Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20069 single nucleotide variant NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) 119485088 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81399037 81399037 G A 20069 single nucleotide variant NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) 119485088 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81365432 81365432 G A 20070 single nucleotide variant NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) 119485089 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81399028 81399028 C T 20070 single nucleotide variant NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) 119485089 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81365423 81365423 C T 20071 insertion GAN, 1-BP INS, 18A -1 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 na -1 -1 na na 20072 single nucleotide variant NM_022041.3(GAN):c.601C>T (p.Arg201Ter) 119485090 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81388328 81388328 C T 20072 single nucleotide variant NM_022041.3(GAN):c.601C>T (p.Arg201Ter) 119485090 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81354723 81354723 C T 20073 single nucleotide variant NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) 119485091 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81398610 81398610 T C 20073 single nucleotide variant NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) 119485091 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81365005 81365005 T C 20074 single nucleotide variant NM_022041.3(GAN):c.413G>A (p.Arg138His) 119485092 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81388140 81388140 G A 20074 single nucleotide variant NM_022041.3(GAN):c.413G>A (p.Arg138His) 119485092 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81354535 81354535 G A 20075 single nucleotide variant NM_022041.3(GAN):c.43C>A (p.Arg15Ser) 119485093 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348761 81348761 C A 20075 single nucleotide variant NM_022041.3(GAN):c.43C>A (p.Arg15Ser) 119485093 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315156 81315156 C A 20076 single nucleotide variant NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) 119485094 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81399010 81399010 C T 20076 single nucleotide variant NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) 119485094 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81365405 81365405 C T 20077 single nucleotide variant NM_022041.3(GAN):c.505G>A (p.Glu169Lys) 119485095 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81388232 81388232 G A 20077 single nucleotide variant NM_022041.3(GAN):c.505G>A (p.Glu169Lys) 119485095 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81354627 81354627 G A 134577 single nucleotide variant NM_022041.3(GAN):c.1293C>T (p.Tyr431=) 2608555 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN169374 16 81365030 81365030 C T 134577 single nucleotide variant NM_022041.3(GAN):c.1293C>T (p.Tyr431=) 2608555 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN169374 16 81398635 81398635 C T 167388 single nucleotide variant NM_022041.3(GAN):c.730A>G (p.Ile244Val) 200749953 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81356881 81356881 A G 167388 single nucleotide variant NM_022041.3(GAN):c.730A>G (p.Ile244Val) 200749953 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81390486 81390486 A G 167392 single nucleotide variant NM_022041.3(GAN):c.23C>G (p.Ser8Cys) 587781251 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959 16 81315136 81315136 C G 167392 single nucleotide variant NM_022041.3(GAN):c.23C>G (p.Ser8Cys) 587781251 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959 16 81348741 81348741 C G 167397 single nucleotide variant NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) 587779384 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959 16 81362609 81362609 G A 167397 single nucleotide variant NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) 587779384 MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959 16 81396214 81396214 G A 231987 single nucleotide variant NM_022041.3(GAN):c.1630G>A (p.Val544Met) 200071978 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN169374 16 81377432 81377432 G A 231987 single nucleotide variant NM_022041.3(GAN):c.1630G>A (p.Val544Met) 200071978 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN169374 16 81411037 81411037 G A 245005 single nucleotide variant NM_022041.3(GAN):c.413G>T (p.Arg138Leu) 119485092 MedGen:CN221809 16 81388140 81388140 G T 245005 single nucleotide variant NM_022041.3(GAN):c.413G>T (p.Arg138Leu) 119485092 MedGen:CN221809 16 81354535 81354535 G T 245006 single nucleotide variant NM_022041.3(GAN):c.565G>T (p.Val189Phe) 766484755 MedGen:CN169374 16 81388292 81388292 G T 245006 single nucleotide variant NM_022041.3(GAN):c.565G>T (p.Val189Phe) 766484755 MedGen:CN169374 16 81354687 81354687 G T 245007 single nucleotide variant NM_022041.3(GAN):c.633+2T>C 879254001 MedGen:CN221809 16 81388362 81388362 T C 245007 single nucleotide variant NM_022041.3(GAN):c.633+2T>C 879254001 MedGen:CN221809 16 81354757 81354757 T C 245008 single nucleotide variant NM_022041.3(GAN):c.851+1G>A 747291494 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN221809 16 81390608 81390608 G A 245008 single nucleotide variant NM_022041.3(GAN):c.851+1G>A 747291494 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN221809 16 81357003 81357003 G A 245009 single nucleotide variant NM_022041.3(GAN):c.944C>T (p.Pro315Leu) 144486241 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN221809 16 81391507 81391507 C T 245009 single nucleotide variant NM_022041.3(GAN):c.944C>T (p.Pro315Leu) 144486241 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN221809 16 81357902 81357902 C T 245010 single nucleotide variant NM_022041.3(GAN):c.1241G>A (p.Gly414Asp) 761827117 MedGen:CN169374 16 81398583 81398583 G A 245010 single nucleotide variant NM_022041.3(GAN):c.1241G>A (p.Gly414Asp) 761827117 MedGen:CN169374 16 81364978 81364978 G A 245011 single nucleotide variant NM_022041.3(GAN):c.1259A>C (p.Lys420Thr) 879254174 MedGen:CN169374 16 81398601 81398601 A C 245011 single nucleotide variant NM_022041.3(GAN):c.1259A>C (p.Lys420Thr) 879254174 MedGen:CN169374 16 81364996 81364996 A C 245012 single nucleotide variant NM_022041.3(GAN):c.1628A>G (p.Tyr543Cys) 879253958 MedGen:CN169374 16 81411035 81411035 A G 245012 single nucleotide variant NM_022041.3(GAN):c.1628A>G (p.Tyr543Cys) 879253958 MedGen:CN169374 16 81377430 81377430 A G 255892 single nucleotide variant NM_022041.3(GAN):c.156C>T (p.Ser52=) 377611091 MedGen:CN169374 16 81348874 81348874 C T 255892 single nucleotide variant NM_022041.3(GAN):c.156C>T (p.Ser52=) 377611091 MedGen:CN169374 16 81315269 81315269 C T 255893 single nucleotide variant NM_022041.3(GAN):c.167+12G>C 886038666 MedGen:CN169374 16 81315292 81315292 G C 255893 single nucleotide variant NM_022041.3(GAN):c.167+12G>C 886038666 MedGen:CN169374 16 81348897 81348897 G C 255894 single nucleotide variant NM_022041.3(GAN):c.168-48C>G 77078389 MedGen:CN169374 16 81385140 81385140 C G 255894 single nucleotide variant NM_022041.3(GAN):c.168-48C>G 77078389 MedGen:CN169374 16 81351535 81351535 C G 255895 single nucleotide variant NM_022041.3(GAN):c.283-14T>C 369700456 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN169374 16 81387996 81387996 T C 255895 single nucleotide variant NM_022041.3(GAN):c.283-14T>C 369700456 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386;MedGen:CN169374 16 81354391 81354391 T C 255896 single nucleotide variant NM_022041.3(GAN):c.1086+9C>G 762904814 MedGen:CN169374 16 81362620 81362620 C G 255896 single nucleotide variant NM_022041.3(GAN):c.1086+9C>G 762904814 MedGen:CN169374 16 81396225 81396225 C G 255897 single nucleotide variant NM_022041.3(GAN):c.1239C>T (p.Ile413=) 61740238 MedGen:CN169374 16 81364976 81364976 C T 255897 single nucleotide variant NM_022041.3(GAN):c.1239C>T (p.Ile413=) 61740238 MedGen:CN169374 16 81398581 81398581 C T 255898 single nucleotide variant NM_022041.3(GAN):c.1287C>G (p.Gly429=) 563049431 MedGen:CN169374 16 81365024 81365024 C G 255898 single nucleotide variant NM_022041.3(GAN):c.1287C>G (p.Gly429=) 563049431 MedGen:CN169374 16 81398629 81398629 C G 260130 single nucleotide variant NM_022041.3(GAN):c.1445C>T (p.Ala482Val) 146576740 MedGen:CN169374 16 81399026 81399026 C T 260130 single nucleotide variant NM_022041.3(GAN):c.1445C>T (p.Ala482Val) 146576740 MedGen:CN169374 16 81365421 81365421 C T 273694 single nucleotide variant NM_022041.3(GAN):c.1162C>T (p.Leu388=) 73589395 MedGen:CN169374 16 81397474 81397474 C T 273694 single nucleotide variant NM_022041.3(GAN):c.1162C>T (p.Leu388=) 73589395 MedGen:CN169374 16 81363869 81363869 C T 326427 single nucleotide variant NM_022041.3(GAN):c.-127C>T 886052329 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348592 81348592 C T 326427 single nucleotide variant NM_022041.3(GAN):c.