Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23507 single nucleotide variant NM_007126.3(VCP):c.464G>A (p.Arg155His) 121909329 MedGen:C3152097;MedGen:C1833662,OMIM:167320 9 35065360 35065360 C T 23507 single nucleotide variant NM_007126.3(VCP):c.464G>A (p.Arg155His) 121909329 MedGen:C3152097;MedGen:C1833662,OMIM:167320 9 35065363 35065363 C T 23508 single nucleotide variant NM_007126.3(VCP):c.463C>T (p.Arg155Cys) 121909330 MedGen:C1833662,OMIM:167320;MedGen:CN221809 9 35065361 35065361 G A 23508 single nucleotide variant NM_007126.3(VCP):c.463C>T (p.Arg155Cys) 121909330 MedGen:C1833662,OMIM:167320;MedGen:CN221809 9 35065364 35065364 G A 23509 single nucleotide variant NM_007126.3(VCP):c.695C>A (p.Ala232Glu) 121909331 MedGen:C1833662,OMIM:167320 9 35064164 35064164 G T 23509 single nucleotide variant NM_007126.3(VCP):c.695C>A (p.Ala232Glu) 121909331 MedGen:C1833662,OMIM:167320 9 35064167 35064167 G T 23510 single nucleotide variant NM_007126.3(VCP):c.283C>G (p.Arg95Gly) 121909332 MedGen:C1833662,OMIM:167320 9 35067907 35067907 G C 23510 single nucleotide variant NM_007126.3(VCP):c.283C>G (p.Arg95Gly) 121909332 MedGen:C1833662,OMIM:167320 9 35067910 35067910 G C 23511 single nucleotide variant NM_007126.3(VCP):c.464G>C (p.Arg155Pro) 121909329 MedGen:C1833662,OMIM:167320 9 35065360 35065360 C G 23511 single nucleotide variant NM_007126.3(VCP):c.464G>C (p.Arg155Pro) 121909329 MedGen:C1833662,OMIM:167320 9 35065363 35065363 C G 23512 single nucleotide variant NM_007126.3(VCP):c.572G>A (p.Arg191Gln) 121909334 MedGen:C3151403,OMIM:613954;MedGen:C1833662,OMIM:167320 9 35065252 35065252 C T 23512 single nucleotide variant NM_007126.3(VCP):c.572G>A (p.Arg191Gln) 121909334 MedGen:C3151403,OMIM:613954;MedGen:C1833662,OMIM:167320 9 35065255 35065255 C T 23513 single nucleotide variant NM_007126.3(VCP):c.476G>A (p.Arg159His) 121909335 MedGen:C1833662,OMIM:167320;MedGen:CN221809 9 35065348 35065348 C T 23513 single nucleotide variant NM_007126.3(VCP):c.476G>A (p.Arg159His) 121909335 MedGen:C1833662,OMIM:167320;MedGen:CN221809 9 35065351 35065351 C T 39108 single nucleotide variant NM_007126.3(VCP):c.475C>G (p.Arg159Gly) 387906789 MedGen:C3151403,OMIM:613954 9 35065349 35065349 G C 39108 single nucleotide variant NM_007126.3(VCP):c.475C>G (p.Arg159Gly) 387906789 MedGen:C3151403,OMIM:613954 9 35065352 35065352 G C 39109 single nucleotide variant NM_007126.3(VCP):c.1774G>A (p.Asp592Asn) 387906790 MedGen:C3152097 9 35059720 35059720 C T 39109 single nucleotide variant NM_007126.3(VCP):c.1774G>A (p.Asp592Asn) 387906790 MedGen:C3152097 9 35059723 35059723 C T 191808 single nucleotide variant NM_007126.3(VCP):c.2214A>G (p.Glu738=) 374391034 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35057474 35057474 T C 191808 single nucleotide variant NM_007126.3(VCP):c.2214A>G (p.Glu738=) 374391034 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35057477 35057477 T C 191919 single nucleotide variant NM_007126.3(VCP):c.2406T>C (p.Asp802=) 145508640 MedGen:CN169374 9 35057129 35057129 A G 191919 single nucleotide variant NM_007126.3(VCP):c.2406T>C (p.Asp802=) 