Full data view for gene VIM

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_003380.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.15del r.(?) p.(Val6CysfsTer26) Unknown - likely pathogenic (dominant) g.17271436del g.17229437del - - VIM_000015 parental samples unavailable PubMed: Ma 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam25PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents M - Australia - - - - - 1 Johan den Dunnen
+/. 2 c.451G>A r.(?) p.(Glu151Lys) Maternal (confirmed) - pathogenic g.17271872G>A g.17229873G>A 596G>A - VIM_000001 not in 384 control chromosomes; located in coil 1B PubMed: Müller 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT - - 45y female patient F - - DE - - - - 1 Ivo F.A.C. Fokkema
+/. 2 c.451G>A r.(?) p.(Glu151Lys) Unknown - pathogenic g.17271872G>A g.17229873G>A - - VIM_000001 expression cloning, forms aberrant vimentin cytoskeleton, increased proteasome activity; severe kinetic defect vimentin assembly (in vitro/in vivo) PubMed: Müller 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - no (pedigree) - 1 Stefan Aretz
?/. - c.498C>G r.(?) p.(Asn166Lys) Unknown - VUS g.17271919C>G - VIM(NM_003380.4):c.498C>G (p.N166K) - VIM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551G>A r.(?) p.(Arg184His) Unknown - VUS g.17271972G>A - - - VIM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553C>G r.(?) p.(Leu185Val) Unknown - VUS g.17271974C>G g.17229975C>G VIM(NM_003380.4):c.553C>G (p.L185V) - VIM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.623A>G r.(?) p.(Gln208Arg) Paternal (confirmed) - pathogenic (dominant) g.17272708A>G g.17230709A>G - - VIM_000014 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam14 PubMed: Zhai 2017 4-generation family, 3 affected (3M) M - China - - - - - 3 Johan den Dunnen
?/. 4 c.635A>G r.(?) p.(Asn212Ser) Maternal (confirmed) - VUS g.17275596A>G g.17233597A>G - - VIM_000017 - PubMed: Liu 2023 rs116800063 rs116800063 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam105Pat286 PubMed: Liu 2023 2-generation family, affected mother/daughter F - China - - - - - 2 Johan den Dunnen
?/. 4 c.635A>G r.(?) p.(Asn212Ser) Unknown - VUS g.17275596A>G g.17233597A>G - - VIM_000017 - PubMed: Liu 2023 rs116800063 rs116800063 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam105Pat287 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
-?/. - c.774G>A r.(?) p.(Val258=) Unknown - likely benign g.17275822G>A g.17233823G>A VIM(NM_003380.4):c.774G>A (p.V258=) - VIM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987A>G r.(?) p.(Glu329=) Unknown - likely benign g.17276796A>G - VIM(NM_003380.4):c.987A>G (p.E329=) - VIM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1009-10C>T r.(=) p.(=) Unknown - likely benign g.17277158C>T g.17235159C>T VIM(NM_003380.4):c.1009-10C>T - VIM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1009-10C>T r.(=) p.(=) Parent #1 - benign g.17277158C>T g.17235159C>T - - VIM_000002 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79719081 Germline - 21/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
?/. - c.1025G>A r.(?) p.(Arg342His) Unknown - VUS g.17277184G>A g.17235185G>A VIM(NM_003380.4):c.1025G>A (p.R342H) - VIM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051T>G r.(?) p.(Phe351Val) Unknown - VUS g.17277210T>G - VIM(NM_003380.4):c.1051T>G (p.F351V) - VIM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1080C>G r.(?) p.(Asp360Glu) Unknown ACMG VUS g.17277239C>G g.17235240C>G VIM c.1080C>G p.(Asp360Glu) het - VIM_000013 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17004217 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1132C>T r.(?) p.(Arg378Cys) Parent #1 - VUS g.17277291C>T g.17235292C>T - - VIM_000016 VUS PM2, PP3 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CC0000553 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
-?/. - c.1273+6C>T r.(=) p.(=) Unknown - likely benign g.17277894C>T g.17235895C>T VIM(NM_003380.4):c.1273+6C>T - VIM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1274-10G>A r.(=) p.(=) Unknown - likely benign g.17278283G>A g.17236284G>A VIM(NM_003380.4):c.1274-10G>A - VIM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345del r.(?) p.(Thr449LeufsTer57) Unknown - VUS g.17278364del - VIM(NM_003380.5):c.1345delA (p.T449Lfs*57) - VIM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368C>T r.(?) p.(Asn456=) Unknown - likely benign g.17279237C>T g.17237238C>T VIM(NM_003380.4):c.1368C>T (p.N456=) - VIM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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