ClinVar for MedGen (Select 1641069) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068549	NM_007126.5(VCP):c.563C>T (p.Pro188Leu)	VCP (P143L +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	GUncertain significance
Select item 2582679	NM_007126.5(VCP):c.766C>G (p.Arg256Gly)	VCP (R211G +1 more)	Single nucleotide variant (missense variant)	Childhood Onset VCP-related Neurodevelopmental Disorder +3 more	GLikely pathogenic
Select item 976025	NM_007126.5(VCP):c.294T>A (p.Asp98Glu)	VCP (D53E +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	GLikely pathogenic
Select item 931551	NM_007126.5(VCP):c.30T>A (p.Asp10Glu)	VCP (D10E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	GUncertain significance
Select item 914689	NM_007126.5(VCP):c.130-9T>C	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 914650	NM_007126.5(VCP):c.1293C>T (p.Asp431=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 914611	NM_007126.5(VCP):c.*216G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 914610	NM_007126.5(VCP):c.*217G>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 914194	NM_007126.5(VCP):c.335A>G (p.Lys112Arg)	VCP (K112R +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +2 more	GUncertain significance
Select item 914193	NM_007126.5(VCP):c.384T>C (p.Gly128=)	VCP	Single nucleotide variant (synonymous variant)	VCP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 914192	NM_007126.5(VCP):c.446-4G>A	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 914191	NM_007126.5(VCP):c.591C>G (p.Ser197=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 914100	NM_007126.5(VCP):c.*367G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 913795	NM_007126.5(VCP):c.697A>G (p.Ile233Val)	VCP (I188V +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more	GUncertain significance
Select item 913794	NM_007126.5(VCP):c.794T>C (p.Phe265Ser)	VCP (F265S +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 913746	NM_007126.5(VCP):c.*12C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GBenign/Likely benign
Select item 913745	NM_007126.5(VCP):c.*15C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GBenign/Likely benign
Select item 913703	NM_007126.5(VCP):c.*885G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 912685	NM_007126.5(VCP):c.812-7C>G	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more	GBenign/Likely benign
Select item 912643	NM_007126.5(VCP):c.*63G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 912608	NM_007126.5(VCP):c.*1001C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign/Likely benign
Select item 912607	NM_007126.5(VCP):c.*1040T>C	VCP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 873235	NM_007126.5(VCP):c.41C>T (p.Thr14Ile)	VCP (T14I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GUncertain significance
Select item 706186	NM_007126.5(VCP):c.832T>C (p.Leu278=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more	GBenign
Select item 647081	NM_007126.5(VCP):c.2014T>G (p.Leu672Val)	VCP (L627V +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 569394	NM_007126.5(VCP):c.374G>A (p.Gly125Asp)	VCP (G125D +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
Select item 464103	NM_007126.5(VCP):c.1082-9G>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +4 more	GBenign
Select item 366727	NM_007126.4(VCP):c.-370G>A	VCP	Single nucleotide variant	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 366726	NM_007126.5(VCP):c.-267C>T	VCP	Single nucleotide variant (5 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +3 more	GBenign/Likely benign
Select item 366725	NM_007126.5(VCP):c.-250C>T	VCP	Single nucleotide variant (5 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366723	NM_007126.5(VCP):c.-215A>G	VCP	Single nucleotide variant (5 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366722	NM_007126.5(VCP):c.-53C>T	VCP	Single nucleotide variant (5 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366721	NM_007126.5(VCP):c.18-5T>C	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +3 more	GBenign
Select item 366720	NM_007126.5(VCP):c.185A>G (p.Lys62Arg)	VCP (K62R +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366719	NM_007126.5(VCP):c.927C>T (p.Ile309=)	VCP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 366718	NM_007126.5(VCP):c.1092C>T (p.Asp364=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +5 more	GBenign/Likely benign
Select item 366717	NM_007126.5(VCP):c.1360-6T>C	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 366715	NM_007126.5(VCP):c.*64C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 366714	NM_007126.5(VCP):c.*153G>T	VCP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 366713	NM_007126.5(VCP):c.*172C>G	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 366712	NM_007126.5(VCP):c.*184G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366711	NM_007126.5(VCP):c.*347C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366710	NM_007126.5(VCP):c.*382C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366708	NM_007126.5(VCP):c.*438A>G	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 366707	NM_007126.5(VCP):c.*596C>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 366706	NM_007126.5(VCP):c.*700C>A	VCP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366705	NM_007126.5(VCP):c.*788G>A	VCP	Single nucleotide variant (3 prime UTR variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more	GUncertain significance
Select item 366704	NM_007126.5(VCP):c.*906A>G	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GBenign
Select item 284304	NM_007126.5(VCP):c.*4G>T	VCP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more	GConflicting classifications of pathogenicity
Select item 284302	NM_007126.5(VCP):c.79A>G (p.Ile27Val)	VCP (I27V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GBenign/Likely benign
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 +6 more	GConflicting classifications of pathogenicity
Select item 280124	NM_007126.5(VCP):c.283C>T (p.Arg95Cys)	VCP (R95C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +6 more	GConflicting classifications of pathogenicity
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 260125	NM_007126.5(VCP):c.1704A>G (p.Gln568=)	VCP	Single nucleotide variant (synonymous variant)	VCP-related condition +6 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 260123	NM_007126.5(VCP):c.1360-35A>G	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more	GBenign
Select item 260122	NM_007126.5(VCP):c.1360-14C>G	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more	GBenign/Likely benign
Select item 260121	NM_007126.5(VCP):c.129+47G>A	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more	GBenign
Select item 217877	NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)	VCP (N91Y +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GPathogenic
Select item 217028	NM_007126.5(VCP):c.463C>G (p.Arg155Gly)	VCP (R155G +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more	GPathogenic/Likely pathogenic
Select item 194756	NM_007126.5(VCP):c.2406T>C (p.Asp802=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more	GBenign/Likely benign
Select item 194645	NM_007126.5(VCP):c.2214A>G (p.Glu738=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +5 more	GBenign/Likely benign
Select item 8474	NM_007126.5(VCP):c.476G>A (p.Arg159His)	VCP (R159H +1 more)	Single nucleotide variant (missense variant)	VCP-related condition +3 more	GPathogenic
Select item 8473	NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	VCP (R191Q +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more	GPathogenic/Likely pathogenic
Select item 8472	NM_007126.5(VCP):c.464G>C (p.Arg155Pro)	VCP (R155P +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
Select item 8471	NM_007126.5(VCP):c.283C>G (p.Arg95Gly)	VCP (R95G +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	GPathogenic
Select item 8470	NM_007126.5(VCP):c.695C>A (p.Ala232Glu)	VCP (A232E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8469	NM_007126.5(VCP):c.463C>T (p.Arg155Cys)	VCP (R155C +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +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 +4 more	GPathogenic

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Items: 69