-127C>T 886052329 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81314987 81314987 C T 326428 single nucleotide variant NM_022041.3(GAN):c.-111G>A 12929567 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315003 81315003 G A 326428 single nucleotide variant NM_022041.3(GAN):c.-111G>A 12929567 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348608 81348608 G A 326432 single nucleotide variant NM_022041.3(GAN):c.-75G>C 117642837 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315039 81315039 G C 326432 single nucleotide variant NM_022041.3(GAN):c.-75G>C 117642837 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348644 81348644 G C 326439 single nucleotide variant NM_022041.3(GAN):c.75G>A (p.Glu25=) 754548795 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315188 81315188 G A 326439 single nucleotide variant NM_022041.3(GAN):c.75G>A (p.Glu25=) 754548795 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348793 81348793 G A 326440 single nucleotide variant NM_022041.3(GAN):c.801A>G (p.Lys267=) 746799355 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81356952 81356952 A G 326440 single nucleotide variant NM_022041.3(GAN):c.801A>G (p.Lys267=) 746799355 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81390557 81390557 A G 326444 single nucleotide variant NM_022041.3(GAN):c.974-11G>C 753746307 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81362488 81362488 G C 326444 single nucleotide variant NM_022041.3(GAN):c.974-11G>C 753746307 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81396093 81396093 G C 326447 single nucleotide variant NM_022041.3(GAN):c.1699C>A (p.Arg567Ser) 886052335 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377501 81377501 C A 326447 single nucleotide variant NM_022041.3(GAN):c.1699C>A (p.Arg567Ser) 886052335 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411106 81411106 C A 326448 single nucleotide variant NM_022041.3(GAN):c.*360G>T 886052339 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411561 81411561 G T 326448 single nucleotide variant NM_022041.3(GAN):c.*360G>T 886052339 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377956 81377956 G T 326450 single nucleotide variant NM_022041.3(GAN):c.*1268C>T 182391687 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412469 81412469 C T 326450 single nucleotide variant NM_022041.3(GAN):c.*1268C>T 182391687 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378864 81378864 C T 326451 deletion NM_022041.3(GAN):c.*1659delT 886052345 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379255 81379255 T - 326451 deletion NM_022041.3(GAN):c.*1659delT 886052345 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412860 81412860 T - 326453 single nucleotide variant NM_022041.3(GAN):c.*1747A>G 886052346 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379343 81379343 A G 326453 single nucleotide variant NM_022041.3(GAN):c.*1747A>G 886052346 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412948 81412948 A G 326454 single nucleotide variant NM_022041.3(GAN):c.*1817G>C 73602873 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379413 81379413 G C 326454 single nucleotide variant NM_022041.3(GAN):c.*1817G>C 73602873 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413018 81413018 G C 326456 single nucleotide variant NM_022041.3(GAN):c.*1943T>C 751490334 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379539 81379539 T C 326456 single nucleotide variant NM_022041.3(GAN):c.*1943T>C 751490334 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413144 81413144 T C 326458 single nucleotide variant NM_022041.3(GAN):c.*2027T>A 886052348 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379623 81379623 T A 326458 single nucleotide variant NM_022041.3(GAN):c.*2027T>A 886052348 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413228 81413228 T A 326460 single nucleotide variant NM_022041.3(GAN):c.*2322T>G 11862952 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379918 81379918 T G 326460 single nucleotide variant NM_022041.3(GAN):c.*2322T>G 11862952 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413523 81413523 T G 336170 single nucleotide variant NM_022041.3(GAN):c.56C>A (p.Ala19Glu) 886052332 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348774 81348774 C A 336169 single nucleotide variant NM_022041.3(GAN):c.-74G>C 886052331 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315040 81315040 G C 336169 single nucleotide variant NM_022041.3(GAN):c.