-5G>A 774975492 MedGen:CN169374 9 116697738 116697738 G A 266678 single nucleotide variant NM_012210.3(TRIM32):c.201T>C (p.Ile67=) 780799984 MedGen:CN169374 9 119460222 119460222 T C 266678 single nucleotide variant NM_012210.3(TRIM32):c.201T>C (p.Ile67=) 780799984 MedGen:CN169374 9 116697943 116697943 T C 266729 single nucleotide variant NM_012210.3(TRIM32):c.319C>T (p.Leu107=) 886042410 MedGen:CN169374 9 119460340 119460340 C T 266729 single nucleotide variant NM_012210.3(TRIM32):c.319C>T (p.Leu107=) 886042410 MedGen:CN169374 9 116698061 116698061 C T 266859 single nucleotide variant NM_012210.3(TRIM32):c.1199G>A (p.Arg400His) 373015960 MedGen:CN169374 9 119461220 119461220 G A 266859 single nucleotide variant NM_012210.3(TRIM32):c.1199G>A (p.Arg400His) 373015960 MedGen:CN169374 9 116698941 116698941 G A 267301 single nucleotide variant NM_012210.3(TRIM32):c.1834A>T (p.Ile612Phe) 886042548 MedGen:CN169374 9 119461855 119461855 A T 267301 single nucleotide variant NM_012210.3(TRIM32):c.1834A>T (p.Ile612Phe) 886042548 MedGen:CN169374 9 116699576 116699576 A T 267710 single nucleotide variant NM_012210.3(TRIM32):c.370C>T (p.Arg124Trp) 572052810 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 116698112 116698112 C T 267710 single nucleotide variant NM_012210.3(TRIM32):c.370C>T (p.Arg124Trp) 572052810 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352;MedGen:CN169374 9 119460391 119460391 C T 268181 single nucleotide variant NM_012210.3(TRIM32):c.1354C>T (p.Leu452Phe) 747067557 MedGen:CN169374 9 119461375 119461375 C T 268181 single nucleotide variant NM_012210.3(TRIM32):c.1354C>T (p.Leu452Phe) 747067557 MedGen:CN169374 9 116699096 116699096 C T 268296 single nucleotide variant NM_012210.3(TRIM32):c.986C>T (p.Pro329Leu) 377510422 MedGen:CN169374 9 119461007 119461007 C T 268296 single nucleotide variant NM_012210.3(TRIM32):c.986C>T (p.Pro329Leu) 377510422 MedGen:CN169374 9 116698728 116698728 C T 268533 single nucleotide variant NM_012210.3(TRIM32):c.6T>G (p.Ala2=) 141352486 MedGen:CN169374 9 119460027 119460027 T G 268533 single nucleotide variant NM_012210.3(TRIM32):c.6T>G (p.Ala2=) 141352486 MedGen:CN169374 9 116697748 116697748 T G 268916 single nucleotide variant NM_012210.3(TRIM32):c.98G>A (p.Arg33His) 199863390 MedGen:CN169374 9 119460119 119460119 G A 268916 single nucleotide variant NM_012210.3(TRIM32):c.98G>A (p.Arg33His) 199863390 MedGen:CN169374 9 116697840 116697840 G A 269018 single nucleotide variant NM_012210.3(TRIM32):c.1223G>A (p.Arg408His) 183136193 MedGen:CN169374 9 119461244 119461244 G A 269018 single nucleotide variant NM_012210.3(TRIM32):c.1223G>A (p.Arg408His) 183136193 MedGen:CN169374 9 116698965 116698965 G A 269313 single nucleotide variant NM_012210.3(TRIM32):c.1140C>T (p.Thr380=) 142715198 MedGen:CN169374 9 119461161 119461161 C T 269313 single nucleotide variant NM_012210.3(TRIM32):c.1140C>T (p.Thr380=) 142715198 MedGen:CN169374 9 116698882 116698882 C T 269464 single nucleotide variant NM_012210.3(TRIM32):c.467T>C (p.Leu156Pro) 145907585 MedGen:CN169374 9 119460488 119460488 T C 269464 single nucleotide variant NM_012210.3(TRIM32):c.467T>C (p.Leu156Pro) 145907585 MedGen:CN169374 9 116698209 116698209 T C 269465 single nucleotide variant NM_012210.3(TRIM32):c.1856C>G (p.Pro619Arg) 886043050 MedGen:CN169374 9 119461877 119461877 C G 269465 single nucleotide variant NM_012210.3(TRIM32):c.1856C>G (p.Pro619Arg) 886043050 MedGen:CN169374 9 116699598 116699598 C G 269813 single nucleotide variant NM_012210.3(TRIM32):c.1838G>A (p.Arg613Gln) 199704873 MedGen:CN169374 9 119461859 119461859 G A 269813 single nucleotide variant NM_012210.3(TRIM32):c.1838G>A (p.Arg613Gln) 199704873 MedGen:CN169374 9 116699580 116699580 G A 269950 single nucleotide variant NM_012210.3(TRIM32):c.1004G>A (p.Ser335Asn) 778321975 MedGen:CN169374 9 119461025 119461025 G A 269950 single nucleotide variant NM_012210.3(TRIM32):c.1004G>A (p.Ser335Asn) 778321975 MedGen:CN169374 9 116698746 116698746 G A 270068 single nucleotide variant NM_012210.3(TRIM32):c.524A>G (p.Lys175Arg) 777911858 MedGen:CN169374 9 119460545 119460545 A G 270068 single nucleotide variant NM_012210.3(TRIM32):c.524A>G (p.Lys175Arg) 777911858 MedGen:CN169374 9 116698266 116698266 A G 270494 single nucleotide variant NM_012210.3(TRIM32):c.1579G>A (p.Val527Ile) 368901621 MedGen:CN169374 9 119461600 119461600 G A 270494 single nucleotide variant NM_012210.3(TRIM32):c.1579G>A (p.Val527Ile) 368901621 MedGen:CN169374 9 116699321 116699321 G A 271264 single nucleotide variant NM_012210.3(TRIM32):c.700C>A (p.Gln234Lys) 886043553 MedGen:CN169374 9 119460721 119460721 C A 271264 single nucleotide variant NM_012210.3(TRIM32):c.700C>A (p.Gln234Lys) 886043553 MedGen:CN169374 9 116698442 116698442 C A 272416 single nucleotide variant NM_012210.3(TRIM32):c.330A>G (p.Gln110=) 770015462 MedGen:CN169374 9 119460351 119460351 A G 272416 single nucleotide variant NM_012210.3(TRIM32):c.330A>G (p.Gln110=) 770015462 MedGen:CN169374 9 116698072 116698072 A G 272530 single nucleotide variant NM_012210.3(TRIM32):c.1659C>G (p.Gly553=) 150318692 MedGen:CN169374 9 119461680 119461680 C G 272530 single nucleotide variant NM_012210.3(TRIM32):c.1659C>G (p.Gly553=) 150318692 MedGen:CN169374 9 116699401 116699401 C G 272609 single nucleotide variant NM_012210.3(TRIM32):c.404C>T (p.Thr135Ile) 141953092 MedGen:CN169374 9 116698146 116698146 C T 272609 single nucleotide variant NM_012210.3(TRIM32):c.404C>T (p.Thr135Ile) 141953092 MedGen:CN169374 9 119460425 119460425 C T 272626 single nucleotide variant NM_012210.3(TRIM32):c.1848T>C (p.Leu616=) 886043881 MedGen:CN169374 9 119461869 119461869 T C 272626 single nucleotide variant NM_012210.3(TRIM32):c.1848T>C (p.Leu616=) 886043881 MedGen:CN169374 9 116699590 116699590 T C 272672 single nucleotide variant NM_012210.3(TRIM32):c.1387G>C (p.Ala463Pro) 886043897 MedGen:CN169374 9 119461408 119461408 G C 272672 single nucleotide variant NM_012210.3(TRIM32):c.1387G>C (p.Ala463Pro) 886043897 MedGen:CN169374 9 116699129 116699129 G C 272736 single nucleotide variant NM_012210.3(TRIM32):c.939G>A (p.Ala313=) 375442860 MedGen:CN169374 9 119460960 119460960 G A 272736 single nucleotide variant NM_012210.3(TRIM32):c.939G>A (p.Ala313=) 375442860 MedGen:CN169374 9 116698681 116698681 G A 272895 single nucleotide variant NM_012210.3(TRIM32):c.521C>T (p.Ser174Phe) 138699534 MedGen:CN169374 9 119460542 119460542 C T 272895 single nucleotide variant NM_012210.3(TRIM32):c.521C>T (p.Ser174Phe) 138699534 MedGen:CN169374 9 116698263 116698263 C T 273032 single nucleotide variant NM_012210.3(TRIM32):c.1180C>T (p.Arg394Cys) 886044008 MedGen:CN169374 9 119461201 119461201 C T 273032 single nucleotide variant NM_012210.3(TRIM32):c.1180C>T (p.Arg394Cys) 886044008 MedGen:CN169374 9 116698922 116698922 C T 273056 single nucleotide variant NM_012210.3(TRIM32):c.24C>A (p.His8Gln) 774511117 MedGen:CN169374 9 119460045 119460045 C A 273056 single nucleotide variant NM_012210.3(TRIM32):c.24C>A (p.His8Gln) 774511117 MedGen:CN169374 9 116697766 116697766 C A 273091 single nucleotide variant NM_012210.3(TRIM32):c.1648T>C (p.Phe550Leu) 752860146 MedGen:CN169374 9 119461669 119461669 T C 273091 single nucleotide variant NM_012210.3(TRIM32):c.1648T>C (p.Phe550Leu) 752860146 MedGen:CN169374 9 116699390 116699390 T C 273287 single nucleotide variant NM_012210.3(TRIM32):c.1786C>T (p.Arg596Cys) 765348678 MedGen:CN169374 9 119461807 119461807 C T 273287 single nucleotide variant NM_012210.3(TRIM32):c.1786C>T (p.Arg596Cys) 765348678 MedGen:CN169374 9 116699528 116699528 C T 273403 deletion NM_012210.3(TRIM32):c.1569_1575delTGAGGGC (p.Glu524Profs) 886044106 - 9 119461590 119461596 TGAGGGC - 273403 deletion NM_012210.3(TRIM32):c.1569_1575delTGAGGGC (p.Glu524Profs) 886044106 - 9 116699311 116699317 TGAGGGC - 273405 single nucleotide variant NM_012210.3(TRIM32):c.1124T>G (p.Val375Gly) 886044107 MedGen:CN169374 9 119461145 119461145 T G 273405 single nucleotide