Unique 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.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Reported     

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     
-?/. 1 - 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
-/. 2 - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/. 2 - 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_Utrecht, VKGL-NL_VUmc
-/., -?/. 2 - c.-3619C>T r.(?) p.(=) - benign, likely 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 - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.-2672G>A r.(?) p.(=) - benign, 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, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.18-5T>C r.spl? p.? - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
+?/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/+, +/., +?/. 5 3 c.(277C>T), c.277C>T r.(?) p.(Arg93Cys) ACMG likely pathogenic, pathogenic, pathogenic (dominant) g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution, 1 more item PubMed: Evilä 2016 - - Germline, Unknown no, yes - - - - Johan den Dunnen, Andreas Laner, Marc Cruts
+?/?, ?/. 2 3 c.278G>A r.(?) p.(Arg93His) - likely pathogenic, VUS g.35067912C>T g.35067915C>T - - VCP_000012 de novo occurrence testing, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo ? - - - - Marcel Nelen, VKGL-NL_Nijmegen
+/+, +/. 3 3 c.(283C>G), c.283C>G r.(?), r.283c>g p.(Arg95Gly), p.Arg95Gly - NA, pathogenic g.35067907G>C g.35067910G>C - - VCP_000004 not in >180 control chromosomes, 2 more items PubMed: Watts 2004, OMIM:var0004, PubMed: Weihl 2006, OMIM:var0004 - - Germline, In vitro (cloned), Unknown yes - RsaI- - - Johan den Dunnen, Marc Cruts
+/+ 1 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 - - - - Marc Cruts
?/? 3 3 c.(284G>A) r.(?) p.(Arg95His) - VUS g.35067906C>T g.35067909C>T - - VCP_000025 1 more item - - - Unknown no - - - - Marc Cruts
-?/., ?/. 5 - c.340A>G r.(?) p.(Ile114Val) - likely benign, 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_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 4 c.376A>T r.(?) p.(Ile126Phe) - VUS g.35066741T>A g.35066744T>A - - VCP_000011 - - - - Unknown - - - - - Shiro Matsubara
?/. 1 4 c.383G>C r.(?) p.(Gly128Ala) - VUS g.35066734C>G g.35066737C>G - - VCP_000009 - - - - Unknown - - - - - Tom Winder
+?/. 1 4 c.383G>T r.(?) p.(Gly128Val) - likely pathogenic g.35066734C>A g.35066737C>A - - VCP_000013 - - - - Germline yes - - - - Gisela Nogales
+/+, +/. 2 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, 1 more item - - - CLASSIFICATION record, Unknown no - - - - VKGL-NL_Nijmegen, Marc Cruts
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_AMC
+/. 1 5 c.451A>G r.(?) p.(Ile151Val) - pathogenic g.35065373T>C g.35065376T>C - - VCP_000010 - - - - De novo - - - - - Robert Boland-Freitas
+/+ 1 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 - - - - Marc Cruts
+/+, +/., +?/. 15 5 c.(463C>T), c.463C>T r.(?) p.(Arg155Cys) ACMG likely pathogenic, pathogenic g.35065361G>A g.35065364G>A - - VCP_000002 ACMG PM1, PM2, PM5, PP3, PP4_mod, mapped by linkage, haplogroup-B; not in >180 control chromosomes, 1 more item PubMed: Cerino 2022, PubMed: Park 2017, PubMed: Watts 2004, OMIM:var0002 - - Germline, Unknown no, yes 1/209 cases - - - Johan den Dunnen, Marc Cruts
+/+, +/. 24 5 c.(464G>A), c.464G>A r.(?), r.464g>a p.(Arg155His), p.Arg155His - NA, pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.R155H) - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes, no second variant, 4 more items PubMed: Nallamilli 2018, PubMed: Thomas 2022, PubMed: Viassolo 2008, OMIM:var0001, 2 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested), In vitro (cloned), Unknown no, yes - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Marc Cruts
+/+, +/. 2 5 c.(464G>C), c.464G>C r.(?) p.(Arg155Pro) - pathogenic g.35065360C>G g.35065363C>G - - VCP_000005 not in >180 control chromosomes, 1 more item PubMed: Watts 2004, OMIM:var0005 - - Germline, Unknown yes - - - - Johan den Dunnen, Marc Cruts
?/? 1 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 - - - - Marc Cruts
+/+ 2 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, yes - - - - Marc Cruts
+/+, +/. 4 5 c.(475C>T), c.475C>T r.(?) p.(Arg159Cys) - pathogenic g.35065349G>A g.35065352G>A VCP(NM_007126.3):c.475C>T (p.R159C) - VCP_000020 Point mutation in coding region predicting an amino acid substitution, 1 more item - - - CLASSIFICATION record, Unknown no - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Marc Cruts
