Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Childhood Onset VCP-related Neurodevelopmental Disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2Y | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2Y +3 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene