Full data view for gene VCP

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_007126.3 transcript reference sequence.

205 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-4942T>G r.(?) p.(=) Unknown - likely benign g.35077292A>C g.35077295A>C FANCG(NM_004629.1):c.615T>G (p.D205E) - FANCG_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4920_-4914del r.(?) p.(=) Unknown - pathogenic g.35077267_35077273del - - - FANCG_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4405C>T r.(?) p.(=) Unknown - benign g.35076755G>A g.35076758G>A FANCG(NM_004629.1):c.890C>T (p.T297I) - FANCG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-4405C>T r.(?) p.(=) Unknown - benign g.35076755G>A - FANCG(NM_004629.1):c.890C>T (p.T297I) - FANCG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4167C>T r.(?) p.(=) Unknown - benign g.35076517G>A g.35076520G>A FANCG(NM_004629.1):c.988C>T (p.P330S) - FANCG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4167C>T r.(?) p.(=) Unknown - benign g.35076517G>A - FANCG(NM_004629.1):c.988C>T (p.P330S) - FANCG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3619C>T r.(?) p.(=) Unknown - benign g.35075969G>A g.35075972G>A FANCG(NM_004629.1):c.1133C>T (p.(Ser378Leu), p.S378L) - FANCG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3619C>T r.(?) p.(=) Unknown - likely benign g.35075969G>A - FANCG(NM_004629.1):c.1133C>T (p.(Ser378Leu), p.S378L) - FANCG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3388C>T r.(?) p.(=) Unknown - likely benign g.35075738G>A g.35075741G>A FANCG(NM_004629.1):c.1157C>T (p.P386L) - FANCG_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-2672G>A r.(?) p.(=) Unknown - benign g.35075022C>T g.35075025C>T FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q) - FANCG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2672G>A r.(?) p.(=) Unknown - likely benign g.35075022C>T g.35075025C>T FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q) - FANCG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2672G>A r.(?) p.(=) Unknown - benign g.35075022C>T - FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q) - FANCG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2623G>A r.(?) p.(=) Unknown - likely benign g.35074973C>T g.35074976C>T FANCG(NM_004629.1):c.1587G>A (p.Q529=) - FANCG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-2567A>G r.(?) p.(=) Unknown - benign g.35074917T>C g.35074920T>C FANCG(NM_004629.1):c.1636+7A>G - FANCG_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.18-5T>C r.spl? p.? Unknown - likely benign g.35068364A>G g.35068367A>G VCP(NM_007126.3):c.18-5T>C - VCP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.18-5T>C r.spl? p.? Unknown - benign g.35068364A>G g.35068367A>G VCP(NM_007126.3):c.18-5T>C - VCP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18-5T>C r.spl? p.? Unknown - benign g.35068364A>G - VCP(NM_007126.3):c.18-5T>C - VCP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.79A>G r.(?) p.(Ile27Val) Unknown - VUS g.35068298T>C g.35068301T>C VCP(NM_007126.3):c.79A>G (p.I27V) - VCP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.79A>G r.(?) p.(Ile27Val) Unknown - likely benign g.35068298T>C g.35068301T>C VCP(NM_007126.3):c.79A>G (p.I27V) - VCP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91G>A r.(?) p.(Ala31Thr) Unknown - VUS g.35068286C>T g.35068289C>T VCP(NM_007126.3):c.91G>A (p.A31T) - VCP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.234T>C r.(?) p.(Ser78=) Unknown - likely benign g.35067956A>G g.35067959A>G VCP(NM_007126.3):c.234T>C (p.S78=) - VCP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.237T>G r.(?) p.(Asp79Glu) Unknown - VUS g.35067953A>C - VCP(NM_007126.3):c.237T>G (p.D79E) - VCP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.248G>A r.(?) p.(Arg83Gln) Unknown - likely pathogenic g.35067942C>T g.35067945C>T VCP(NM_007126.3):c.248G>A (p.R83Q) - VCP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) Unknown - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - - white - 0 - - 1 Marc Cruts
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) Unknown - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - Progressive cognitive impairment since late 60s - - - - - 0 - - 1 Marc Cruts
