"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284304	NM_007126.5(VCP):c.*4G>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +3 more	GConflicting classifications of pathogenicity
Select item 260125	NM_007126.5(VCP):c.1704A>G (p.Gln568=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +5 more	GBenign/Likely benign
Select item 260124	NM_007126.5(VCP):c.1695+8A>G	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more	GBenign
Select item 283215	NM_007126.5(VCP):c.1584C>T (p.Ala528=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more	GConflicting classifications of pathogenicity
Select item 260122	NM_007126.5(VCP):c.1360-14C>G	VCP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 464103	NM_007126.5(VCP):c.1082-9G>T	VCP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 260118	NM_007126.5(VCP):c.1081+17C>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more	GBenign/Likely benign
Select item 260128	NM_007126.5(VCP):c.811+3G>A	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more	GBenign
Select item 8474	NM_007126.5(VCP):c.476G>A (p.Arg159His)	VCP (R159H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 280123	NM_007126.5(VCP):c.475C>T (p.Arg159Cys)	VCP (R159C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more	GPathogenic/Likely pathogenic
Select item 8468	NM_007126.5(VCP):c.464G>A (p.Arg155His)	VCP (R155H +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more	GPathogenic
Select item 1284707	NM_007126.5(VCP):c.446-17A>G	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 366721	NM_007126.5(VCP):c.18-5T>C	VCP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 134361	NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	FANCG, VCP (R513Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 134367	NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)	VCP, FANCG (T297I)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +5 more	GBenign/Likely benign