All variants in the VCP gene

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     

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     

Owner     
-?/. - c.-4942T>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.-4920_-4914del r.(?) p.(=) - pathogenic g.35077267_35077273del - - - FANCG_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-4405C>T r.(?) p.(=) - 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 - VKGL-NL_VUmc
-/. - c.-4405C>T r.(?) p.(=) - benign g.35076755G>A - FANCG(NM_004629.1):c.890C>T (p.T297I) - FANCG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-4167C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_VUmc
-/. - c.-4167C>T r.(?) p.(=) - benign g.35076517G>A - FANCG(NM_004629.1):c.988C>T (p.P330S) - FANCG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-3619C>T r.(?) p.(=) - 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 - VKGL-NL_VUmc
-?/. - c.-3619C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.-3388C>T r.(?) p.(=) - 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 - VKGL-NL_VUmc
-/. - c.-2672G>A r.(?) p.(=) - 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 - VKGL-NL_VUmc
-?/. - c.-2672G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-/. - c.-2672G>A r.(?) p.(=) - benign g.35075022C>T - FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q) - FANCG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-2623G>A r.(?) p.(=) - 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 - VKGL-NL_Rotterdam
-/. - c.-2567A>G r.(?) p.(=) - 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 - VKGL-NL_Groningen
-?/. - c.18-5T>C r.spl? p.? - 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 - VKGL-NL_VUmc
-/. - c.18-5T>C r.spl? p.? - benign g.35068364A>G g.35068367A>G VCP(NM_007126.3):c.18-5T>C - VCP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.18-5T>C r.spl? p.? - benign g.35068364A>G - VCP(NM_007126.3):c.18-5T>C - VCP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.79A>G r.(?) p.(Ile27Val) - 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 - VKGL-NL_Rotterdam
-?/. - c.79A>G r.(?) p.(Ile27Val) - 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 - - - - - VKGL-NL_AMC
?/. - c.91G>A r.(?) p.(Ala31Thr) - 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 - VKGL-NL_VUmc
-?/. - c.234T>C r.(?) p.(Ser78=) - 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 - VKGL-NL_AMC
?/. - c.237T>G r.(?) p.(Asp79Glu) - VUS g.35067953A>C - VCP(NM_007126.3):c.237T>G (p.D79E) - VCP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.248G>A r.(?) p.(Arg83Gln) - 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 - VKGL-NL_Utrecht
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. 3 c.277C>T r.(?) p.(Arg93Cys) - pathogenic (dominant) g.35067913G>A g.35067916G>A - - VCP_000027 - PubMed: Evilä 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.277C>T r.(?) p.(Arg93Cys) 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 - Andreas Laner
+?/. 3 c.278G>A r.(?) p.(Arg93His) - 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 - Marcel Nelen
?/. - c.278G>A r.(?) p.(Arg93His) - VUS g.35067912C>T g.35067915C>T - - VCP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 3 c.(283C>G) r.(?) p.(Arg95Gly) - pathogenic g.35067907G>C g.35067910G>C - - VCP_000004 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 3 c.(283C>T) r.(?) p.(Arg95Cys) - pathogenic g.35067907G>A g.35067910G>A - - VCP_000026 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. 3 c.283C>G r.(?) p.(Arg95Gly) - pathogenic g.35067907G>C g.35067910G>C - - VCP_000004 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0004 - - Germline - - RsaI- 0 - Johan den Dunnen
+/. 3 c.283C>G r.283c>g p.Arg95Gly - 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 - Johan den Dunnen
?/? 3 c.(284G>A) r.(?) p.(Arg95His) - 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 - Marc Cruts
?/? 3 c.(284G>A) r.(?) p.(Arg95His) - 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 - Marc Cruts
?/? 3 c.(284G>A) r.(?) p.(Arg95His) - 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 - Marc Cruts
