1 |
VCP |
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) |
SNV |
Pathogenic |
593071 |
rs1554669087 |
9:35067913-35067913 |
9:35067916-35067916 |
2 |
VCP |
NM_007126.5(VCP):c.464G>A (p.Arg155His) |
SNV |
Pathogenic |
8468 |
rs121909329 |
9:35065360-35065360 |
9:35065363-35065363 |
3 |
VCP |
NM_007126.5(VCP):c.476G>A (p.Arg159His) |
SNV |
Pathogenic |
8474 |
rs121909335 |
9:35065348-35065348 |
9:35065351-35065351 |
4 |
VCP |
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) |
SNV |
Pathogenic |
30152 |
rs387906789 |
9:35065349-35065349 |
9:35065352-35065352 |
5 |
VCP |
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) |
SNV |
Pathogenic |
30153 |
rs387906790 |
9:35059720-35059720 |
9:35059723-35059723 |
6 |
VCP |
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) |
SNV |
Pathogenic/Likely pathogenic |
280123 |
rs387906789 |
9:35065349-35065349 |
9:35065352-35065352 |
7 |
VCP |
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) |
SNV |
Pathogenic/Likely pathogenic |
8469 |
rs121909330 |
9:35065361-35065361 |
9:35065364-35065364 |
8 |
VCP |
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) |
SNV |
Pathogenic/Likely pathogenic |
8473 |
rs121909334 |
9:35065252-35065252 |
9:35065255-35065255 |
9 |
VCP |
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) |
SNV |
Likely pathogenic |
873223 |
|
9:35065252-35065252 |
9:35065255-35065255 |
10 |
VCP |
NM_007126.5(VCP):c.384T>C (p.Gly128=) |
SNV |
Conflicting interpretations of pathogenicity |
914193 |
|
9:35066733-35066733 |
9:35066736-35066736 |
11 |
VCP |
NM_007126.5(VCP):c.2406T>C (p.Asp802=) |
SNV |
Conflicting interpretations of pathogenicity |
194756 |
rs145508640 |
9:35057129-35057129 |
9:35057132-35057132 |
12 |
VCP |
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) |
SNV |
Conflicting interpretations of pathogenicity |
217028 |
rs121909330 |
9:35065361-35065361 |
9:35065364-35065364 |
13 |
VCP |
NM_007126.5(VCP):c.278G>A (p.Arg93His) |
SNV |
Conflicting interpretations of pathogenicity |
449554 |
rs779959657 |
9:35067912-35067912 |
9:35067915-35067915 |
14 |
VCP |
NM_007126.5(VCP):c.426G>A (p.Ala142=) |
SNV |
Conflicting interpretations of pathogenicity |
464109 |
rs577812326 |
9:35066691-35066691 |
9:35066694-35066694 |
15 |
VCP |
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) |
SNV |
Conflicting interpretations of pathogenicity |
532761 |
rs1554668805 |
9:35065346-35065346 |
9:35065349-35065349 |
16 |
VCP |
NM_007126.5(VCP):c.1584C>T (p.Ala528=) |
SNV |
Conflicting interpretations of pathogenicity |
283215 |
rs147623367 |
9:35060421-35060421 |
9:35060424-35060424 |
17 |
VCP |
NM_007126.5(VCP):c.1374G>C (p.Gln458His) |
SNV |
Uncertain significance |
397543 |
rs1060499674 |
9:35060906-35060906 |
9:35060909-35060909 |
18 |
VCP |
NM_007126.5(VCP):c.*382C>T |
SNV |
Uncertain significance |
366710 |
rs749381324 |
9:35056732-35056732 |
9:35056735-35056735 |
19 |
VCP |
NM_007126.5(VCP):c.*184G>A |
SNV |
Uncertain significance |
366712 |
rs886063889 |
9:35056930-35056930 |
9:35056933-35056933 |
20 |
VCP |
NM_007126.5(VCP):c.*64C>T |
SNV |
Uncertain significance |
366715 |
rs553370942 |
9:35057050-35057050 |
9:35057053-35057053 |
21 |
VCP |
NM_007126.5(VCP):c.1360-6T>C |
SNV |
Uncertain significance |
366717 |
rs370296303 |
9:35060926-35060926 |
9:35060929-35060929 |
22 |
VCP |
NM_007126.5(VCP):c.*788G>A |
SNV |
Uncertain significance |
366705 |
rs886063887 |
9:35056326-35056326 |
9:35056329-35056329 |
23 |
VCP |
NM_007126.5(VCP):c.*347C>T |
SNV |
Uncertain significance |
366711 |
rs886063888 |
9:35056767-35056767 |
9:35056770-35056770 |
24 |
VCP |
NM_007126.5(VCP):c.*172C>G |
SNV |
Uncertain significance |
366713 |
rs886063890 |
9:35056942-35056942 |
9:35056945-35056945 |
25 |
VCP |
NM_007126.5(VCP):c.-215A>G |
SNV |
Uncertain significance |
366723 |
rs886063893 |
9:35072565-35072565 |
9:35072568-35072568 |
26 |
VCP |
NM_007126.5(VCP):c.-250C>T |
SNV |
Uncertain significance |
366725 |
rs886063894 |
9:35072600-35072600 |
9:35072603-35072603 |
27 |
VCP |
NM_007126.5(VCP):c.954C>T (p.Gly318=) |
SNV |
Uncertain significance |
287400 |
rs377316335 |
9:35062127-35062127 |
9:35062130-35062130 |
28 |
VCP |
NM_007126.5(VCP):c.*700C>A |
SNV |
Uncertain significance |
366706 |
rs537730311 |
9:35056414-35056414 |
9:35056417-35056417 |
29 |
VCP |
NM_007126.3(VCP):c.-370G>A |
SNV |
Uncertain significance |
366727 |
rs886063895 |
9:35072720-35072720 |
9:35072723-35072723 |
30 |
VCP |
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) |
SNV |
Uncertain significance |
366720 |
rs886063892 |
9:35068005-35068005 |
9:35068008-35068008 |
31 |
VCP |
NM_007126.5(VCP):c.-53C>T |
SNV |
Uncertain significance |
366722 |
rs369830702 |
9:35072403-35072403 |
9:35072406-35072406 |
32 |
VCP |
NM_007126.5(VCP):c.1360-4C>G |
SNV |
Uncertain significance |
532759 |
rs769279961 |
9:35060924-35060924 |
9:35060927-35060927 |
33 |
VCP |
NM_007126.5(VCP):c.1327A>C (p.Asn443His) |
SNV |
Uncertain significance |
532760 |
rs770514866 |
9:35061044-35061044 |
9:35061047-35061047 |
34 |
VCP |
NM_007126.5(VCP):c.479C>T (p.Ala160Val) |
SNV |
Uncertain significance |
532758 |
rs1554668804 |
9:35065345-35065345 |
9:35065348-35065348 |
35 |
VCP |
NM_007126.5(VCP):c.303-3C>T |
SNV |
Uncertain significance |
464108 |
rs1183711292 |
9:35066817-35066817 |
9:35066820-35066820 |
36 |
VCP |
NM_007126.5(VCP):c.811+2_811+3inv |
inversion |
Uncertain significance |
464111 |
rs1554668584 |
9:35062972-35062973 |
9:35062975-35062976 |
37 |
VCP |
NM_007126.5(VCP):c.284G>C (p.Arg95Pro) |
SNV |
Uncertain significance |
595911 |
rs758169026 |
9:35067906-35067906 |
9:35067909-35067909 |
38 |
VCP |
NM_007126.5(VCP):c.340A>G (p.Ile114Val) |
SNV |
Uncertain significance |
597496 |
rs549915384 |
9:35066777-35066777 |
9:35066780-35066780 |
39 |
VCP |
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys) |
SNV |
Uncertain significance |
653332 |
|
9:35057422-35057422 |
9:35057425-35057425 |
40 |
VCP |
NM_007126.5(VCP):c.2014T>G (p.Leu672Val) |
SNV |
Uncertain significance |
647081 |
|
9:35059207-35059207 |
9:35059210-35059210 |
41 |
VCP |
NM_007126.5(VCP):c.1180G>A (p.Val394Met) |
SNV |
Uncertain significance |
656560 |
|
9:35061588-35061588 |
9:35061591-35061591 |
42 |
VCP |
NM_007126.5(VCP):c.512G>T (p.Ser171Ile) |
SNV |
Uncertain significance |
640109 |
|
9:35065312-35065312 |
9:35065315-35065315 |
43 |
VCP |
NM_007126.5(VCP):c.84T>A (p.Val28=) |
SNV |
Uncertain significance |
638960 |
|
9:35068293-35068293 |
9:35068296-35068296 |
44 |
VCP |
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) |
SNV |
Uncertain significance |
568017 |
rs1329151473 |
9:35057138-35057138 |
9:35057141-35057141 |
45 |
VCP |
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) |
SNV |
Uncertain significance |
572697 |
rs765795425 |
9:35059510-35059510 |
9:35059513-35059513 |
46 |
VCP |
NM_007126.5(VCP):c.1194+3G>A |
SNV |
Uncertain significance |
565903 |
rs183223259 |
9:35061571-35061571 |
9:35061574-35061574 |
47 |
VCP |
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) |
SNV |
Uncertain significance |
569394 |
rs1563980403 |
9:35066743-35066743 |
9:35066746-35066746 |
48 |
VCP |
NM_007126.5(VCP):c.320A>T (p.Asp107Val) |
SNV |
Uncertain significance |
575232 |
rs1563980440 |
9:35066797-35066797 |
9:35066800-35066800 |
49 |
VCP |
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) |
SNV |
Uncertain significance |
218305 |
rs864309501 |
9:35065271-35065271 |
9:35065274-35065274 |
50 |
VCP |
NM_007126.5(VCP):c.446-4G>A |
SNV |
Uncertain significance |
914192 |
|
9:35065382-35065382 |
9:35065385-35065385 |