| - GRCh37:
- Chr9:35067896
- GRCh38:
- Chr9:35067899
| VCP | D53E, D98E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Likely pathogenic
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35068347
- GRCh38:
- Chr9:35068350
| VCP | D10E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jun 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35068069
- GRCh38:
- Chr9:35068072
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35061078
- GRCh38:
- Chr9:35061081
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056898
- GRCh38:
- Chr9:35056901
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056897
- GRCh38:
- Chr9:35056900
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35066782
- GRCh38:
- Chr9:35066785
| VCP | K112R, K67R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35066733
- GRCh38:
- Chr9:35066736
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35065382
- GRCh38:
- Chr9:35065385
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Conflicting interpretations of pathogenicity
(Apr 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35064268
- GRCh38:
- Chr9:35064271
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056747
- GRCh38:
- Chr9:35056750
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35064162
- GRCh38:
- Chr9:35064165
| VCP | I188V, I233V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, not provided,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35062992
- GRCh38:
- Chr9:35062995
| VCP | F265S, F220S | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35057102
- GRCh38:
- Chr9:35057105
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35057099
- GRCh38:
- Chr9:35057102
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056229
- GRCh38:
- Chr9:35056232
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35062354
- GRCh38:
- Chr9:35062357
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign/Likely benign
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35057051
- GRCh38:
- Chr9:35057054
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056113
- GRCh38:
- Chr9:35056116
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056074
- GRCh38:
- Chr9:35056077
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, not provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
| Conflicting interpretations of pathogenicity
(May 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35068336
- GRCh38:
- Chr9:35068339
| VCP | T14I | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,
not specified | Uncertain significance
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35062327
- GRCh38:
- Chr9:35062330
| VCP | | not specified, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35059207
- GRCh38:
- Chr9:35059210
| VCP | L627V, L672V | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Aug 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35066743
- GRCh38:
- Chr9:35066746
| VCP | G125D, G80D | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
| Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35061695
- GRCh38:
- Chr9:35061698
| VCP | | not specified, not provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35072720
- GRCh38:
- Chr9:35072723
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35072617
- GRCh38:
- Chr9:35072620
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion Body Myopathy, Dominant,
Amyotrophic Lateral Sclerosis, Dominant | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35072600
- GRCh38:
- Chr9:35072603
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35072565
- GRCh38:
- Chr9:35072568
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35072403
- GRCh38:
- Chr9:35072406
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35068364
- GRCh38:
- Chr9:35068367
| VCP | | not provided, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35068005
- GRCh38:
- Chr9:35068008
| VCP | K62R, K17R | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35062232
- GRCh38:
- Chr9:35062235
| VCP | | not provided, not specified, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inborn genetic diseases | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35061676
- GRCh38:
- Chr9:35061679
| VCP | | Inborn genetic diseases, not provided, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35060926
- GRCh38:
- Chr9:35060929
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35057050
- GRCh38:
- Chr9:35057053
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056961
- GRCh38:
- Chr9:35056964
| VCP | | not provided, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
| Benign
(Jul 6, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35056942
- GRCh38:
- Chr9:35056945
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056930
- GRCh38:
- Chr9:35056933
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056767
- GRCh38:
- Chr9:35056770
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056732
- GRCh38:
- Chr9:35056735
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056676
- GRCh38:
- Chr9:35056679
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056518
- GRCh38:
- Chr9:35056521
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056414
- GRCh38:
- Chr9:35056417
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056326
- GRCh38:
- Chr9:35056329
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35056208
- GRCh38:
- Chr9:35056211
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35057110
- GRCh38:
- Chr9:35057113
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, not specified, not provided,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Conflicting interpretations of pathogenicity
(Apr 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35068298
- GRCh38:
- Chr9:35068301
| VCP | I27V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
not specified, not provided, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,
Inborn genetic diseases | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35060421
- GRCh38:
- Chr9:35060424
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inborn genetic diseases,
not provided, not specified, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35067907
- GRCh38:
- Chr9:35067910
| VCP | R95C, R50C | Inborn genetic diseases, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Spastic paraplegia, not provided, Amyotrophic lateral sclerosis,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Conflicting interpretations of pathogenicity
(Jan 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35062972
- GRCh38:
- Chr9:35062975
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, not specified,
Charcot-Marie-Tooth disease type 2Y, not provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35059790
- GRCh38:
- Chr9:35059793
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inborn genetic diseases,
not specified, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, not provided,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35060302
- GRCh38:
- Chr9:35060305
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Charcot-Marie-Tooth disease type 2Y,
not specified, not provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35060955
- GRCh38:
- Chr9:35060958
| VCP | | not specified, Charcot-Marie-Tooth disease type 2Y, not provided,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35060934
- GRCh38:
- Chr9:35060937
| VCP | | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, not specified,
not provided, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
| Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35068201
- GRCh38:
- Chr9:35068204
| VCP | | Charcot-Marie-Tooth disease type 2Y, not specified, not provided,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35067919
- GRCh38:
- Chr9:35067922
| VCP | N91Y, N46Y | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Pathogenic
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35065361
- GRCh38:
- Chr9:35065364
| VCP | R155G, R110G | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, not provided,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Pathogenic/Likely pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35057129
- GRCh38:
- Chr9:35057132
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases,
not specified, not provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35057474
- GRCh38:
- Chr9:35057477
| VCP | | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases,
not specified, not provided, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35065348
- GRCh38:
- Chr9:35065351
| VCP | R159H, R114H | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, not provided
| Pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35065252
- GRCh38:
- Chr9:35065255
| VCP | R191Q, R146Q | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Charcot-Marie-Tooth disease type 2Y, not provided,
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35065360
- GRCh38:
- Chr9:35065363
| VCP | R155P, R110P | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, not provided
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:35067907
- GRCh38:
- Chr9:35067910
| VCP | R95G, R50G | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Pathogenic
(Jan 15, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr9:35064164
- GRCh38:
- Chr9:35064167
| VCP | A232E, A187E | not provided | Pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:35065361
- GRCh38:
- Chr9:35065364
| VCP | R155C, R110C | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, not provided,
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Pathogenic/Likely pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35065360
- GRCh38:
- Chr9:35065363
| VCP | R155H, R110H | Inborn genetic diseases, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,
not provided, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | Pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |