| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 16695 | insertion | TOPORS, 1-BP INS, 2474A | -1 | MedGen:C1835923,OMIM:609923 | na | -1 | -1 | na | na |
| 16696 | deletion | TOPORS, 2-BP DEL, 2552GA | -1 | MedGen:C1835923,OMIM:609923 | na | -1 | -1 | na | na |
| 101212 | single nucleotide variant | NM_005802.4(TOPORS):c.2319T>C (p.Ser773=) | 10971019 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542204 | 32542204 | A | G |
| 101212 | single nucleotide variant | NM_005802.4(TOPORS):c.2319T>C (p.Ser773=) | 10971019 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542206 | 32542206 | A | G |
| 101213 | single nucleotide variant | NM_005802.4(TOPORS):c.2547A>G (p.Ser849=) | 150650712 | MedGen:CN169374 | 9 | 32541976 | 32541976 | T | C |
| 101213 | single nucleotide variant | NM_005802.4(TOPORS):c.2547A>G (p.Ser849=) | 150650712 | MedGen:CN169374 | 9 | 32541978 | 32541978 | T | C |
| 101214 | single nucleotide variant | NM_005802.4(TOPORS):c.2991T>C (p.Asp997=) | 12348918 | MedGen:CN239354;MedGen:CN169374 | 9 | 32541532 | 32541532 | A | G |
| 101214 | single nucleotide variant | NM_005802.4(TOPORS):c.2991T>C (p.Asp997=) | 12348918 | MedGen:CN239354;MedGen:CN169374 | 9 | 32541534 | 32541534 | A | G |
| 152848 | deletion | NM_005802.4(TOPORS):c.2554_2557delGAGA (p.Glu852Glnfs) | 527236116 | MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 | 9 | 32541966 | 32541969 | TCTC | - |
| 152848 | deletion | NM_005802.4(TOPORS):c.2554_2557delGAGA (p.Glu852Glnfs) | 527236116 | MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 | 9 | 32541968 | 32541971 | TCTC | - |
| 171467 | single nucleotide variant | NM_001195622.1(TOPORS):c.2613A>C (p.Gln871His) | 193920910 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 9 | 32541717 | 32541717 | T | G |
| 171467 | single nucleotide variant | NM_001195622.1(TOPORS):c.2613A>C (p.Gln871His) | 193920910 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 9 | 32541715 | 32541715 | T | G |
| 176997 | single nucleotide variant | NM_005802.4(TOPORS):c.2525C>A (p.Thr842Asn) | 139859703 | MedGen:CN169374 | 9 | 32541998 | 32541998 | G | T |
| 176997 | single nucleotide variant | NM_005802.4(TOPORS):c.2525C>A (p.Thr842Asn) | 139859703 | MedGen:CN169374 | 9 | 32542000 | 32542000 | G | T |
| 177260 | single nucleotide variant | NM_005802.4(TOPORS):c.2245A>G (p.Asn749Asp) | 17857515 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542278 | 32542278 | T | C |
| 177260 | single nucleotide variant | NM_005802.4(TOPORS):c.2245A>G (p.Asn749Asp) | 17857515 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542280 | 32542280 | T | C |
| 178102 | single nucleotide variant | NM_005802.4(TOPORS):c.1953C>T (p.Ser651=) | 727504178 | MedGen:CN169374 | 9 | 32542570 | 32542570 | G | A |
| 178102 | single nucleotide variant | NM_005802.4(TOPORS):c.1953C>T (p.Ser651=) | 727504178 | MedGen:CN169374 | 9 | 32542572 | 32542572 | G | A |
| 178103 | single nucleotide variant | NM_005802.4(TOPORS):c.1560A>G (p.Gln520=) | 61756347 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542963 | 32542963 | T | C |
| 178103 | single nucleotide variant | NM_005802.4(TOPORS):c.1560A>G (p.Gln520=) | 61756347 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542965 | 32542965 | T | C |
| 192411 | single nucleotide variant | NM_005802.4(TOPORS):c.74C>G (p.Ser25Trp) | 61758066 | MedGen:CN239354;MedGen:CN169374 | 9 | 32550896 | 32550896 | G | C |
| 192411 | single nucleotide variant | NM_005802.4(TOPORS):c.74C>G (p.Ser25Trp) | 61758066 | MedGen:CN239354;MedGen:CN169374 | 9 | 32550898 | 32550898 | G | C |
| 192412 | single nucleotide variant | NM_005802.4(TOPORS):c.58C>T (p.Pro20Ser) | 112527210 | MedGen:CN239354;MedGen:CN169374 | 9 | 32550912 | 32550912 | G | A |
| 192412 | single nucleotide variant | NM_005802.4(TOPORS):c.58C>T (p.Pro20Ser) | 112527210 | MedGen:CN239354;MedGen:CN169374 | 9 | 32550914 | 32550914 | G | A |
| 192413 | single nucleotide variant | NM_005802.4(TOPORS):c.67C>T (p.Pro23Ser) | 780800052 | MedGen:CN221809 | 9 | 32550903 | 32550903 | G | A |
| 192413 | single nucleotide variant | NM_005802.4(TOPORS):c.67C>T (p.Pro23Ser) | 780800052 | MedGen:CN221809 | 9 | 32550905 | 32550905 | G | A |
| 192414 | deletion | NM_005802.4(TOPORS):c.198+6_198+9delTGAG | 794727280 | MedGen:CN169374 | 9 | 32550763 | 32550766 | CTCA | - |
| 192414 | deletion | NM_005802.4(TOPORS):c.198+6_198+9delTGAG | 794727280 | MedGen:CN169374 | 9 | 32550765 | 32550768 | CTCA | - |
| 193582 | single nucleotide variant | NM_005802.4(TOPORS):c.671A>C (p.Asp224Ala) | 147071021 | MedGen:CN169374 | 9 | 32543852 | 32543852 | T | G |
| 193579 | single nucleotide variant | NM_005802.4(TOPORS):c.814A>G (p.Ile272Val) | 115436019 | MedGen:CN169374 | 9 | 32543709 | 32543709 | T | C |
| 193579 | single nucleotide variant | NM_005802.4(TOPORS):c.814A>G (p.Ile272Val) | 115436019 | MedGen:CN169374 | 9 | 32543711 | 32543711 | T | C |
| 193580 | single nucleotide variant | NM_005802.4(TOPORS):c.2161A>G (p.Arg721Gly) | 794727506 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542362 | 32542362 | T | C |
| 193580 | single nucleotide variant | NM_005802.4(TOPORS):c.2161A>G (p.Arg721Gly) | 794727506 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542364 | 32542364 | T | C |
| 193581 | single nucleotide variant | NM_005802.4(TOPORS):c.2044T>C (p.Ser682Pro) | 74759910 | MedGen:CN169374 | 9 | 32542479 | 32542479 | A | G |
| 193581 | single nucleotide variant | NM_005802.4(TOPORS):c.2044T>C (p.Ser682Pro) | 74759910 | MedGen:CN169374 | 9 | 32542481 | 32542481 | A | G |
| 193582 | single nucleotide variant | NM_005802.4(TOPORS):c.671A>C (p.Asp224Ala) | 147071021 | MedGen:CN169374 | 9 | 32543854 | 32543854 | T | G |
| 193583 | single nucleotide variant | NM_005802.4(TOPORS):c.2862A>C (p.Thr954=) | 143560726 | MedGen:CN169374 | 9 | 32541661 | 32541661 | T | G |