variant NM_012210.3(TRIM32):c.1124T>G (p.Val375Gly) 886044107 MedGen:CN169374 9 116698866 116698866 T G 273579 single nucleotide variant NM_012210.3(TRIM32):c.292C>A (p.Leu98Ile) 201877419 MedGen:CN169374 9 119460313 119460313 C A 273579 single nucleotide variant NM_012210.3(TRIM32):c.292C>A (p.Leu98Ile) 201877419 MedGen:CN169374 9 116698034 116698034 C A 273798 single nucleotide variant NM_012210.3(TRIM32):c.1178A>G (p.Tyr393Cys) 886044206 MedGen:CN169374 9 119461199 119461199 A G 273798 single nucleotide variant NM_012210.3(TRIM32):c.1178A>G (p.Tyr393Cys) 886044206 MedGen:CN169374 9 116698920 116698920 A G 274453 single nucleotide variant NM_012210.3(TRIM32):c.90G>A (p.Glu30=) 534259071 MedGen:CN169374 9 119460111 119460111 G A 274453 single nucleotide variant NM_012210.3(TRIM32):c.90G>A (p.Glu30=) 534259071 MedGen:CN169374 9 116697832 116697832 G A 274562 single nucleotide variant NM_012210.3(TRIM32):c.464G>A (p.Arg155His) 777914761 MedGen:CN169374 9 119460485 119460485 G A 274562 single nucleotide variant NM_012210.3(TRIM32):c.464G>A (p.Arg155His) 777914761 MedGen:CN169374 9 116698206 116698206 G A 274685 single nucleotide variant NM_012210.3(TRIM32):c.693A>C (p.Ala231=) 368455215 MedGen:CN169374 9 116698435 116698435 A C 274685 single nucleotide variant NM_012210.3(TRIM32):c.693A>C (p.Ala231=) 368455215 MedGen:CN169374 9 119460714 119460714 A C 274698 single nucleotide variant NM_012210.3(TRIM32):c.430G>A (p.Glu144Lys) 760202414 MedGen:CN169374 9 119460451 119460451 G A 274698 single nucleotide variant NM_012210.3(TRIM32):c.430G>A (p.Glu144Lys) 760202414 MedGen:CN169374 9 116698172 116698172 G A 274715 single nucleotide variant NM_012210.3(TRIM32):c.873T>G (p.Ile291Met) 766687896 MedGen:CN169374 9 119460894 119460894 T G 274715 single nucleotide variant NM_012210.3(TRIM32):c.873T>G (p.Ile291Met) 766687896 MedGen:CN169374 9 116698615 116698615 T G 274857 duplication NM_012210.3(TRIM32):c.918dupC (p.Trp307Leufs) 886044509 - 9 119460939 119460939 C CC 274857 duplication NM_012210.3(TRIM32):c.918dupC (p.Trp307Leufs) 886044509 - 9 116698660 116698660 C CC 275150 single nucleotide variant NM_012210.3(TRIM32):c.238C>T (p.Leu80=) 760820148 MedGen:CN169374 9 119460259 119460259 C T 275150 single nucleotide variant NM_012210.3(TRIM32):c.238C>T (p.Leu80=) 760820148 MedGen:CN169374 9 116697980 116697980 C T 275235 single nucleotide variant NM_012210.3(TRIM32):c.1727G>A (p.Arg576His) 769518349 MedGen:CN169374 9 119461748 119461748 G A 275235 single nucleotide variant NM_012210.3(TRIM32):c.1727G>A (p.Arg576His) 769518349 MedGen:CN169374 9 116699469 116699469 G A 275459 single nucleotide variant NM_012210.3(TRIM32):c.509T>A (p.Leu170Ter) 886044692 MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968 9 119460530 119460530 T A 275459 single nucleotide variant NM_012210.3(TRIM32):c.509T>A (p.Leu170Ter) 886044692 MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:C0270968 9 116698251 116698251 T A 306568 single nucleotide variant NM_012210.3(TRIM32):c.-109T>C 886063378 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116687354 116687354 T C 306568 single nucleotide variant NM_012210.3(TRIM32):c.-109T>C 886063378 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119449633 119449633 T C 306569 single nucleotide variant NM_012210.3(TRIM32):c.27G>C (p.Leu9=) 201891227 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116697769 116697769 G C 306569 single nucleotide variant NM_012210.3(TRIM32):c.27G>C (p.Leu9=) 201891227 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119460048 119460048 G C 306571 single nucleotide variant NM_012210.3(TRIM32):c.*512A>T 144172952 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700216 116700216 A T 306571 single nucleotide variant NM_012210.3(TRIM32):c.*512A>T 144172952 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462495 119462495 A T 306582 deletion NM_012210.3(TRIM32):c.*811delG 886063382 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700515 116700515 G - 306582 deletion NM_012210.3(TRIM32):c.