Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 31260 single nucleotide variant NM_004960.3(FUS):c.1551C>G (p.His517Gln) 121909667 MedGen:C2750729 16 31202729 31202729 C G 31260 single nucleotide variant NM_004960.3(FUS):c.1551C>G (p.His517Gln) 121909667 MedGen:C2750729 16 31191408 31191408 C G 31261 single nucleotide variant NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) 121909668 MedGen:C1842675,OMIM:608030 16 31202739 31202739 C G 31261 single nucleotide variant NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) 121909668 MedGen:C1842675,OMIM:608030 16 31191418 31191418 C G 31262 single nucleotide variant NM_004960.3(FUS):c.1553G>A (p.Arg518Lys) 121909669 MedGen:C1842675,OMIM:608030 16 31202731 31202731 G A 31262 single nucleotide variant NM_004960.3(FUS):c.1553G>A (p.Arg518Lys) 121909669 MedGen:C1842675,OMIM:608030 16 31191410 31191410 G A 31263 single nucleotide variant NM_004960.3(FUS):c.1561C>T (p.Arg521Cys) 121909668 MedGen:C1842675,OMIM:608030 16 31202739 31202739 C T 31263 single nucleotide variant NM_004960.3(FUS):c.1561C>T (p.Arg521Cys) 121909668 MedGen:C1842675,OMIM:608030 16 31191418 31191418 C T 31264 single nucleotide variant NM_004960.3(FUS):c.1562G>A (p.Arg521His) 121909671 MedGen:C1842675,OMIM:608030 16 31202740 31202740 G A 31264 single nucleotide variant NM_004960.3(FUS):c.1562G>A (p.Arg521His) 121909671 MedGen:C1842675,OMIM:608030 16 31191419 31191419 G A 31265 single nucleotide variant NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) 267606831 MedGen:C1842675,OMIM:608030 16 31202410 31202410 G A 31265 single nucleotide variant NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) 267606831 MedGen:C1842675,OMIM:608030 16 31191089 31191089 G A 31266 single nucleotide variant NM_004960.3(FUS):c.646C>T (p.Arg216Cys) 267606832 MedGen:C1842675,OMIM:608030;MedGen:C3539195,OMIM:614782 16 31196382 31196382 C T 31266 single nucleotide variant NM_004960.3(FUS):c.646C>T (p.Arg216Cys) 267606832 MedGen:C1842675,OMIM:608030;MedGen:C3539195,OMIM:614782 16 31185061 31185061 C T 31267 single nucleotide variant NM_004960.3(FUS):c.1570A>T (p.Arg524Trp) 267606833 MedGen:C1842675,OMIM:608030 16 31202748 31202748 A T 31267 single nucleotide variant NM_004960.3(FUS):c.1570A>T (p.Arg524Trp) 267606833 MedGen:C1842675,OMIM:608030 16 31191427 31191427 A T 38662 single nucleotide variant NM_004960.3(FUS):c.1483C>T (p.Arg495Ter) 387906627 MedGen:C1842675,OMIM:608030 16 31202373 31202373 C T 38662 single nucleotide variant NM_004960.3(FUS):c.1483C>T (p.Arg495Ter) 387906627 MedGen:C1842675,OMIM:608030 16 31191052 31191052 C T 38663 single nucleotide variant NM_004960.3(FUS):c.616G>A (p.Gly206Ser) 387906628 MedGen:C1842675,OMIM:608030 16 31196352 31196352 G A 38663 single nucleotide variant NM_004960.3(FUS):c.616G>A (p.Gly206Ser) 387906628 MedGen:C1842675,OMIM:608030 16 31185031 31185031 G A 45745 single nucleotide variant NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) 186547381 MedGen:C3539195,OMIM:614782 16 31201719 31201719 C T 45745 single nucleotide variant NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) 186547381 MedGen:C3539195,OMIM:614782 16 31190398 31190398 C T 45746 single nucleotide variant NM_004960.3(FUS):c.868C>T (p.Gln290Ter) 387907274 MedGen:C3539195,OMIM:614782 16 31200479 31200479 C T 45746 single nucleotide variant NM_004960.3(FUS):c.868C>T (p.Gln290Ter) 387907274 MedGen:C3539195,OMIM:614782 16 31189158 31189158 C T 255698 single nucleotide variant NM_004960.3(FUS):c.147C>A (p.Gly49=) 741810 MedGen:CN239175;MedGen:CN169374 16 31193942 31193942 C A 255698 single nucleotide variant NM_004960.3(FUS):c.147C>A (p.Gly49=) 741810 MedGen:CN239175;MedGen:CN169374 16 31182621 31182621 C A 255699 single nucleotide variant NM_004960.3(FUS):c.153C>T (p.Gly51=) 61733962 MedGen:CN239175;MedGen:CN169374 16 31182627 31182627 C T 255699 single nucleotide variant NM_004960.3(FUS):c.153C>T (p.Gly51=) 61733962 MedGen:CN239175;MedGen:CN169374 16 31193948 31193948 C T 255700 single nucleotide variant NM_004960.3(FUS):c.190+9T>C 73530283 MedGen:CN239175;MedGen:CN169374 16 31193994 31193994 T C 255700 single nucleotide variant NM_004960.3(FUS):c.190+9T>C 73530283 MedGen:CN239175;MedGen:CN169374 16 31182673 31182673 T C 255701 single nucleotide variant NM_004960.3(FUS):c.191-41T>C 201458952 MedGen:CN169374 16 31195138 31195138 T C 255701 single nucleotide variant NM_004960.3(FUS):c.191-41T>C 201458952 MedGen:CN169374 16 31183817 31183817 T C 255702 single nucleotide variant NM_004960.3(FUS):c.291C>T (p.Tyr97=) 1052352 MedGen:CN239175;MedGen:CN169374 16 31195279 31195279 C T 255702 single nucleotide variant NM_004960.3(FUS):c.291C>T (p.Tyr97=) 1052352 MedGen:CN239175;MedGen:CN169374 16 31183958 31183958 C T 255703 single nucleotide variant NM_004960.3(FUS):c.524-21T>C 74015090 MedGen:CN169374 16 31184918 31184918 T C 255703 single nucleotide variant NM_004960.3(FUS):c.524-21T>C 74015090 MedGen:CN169374 16 31196239 31196239 T C 255704 single nucleotide variant NM_004960.3(FUS):c.1394-16G>T 377713730 MedGen:CN169374 16 31190947 31190947 G T 255704 single nucleotide variant NM_004960.3(FUS):c.1394-16G>T 377713730 MedGen:CN169374 16 31202268 31202268 G T 255705 single nucleotide variant NM_004960.3(FUS):c.1464C>T (p.Gly488=) 150529460 MedGen:CN169374 16 31202354 31202354 C T 255705 single nucleotide variant NM_004960.3(FUS):c.1464C>T (p.Gly488=) 150529460 MedGen:CN169374 16 31191033 31191033 C T 264702 duplication NM_004960.3(FUS):c.1510_1514dupGGTGG (p.Phe506Valfs) 886041776 MedGen:CN221809 16 31202404 31202404 GGTGG GGTGGGGTGG 264702 duplication NM_004960.3(FUS):c.1510_1514dupGGTGG (p.Phe506Valfs) 886041776 MedGen:CN221809 16 31191079 31191083 GGTGG GGTGGGGTGG 264704 single nucleotide variant NM_004960.3(FUS):c.1572G>C (p.Arg524Ser) 886041389 MedGen:CN221809 16 31202750 31202750 G C 264704 single nucleotide variant NM_004960.3(FUS):c.1572G>C (p.Arg524Ser) 886041389 MedGen:CN221809 16 31191429 31191429 G C 264787 single nucleotide variant NM_004960.3(FUS):c.1574C>T (p.Pro525Leu) 886041390 MedGen:CN221809 16 31202752 31202752 C T 264787 single nucleotide variant NM_004960.3(FUS):c.1574C>T (p.Pro525Leu) 886041390 MedGen:CN221809 16 31191431 31191431 C T 264941 deletion NM_004960.3(FUS):c.1504_1505delGA (p.Asp502Glnfs) 886041577 MedGen:CN221809 16 31202394 31202395 GA - 264941 deletion NM_004960.3(FUS):c.1504_1505delGA (p.Asp502Glnfs) 886041577 MedGen:CN221809 16 31191073 31191074 GA - 325119 single nucleotide variant NM_004960.3(FUS):c.192A>G (p.Thr64=) 776333956 MedGen:CN239175 16 31183859 31183859 A G 325119 single nucleotide variant NM_004960.3(FUS):c.192A>G (p.Thr64=) 776333956 MedGen:CN239175 16 31195180 31195180 A G 325121 single nucleotide variant NM_004960.3(FUS):c.524-5C>T 73530287 MedGen:CN239175 16 31196255 31196255 C T 325121 single nucleotide variant NM_004960.3(FUS):c.524-5C>T 73530287 MedGen:CN239175 16 31184934 31184934 C T 325125 duplication NM_004960.3(FUS):c.684_686dupCGG (p.Gly231_Tyr232insGly) 886051935 MedGen:CN239175 16 31196420 31196422 CGG CGGCGG 325125 duplication NM_004960.3(FUS):c.684_686dupCGG (p.Gly231_Tyr232insGly) 886051935 MedGen:CN239175 16 31185099 31185101 CGG CGGCGG 325126 single nucleotide variant NM_004960.3(FUS):c.764+12A>C 143916861 MedGen:CN239175 16 31196512 31196512 A C 325126 single nucleotide variant NM_004960.3(FUS):c.764+12A>C 143916861 MedGen:CN239175 16 31185191 31185191 A C 325127 single nucleotide variant NM_004960.3(FUS):c.*41G>A 80301724 MedGen:CN239175 16 31202800 31202800 G A 325127 single nucleotide variant NM_004960.3(FUS):c.*41G>A 80301724 MedGen:CN239175 16 31191479 31191479 G A 325133 single nucleotide variant NM_004960.3(FUS):c.*356G>A 886051940 MedGen:CN239175 16 31203115 31203115 G A 325133 single nucleotide variant NM_004960.3(FUS):c.*356G>A 886051940 MedGen:CN239175 16 31191794 31191794 G A 325136 single nucleotide variant NM_004960.3(FUS):c.*770G>C 4889537 MedGen:CN239175 16 31203529 31203529 G C 325136 single nucleotide variant NM_004960.3(FUS):c.*770G>C 4889537 MedGen:CN239175 16 31192208 31192208 G C 325141 duplication NM_004960.3(FUS):c.*1004dupA 886051944 MedGen:CN239175 16 31203763 31203763 A AA 325141 duplication NM_004960.3(FUS):c.*1004dupA 886051944 MedGen:CN239175 16 31192442 31192442 A AA 325144 single nucleotide variant NM_004960.3(FUS):c.*1580A>G 886051946 MedGen:CN239175 16 31193018 31193018 A G 325144 single nucleotide variant NM_004960.3(FUS):c.*1580A>G 886051946 MedGen:CN239175 16 31204339 31204339 A G 325145 single nucleotide variant NM_004960.3(FUS):c.*1581T>C 751331525 MedGen:CN239175 16 31193019 31193019 T C 325145 single nucleotide variant NM_004960.3(FUS):c.*1581T>C 751331525 MedGen:CN239175 16 31204340 31204340 T C 325147 single nucleotide variant NM_004960.3(FUS):c.*1593C>T 577955571 MedGen:CN239175 16 31193031 31193031 C T 325147 single nucleotide variant NM_004960.3(FUS):c.*1593C>T 577955571 MedGen:CN239175 16 31204352 31204352 C T 325148 single nucleotide variant NM_004960.3(FUS):c.*1601C>T 886051947 MedGen:CN239175 16 31193039 31193039 C T 325148 single nucleotide variant NM_004960.3(FUS):c.*1601C>T 886051947 MedGen:CN239175 16 31204360 31204360 C T 325149 single nucleotide variant NM_004960.3(FUS):c.*1810C>A 886051950 MedGen:CN239175 16 31193248 31193248 C A 325149 single nucleotide variant NM_004960.3(FUS):c.*1810C>A 886051950 MedGen:CN239175 16 31204569 31204569 C A 325153 single nucleotide variant NM_004960.3(FUS):c.*3174T>G 3764324 MedGen:CN239175 16 31205933 31205933 T G 325153 single nucleotide variant NM_004960.3(FUS):c.*3174T>G 3764324 MedGen:CN239175 16 31194612 31194612 T G 325154 single nucleotide variant NM_004960.3(FUS):c.*3230A>G 550798081 MedGen:CN239175 16 31205989 31205989 A G 325154 single nucleotide variant NM_004960.3(FUS):c.*3230A>G 550798081 MedGen:CN239175 16 31194668 31194668 A G 325158 single nucleotide variant NM_004960.3(FUS):c.*3231T>C 193018950 MedGen:CN239175 16 31205990 31205990 T C 325158 single nucleotide variant NM_004960.3(FUS):c.*3231T>C 193018950 MedGen:CN239175 16 31194669 31194669 T C 334778 single nucleotide variant NM_004960.3(FUS):c.-54A>G 929867 MedGen:CN239175 16 31180161 31180161 A G 334778 single nucleotide variant NM_004960.3(FUS):c.-54A>G 929867 MedGen:CN239175 16 31191482 31191482 A G 334784 single nucleotide variant NM_004960.3(FUS):c.-53C>T 759668256 MedGen:CN239175 16 31180162 31180162 C T 334784 single nucleotide variant NM_004960.3(FUS):c.-53C>T 759668256 MedGen:CN239175 16 31191483 31191483 C T 334786 single nucleotide variant NM_004960.3(FUS):c.403A>G (p.Ser135Gly) 886051934 MedGen:CN239175 16 31184276 31184276 A G 334786 single nucleotide variant NM_004960.3(FUS):c.403A>G (p.Ser135Gly) 886051934 MedGen:CN239175 16 31195597 31195597 A G 334787 single nucleotide variant NM_004960.3(FUS):c.937-10C>T 199705472 MedGen:CN239175 16 31200976 31200976 C T 334787 single nucleotide variant NM_004960.3(FUS):c.937-10C>T 199705472 MedGen:CN239175 16 31189655 31189655 C T 334788 single nucleotide variant NM_004960.3(FUS):c.*214C>T 140875749 MedGen:CN239175 16 31202973 31202973 C T 334788 single nucleotide variant NM_004960.3(FUS):c.*214C>T 140875749 MedGen:CN239175 16 31191652 31191652 C T 334816 single nucleotide variant NM_004960.3(FUS):c.*270A>G 886051939 MedGen:CN239175 16 31203029 31203029 A G 334816 single nucleotide variant NM_004960.3(FUS):c.*270A>G 886051939 MedGen:CN239175 16 31191708 31191708 A G 334817 duplication NM_004960.3(FUS):c.*614dupT 886051941 MedGen:CN239175 16 31203373 31203373 T TT 334817 duplication NM_004960.3(FUS):c.*614dupT 886051941 MedGen:CN239175 16 31192052 31192052 T TT 334820 single nucleotide variant NM_004960.3(FUS):c.*687G>A 549602004 MedGen:CN239175 16 31203446 31203446 G A 334820 single nucleotide variant NM_004960.3(FUS):c.*687G>A 549602004 MedGen:CN239175 16 31192125 31192125 G A 334827 single nucleotide variant NM_004960.3(FUS):c.*1230C>G 886051945 MedGen:CN239175 16 31192668 31192668 C G 334827 single nucleotide variant NM_004960.3(FUS):c.*1230C>G 886051945 MedGen:CN239175 16 31203989 31203989 C G 334828 single nucleotide variant NM_004960.3(FUS):c.*1476T>C 11860134 MedGen:CN239175 16 31192914 31192914 T C 334828 single nucleotide variant NM_004960.3(FUS):c.*1476T>C 11860134 MedGen:CN239175 16 31204235 31204235 T C 334834 single nucleotide variant NM_004960.3(FUS):c.*1908C>T 886051952 MedGen:CN239175 16 31193346 31193346 C T 334834 single nucleotide variant NM_004960.3(FUS):c.