-74G>C 886052331 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348645 81348645 G C 336170 single nucleotide variant NM_022041.3(GAN):c.56C>A (p.Ala19Glu) 886052332 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315169 81315169 C A 336171 single nucleotide variant NM_022041.3(GAN):c.132G>A (p.Gln44=) 774609110 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315245 81315245 G A 336171 single nucleotide variant NM_022041.3(GAN):c.132G>A (p.Gln44=) 774609110 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348850 81348850 G A 336176 single nucleotide variant NM_022041.3(GAN):c.1183G>C (p.Asp395His) 142456623 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81363890 81363890 G C 336176 single nucleotide variant NM_022041.3(GAN):c.1183G>C (p.Asp395His) 142456623 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81397495 81397495 G C 336177 single nucleotide variant NM_022041.3(GAN):c.*81T>C 78835723 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377677 81377677 T C 336177 single nucleotide variant NM_022041.3(GAN):c.*81T>C 78835723 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411282 81411282 T C 336179 single nucleotide variant NM_022041.3(GAN):c.*294A>G 16955210 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411495 81411495 A G 336179 single nucleotide variant NM_022041.3(GAN):c.*294A>G 16955210 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377890 81377890 A G 336183 single nucleotide variant NM_022041.3(GAN):c.*381G>A 886052340 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377977 81377977 G A 336183 single nucleotide variant NM_022041.3(GAN):c.*381G>A 886052340 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411582 81411582 G A 336184 single nucleotide variant NM_022041.3(GAN):c.*472C>G 1816122 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378068 81378068 C G 336184 single nucleotide variant NM_022041.3(GAN):c.*472C>G 1816122 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411673 81411673 C G 336186 single nucleotide variant NM_022041.3(GAN):c.*544C>G 141552591 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378140 81378140 C G 336186 single nucleotide variant NM_022041.3(GAN):c.*544C>G 141552591 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411745 81411745 C G 336187 single nucleotide variant NM_022041.3(GAN):c.*964C>G 535218815 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378560 81378560 C G 336187 single nucleotide variant NM_022041.3(GAN):c.*964C>G 535218815 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412165 81412165 C G 336191 single nucleotide variant NM_022041.3(GAN):c.*967G>A 12920236 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378563 81378563 G A 336191 single nucleotide variant NM_022041.3(GAN):c.*967G>A 12920236 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412168 81412168 G A 336194 single nucleotide variant NM_022041.3(GAN):c.*1002T>A 552489170 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378598 81378598 T A 336194 single nucleotide variant NM_022041.3(GAN):c.*1002T>A 552489170 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412203 81412203 T A 336197 single nucleotide variant NM_022041.3(GAN):c.*1068T>G 57170812 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378664 81378664 T G 336197 single nucleotide variant NM_022041.3(GAN):c.*1068T>G 57170812 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412269 81412269 T G 336198 single nucleotide variant NM_022041.3(GAN):c.*1250T>G 61096092 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378846 81378846 T G 336198 single nucleotide variant NM_022041.3(GAN):c.*1250T>G 61096092 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412451 81412451 T G 336199 single nucleotide variant NM_022041.3(GAN):c.*1273G>C 75176423 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378869 81378869 G C 336199 single nucleotide variant NM_022041.3(GAN):c.*1273G>C 75176423 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412474 81412474 G C 336208 deletion NM_022041.3(GAN):c.*1455delT 886052343 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379051 81379051 T - 336208 deletion NM_022041.3(GAN):c.*1455delT 886052343 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412656 81412656 T - 336209 duplication NM_022041.3(GAN):c.*1455dupT 58542772 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379051 81379051 T TT 336209 duplication NM_022041.3(GAN):c.*1455dupT 58542772 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412656 81412656 T TT 336211 single nucleotide variant NM_022041.3(GAN):c.*1585T>C 886052344 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379181 81379181 T C 336211 single nucleotide variant NM_022041.3(GAN):c.*1585T>C 886052344 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412786 81412786 T C 336221 single nucleotide variant NM_022041.3(GAN):c.*1658T>G 16955221 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379254 81379254 T G 336221 single nucleotide variant NM_022041.3(GAN):c.*1658T>G 16955221 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412859 81412859 T G 336222 single nucleotide variant NM_022041.3(GAN):c.*1839G>A 375907932 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379435 81379435 G A 336222 single nucleotide variant NM_022041.3(GAN):c.*1839G>A 375907932 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413040 81413040 G A 336224 single nucleotide variant NM_022041.3(GAN):c.*2188T>C 2290949 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413389 81413389 T C 336224 single nucleotide variant NM_022041.3(GAN):c.*2188T>C 2290949 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379784 81379784 T C 336225 deletion NM_022041.3(GAN):c.*2332delT 886052351 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413533 81413533 T - 336225 deletion NM_022041.3(GAN):c.*2332delT 886052351 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379928 81379928 T - 336229 duplication NM_022041.3(GAN):c.*2332dupT 886052350 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413533 81413533 T TT 336229 duplication NM_022041.3(GAN):c.*2332dupT 886052350 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379928 81379928 T TT 342431 single nucleotide variant NM_022041.3(GAN):c.-70C>T 558816909 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315044 81315044 C T 342431 single nucleotide variant NM_022041.3(GAN):c.-70C>T 558816909 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348649 81348649 C T 342433 single nucleotide variant NM_022041.3(GAN):c.1665C>G (p.His555Gln) 886052334 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377467 81377467 C G 342433 single nucleotide variant NM_022041.3(GAN):c.1665C>G (p.His555Gln) 886052334 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411072 81411072 C G 342435 single nucleotide variant NM_022041.3(GAN):c.1777C>T (p.Arg593Cys) 886052336 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377579 81377579 C T 342435 single nucleotide variant NM_022041.3(GAN):c.1777C>T (p.Arg593Cys) 886052336 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411184 81411184 C T 342443 single nucleotide variant NM_022041.3(GAN):c.*45T>C 886052337 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377641 81377641 T C 342443 single nucleotide variant NM_022041.3(GAN):c.*45T>C 886052337 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411246 81411246 T C 342446 single nucleotide variant NM_022041.3(GAN):c.*372G>A 79192026 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411573 81411573 G A 342446 single nucleotide variant NM_022041.3(GAN):c.*372G>A 79192026 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377968 81377968 G A 342449 single nucleotide variant NM_022041.3(GAN):c.*551C>T 886052341 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378147 81378147 C T 342449 single nucleotide variant NM_022041.3(GAN):c.*551C>T 886052341 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411752 81411752 C T 342450 single nucleotide variant NM_022041.3(GAN):c.*592T>A 1345895 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378188 81378188 T A 342450 single nucleotide variant NM_022041.3(GAN):c.*592T>A 1345895 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411793 81411793 T A 342451 single nucleotide variant NM_022041.3(GAN):c.*764G>A 1934 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378360 81378360 G A 342451 single nucleotide variant NM_022041.3(GAN):c.*764G>A 1934 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411965 81411965 G A 342454 single nucleotide variant NM_022041.3(GAN):c.*816T>C 188599282 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378412 81378412 T C 342454 single nucleotide variant NM_022041.3(GAN):c.*816T>C 188599282 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412017 81412017 T C 342456 single nucleotide variant NM_022041.3(GAN):c.*1336G>A 150666164 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378932 81378932 G A 342456 single nucleotide variant NM_022041.3(GAN):c.