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) Unknown - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - MPD - - - - - - Asian - 0 - - 1 Marc Cruts
+/. 3 c.277C>T r.(?) p.(Arg93Cys) Unknown - pathogenic (dominant) g.35067913G>A g.35067916G>A - - VCP_000027 - PubMed: Evilä 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - MyoCap 180 myopathy gene panel MYOP P5 PubMed: Evilä 2016 - - - Germany - - 0 - - 1 Johan den Dunnen
+?/. - c.277C>T r.(?) p.(Arg93Cys) Unknown ACMG likely pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 ACMG grading: PS3,PS4,PM2,PP3; age at diagnosis: 35y; Cali et al. 1991. J 226: 7779; Grupta et al. 2007. Metabolism 56: 1248; Smalley et al. 2015. Genet 38: 30 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - Germany - - 0 - - 1 Andreas Laner
+?/. 3 c.278G>A r.(?) p.(Arg93His) Paternal (confirmed) - likely pathogenic g.35067912C>T g.35067915C>T - - VCP_000012 de novo occurrence testing, unaffected father PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - 0 - DNA SEQ - - IBMPFD Pat10mov;Pat19 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - 0 - - 1 Marcel Nelen
?/. - c.278G>A r.(?) p.(Arg93His) Unknown - VUS g.35067912C>T g.35067915C>T - - VCP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.(283C>G) r.(?) p.(Arg95Gly) Unknown - pathogenic g.35067907G>C g.35067910G>C - - VCP_000004 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white - 0 - - 1 Marc Cruts
+/+ 3 c.(283C>T) r.(?) p.(Arg95Cys) Unknown - pathogenic g.35067907G>A g.35067910G>A - - VCP_000026 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - - - - - - - - - - 0 - - 1 Marc Cruts
+/. 3 c.283C>G r.(?) p.(Arg95Gly) Parent #1 - pathogenic g.35067907G>C g.35067910G>C - - VCP_000004 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0004 - - Germline - - RsaI- 0 - DNA SEQ - - IBMPFD 15034582-Fam9 PubMed: Watts 2004, OMIM:var0004 5-generation family, 6 affecteds - - United States - - 0 - - 6 Johan den Dunnen
+/. 3 c.283C>G r.283c>g p.Arg95Gly Unknown - NA g.35067907G>C g.35067910G>C - - VCP_000004 expression cloning normal ATPase activity/hexameric structure, increased ubiquitin-conjugated proteins, increase diffuse/aggregated ubiquitin conjugates, impaired endoplasmic reticulum-associated degradation function, distorted ER structure PubMed: Weihl 2006, OMIM:var0004 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.(284G>A) r.(?) p.(Arg95His) Unknown - VUS g.35067906C>T g.35067909C>T - - VCP_000025 Observed in 3 late-onset Alzheimer's disease patients sharing a chromosome 9 haplotype. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - AD - - - - - - - - 0 - - 1 Marc Cruts
?/? 3 c.(284G>A) r.(?) p.(Arg95His) Unknown - VUS g.35067906C>T g.35067909C>T - - VCP_000025 Observed in 3 late-onset Alzheimer's disease patients sharing a chromosome 9 haplotype. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - AD - - - - - - - - 0 - - 1 Marc Cruts
?/? 3 c.(284G>A) r.(?) p.(Arg95His) Unknown - VUS g.35067906C>T g.35067909C>T - - VCP_000025 Observed in 3 late-onset Alzheimer's disease patients sharing a chromosome 9 haplotype. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - AD - - - - - - - - 0 - - 1 Marc Cruts
?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - VUS g.35066777T>C g.35066780T>C VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)) - VCP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - VUS g.35066777T>C g.35066780T>C VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)) - VCP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - likely benign g.35066777T>C g.35066780T>C VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)) - VCP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - VUS g.35066777T>C - VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)) - VCP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - VUS g.35066777T>C - VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)) - VCP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.376A>T r.(?) p.(Ile126Phe) Unknown - VUS g.35066741T>A g.35066744T>A - - VCP_000011 - - - - Unknown - - - 0 - DNA SEQ - - IBMPFD ? - - - no Japan Japanese - 0 - - 1 Shiro Matsubara