145508640 MedGen:CN169374 9 35057132 35057132 A G 213592 single nucleotide variant NM_007126.3(VCP):c.463C>G (p.Arg155Gly) 121909330 MedGen:C1833662,OMIM:167320 9 35065364 35065364 G C 213592 single nucleotide variant NM_007126.3(VCP):c.463C>G (p.Arg155Gly) 121909330 MedGen:C1833662,OMIM:167320 9 35065361 35065361 G C 214539 single nucleotide variant NM_007126.3(VCP):c.271A>T (p.Asn91Tyr) 863225291 MedGen:C1833662,OMIM:167320 9 35067922 35067922 T A 214539 single nucleotide variant NM_007126.3(VCP):c.271A>T (p.Asn91Tyr) 863225291 MedGen:C1833662,OMIM:167320 9 35067919 35067919 T A 215001 single nucleotide variant NM_007126.3(VCP):c.553G>A (p.Glu185Lys) 864309501 MedGen:CN234389,OMIM:616687 9 35065271 35065271 C T 215001 single nucleotide variant NM_007126.3(VCP):c.553G>A (p.Glu185Lys) 864309501 MedGen:CN234389,OMIM:616687 9 35065274 35065274 C T 215002 single nucleotide variant NM_007126.3(VCP):c.290G>A (p.Gly97Glu) 864309502 MedGen:CN234389,OMIM:616687 9 35067900 35067900 C T 215002 single nucleotide variant NM_007126.3(VCP):c.290G>A (p.Gly97Glu) 864309502 MedGen:CN234389,OMIM:616687 9 35067903 35067903 C T 253524 single nucleotide variant NM_007126.3(VCP):c.2316-48C>T 369994179 MedGen:CN169374 9 35057270 35057270 G A 253524 single nucleotide variant NM_007126.3(VCP):c.2316-48C>T 369994179 MedGen:CN169374 9 35057267 35057267 G A 253525 single nucleotide variant NM_007126.3(VCP):c.1704A>G (p.Gln568=) 142577424 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35059790 35059790 T C 253525 single nucleotide variant NM_007126.3(VCP):c.1704A>G (p.Gln568=) 142577424 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35059793 35059793 T C 253526 single nucleotide variant NM_007126.3(VCP):c.1695+8A>G 684562 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35060302 35060302 T C 253526 single nucleotide variant NM_007126.3(VCP):c.1695+8A>G 684562 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35060305 35060305 T C 253527 single nucleotide variant NM_007126.3(VCP):c.1360-14C>G 144304208 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35060937 35060937 G C 253527 single nucleotide variant NM_007126.3(VCP):c.1360-14C>G 144304208 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35060934 35060934 G C 253528 single nucleotide variant NM_007126.3(VCP):c.1360-35A>G 2258240 MedGen:CN169374 9 35060955 35060955 T C 253528 single nucleotide variant NM_007126.3(VCP):c.1360-35A>G 2258240 MedGen:CN169374 9 35060958 35060958 T C 253529 deletion NM_007126.3(VCP):c.1194+15_1194+17delATG 886038581 MedGen:CN169374 9 35061560 35061562 CAT - 253529 deletion NM_007126.3(VCP):c.1194+15_1194+17delATG 886038581 MedGen:CN169374 9 35061557 35061559 CAT - 253530 duplication NM_007126.3(VCP):c.1082-18_1082-8dupTTGTGTACTGT 11272867 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35061694 35061704 ACAGTACACAA ACAGTACACAAACAGTACACAA 253530 duplication NM_007126.3(VCP):c.1082-18_1082-8dupTTGTGTACTGT 11272867 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35061697 35061707 ACAGTACACAA ACAGTACACAAACAGTACACAA 253531 single nucleotide variant NM_007126.3(VCP):c.1081+17C>T 