| 193583 | single nucleotide variant | NM_005802.4(TOPORS):c.2862A>C (p.Thr954=) | 143560726 | MedGen:CN169374 | 9 | 32541663 | 32541663 | T | G |
| 193584 | single nucleotide variant | NM_005802.4(TOPORS):c.2344A>G (p.Thr782Ala) | 746320974 | MedGen:CN169374 | 9 | 32542179 | 32542179 | T | C |
| 193584 | single nucleotide variant | NM_005802.4(TOPORS):c.2344A>G (p.Thr782Ala) | 746320974 | MedGen:CN169374 | 9 | 32542181 | 32542181 | T | C |
| 193585 | single nucleotide variant | NM_005802.4(TOPORS):c.2019T>A (p.Arg673=) | 760719392 | MedGen:CN169374 | 9 | 32542504 | 32542504 | A | T |
| 193585 | single nucleotide variant | NM_005802.4(TOPORS):c.2019T>A (p.Arg673=) | 760719392 | MedGen:CN169374 | 9 | 32542506 | 32542506 | A | T |
| 193586 | single nucleotide variant | NM_005802.4(TOPORS):c.2018G>T (p.Arg673Leu) | 147497536 | MedGen:CN169374 | 9 | 32542505 | 32542505 | C | A |
| 193586 | single nucleotide variant | NM_005802.4(TOPORS):c.2018G>T (p.Arg673Leu) | 147497536 | MedGen:CN169374 | 9 | 32542507 | 32542507 | C | A |
| 193587 | single nucleotide variant | NM_005802.4(TOPORS):c.2643C>G (p.His881Gln) | 41302222 | MedGen:CN239354;MedGen:CN169374 | 9 | 32541880 | 32541880 | G | C |
| 193587 | single nucleotide variant | NM_005802.4(TOPORS):c.2643C>G (p.His881Gln) | 41302222 | MedGen:CN239354;MedGen:CN169374 | 9 | 32541882 | 32541882 | G | C |
| 193588 | indel | NM_005802.4(TOPORS):c.2018_2019delGTinsTA (p.Arg673Leu) | 797044708 | MedGen:CN169374 | 9 | 32542504 | 32542505 | AC | TA |
| 193588 | indel | NM_005802.4(TOPORS):c.2018_2019delGTinsTA (p.Arg673Leu) | 797044708 | MedGen:CN169374 | 9 | 32542506 | 32542507 | AC | TA |
| 226528 | single nucleotide variant | NM_005802.4(TOPORS):c.2539C>T (p.Arg847Ter) | 869312183 | MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 | 9 | 32541984 | 32541984 | G | A |
| 226528 | single nucleotide variant | NM_005802.4(TOPORS):c.2539C>T (p.Arg847Ter) | 869312183 | MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 | 9 | 32541986 | 32541986 | G | A |
| 265795 | single nucleotide variant | NM_005802.4(TOPORS):c.3040A>G (p.Asn1014Asp) | 185044466 | MedGen:CN169374 | 9 | 32541483 | 32541483 | T | C |
| 265795 | single nucleotide variant | NM_005802.4(TOPORS):c.3040A>G (p.Asn1014Asp) | 185044466 | MedGen:CN169374 | 9 | 32541485 | 32541485 | T | C |
| 268646 | single nucleotide variant | NM_005802.4(TOPORS):c.2160C>T (p.Tyr720=) | 74328058 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542363 | 32542363 | G | A |
| 268646 | single nucleotide variant | NM_005802.4(TOPORS):c.2160C>T (p.Tyr720=) | 74328058 | MedGen:CN239354;MedGen:CN169374 | 9 | 32542365 | 32542365 | G | A |
| 270340 | single nucleotide variant | NM_005802.4(TOPORS):c.601A>C (p.Arg201=) | 886043308 | MedGen:CN169374 | 9 | 32543922 | 32543922 | T | G |