+/+, +/., +?/. 11 5 c.(476G>A), c.476G>A r.(?) p.(Arg159His) - likely pathogenic, pathogenic g.35065348C>T g.35065351C>T 688G>A, VCP(NM_007126.3):c.476G>A (p.R159H) - VCP_000008 combination of variants not reported, not in 314 control chromosomes, not in 384 control chromosomes, 2 more items PubMed: Haubenberger 2005, PubMed: van der Zee 2009, OMIM:var0007, PubMed: Nallamilli 2018, 2 more items - - CLASSIFICATION record, Germline, Unknown no, yes 2/1001 cases - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Marc Cruts
+/+, +/. 8 5 c.(572G>A), c.572G>A r.(?) p.(Arg191Gln) - pathogenic, pathogenic (dominant) g.35065252C>T g.35065255C>T - - VCP_000006 not in >180 control chromosomes, 1 more item PubMed: Nallamilli 2018, PubMed: Reddy 2017, PubMed: Watts 2004, OMIM:var0006 - rs121909334 Germline, Unknown no, yes - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder, Marc Cruts
-?/. 1 - c.577-13C>A r.(=) p.(=) - likely benign g.35064295G>T - VCP(NM_001354928.1):c.442-13C>A - VCP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 6 c.593T>G r.(?) p.(Leu198Trp) - pathogenic g.35064266A>C g.35064269A>C - - VCP_000019 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - Marc Cruts
+/., ?/. 2 6 c.648A>G r.(?) p.(Ile216Met) ACMG VUS g.35064211T>C - - - VCP_000078 ACMG PM2, PP3, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - JA Bevilacqua
+/+, +/. 2 6 c.(695C>A), c.695C>A r.(?) p.(Ala232Glu) - pathogenic g.35064164G>T g.35064167G>T - - VCP_000003 not in >180 control chromosomes, 1 more item PubMed: Watts 2004, OMIM:var0003 - - Germline, Unknown yes - MfeI- - - Johan den Dunnen, Marc Cruts
-?/. 1 - c.708+16T>G r.(=) p.(=) - likely benign g.35064135A>C g.35064138A>C VCP(NM_007126.3):c.708+16T>G - VCP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.767G>T r.(?) p.(Arg256Leu) - VUS g.35063019C>A - - - VCP_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +?/. 4 7 c.(784A>G), c.784A>G r.(?) p.(Thr262Ala) - likely pathogenic, pathogenic g.35063002T>C g.35063005T>C - - VCP_000018 Point mutation in coding region predicting an amino acid substitution PubMed: Gonzalez-Quereda 2020 - rs1554668598 CLASSIFICATION record, Germline, Unknown no - - - - Johan den Dunnen, Marc Cruts, MobiDetails
?/. 1 - c.785C>G r.(?) p.(Thr262Ser) - VUS g.35063001G>C g.35063004G>C - - VCP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 6 - c.811+3G>A r.spl? p.? - benign g.35062972C>T g.35062975C>T VCP(NM_007126.3):c.811+3G>A - VCP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.832T>C r.(?) p.(Leu278=) - likely benign g.35062327A>G g.35062330A>G VCP(NM_007126.3):c.832T>C (p.L278=) - VCP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.982T>C r.(?) p.(Leu328=) - likely benign g.35062099A>G g.35062102A>G VCP(NM_007126.3):c.982T>C (p.L328=) - VCP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1081+17C>T r.(=) p.(=) - benign, likely benign g.35061983G>A g.35061986G>A VCP(NM_001354928.1):c.946+17C>T, VCP(NM_007126.3):c.1081+17C>T - VCP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 4 - c.1082-18_1082-8dup r.(=) p.(=) - benign g.35061697_35061707dup g.35061700_35061710dup VCP(NM_007126.3):c.1082-18_1082-8dupTTGTGTACTGT - VCP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.1082-15_1082-14insATACTGTTTGT r.(=) p.(=) - likely benign g.35061707_35061708insGTATACAAACA g.35061710_35061711insGTATACAAACA VCP(NM_007126.3):c.1082-15_1082-14insATACTGTTTGT - VCP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.1082-9G>T r.(=) p.(=) - likely benign g.35061695C>A g.35061698C>A VCP(NM_007126.3):c.1082-9G>T - VCP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 3 - c.1092C>T r.(?) p.(Asp364=) - benign, likely benign g.35061676G>A g.35061679G>A VCP(NM_007126.3):c.1092C>T (p.D364=) - VCP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1106T>C r.(?) p.(Ile369Thr) ACMG VUS (!) g.35061662A>G - - - VCP_000075 ACMG: PM2_SUP, PP1, PP2, PP3; co-segregation in similar affected brother - - - Germline yes - - - - Andreas Laner
+/+ 1 10 c.(1159A>C) r.(?) p.(Asn387His) - pathogenic g.35061609T>G g.35061612T>G - - VCP_000017 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
-?/. 1 - c.1179T>C r.(?) p.(Asp393=) - likely benign g.35061589A>G g.35061592A>G VCP(NM_007126.3):c.1179T>C (p.D393=) - VCP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1195-15G>C r.(=) p.(=) - likely benign g.35061191C>G g.35061194C>G VCP(NM_007126.3):c.1195-15G>C - VCP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/., ?/. 3 - c.1202A>G r.(?) p.(Asn401Ser) - likely pathogenic, VUS g.35061169T>C g.35061172T>C VCP(NM_001354928.1):c.1067A>G (p.N356S), VCP(NM_007126.3):c.1202A>G (p.N401S) - VCP_000037 VKGL data sharing initiative Nederland PubMed: Gonzalez-Quereda 2020 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.1242G>A r.(?) p.(Leu414=) - likely benign g.35061129C>T g.35061132C>T VCP(NM_007126.3):c.1242G>A (p.L414=) - VCP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1264G>A r.(?) p.(Ala422Thr) - likely benign g.35061107C>T g.35061110C>T VCP(NM_007126.3):c.1264G>A (p.A422T) - VCP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 11 c.(1315G>C) r.(?) p.(Ala439Pro) - pathogenic g.35061056C>G g.35061059C>G - - VCP_000016 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
+/+ 1 11 c.(1315G>T) r.(?) p.(Ala439Ser) - pathogenic g.35061056C>A g.35061059C>A - - VCP_000015 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
?/. 1 - c.1318G>A r.(?) p.(Glu440Lys) - VUS g.35061053C>T g.35061056C>T VCP(NM_001354928.1):c.1183G>A (p.E395K) - VCP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1360-14C>G r.(=) p.(=) - benign, likely benign g.35060934G>C g.35060937G>C VCP(NM_007126.3):c.1360-14C>G - VCP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1456A>G r.(?) p.(Lys486Glu) - VUS g.35060824T>C g.35060827T>C - - VCP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 12 c.1460G>A r.(?) p.(Arg487His) - pathogenic g.35060820C>T g.35060823C>T - - VCP_000014 - PubMed: Hirano 2015, Journal: Hirano 2015 - - Germline - - - - - Jamie Zeegers
-/., -?/. 4 - c.1584C>T r.(?) p.(Ala528=) - benign, likely benign g.35060421G>A g.35060424G>A VCP(NM_001354928.1):c.1449C>T (p.A483=), VCP(NM_007126.3):c.1584C>T (p.A528=) - VCP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 6 - c.1695+8A>G r.(=) p.(=) - benign g.35060302T>C g.35060305T>C VCP(NM_007126.3):c.1695+8A>G - VCP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1700G>A r.(?) p.(Arg567His) - VUS g.35059794C>T g.35059797C>T VCP(NM_007126.3):c.1700G>A (p.R567H) - VCP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 4 - c.1704A>G r.(?) p.(Gln568=) - benign, likely benign g.35059790T>C g.35059793T>C VCP(NM_001354928.1):c.1569A>G (p.Q523=), VCP(NM_007126.3):c.1704A>G (p.Q568=) - VCP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 14 c.1732G>C r.1732g>c p.Glu578Gln - NA g.35059762C>G g.35059765C>G - - VCP_000007 expression cloning no ATPase activity PubMed: Weihl 2006 - - In vitro (cloned) - - - - - Johan den Dunnen
-/. 1 - c.1847dup r.(?) p.(Asn616LysfsTer12) - benign g.35059655dup g.35059658dup VCP(NM_007126.3):c.1847dupA (p.N616Kfs*12) - VCP_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1887T>C r.(?) p.(Ile629=) - likely benign g.35059607A>G g.35059610A>G VCP(NM_007126.3):c.1887T>C (p.I629=) - VCP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.2109C>T r.(?) p.(Ile703=) - likely benign g.35059112G>A g.35059115G>A VCP(NM_007126.3):c.2109C>T (p.I703=) - VCP_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 15 c.2121T>G r.(?) p.(Ile707Met) - VUS g.35059100A>C g.35059103A>C - - VCP_000055 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.2132G>A r.(?) p.(Arg711Gln) - likely benign g.35059089C>T g.35059092C>T VCP(NM_007126.3):c.2132G>A (p.R711Q) - VCP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2160+8T>G r.(=) p.(=) - likely benign g.35059053A>C g.35059056A>C VCP(NM_007126.3):c.2160+8T>G - VCP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.2161-4A>G r.spl? p.? - likely benign g.35057531T>C - VCP(NM_001354928.1):c.2026-4A>G - VCP_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2190G>T r.(?) p.(Glu730Asp) ACMG VUS g.35057498C>A g.35057501C>A - - VCP_000071 - - - rs373800909 Germline - - - - - Andreas Laner
-?/. 1 - c.2214A>G r.(?) p.(Glu738=) - likely benign g.35057474T>C g.35057477T>C VCP(NM_007126.3):c.2214A>G (p.E738=) - VCP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2397C>G r.(?) p.(Asp799Glu) - VUS g.35057138G>C - VCP(NM_001354928.1):c.2262C>G (p.D754E) - VCP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.2406T>C r.(?) p.(Asp802=) - likely benign g.35057129A>G g.35057132A>G VCP(NM_007126.3):c.2406T>C (p.D802=) - VCP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 2 - c.*4G>T r.(=) p.(=) - likely benign g.35057110C>A g.35057113C>A VCP(NM_007126.3):c.*4G>T - VCP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.*12C>T r.(=) p.(=) - benign g.35057102G>A g.35057105G>A VCP(NM_007126.3):c.*12C>T - VCP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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