NM_007126.5(VCP):c.463C>T (p.Arg155Cys)Pathogenic
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|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
★★☆☆2026→ Residue 155
NM_007126.5(VCP):c.464G>A (p.Arg155His)Pathogenic
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 provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Inborn genetic diseases
★★☆☆2025→ Residue 155
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)Pathogenic
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
★★☆☆2025→ Residue 159
NM_007126.5(VCP):c.476G>A (p.Arg159His)Pathogenic
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|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|VCP-related disorder
★★☆☆2025→ Residue 159
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)Pathogenic
not provided|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
★★☆☆2025→ Residue 93
NM_007126.5(VCP):c.410C>T (p.Pro137Leu)Pathogenic
Charcot-Marie-Tooth disease type 2Y|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
★★☆☆2025→ Residue 137
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)Pathogenic
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Charcot-Marie-Tooth disease type 2Y;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
★★☆☆2025→ Residue 191
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)Pathogenic
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
★★☆☆2025→ Residue 156
NM_007126.5(VCP):c.812G>A (p.Gly271Asp)Pathogenic
not provided
★★☆☆2025→ Residue 271
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)Likely pathogenic
Childhood Onset VCP-related Neurodevelopmental Disorder|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
★★☆☆2023→ Residue 256
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)Pathogenic
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
★★☆☆2023→ Residue 191
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)Likely pathogenic
Charcot-Marie-Tooth disease type 2Y|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Inborn genetic diseases
★★☆☆2022→ Residue 185
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)Pathogenic
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
★★☆☆2022→ Residue 155
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)Likely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
★☆☆☆2025→ Residue 95
NM_007126.5(VCP):c.2077C>T (p.Arg693Cys)Likely pathogenic
not provided
★☆☆☆2025→ Residue 693
NM_007126.5(VCP):c.1951_1952insTG (p.Lys651fs)Pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 651
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)Pathogenic
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
★☆☆☆2025→ Residue 91
NM_007126.5(VCP):c.784A>G (p.Thr262Ala)Pathogenic
not provided
★☆☆☆2025→ Residue 262
NM_007126.5(VCP):c.475C>A (p.Arg159Ser)Likely pathogenic
Amyotrophic lateral sclerosis type 6|not provided
★☆☆☆2025→ Residue 159
NM_007126.5(VCP):c.1073G>A (p.Arg358Gln)Likely pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 358