All variants in the LIM2 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_030657.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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.57G>A r.(?) p.(Leu19=) - likely benign g.51890641C>T - LIM2(NM_030657.3):c.57G>A (p.L19=) - LIM2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.163A>G r.(?) p.(Thr55Ala) - VUS g.51890535T>C g.51387281T>C LIM2(NM_030657.3):c.163A>G (p.T55A) - LIM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.186C>T r.(?) p.(Pro62=) - benign g.51890512G>A g.51387258G>A LIM2(NM_030657.3):c.186C>T (p.P62=) - LIM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.218G>A r.(?) p.(Ser73Asn) - VUS g.51890480C>T - LIM2(NM_030657.3):c.218G>A (p.S73N) - LIM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.225G>A r.(?) p.(Ala75=) - likely benign g.51890473C>T g.51387219C>T LIM2(NM_030657.3):c.225G>A (p.A75=) - LIM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.348C>T r.(?) p.(Cys116=) - likely benign g.51885775G>A g.51382521G>A LIM2(NM_030657.3):c.348C>T (p.C116=) - LIM2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.372C>T r.(?) p.(Gly124=) - VUS g.51885751G>A g.51382497G>A LIM2(NM_030657.3):c.372C>T (p.G124=) - LIM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.406C>T r.(?) p.(Arg136Cys) - VUS g.51885717G>A g.51382463G>A LIM2(NM_030657.3):c.406C>T (p.R136C) - LIM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.445del r.(?) p.(Ser149Profs*43) - VUS g.51885684del - LIM2(NM_030657.3):c.445delT (p.S149Pfs*43) - LIM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.463G>A r.(?) p.(Val155Met) - benign g.51883882C>T g.51380628C>T LIM2(NM_030657.3):c.463G>A (p.V155M) - LIM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.463G>C r.(?) p.(Val155Leu) - likely benign g.51883882C>G g.51380628C>G LIM2(NM_030657.3):c.463G>C (p.V155L) - LIM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.483C>T r.(?) p.(Tyr161=) - likely benign g.51883862G>A g.51380608G>A LIM2(NM_030657.3):c.483C>T (p.Y161=) - LIM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.587-10_587-8del r.(=) p.(=) - VUS g.51883529_51883531del g.51380275_51380277del LIM2(NM_030657.3):c.587-10_587-8delTCT - LIM2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.626G>A r.(?) p.(Arg209Gln) - VUS g.51883477C>T g.51380223C>T LIM2(NM_030657.3):c.626G>A (p.R209Q) - LIM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query