*1336G>A 150666164 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412537 81412537 G A 342457 single nucleotide variant NM_022041.3(GAN):c.*1368T>C 568868279 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378964 81378964 T C 342457 single nucleotide variant NM_022041.3(GAN):c.*1368T>C 568868279 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412569 81412569 T C 342458 single nucleotide variant NM_022041.3(GAN):c.*1388A>G 41484544 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378984 81378984 A G 342458 single nucleotide variant NM_022041.3(GAN):c.*1388A>G 41484544 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412589 81412589 A G 342459 single nucleotide variant NM_022041.3(GAN):c.*1908A>C 11861082 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379504 81379504 A C 342459 single nucleotide variant NM_022041.3(GAN):c.*1908A>C 11861082 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413109 81413109 A C 342460 single nucleotide variant NM_022041.3(GAN):c.*2019A>G 886052347 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379615 81379615 A G 342460 single nucleotide variant NM_022041.3(GAN):c.*2019A>G 886052347 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413220 81413220 A G 342462 single nucleotide variant NM_022041.3(GAN):c.*2457T>C 886052352 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413658 81413658 T C 342462 single nucleotide variant NM_022041.3(GAN):c.*2457T>C 886052352 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81380053 81380053 T C 342463 single nucleotide variant NM_022041.3(GAN):c.*2485A>G 886052353 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413686 81413686 A G 342463 single nucleotide variant NM_022041.3(GAN):c.*2485A>G 886052353 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81380081 81380081 A G 342465 single nucleotide variant NM_022041.3(GAN):c.*2584A>G 117621048 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81380180 81380180 A G 342465 single nucleotide variant NM_022041.3(GAN):c.*2584A>G 117621048 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413785 81413785 A G 344079 single nucleotide variant NM_022041.3(GAN):c.-126T>C 886052330 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81314988 81314988 T C 344079 single nucleotide variant NM_022041.3(GAN):c.-126T>C 886052330 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348593 81348593 T C 344081 single nucleotide variant NM_022041.3(GAN):c.46C>T (p.Leu16=) 77470936 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81315159 81315159 C T 344081 single nucleotide variant NM_022041.3(GAN):c.46C>T (p.Leu16=) 77470936 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81348764 81348764 C T 344083 single nucleotide variant NM_022041.3(GAN):c.444C>T (p.His148=) 764605890 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81354566 81354566 C T 344083 single nucleotide variant NM_022041.3(GAN):c.444C>T (p.His148=) 764605890 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81388171 81388171 C T 344084 single nucleotide variant NM_022041.3(GAN):c.1518C>T (p.Asn506=) 886052333 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377234 81377234 C T 344084 single nucleotide variant NM_022041.3(GAN):c.1518C>T (p.Asn506=) 886052333 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81410839 81410839 C T 344087 single nucleotide variant NM_022041.3(GAN):c.1612+12A>G 150344737 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377340 81377340 A G 344087 single nucleotide variant NM_022041.3(GAN):c.1612+12A>G 150344737 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81410945 81410945 A G 344088 single nucleotide variant NM_022041.3(GAN):c.*32C>A 200964845 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377628 81377628 C A 344088 single nucleotide variant NM_022041.3(GAN):c.*32C>A 200964845 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411233 81411233 C A 344089 single nucleotide variant NM_022041.3(GAN):c.*159C>T 76000455 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377755 81377755 C T 344089 single nucleotide variant NM_022041.3(GAN):c.*159C>T 76000455 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411360 81411360 C T 344090 single nucleotide variant NM_022041.3(GAN):c.*214C>T 886052338 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411415 81411415 C T 344090 single nucleotide variant NM_022041.3(GAN):c.*214C>T 886052338 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377810 81377810 C T 344091 single nucleotide variant NM_022041.3(GAN):c.