200756991 MedGen:CN169374 9 35061986 35061986 G A 253531 single nucleotide variant NM_007126.3(VCP):c.1081+17C>T 200756991 MedGen:CN169374 9 35061983 35061983 G A 253532 single nucleotide variant NM_007126.3(VCP):c.811+3G>A 514492 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35062972 35062972 C T 253532 single nucleotide variant NM_007126.3(VCP):c.811+3G>A 514492 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35062975 35062975 C T 253533 deletion NM_007126.3(VCP):c.577-21_577-18delCTTT 763622603 MedGen:CN169374 9 35064303 35064306 AAAG - 253533 deletion NM_007126.3(VCP):c.577-21_577-18delCTTT 763622603 MedGen:CN169374 9 35064300 35064303 AAAG - 253534 single nucleotide variant NM_007126.3(VCP):c.129+47G>A 10972300 MedGen:CN169374 9 35068201 35068201 C T 253534 single nucleotide variant NM_007126.3(VCP):c.129+47G>A 10972300 MedGen:CN169374 9 35068204 35068204 C T 264328 single nucleotide variant NM_007126.3(VCP):c.475C>T (p.Arg159Cys) 387906789 MedGen:CN221809 9 35065349 35065349 G A 264328 single nucleotide variant NM_007126.3(VCP):c.475C>T (p.Arg159Cys) 387906789 MedGen:CN221809 9 35065352 35065352 G A 264531 single nucleotide variant NM_007126.3(VCP):c.283C>T (p.Arg95Cys) 121909332 MedGen:CN221809 9 35067907 35067907 G A 264531 single nucleotide variant NM_007126.3(VCP):c.283C>T (p.Arg95Cys) 121909332 MedGen:CN221809 9 35067910 35067910 G A 267452 single nucleotide variant NM_007126.3(VCP):c.1584C>T (p.Ala528=) 147623367 MedGen:CN169374 9 35060421 35060421 G A 267452 single nucleotide variant NM_007126.3(VCP):c.1584C>T (p.Ala528=) 147623367 MedGen:CN169374 9 35060424 35060424 G A 268539 single nucleotide variant NM_007126.3(VCP):c.79A>G (p.Ile27Val) 140913250 MedGen:CN169374 9 35068298 35068298 T C 268539 single nucleotide variant NM_007126.3(VCP):c.79A>G (p.Ile27Val) 140913250 MedGen:CN169374 9 35068301 35068301 T C 268541 single nucleotide variant NM_007126.3(VCP):c.*4G>T 201091341 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35057110 35057110 C A 268541 single nucleotide variant NM_007126.3(VCP):c.*4G>T 201091341 MedGen:CN239175;MedGen:CN239244;MedGen:CN169374 9 35057113 35057113 C A 271001 single nucleotide variant NM_007126.3(VCP):c.1121C>A (p.Ala374Asp) 886043471 MedGen:CN169374 9 35061647 35061647 G T 271001 single nucleotide variant NM_007126.3(VCP):c.1121C>A (p.Ala374Asp) 886043471 MedGen:CN169374 9 35061650 35061650 G T 271637 single nucleotide variant NM_007126.3(VCP):c.954C>T (p.Gly318=) 377316335 MedGen:CN169374 9 35062127 35062127 G A 271637 single nucleotide variant NM_007126.3(VCP):c.954C>T (p.Gly318=) 377316335 MedGen:CN169374 9 35062130 35062130 G A 275114 single nucleotide variant NM_007126.3(VCP):c.1197A>G (p.Val399=) 886044575 MedGen:CN169374 9 35061174 35061174 T C 275114 single nucleotide variant NM_007126.3(VCP):c.1197A>G (p.Val399=) 886044575 MedGen:CN169374 9 35061177 35061177 T C 308234 duplication NM_007126.3(VCP):c.*1035dupA 886063886 MedGen:CN239175;MedGen:CN239244 9 35056082 35056082 T TT 308234 duplication NM_007126.3(VCP):c.*1035dupA 886063886 MedGen:CN239175;MedGen:CN239244 9 35056079 35056079 T TT 308235 single nucleotide variant NM_007126.3(VCP):c.*596C>T 55745923 MedGen:CN239175;MedGen:CN239244 9 35056521 35056521 G A 308235 single nucleotide variant NM_007126.3(VCP):c.*596C>T 55745923 MedGen:CN239175;MedGen:CN239244 9 35056518 35056518 G A 308243 single nucleotide variant NM_007126.3(VCP):c.*438A>G 137953487 MedGen:CN239175;MedGen:CN239244 9 35056679 35056679 T C 308243 single nucleotide variant NM_007126.3(VCP):c.*438A>G 137953487 MedGen:CN239175;MedGen:CN239244 9 35056676 35056676 T C 308244 single nucleotide variant NM_007126.3(VCP):c.*382C>T 749381324 MedGen:CN239175;MedGen:CN239244 9 35056732 35056732 G A 308244 single nucleotide variant NM_007126.3(VCP):c.*382C>T 749381324 MedGen:CN239175;MedGen:CN239244 9 35056735 35056735 G A 308246 single nucleotide variant NM_007126.3(VCP):c.*184G>A 886063889 MedGen:CN239175;MedGen:CN239244 9 35056933 35056933 C T 308246 single nucleotide variant NM_007126.3(VCP):c.*184G>A 886063889 MedGen:CN239175;MedGen:CN239244 9 35056930 35056930 C T 308247 single nucleotide variant NM_007126.3(VCP):c.*64C>T 553370942 MedGen:CN239175;MedGen:CN239244 9 35057053 35057053 G A 308247 single nucleotide variant NM_007126.3(VCP):c.*64C>T 553370942 MedGen:CN239175;MedGen:CN239244 9 35057050 35057050 G A 308255 single nucleotide variant NM_007126.3(VCP):c.1360-6T>C 370296303 MedGen:CN239175;MedGen:CN239244 9 35060929 35060929 A G 308255 single nucleotide variant NM_007126.3(VCP):c.1360-6T>C 370296303 MedGen:CN239175;MedGen:CN239244 9 35060926 35060926 A G 312609 single nucleotide variant NM_007126.3(VCP):c.*788G>A 886063887 MedGen:CN239175;MedGen:CN239244 9 35056329 35056329 C T 312609 single nucleotide variant NM_007126.3(VCP):c.*788G>A 886063887 MedGen:CN239175;MedGen:CN239244 9 35056326 35056326 C T 312615 deletion NM_007126.3(VCP):c.*384delT 532445930 MedGen:CN239175;MedGen:CN239244 9 35056733 35056733 A - 312615 deletion NM_007126.3(VCP):c.*384delT 532445930 MedGen:CN239175;MedGen:CN239244 9 35056730 35056730 A - 312619 single nucleotide variant NM_007126.3(VCP):c.*347C>T 886063888 MedGen:CN239175;MedGen:CN239244 9 35056770 35056770 G A 312619 single nucleotide variant NM_007126.3(VCP):c.*347C>T 886063888 MedGen:CN239175;MedGen:CN239244 9 35056767 35056767 G A 312628 single nucleotide variant NM_007126.3(VCP):c.*172C>G 886063890 MedGen:CN239175;MedGen:CN239244 9 35056945 35056945 G C 312628 single nucleotide variant NM_007126.3(VCP):c.*172C>G 886063890 MedGen:CN239175;MedGen:CN239244 9 35056942 35056942 G C 312631 single nucleotide variant NM_007126.3(VCP):c.-215A>G 886063893 MedGen:CN239175;MedGen:CN239244 9 35072565 35072565 T C 312631 single nucleotide variant NM_007126.3(VCP):c.-215A>G 886063893 MedGen:CN239175;MedGen:CN239244 9 35072568 35072568 T C 312632 single nucleotide variant NM_007126.3(VCP):c.-250C>T 886063894 MedGen:CN239175;MedGen:CN239244 9 35072600 35072600 G A 312632 single nucleotide variant NM_007126.3(VCP):c.-250C>T 886063894 MedGen:CN239175;MedGen:CN239244 9 35072603 35072603 G A 312633 single nucleotide variant NM_007126.3(VCP):c.