?/. - c.340A>G r.(?) p.(Ile114Val) - 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 - VKGL-NL_Nijmegen
?/. - c.340A>G r.(?) p.(Ile114Val) - 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 - - - - - VKGL-NL_AMC
-?/. - c.340A>G r.(?) p.(Ile114Val) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.340A>G r.(?) p.(Ile114Val) - 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 - - - - - VKGL-NL_VUmc
?/. - c.340A>G r.(?) p.(Ile114Val) - 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 - - - - - VKGL-NL_Leiden
?/. 4 c.376A>T r.(?) p.(Ile126Phe) - VUS g.35066741T>A g.35066744T>A - - VCP_000011 - - - - Unknown - - - 0 - Shiro Matsubara
?/. 4 c.383G>C r.(?) p.(Gly128Ala) - VUS g.35066734C>G g.35066737C>G - - VCP_000009 - - - - Unknown - - - 0 - Tom Winder
+?/. 4 c.383G>T r.(?) p.(Gly128Val) - likely pathogenic g.35066734C>A g.35066737C>A - - VCP_000013 - - - - Germline yes - - 0 - Gisela Nogales
+/+ 4 c.410C>T r.(?) p.(Pro137Leu) - pathogenic g.35066707G>A g.35066710G>A - - VCP_000024 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. - c.410C>T r.(?) p.(Pro137Leu) - pathogenic g.35066707G>A g.35066710G>A - - VCP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.411G>C r.(?) p.(Pro137=) - 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 - - - - - VKGL-NL_VUmc
-?/. - c.445+92dup r.(=) p.(=) - likely benign g.35066592dup g.35066595dup VCP(NM_007126.3):c.445+92dupT - VCP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.446-17A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.446-17A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
+/. 5 c.451A>G r.(?) p.(Ile151Val) - pathogenic g.35065373T>C g.35065376T>C - - VCP_000010 - - - - De novo - - - 0 - Robert Boland-Freitas
+/+ 5 c.(463C>A) r.(?) p.(Arg155Ser) - pathogenic g.35065361G>T g.35065364G>T - - VCP_000023 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(463C>T) r.(?) p.(Arg155Cys) - pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. 5 c.463C>T r.(?) p.(Arg155Cys) - 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 - Johan den Dunnen
+/. 5 c.463C>T r.(?) p.(Arg155Cys) - 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 - Johan den Dunnen
+?/. - c.463C>T r.(?) p.(Arg155Cys) - likely pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - Johan den Dunnen
+?/. 5 c.463C>T r.(?) p.(Arg155Cys) ACMG likely pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 ACMG PM1, PM2, PM5, PP3, PP4_mod PubMed: Cerino 2022 - - Germline - - - 0 - Johan den Dunnen
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(464G>C) r.(?) p.(Arg155Pro) - pathogenic g.35065360C>G g.35065363C>G - - VCP_000005 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Viassolo 2008, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.464G>A r.464g>a p.Arg155His - 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 - Johan den Dunnen
+/. - c.464G>A r.(?) p.(Arg155His) - 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 - VKGL-NL_Utrecht
+/. - c.464G>A r.(?) p.(Arg155His) - 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 - VKGL-NL_Nijmegen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 5 c.464G>C r.(?) p.(Arg155Pro) - pathogenic g.35065360C>G g.35065363C>G - - VCP_000005 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
?/? 5 c.464G>T r.(?) p.(Arg155Leu) - VUS g.35065360C>A g.35065363C>A - - VCP_000022 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(469G>C) r.(?) p.(Gly157Arg) - pathogenic g.35065355C>G g.35065358C>G - - VCP_000021 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(469G>C) r.(?) p.(Gly157Arg) - pathogenic g.35065355C>G g.35065358C>G - - VCP_000021 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(475C>T) r.(?) p.(Arg159Cys) - pathogenic g.35065349G>A g.35065352G>A - - VCP_000020 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(475C>T) r.(?) p.(Arg159Cys) - pathogenic g.35065349G>A g.35065352G>A - - VCP_000020 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. - c.475C>T r.(?) p.(Arg159Cys) - 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 - VKGL-NL_Nijmegen
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