*1908C>T 886051952 MedGen:CN239175 16 31204667 31204667 C T 334836 single nucleotide variant NM_004960.3(FUS):c.*2443A>G 189787862 MedGen:CN239175 16 31205202 31205202 A G 334836 single nucleotide variant NM_004960.3(FUS):c.*2443A>G 189787862 MedGen:CN239175 16 31193881 31193881 A G 334839 single nucleotide variant NM_004960.3(FUS):c.*2884A>T 554281103 MedGen:CN239175 16 31205643 31205643 A T 334839 single nucleotide variant NM_004960.3(FUS):c.*2884A>T 554281103 MedGen:CN239175 16 31194322 31194322 A T 334841 single nucleotide variant NM_004960.3(FUS):c.*2988C>T 73530301 MedGen:CN239175 16 31205747 31205747 C T 334841 single nucleotide variant NM_004960.3(FUS):c.*2988C>T 73530301 MedGen:CN239175 16 31194426 31194426 C T 341258 single nucleotide variant NM_004960.3(FUS):c.1156C>A (p.Arg386=) 61733965 MedGen:CN239175 16 31201450 31201450 C A 341258 single nucleotide variant NM_004960.3(FUS):c.1156C>A (p.Arg386=) 61733965 MedGen:CN239175 16 31190129 31190129 C A 341259 single nucleotide variant NM_004960.3(FUS):c.1181G>T (p.Arg394Leu) 886051936 MedGen:CN239175 16 31201608 31201608 G T 341259 single nucleotide variant NM_004960.3(FUS):c.1181G>T (p.Arg394Leu) 886051936 MedGen:CN239175 16 31190287 31190287 G T 341263 single nucleotide variant NM_004960.3(FUS):c.*196C>T 886051938 MedGen:CN239175 16 31202955 31202955 C T 341263 single nucleotide variant NM_004960.3(FUS):c.*196C>T 886051938 MedGen:CN239175 16 31191634 31191634 C T 341264 single nucleotide variant NM_004960.3(FUS):c.*408A>C 553760130 MedGen:CN239175 16 31203167 31203167 A C 341264 single nucleotide variant NM_004960.3(FUS):c.*408A>C 553760130 MedGen:CN239175 16 31191846 31191846 A C 341268 single nucleotide variant NM_004960.3(FUS):c.*415A>T 771689682 MedGen:CN239175 16 31203174 31203174 A T 341268 single nucleotide variant NM_004960.3(FUS):c.*415A>T 771689682 MedGen:CN239175 16 31191853 31191853 A T 341269 single nucleotide variant NM_004960.3(FUS):c.*491T>G 73530293 MedGen:CN239175 16 31203250 31203250 T G 341269 single nucleotide variant NM_004960.3(FUS):c.*491T>G 73530293 MedGen:CN239175 16 31191929 31191929 T G 341272 single nucleotide variant NM_004960.3(FUS):c.*805C>G 886051942 MedGen:CN239175 16 31203564 31203564 C G 341272 single nucleotide variant NM_004960.3(FUS):c.*805C>G 886051942 MedGen:CN239175 16 31192243 31192243 C G 341273 single nucleotide variant NM_004960.3(FUS):c.*926T>G 886051943 MedGen:CN239175 16 31192364 31192364 T G 341273 single nucleotide variant NM_004960.3(FUS):c.*926T>G 886051943 MedGen:CN239175 16 31203685 31203685 T G 341274 single nucleotide variant NM_004960.3(FUS):c.*1273C>T 371771617 MedGen:CN239175 16 31204032 31204032 C T 341274 single nucleotide variant NM_004960.3(FUS):c.*1273C>T 371771617 MedGen:CN239175 16 31192711 31192711 C T 341284 single nucleotide variant NM_004960.3(FUS):c.*1286C>G 547623704 MedGen:CN239175 16 31192724 31192724 C G 341284 single nucleotide variant NM_004960.3(FUS):c.*1286C>G 547623704 MedGen:CN239175 16 31204045 31204045 C G 341286 single nucleotide variant NM_004960.3(FUS):c.*1375C>T 542241137 MedGen:CN239175 16 31192813 31192813 C T 341286 single nucleotide variant NM_004960.3(FUS):c.*1375C>T 542241137 MedGen:CN239175 16 31204134 31204134 C T 341289 single nucleotide variant NM_004960.3(FUS):c.*1420C>T 73530295 MedGen:CN239175 16 31192858 31192858 C T 341289 single nucleotide variant NM_004960.3(FUS):c.*1420C>T 73530295 MedGen:CN239175 16 31204179 31204179 C T 341292 single nucleotide variant NM_004960.3(FUS):c.*1610C>T 538629605 MedGen:CN239175 16 31193048 31193048 C T 341292 single nucleotide variant NM_004960.3(FUS):c.*1610C>T 538629605 MedGen:CN239175 16 31204369 31204369 C T 341293 single nucleotide variant NM_004960.3(FUS):c.*1734C>T 886051949 MedGen:CN239175 16 31193172 31193172 C T 341293 single nucleotide variant NM_004960.3(FUS):c.*1734C>T 886051949 MedGen:CN239175 16 31204493 31204493 C T 341301 single nucleotide variant NM_004960.3(FUS):c.*1803C>T 16956408 MedGen:CN239175 16 31193241 31193241 C T 341301 single nucleotide variant NM_004960.3(FUS):c.*1803C>T 16956408 MedGen:CN239175 16 31204562 31204562 C T 341306 single nucleotide variant NM_004960.3(FUS):c.*1916A>G 759332004 MedGen:CN239175 16 31204675 31204675 A G 341306 single nucleotide variant NM_004960.3(FUS):c.*1916A>G 759332004 MedGen:CN239175 16 31193354 31193354 A G 341311 single nucleotide variant NM_004960.3(FUS):c.*1942G>A 886051953 MedGen:CN239175 16 31204701 31204701 G A 341311 single nucleotide variant NM_004960.3(FUS):c.*1942G>A 886051953 MedGen:CN239175 16 31193380 31193380 G A 341312 deletion NM_004960.3(FUS):c.*2393delT 886051956 MedGen:CN239175 16 31205152 31205152 T - 341312 deletion NM_004960.3(FUS):c.*2393delT 886051956 MedGen:CN239175 16 31193831 31193831 T - 341316 single nucleotide variant NM_004960.3(FUS):c.*2486G>A 73530298 MedGen:CN239175 16 31205245 31205245 G A 341316 single nucleotide variant NM_004960.3(FUS):c.*2486G>A 73530298 MedGen:CN239175 16 31193924 31193924 G A 341318 single nucleotide variant NM_004960.3(FUS):c.*2794G>C 17839571 MedGen:CN239175 16 31205553 31205553 G C 341318 single nucleotide variant NM_004960.3(FUS):c.*2794G>C 17839571 MedGen:CN239175 16 31194232 31194232 G C 341320 single nucleotide variant NM_004960.3(FUS):c.*2955A>G 149361851 MedGen:CN239175 16 31205714 31205714 A G 341320 single nucleotide variant NM_004960.3(FUS):c.*2955A>G 149361851 MedGen:CN239175 16 31194393 31194393 A G 341321 single nucleotide variant NM_004960.3(FUS):c.*3092C>T 886051958 MedGen:CN239175 16 31205851 31205851 C T 341321 single nucleotide variant NM_004960.3(FUS):c.*3092C>T 886051958 MedGen:CN239175 16 31194530 31194530 C T 341324 single nucleotide variant NM_004960.3(FUS):c.*3263T>G 886051959 MedGen:CN239175 16 31194701 31194701 T G 341324 single nucleotide variant NM_004960.3(FUS):c.*3263T>G 886051959 MedGen:CN239175 16 31206022 31206022 T G 342763 single nucleotide variant NM_004960.3(FUS):c.-49G>T 200997075 MedGen:CN239175 16 31191487 31191487 G T 342763 single nucleotide variant NM_004960.3(FUS):c.-49G>T 200997075 MedGen:CN239175 16 31180166 31180166 G T 342765 single nucleotide variant NM_004960.3(FUS):c.-39A>G 67676356 MedGen:CN239175 16 31180176 31180176 A G 342765 single nucleotide variant NM_004960.3(FUS):c.-39A>G 67676356 MedGen:CN239175 16 31191497 31191497 A G 342767 single nucleotide variant NM_004960.3(FUS):c.951G>A (p.Thr317=) 771216742 MedGen:CN239175 16 31201000 31201000 G A 342767 single nucleotide variant NM_004960.3(FUS):c.951G>A (p.Thr317=) 771216742 MedGen:CN239175 16 31189679 31189679 G A 342768 duplication NM_004960.3(FUS):c.1292+22dupT 886051937 MedGen:CN239175 16 31201741 31201741 T TT 342768 duplication NM_004960.3(FUS):c.1292+22dupT 886051937 MedGen:CN239175 16 31190420 31190420 T TT 342769 single nucleotide variant NM_004960.3(FUS):c.*626G>A 115626460 MedGen:CN239175 16 31203385 31203385 G A 342769 single nucleotide variant NM_004960.3(FUS):c.*626G>A 115626460 MedGen:CN239175 16 31192064 31192064 G A 342775 single nucleotide variant NM_004960.3(FUS):c.*910C>T 118018900 MedGen:CN239175 16 31203669 31203669 C T 342775 single nucleotide variant NM_004960.3(FUS):c.*910C>T 118018900 MedGen:CN239175 16 31192348 31192348 C T 342778 single nucleotide variant NM_004960.3(FUS):c.*989C>T 114772555 MedGen:CN239175 16 31192427 31192427 C T 342778 single nucleotide variant NM_004960.3(FUS):c.*989C>T 114772555 MedGen:CN239175 16 31203748 31203748 C T 342779 deletion NM_004960.3(FUS):c.*1145_*1146delCA 796431792 MedGen:CN239175 16 31192583 31192584 CA - 342779 deletion NM_004960.3(FUS):c.*1145_*1146delCA 796431792 MedGen:CN239175 16 31203904 31203905 CA - 342789 single nucleotide variant NM_004960.3(FUS):c.*1148A>T 140326191 MedGen:CN239175 16 31192586 31192586 A T 342789 single nucleotide variant NM_004960.3(FUS):c.*1148A>T 140326191 MedGen:CN239175 16 31203907 31203907 A T 342790 single nucleotide variant NM_004960.3(FUS):c.*1650C>T 886051948 MedGen:CN239175 16 31193088 31193088 C T 342790 single nucleotide variant NM_004960.3(FUS):c.*1650C>T 886051948 MedGen:CN239175 16 31204409 31204409 C T 342791 single nucleotide variant NM_004960.3(FUS):c.*1843G>A 886051951 MedGen:CN239175 16 31193281 31193281 G A 342791 single nucleotide variant NM_004960.3(FUS):c.*1843G>A 886051951 MedGen:CN239175 16 31204602 31204602 G A 342793 single nucleotide variant NM_004960.3(FUS):c.*1883T>C 549012470 MedGen:CN239175 16 31193321 31193321 T C 342793 single nucleotide variant NM_004960.3(FUS):c.*1883T>C 549012470 MedGen:CN239175 16 31204642 31204642 T C 342794 single nucleotide variant NM_004960.3(FUS):c.*1992A>C 146490489 MedGen:CN239175 16 31204751 31204751 A C 342794 single nucleotide variant NM_004960.3(FUS):c.*1992A>C 146490489 MedGen:CN239175 16 31193430 31193430 A C 342799 single nucleotide variant NM_004960.3(FUS):c.*1998T>C 182437252 MedGen:CN239175 16 31204757 31204757 T C 342799 single nucleotide variant NM_004960.3(FUS):c.*1998T>C 182437252 MedGen:CN239175 16 31193436 31193436 T C 342804 single nucleotide variant NM_004960.3(FUS):c.*2005G>T 140979886 MedGen:CN239175 16 31204764 31204764 G T 342804 single nucleotide variant NM_004960.3(FUS):c.*2005G>T 140979886 MedGen:CN239175 16 31193443 31193443 G T 342805 single nucleotide variant NM_004960.3(FUS):c.