*235T>C 16955203 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411436 81411436 T C 344091 single nucleotide variant NM_022041.3(GAN):c.*235T>C 16955203 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377831 81377831 T C 344092 single nucleotide variant NM_022041.3(GAN):c.*247G>A 2216769 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411448 81411448 G A 344092 single nucleotide variant NM_022041.3(GAN):c.*247G>A 2216769 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377843 81377843 G A 344093 single nucleotide variant NM_022041.3(GAN):c.*291A>G 541752526 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411492 81411492 A G 344093 single nucleotide variant NM_022041.3(GAN):c.*291A>G 541752526 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81377887 81377887 A G 344099 single nucleotide variant NM_022041.3(GAN):c.*495G>A 558701236 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378091 81378091 G A 344099 single nucleotide variant NM_022041.3(GAN):c.*495G>A 558701236 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81411696 81411696 G A 344100 single nucleotide variant NM_022041.3(GAN):c.*810C>A 886052342 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378406 81378406 C A 344100 single nucleotide variant NM_022041.3(GAN):c.*810C>A 886052342 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412011 81412011 C A 344102 single nucleotide variant NM_022041.3(GAN):c.*1175C>A 142989603 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412376 81412376 C A 344102 single nucleotide variant NM_022041.3(GAN):c.*1175C>A 142989603 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81378771 81378771 C A 344103 duplication NM_022041.3(GAN):c.*1454_*1455dupTT 58542772 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379050 81379051 TT TTTT 344103 duplication NM_022041.3(GAN):c.*1454_*1455dupTT 58542772 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81412655 81412656 TT TTTT 344116 single nucleotide variant NM_022041.3(GAN):c.*1883C>G 76019247 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379479 81379479 C G 344116 single nucleotide variant NM_022041.3(GAN):c.*1883C>G 76019247 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413084 81413084 C G 344119 single nucleotide variant NM_022041.3(GAN):c.*2280G>C 886052349 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379876 81379876 G C 344119 single nucleotide variant NM_022041.3(GAN):c.*2280G>C 886052349 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413481 81413481 G C 344122 insertion NM_022041.3(GAN):c.*2321_*2322insG 202192140 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379917 81379918 - G 344122 insertion NM_022041.3(GAN):c.*2321_*2322insG 202192140 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413522 81413523 - G 344124 single nucleotide variant NM_022041.3(GAN):c.*2350T>A 369040399 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413551 81413551 T A 344124 single nucleotide variant NM_022041.3(GAN):c.*2350T>A 369040399 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81379946 81379946 T A 344126 single nucleotide variant NM_022041.3(GAN):c.*2492T>A 886052354 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413693 81413693 T A 344126 single nucleotide variant NM_022041.3(GAN):c.*2492T>A 886052354 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81380088 81380088 T A 344130 single nucleotide variant NM_022041.3(GAN):c.*2498T>G 2290948 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81413699 81413699 T G 344130 single nucleotide variant NM_022041.3(GAN):c.*2498T>G 2290948 MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:C1850386 16 81380094 81380094 T G 361521 single nucleotide variant NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) 79901179 MedGen:CN221809 16 81411091 81411091 C G 361521 single nucleotide variant NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) 79901179 MedGen:CN221809 16 81377486 81377486 C G

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 16 81359825 rs2216768 G A rs2216768 1.08E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 C intron GWASdb_trait 16 81374504 rs1820260 G C rs1820260 1.68E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 16 81396574 rs12448813 G C rs12448813 2.67E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 16 81400177 rs2161728 A G rs2161728 5.23E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000261609.4 GAN 605379