*811delG 886063382 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462794 119462794 G - 306588 single nucleotide variant NM_012210.3(TRIM32):c.*1077C>T 41266677 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700781 116700781 C T 306588 single nucleotide variant NM_012210.3(TRIM32):c.*1077C>T 41266677 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119463060 119463060 C T 306590 single nucleotide variant NM_012210.3(TRIM32):c.*1207A>G 886063386 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700911 116700911 A G 306590 single nucleotide variant NM_012210.3(TRIM32):c.*1207A>G 886063386 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119463190 119463190 A G 306595 single nucleotide variant NM_012210.3(TRIM32):c.*1490A>C 886063388 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116701194 116701194 A C 306595 single nucleotide variant NM_012210.3(TRIM32):c.*1490A>C 886063388 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119463473 119463473 A C 310775 single nucleotide variant NM_012210.3(TRIM32):c.-133G>C 12342207 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119449609 119449609 G C 310775 single nucleotide variant NM_012210.3(TRIM32):c.-133G>C 12342207 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116687330 116687330 G C 310776 single nucleotide variant NM_012210.3(TRIM32):c.1720G>T (p.Asp574Tyr) 886063379 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699462 116699462 G T 310776 single nucleotide variant NM_012210.3(TRIM32):c.1720G>T (p.Asp574Tyr) 886063379 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119461741 119461741 G T 310777 single nucleotide variant NM_012210.3(TRIM32):c.*112G>A 886063380 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699816 116699816 G A 310777 single nucleotide variant NM_012210.3(TRIM32):c.*112G>A 886063380 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462095 119462095 G A 310785 single nucleotide variant NM_012210.3(TRIM32):c.*129C>T 3019 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699833 116699833 C T 310785 single nucleotide variant NM_012210.3(TRIM32):c.*129C>T 3019 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462112 119462112 C T 310786 single nucleotide variant NM_012210.3(TRIM32):c.*283G>T 886063381 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699987 116699987 G T 310786 single nucleotide variant NM_012210.3(TRIM32):c.*283G>T 886063381 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462266 119462266 G T 310787 single nucleotide variant NM_012210.3(TRIM32):c.*589G>A 16933835 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700293 116700293 G A 310787 single nucleotide variant NM_012210.3(TRIM32):c.*589G>A 16933835 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462572 119462572 G A 310798 single nucleotide variant NM_012210.3(TRIM32):c.*866A>C 886063383 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700570 116700570 A C 310798 single nucleotide variant NM_012210.3(TRIM32):c.*866A>C 886063383 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462849 119462849 A C 310799 single nucleotide variant NM_012210.3(TRIM32):c.*935A>G 886063384 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700639 116700639 A G 310799 single nucleotide variant NM_012210.3(TRIM32):c.*935A>G 886063384 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462918 119462918 A G 316171 single nucleotide variant NM_012210.3(TRIM32):c.69C>T (p.Cys23=) 575633576 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116697811 116697811 C T 316171 single nucleotide variant NM_012210.3(TRIM32):c.69C>T (p.Cys23=) 575633576 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119460090 119460090 C T 316186 single nucleotide variant NM_012210.3(TRIM32):c.409C>T (p.Pro137Ser) 200997003 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116698151 116698151 C T 316186 single nucleotide variant NM_012210.3(TRIM32):c.409C>T (p.Pro137Ser) 200997003 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119460430 119460430 C T 316187 single nucleotide variant NM_012210.3(TRIM32):c.1386G>A (p.Val462=) 762905941 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699128 116699128 G A 316187 single nucleotide variant NM_012210.3(TRIM32):c.1386G>A (p.Val462=) 762905941 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119461407 119461407 G A 316188 single nucleotide variant NM_012210.3(TRIM32):c.