*2259G>C 886051954 MedGen:CN239175 16 31205018 31205018 G C 342805 single nucleotide variant NM_004960.3(FUS):c.*2259G>C 886051954 MedGen:CN239175 16 31193697 31193697 G C 342809 single nucleotide variant NM_004960.3(FUS):c.*2299A>C 774311328 MedGen:CN239175 16 31205058 31205058 A C 342809 single nucleotide variant NM_004960.3(FUS):c.*2299A>C 774311328 MedGen:CN239175 16 31193737 31193737 A C 342810 single nucleotide variant NM_004960.3(FUS):c.*2348G>A 775218493 MedGen:CN239175 16 31205107 31205107 G A 342810 single nucleotide variant NM_004960.3(FUS):c.*2348G>A 775218493 MedGen:CN239175 16 31193786 31193786 G A 342813 single nucleotide variant NM_004960.3(FUS):c.*2393T>A 541197027 MedGen:CN239175 16 31205152 31205152 T A 342813 single nucleotide variant NM_004960.3(FUS):c.*2393T>A 541197027 MedGen:CN239175 16 31193831 31193831 T A 342814 duplication NM_004960.3(FUS):c.*2393dupT 886051955 MedGen:CN239175 16 31193831 31193831 T TT 342814 duplication NM_004960.3(FUS):c.*2393dupT 886051955 MedGen:CN239175 16 31205152 31205152 T TT 342820 duplication NM_004960.3(FUS):c.*2459_*2461dupTCA 886051957 MedGen:CN239175 16 31205218 31205220 TCA TCATCA 342820 duplication NM_004960.3(FUS):c.*2459_*2461dupTCA 886051957 MedGen:CN239175 16 31193897 31193899 TCA TCATCA 360997 deletion NM_004960.3(FUS):c.13+10_13+12delGGC 1057518893 Human Phenotype Ontology:HP:0001332,MedGen:CN001220;Human Phenotype Ontology:HP:0001336,MedGen:CN001224 16 31191558 31191560 GGC - 360997 deletion NM_004960.3(FUS):c.13+10_13+12delGGC 1057518893 Human Phenotype Ontology:HP:0001332,MedGen:CN001220;Human Phenotype Ontology:HP:0001336,MedGen:CN001224 16 31180237 31180239 GGC - 361338 deletion NM_004960.3(FUS):c.667_675delGGCGGCGGC (p.Gly229_Gly231del) 776460861 MedGen:CN221809 16 31185082 31185090 GGCGGCGGC - 361338 deletion NM_004960.3(FUS):c.667_675delGGCGGCGGC (p.Gly229_Gly231del) 776460861 MedGen:CN221809 16 31196403 31196411 GGCGGCGGC -

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 31193942 rs741810 C A rs741810 4.68E-19 ACENOCOUMAROL CYP2C9 PROTEIN, HUMAN|VITAMIN K EPOXIDE REDUCTASES|VKORC1 PROTEIN, HUMAN|MIXED FUNCTION OXYGENASES|CYTOCHROME P-450 CYP2C9|ANTICOAGULANTS|ARYL HYDROCARBON HYDROXYLASES Acenocoumarol maintenance dosage HPOID:0005110 DOID:1247 C cds-synon GWASdb_drug 16 31195279 rs1052352 C T rs1052352 7.20E-11 PHENPROCOUMON VITAMIN K EPOXIDE REDUCTASES|CYTOCHROME P-450 CYP2C9|CYP4F2 PROTEIN, HUMAN|CYTOCHROME P-450 CYP3A|CYP3A4 PROTEIN, HUMAN|MIXED FUNCTION OXYGENASES|VKORC1 PROTEIN, HUMAN|CYP2C9 PROTEIN, HUMAN|ANTICOAGULANTS|CYTOCHROME P-450 ENZYME SYSTEM|ARYL HYDROCARBON HYDROXYLASES|APOLIPOPROTEINS E Warfarin responsiveness (phenprocoumon) HPOID:0004360 DOID:3393|DOID:9477 C cds-synon GWASdb_drug 16 31193942 rs741810 C A rs741810 4.68E-19 Acenocoumarol maintenance dosage HPOID:0005110 DOID:1247 C cds-synon GWASdb_trait 16 31195279 rs1052352 C T rs1052352 7.20E-11 Warfarin responsiveness (phenprocoumon) HPOID:0004360 DOID:3393|DOID:9477 C cds-synon GWASdb_trait 16 31203529 rs4889537 G C rs4889537 3.65E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000089280.18 FUS 137070