| 270340 | single nucleotide variant | NM_005802.4(TOPORS):c.601A>C (p.Arg201=) | 886043308 | MedGen:CN169374 | 9 | 32543924 | 32543924 | T | G |
| 274193 | single nucleotide variant | NM_005802.4(TOPORS):c.1795A>C (p.Ser599Arg) | 886044315 | MedGen:CN169374 | 9 | 32542728 | 32542728 | T | G |
| 274193 | single nucleotide variant | NM_005802.4(TOPORS):c.1795A>C (p.Ser599Arg) | 886044315 | MedGen:CN169374 | 9 | 32542730 | 32542730 | T | G |
| 308121 | deletion | NM_005802.4(TOPORS):c.*139delT | 371315173 | MedGen:CN239354 | 9 | 32541248 | 32541248 | A | - |
| 308121 | deletion | NM_005802.4(TOPORS):c.*139delT | 371315173 | MedGen:CN239354 | 9 | 32541246 | 32541246 | A | - |
| 308122 | duplication | NM_005802.4(TOPORS):c.*139dupT | 140010425 | MedGen:CN239354 | 9 | 32541248 | 32541248 | A | AA |
| 308122 | duplication | NM_005802.4(TOPORS):c.*139dupT | 140010425 | MedGen:CN239354 | 9 | 32541246 | 32541246 | A | AA |
| 308124 | single nucleotide variant | NM_005802.4(TOPORS):c.*9A>G | 201576667 | MedGen:CN239354 | 9 | 32541378 | 32541378 | T | C |
| 308124 | single nucleotide variant | NM_005802.4(TOPORS):c.*9A>G | 201576667 | MedGen:CN239354 | 9 | 32541376 | 32541376 | T | C |
| 308125 | single nucleotide variant | NM_005802.4(TOPORS):c.2967A>G (p.Ala989=) | 761500932 | MedGen:CN239354 | 9 | 32541558 | 32541558 | T | C |
| 308125 | single nucleotide variant | NM_005802.4(TOPORS):c.2967A>G (p.Ala989=) | 761500932 | MedGen:CN239354 | 9 | 32541556 | 32541556 | T | C |
| 308127 | single nucleotide variant | NM_005802.4(TOPORS):c.1722G>A (p.Leu574=) | 12236253 | MedGen:CN239354 | 9 | 32542803 | 32542803 | C | T |
| 308127 | single nucleotide variant | NM_005802.4(TOPORS):c.1722G>A (p.Leu574=) | 12236253 | MedGen:CN239354 | 9 | 32542801 | 32542801 | C | T |
| 308137 | single nucleotide variant | NM_005802.4(TOPORS):c.1238A>C (p.Gln413Pro) | 61758062 | MedGen:CN239354 | 9 | 32543287 | 32543287 | T | G |
| 308137 | single nucleotide variant | NM_005802.4(TOPORS):c.1238A>C (p.Gln413Pro) | 61758062 | MedGen:CN239354 | 9 | 32543285 | 32543285 | T | G |
| 308139 | single nucleotide variant | NM_005802.4(TOPORS):c.-191T>C | 886063856 | MedGen:CN239354 | 9 | 32552627 | 32552627 | A | G |
| 308139 | single nucleotide variant | NM_005802.4(TOPORS):c.-191T>C | 886063856 | MedGen:CN239354 | 9 | 32552625 | 32552625 | A | G |
| 312487 | single nucleotide variant | NM_005802.4(TOPORS):c.*341T>C | 563137078 | MedGen:CN239354 | 9 | 32541046 | 32541046 | A | G |
| 312487 | single nucleotide variant | NM_005802.4(TOPORS):c.*341T>C | 563137078 | MedGen:CN239354 | 9 | 32541044 | 32541044 | A | G |
| 312496 | single nucleotide variant | NM_005802.4(TOPORS):c.*100C>G | 886063852 | MedGen:CN239354 | 9 | 32541287 | 32541287 | G | C |
| 312496 | single nucleotide variant | NM_005802.4(TOPORS):c.*100C>G | 886063852 | MedGen:CN239354 | 9 | 32541285 | 32541285 | G | C |
| 312498 | single nucleotide variant | NM_005802.4(TOPORS):c.*47A>G | 778217226 | MedGen:CN239354 | 9 | 32541340 | 32541340 | T | C |