-267C>T 184152880 MedGen:CN239175;MedGen:CN239244 9 35072617 35072617 G A 312633 single nucleotide variant NM_007126.3(VCP):c.-267C>T 184152880 MedGen:CN239175;MedGen:CN239244 9 35072620 35072620 G A 318524 single nucleotide variant NM_007126.3(VCP):c.*906A>G 76360394 MedGen:CN239175;MedGen:CN239244 9 35056211 35056211 T C 318524 single nucleotide variant NM_007126.3(VCP):c.*906A>G 76360394 MedGen:CN239175;MedGen:CN239244 9 35056208 35056208 T C 318528 single nucleotide variant NM_007126.3(VCP):c.*700C>A 537730311 MedGen:CN239175;MedGen:CN239244 9 35056417 35056417 G T 318528 single nucleotide variant NM_007126.3(VCP):c.*700C>A 537730311 MedGen:CN239175;MedGen:CN239244 9 35056414 35056414 G T 318529 single nucleotide variant NM_007126.3(VCP):c.*153G>T 1053318 MedGen:CN239175;MedGen:CN239244 9 35056964 35056964 C A 318529 single nucleotide variant NM_007126.3(VCP):c.*153G>T 1053318 MedGen:CN239175;MedGen:CN239244 9 35056961 35056961 C A 318533 single nucleotide variant NM_007126.3(VCP):c.1856T>C (p.Ile619Thr) 886063891 MedGen:CN239175;MedGen:CN239244 9 35059641 35059641 A G 318533 single nucleotide variant NM_007126.3(VCP):c.1856T>C (p.Ile619Thr) 886063891 MedGen:CN239175;MedGen:CN239244 9 35059638 35059638 A G 318534 single nucleotide variant NM_007126.3(VCP):c.18-5T>C 114256093 MedGen:CN239175;MedGen:CN239244 9 35068367 35068367 A G 318534 single nucleotide variant NM_007126.3(VCP):c.18-5T>C 114256093 MedGen:CN239175;MedGen:CN239244 9 35068364 35068364 A G 318542 duplication NM_007126.3(VCP):c.-221_-216dupGCTGCC 879074973 MedGen:CN239175;MedGen:CN239244 9 35072566 35072571 GGCAGC GGCAGCGGCAGC 318542 duplication NM_007126.3(VCP):c.-221_-216dupGCTGCC 879074973 MedGen:CN239175;MedGen:CN239244 9 35072569 35072574 GGCAGC GGCAGCGGCAGC 318546 single nucleotide variant NM_007126.3(VCP):c.-370G>A 886063895 MedGen:CN239175;MedGen:CN239244 9 35072720 35072720 C T 318546 single nucleotide variant NM_007126.3(VCP):c.-370G>A 886063895 MedGen:CN239175;MedGen:CN239244 9 35072723 35072723 C T 319032 single nucleotide variant NM_007126.3(VCP):c.1092C>T (p.Asp364=) 61752947 MedGen:CN239175;MedGen:CN239244 9 35061679 35061679 G A 319032 single nucleotide variant NM_007126.3(VCP):c.1092C>T (p.Asp364=) 61752947 MedGen:CN239175;MedGen:CN239244 9 35061676 35061676 G A 319044 single nucleotide variant NM_007126.3(VCP):c.927C>T (p.Ile309=) 34097935 MedGen:CN239175;MedGen:CN239244 9 35062235 35062235 G A 319044 single nucleotide variant NM_007126.3(VCP):c.927C>T (p.Ile309=) 34097935 MedGen:CN239175;MedGen:CN239244 9 35062232 35062232 G A 319050 single nucleotide variant NM_007126.3(VCP):c.185A>G (p.Lys62Arg) 886063892 MedGen:CN239175;MedGen:CN239244 9 35068008 35068008 T C 319050 single nucleotide variant NM_007126.3(VCP):c.185A>G (p.Lys62Arg) 886063892 MedGen:CN239175;MedGen:CN239244 9 35068005 35068005 T C 319056 single nucleotide variant NM_007126.3(VCP):c.-53C>T 369830702 MedGen:CN239175;MedGen:CN239244 9 35072403 35072403 G A 319056 single nucleotide variant NM_007126.3(VCP):c.-53C>T 369830702 MedGen:CN239175;MedGen:CN239244 9 35072406 35072406 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000165280.15 VCP 601023