*152T>G 868402796 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699856 116699856 T G 316188 single nucleotide variant NM_012210.3(TRIM32):c.*152T>G 868402796 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462135 119462135 T G 316191 single nucleotide variant NM_012210.3(TRIM32):c.*692C>G 116058338 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462675 119462675 C G 316191 single nucleotide variant NM_012210.3(TRIM32):c.*692C>G 116058338 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700396 116700396 C G 316195 single nucleotide variant NM_012210.3(TRIM32):c.*1206T>C 2281627 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700910 116700910 T C 316195 single nucleotide variant NM_012210.3(TRIM32):c.*1206T>C 2281627 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119463189 119463189 T C 316198 duplication NM_012210.3(TRIM32):c.*1411_*1414dupAATA 886063387 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116701115 116701118 AATA AATAAATA 316198 duplication NM_012210.3(TRIM32):c.*1411_*1414dupAATA 886063387 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119463394 119463397 AATA AATAAATA 316510 single nucleotide variant NM_012210.3(TRIM32):c.-124G>A 752864284 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116687339 116687339 G A 316510 single nucleotide variant NM_012210.3(TRIM32):c.-124G>A 752864284 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119449618 119449618 G A 316511 single nucleotide variant NM_012210.3(TRIM32):c.1432T>G (p.Leu478Val) 371002754 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699174 116699174 T G 316511 single nucleotide variant NM_012210.3(TRIM32):c.1432T>G (p.Leu478Val) 371002754 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119461453 119461453 T G 316514 single nucleotide variant NM_012210.3(TRIM32):c.*84A>C 571526516 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699788 116699788 A C 316514 single nucleotide variant NM_012210.3(TRIM32):c.*84A>C 571526516 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462067 119462067 A C 316521 single nucleotide variant NM_012210.3(TRIM32):c.*177C>T 149956877 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116699881 116699881 C T 316521 single nucleotide variant NM_012210.3(TRIM32):c.*177C>T 149956877 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462160 119462160 C T 316523 single nucleotide variant NM_012210.3(TRIM32):c.*479G>T 543534409 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700183 116700183 G T 316523 single nucleotide variant NM_012210.3(TRIM32):c.*479G>T 543534409 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462462 119462462 G T 316524 single nucleotide variant NM_012210.3(TRIM32):c.*737T>C 549857802 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700441 116700441 T C 316524 single nucleotide variant NM_012210.3(TRIM32):c.*737T>C 549857802 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119462720 119462720 T C 316525 single nucleotide variant NM_012210.3(TRIM32):c.*1060T>C 886063385 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 116700764 116700764 T C 316525 single nucleotide variant NM_012210.3(TRIM32):c.*1060T>C 886063385 MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:C0752166;MedGen:CN239352 9 119463043 119463043 T C

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 9 119462112 rs3019 C T rs3019 3.90E-04 Coronary heart disease HPOID:0001677 DOID:3393 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000119401.10 TRIM32 602290