| 312498 | single nucleotide variant | NM_005802.4(TOPORS):c.*47A>G | 778217226 | MedGen:CN239354 | 9 | 32541338 | 32541338 | T | C |
| 312499 | single nucleotide variant | NM_005802.4(TOPORS):c.2567A>G (p.Lys856Arg) | 181426035 | MedGen:CN239354 | 9 | 32541958 | 32541958 | T | C |
| 312499 | single nucleotide variant | NM_005802.4(TOPORS):c.2567A>G (p.Lys856Arg) | 181426035 | MedGen:CN239354 | 9 | 32541956 | 32541956 | T | C |
| 312500 | single nucleotide variant | NM_005802.4(TOPORS):c.2435C>G (p.Pro812Arg) | 36034138 | MedGen:CN239354 | 9 | 32542090 | 32542090 | G | C |
| 312500 | single nucleotide variant | NM_005802.4(TOPORS):c.2435C>G (p.Pro812Arg) | 36034138 | MedGen:CN239354 | 9 | 32542088 | 32542088 | G | C |
| 312508 | single nucleotide variant | NM_005802.4(TOPORS):c.1788A>C (p.Arg596Ser) | 886063853 | MedGen:CN239354 | 9 | 32542737 | 32542737 | T | G |
| 312508 | single nucleotide variant | NM_005802.4(TOPORS):c.1788A>C (p.Arg596Ser) | 886063853 | MedGen:CN239354 | 9 | 32542735 | 32542735 | T | G |
| 312515 | single nucleotide variant | NM_005802.4(TOPORS):c.1426G>C (p.Asp476His) | 886063854 | MedGen:CN239354 | 9 | 32543099 | 32543099 | C | G |
| 312515 | single nucleotide variant | NM_005802.4(TOPORS):c.1426G>C (p.Asp476His) | 886063854 | MedGen:CN239354 | 9 | 32543097 | 32543097 | C | G |
| 312517 | single nucleotide variant | NM_005802.4(TOPORS):c.576G>T (p.Val192=) | 116721635 | MedGen:CN239354 | 9 | 32543949 | 32543949 | C | A |
| 312517 | single nucleotide variant | NM_005802.4(TOPORS):c.576G>T (p.Val192=) | 116721635 | MedGen:CN239354 | 9 | 32543947 | 32543947 | C | A |
| 312529 | single nucleotide variant | NM_005802.4(TOPORS):c.264A>G (p.Lys88=) | 886063855 | MedGen:CN239354 | 9 | 32544261 | 32544261 | T | C |
| 312529 | single nucleotide variant | NM_005802.4(TOPORS):c.264A>G (p.Lys88=) | 886063855 | MedGen:CN239354 | 9 | 32544259 | 32544259 | T | C |
| 312536 | single nucleotide variant | NM_005802.4(TOPORS):c.-64C>T | 776476617 | MedGen:CN239354 | 9 | 32552500 | 32552500 | G | A |
| 312536 | single nucleotide variant | NM_005802.4(TOPORS):c.-64C>T | 776476617 | MedGen:CN239354 | 9 | 32552498 | 32552498 | G | A |
| 318344 | deletion | NM_005802.4(TOPORS):c.*733_*737delCTTTA | 201977387 | MedGen:CN239354 | 9 | 32540648 | 32540652 | TAAAG | - |
| 318344 | deletion | NM_005802.4(TOPORS):c.*733_*737delCTTTA | 201977387 | MedGen:CN239354 | 9 | 32540650 | 32540654 | TAAAG | - |
| 318364 | single nucleotide variant | NM_005802.4(TOPORS):c.2467A>G (p.Ser823Gly) | 377384599 | MedGen:CN239354 | 9 | 32542058 | 32542058 | T | C |
| 318364 | single nucleotide variant | NM_005802.4(TOPORS):c.2467A>G (p.Ser823Gly) | 377384599 | MedGen:CN239354 | 9 | 32542056 | 32542056 | T | C |
| 318367 | single nucleotide variant | NM_005802.4(TOPORS):c.2347G>C (p.Gly783Arg) | 148620735 | MedGen:CN239354 | 9 | 32542178 | 32542178 | C | G |