?/. 4 c.383G>C r.(?) p.(Gly128Ala) Unknown - VUS g.35066734C>G g.35066737C>G - - VCP_000009 - - - - Unknown - - - 0 - DNA PCR, SEQ - - IBM ? - - M - United States - - 0 - - 1 Tom Winder
+?/. 4 c.383G>T r.(?) p.(Gly128Val) Paternal (confirmed) - likely pathogenic g.35066734C>A g.35066737C>A - - VCP_000013 - - - - Germline yes - - 0 - DNA SEQ BLOOD - IBM - - - - - - - - 0 - - 1 Gisela Nogales
+/+ 4 c.410C>T r.(?) p.(Pro137Leu) Unknown - pathogenic g.35066707G>A g.35066710G>A - - VCP_000024 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 1 Marc Cruts
+/. - c.410C>T r.(?) p.(Pro137Leu) Unknown - pathogenic g.35066707G>A g.35066710G>A - - VCP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411G>C r.(?) p.(Pro137=) Unknown - likely benign g.35066706C>G g.35066709C>G VCP(NM_007126.3):c.411G>C (p.P137=) - VCP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445+92dup r.(=) p.(=) Unknown - likely benign g.35066592dup g.35066595dup VCP(NM_007126.3):c.445+92dupT - VCP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.446-17A>G r.(=) p.(=) Unknown - likely benign g.35065395T>C g.35065398T>C VCP(NM_007126.3):c.446-17A>G - VCP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.446-17A>G r.(=) p.(=) Unknown - likely benign g.35065395T>C g.35065398T>C VCP(NM_007126.3):c.446-17A>G - VCP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.451A>G r.(?) p.(Ile151Val) Unknown - pathogenic g.35065373T>C g.35065376T>C - - VCP_000010 - - - - De novo - - - 0 - DNA SEQ-NG-IT - - ? ? - - M - Australia white - 0 - - 1 Robert Boland-Freitas
+/+ 5 c.(463C>A) r.(?) p.(Arg155Ser) Unknown - pathogenic g.35065361G>T g.35065364G>T - - VCP_000023 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 2 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white (Northern European Ancestry) 60y04m 0 - - 4 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white (German Ancestry) - 0 - - 3 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - Dementia at 50 years - - Germany white 49y 0 - - 1 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - - white 63y10m 0 - - 9 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - Italy white 58y06m 0 - - 2 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 2 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 3 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 1 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - Korea Asian - 0 - - 3 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - - Asian - 0 - - 1 Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) Unknown - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - ? - - - - - - Asian - 0 - - 1 Marc Cruts
+/. 5 c.463C>T r.(?) p.(Arg155Cys) Parent #1 - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 mapped by linkage, haplogroup-B; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0002 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam2 PubMed: Watts 2004, OMIM:var0002 6-generation family, 20 affecteds - - United States Europe - 0 - - 20 Johan den Dunnen
+/. 5 c.463C>T r.(?) p.(Arg155Cys) Parent #1 - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 mapped by linkage, haplogroup-B; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0002 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam5 PubMed: Watts 2004, OMIM:var0002 4-generation family, 11 affecteds - - United States Europe - 0 - - 11 Johan den Dunnen
+?/. - c.463C>T r.(?) p.(Arg155Cys) Parent #1 - likely pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat209 PubMed: Park 2017 - F - Korea - - 0 - - 1 Johan den Dunnen
+?/. 5 c.463C>T r.(?) p.(Arg155Cys) Parent #1 ACMG likely pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 ACMG PM1, PM2, PM5, PP3, PP4_mod PubMed: Cerino 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel MYOP P76/Myo152 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - 0 - - 1 Johan den Dunnen
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white (Northern European Ancestry) 69y 0 - - 3 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white (Northern European Ancestry) 63y 0 - - 7 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - No dementia - - United States white (Northern European Ancestry) - 0 - - 1 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white (Northern European Ancestry) - 0 - - 4 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white 64y04m 0 - - 5 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - No dementia - - United States white - 0 - - 1 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white (Scottish Ancestry) - 0 - - 1 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - Italy white 56y 0 - - 2 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 2 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - LGMD - - - - - - Asian - 0 - - 1 Marc Cruts
+/+ 5 c.(464G>C) r.(?) p.(Arg155Pro) Unknown - pathogenic g.35065360C>G g.35065363C>G - - VCP_000005 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - IBMPFD - - - - - United States white - 0 - - 1 Marc Cruts
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam1 PubMed: Watts 2004, OMIM:var0001 6-generation family, 29 affecteds - - United States Europe - 0 - - 29 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam3 PubMed: Watts 2004, OMIM:var0001 4-generation family, 8 affecteds - - United States Europe - 0 - - 8 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam7 PubMed: Watts 2004, OMIM:var0001 3-generation family, 10 affecteds - - United States Europe - 0 - - 10 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam16 PubMed: Watts 2004, OMIM:var0001 4-generation family, 6 affecteds - - United States Europe - 0 - - 6 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam4 PubMed: Watts 2004, OMIM:var0001 4-generation family, 12 affecteds - - United States Europe - 0 - - 12 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam10 PubMed: Watts 2004, OMIM:var0001 5-generation family, 6 affecteds - - United States - - 0 - - 6 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - DNA DHPLC, SEQ - - IBMPFD 15034582-Fam15 PubMed: Watts 2004, OMIM:var0001 4-generation family, 8 affecteds - - United States - - 0 - - 8 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Viassolo 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - IBMPFD 18341608-Fam1 PubMed: Viassolo 2008 5-generation family, 8 affecteds - - Italy - - 0 - - 8 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - - - - Germline - - - 0 - DNA PCR, SEQ - - IBM ? - - F - United States - - 0 - - 1 Tom Winder
+/. 5 c.464G>A r.464g>a p.Arg155His Unknown - NA g.35065360C>T g.35065363C>T - - VCP_000001 expression cloning normal ATPase activity/hexameric structure, increased ubiquitin-conjugated proteins, increase diffuse/aggregated ubiquitin conjugates, impaired endoplasmic reticulum-associated degradation function, distorted ER structure PubMed: Weihl 2006, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - NMD Pat19 PubMed: Thomas 2022 no family history - no France - - 0 - - 1 Johan den Dunnen
+/. 5 c.464G>C r.(?) p.(Arg155Pro) Parent #1 - pathogenic g.35065360C>G g.35065363C>G - - VCP_000005 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - IBMPFD 15034582-Fam11 PubMed: Tucker 1982 5-generation family, 9 affecteds - - United States - - 0 - - 9 Johan den Dunnen
?/? 5 c.464G>T r.(?) p.(Arg155Leu) Unknown - VUS g.35065360C>A g.35065363C>A - - VCP_000022 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - Australia Anglo-Saxon - 0 - - 3 Marc Cruts
+/+ 5 c.(469G>C) r.(?) p.(Gly157Arg) Unknown - pathogenic g.35065355C>G g.35065358C>G - - VCP_000021 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - DNA ? - - ?, IBMPFD - - - - - Germany white 67y 0 - - 4 Marc Cruts
+/+ 5 c.(469G>C) r.(?) p.(Gly157Arg) Unknown - pathogenic g.35065355C>G g.35065358C>G - - VCP_000021 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - France; Spain white - 0 - - 2 Marc Cruts
+/+ 5 c.(475C>T) r.(?) p.(Arg159Cys) Unknown - pathogenic g.35065349G>A g.35065352G>A - - VCP_000020 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - Italy white - 0 - - 1 Marc Cruts
+/+ 5 c.(475C>T) r.(?) p.(Arg159Cys) Unknown - pathogenic g.35065349G>A g.35065352G>A - - VCP_000020 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - IBMPFD - - - - - - - 75y 0 - - 2 Marc Cruts
+/. - c.475C>T r.(?) p.(Arg159Cys) Unknown - pathogenic g.35065349G>A g.35065352G>A VCP(NM_007126.3):c.475C>T (p.R159C) - VCP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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