| 318367 | single nucleotide variant | NM_005802.4(TOPORS):c.2347G>C (p.Gly783Arg) | 148620735 | MedGen:CN239354 | 9 | 32542176 | 32542176 | C | G |
| 318368 | single nucleotide variant | NM_005802.4(TOPORS):c.-28G>C | 15014 | MedGen:CN239354 | 9 | 32552464 | 32552464 | C | G |
| 318368 | single nucleotide variant | NM_005802.4(TOPORS):c.-28G>C | 15014 | MedGen:CN239354 | 9 | 32552462 | 32552462 | C | G |
| 318809 | duplication | NM_005802.4(TOPORS):c.*647dupT | 886063850 | MedGen:CN239354 | 9 | 32540738 | 32540738 | A | AA |
| 318809 | duplication | NM_005802.4(TOPORS):c.*647dupT | 886063850 | MedGen:CN239354 | 9 | 32540740 | 32540740 | A | AA |
| 318831 | single nucleotide variant | NM_005802.4(TOPORS):c.*506A>G | 886063851 | MedGen:CN239354 | 9 | 32540881 | 32540881 | T | C |
| 318831 | single nucleotide variant | NM_005802.4(TOPORS):c.*506A>G | 886063851 | MedGen:CN239354 | 9 | 32540879 | 32540879 | T | C |
| 318838 | deletion | NM_005802.4(TOPORS):c.*362delT | 532327230 | MedGen:CN239354 | 9 | 32541025 | 32541025 | A | - |
| 318838 | deletion | NM_005802.4(TOPORS):c.*362delT | 532327230 | MedGen:CN239354 | 9 | 32541023 | 32541023 | A | - |
| 318839 | single nucleotide variant | NM_005802.4(TOPORS):c.*117A>G | 752719297 | MedGen:CN239354 | 9 | 32541270 | 32541270 | T | C |
| 318839 | single nucleotide variant | NM_005802.4(TOPORS):c.*117A>G | 752719297 | MedGen:CN239354 | 9 | 32541268 | 32541268 | T | C |
| 318844 | single nucleotide variant | NM_005802.4(TOPORS):c.2988C>T (p.Leu996=) | 3814518 | MedGen:CN239354 | 9 | 32541537 | 32541537 | G | A |
| 318844 | single nucleotide variant | NM_005802.4(TOPORS):c.2988C>T (p.Leu996=) | 3814518 | MedGen:CN239354 | 9 | 32541535 | 32541535 | G | A |
| 318851 | single nucleotide variant | NM_005802.4(TOPORS):c.2797G>T (p.Asp933Tyr) | 761851969 | MedGen:CN239354 | 9 | 32541728 | 32541728 | C | A |
| 318851 | single nucleotide variant | NM_005802.4(TOPORS):c.2797G>T (p.Asp933Tyr) | 761851969 | MedGen:CN239354 | 9 | 32541726 | 32541726 | C | A |
| 318852 | single nucleotide variant | NM_005802.4(TOPORS):c.2314C>T (p.Leu772=) | 371017482 | MedGen:CN239354 | 9 | 32542211 | 32542211 | G | A |
| 318852 | single nucleotide variant | NM_005802.4(TOPORS):c.2314C>T (p.Leu772=) | 371017482 | MedGen:CN239354 | 9 | 32542209 | 32542209 | G | A |
| 318853 | single nucleotide variant | NM_005802.4(TOPORS):c.1793G>C (p.Arg598Thr) | 749210641 | MedGen:CN239354 | 9 | 32542732 | 32542732 | C | G |
| 318853 | single nucleotide variant | NM_005802.4(TOPORS):c.1793G>C (p.Arg598Thr) | 749210641 | MedGen:CN239354 | 9 | 32542730 | 32542730 | C | G |
| 318854 | single nucleotide variant | NM_005802.4(TOPORS):c.-172G>A | 187268836 | MedGen:CN239354 | 9 | 32552608 | 32552608 | C | T |
| 318854 | single nucleotide variant | NM_005802.4(TOPORS):c.-172G>A | 187268836 | MedGen:CN239354 | 9 | 32552606 | 32552606 | C | T |