All variants in the LIMS2 gene

Information The variants shown are described using the NM_001136037.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
?/. 1 c.42del r.(?) p.(Ser15Profs*9) - VUS g.128431289del g.127673715del 41del - LIMS2_000009 - - - - Germline/De novo (untested) - - - - - Alicia Alonso-Jiménez
?/. - c.73_74dup r.(?) p.(Trp25CysfsTer90) - VUS g.128431256_128431257dup g.127673682_127673683dup LIMS2(NM_001136037.3):c.73_74dupTG (p.W25Cfs*90) - GPR17_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.78-6748A>G r.(=) p.(=) - VUS g.128421884T>C - LIMS2(NM_017980.5):c.79A>G (p.(Thr27Ala)) - GPR17_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.105C>T r.(?) p.(Ala35=) - likely benign g.128415109G>A - LIMS2(NM_001136037.3):c.105C>T (p.A35=) - GPR17_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.255C>T r.(?) p.(Tyr85=) - benign g.128412453G>A g.127654879G>A LIMS2(NM_001161403.3):c.189C>T (p.(Tyr63=)), LIMS2(NM_001161404.2):c.174C>T (p.Y58=) - LIMS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.255C>T r.(=) p.(=) - benign g.128412453G>A g.127654879G>A - - LIMS2_000007 62 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35765118 Germline - 62/2795 individuals - - - Mohammed Faruq
-?/. - c.255C>T r.(?) p.(Tyr85=) - likely benign g.128412453G>A - LIMS2(NM_001161403.3):c.189C>T (p.(Tyr63=)), LIMS2(NM_001161404.2):c.174C>T (p.Y58=) - LIMS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.337A>G r.(?) p.(Met113Val) - VUS g.128412086T>C g.127654512T>C LIMS2(NM_001161404.1):c.256A>G (p.M86V) - GPR17_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 5 c.342C>G r.(?) p.(Asn114Lys) - likely pathogenic g.128412081G>C g.127654507G>C - - LIMS2_000001 - PubMed: Chardon 2015, Journal: Chardon 2015, OMIM:var0001 - - Germline yes - - - - Johan den Dunnen
+?/. 5 c.356C>T r.(?) p.(Pro119Leu) - likely pathogenic g.128412067G>A g.127654493G>A - - LIMS2_000002 - PubMed: Chardon 2015, Journal: Chardon 2015, OMIM:var0001 - rs768056213 Germline yes - - - - Johan den Dunnen
-?/. - c.425+3172C>T r.(=) p.(=) - likely benign g.128408826G>A g.127651252G>A GPR17(NM_001161415.1):c.601G>A (p.(Val201Met)) - GPR17_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.425+4401C>T r.(=) p.(=) - likely benign g.128407597G>A - GPR17(NM_001161415.1):c.11G>A (p.(Arg4Gln)) - GPR17_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.451C>T r.(?) p.(Arg151Cys) - likely benign g.128400622G>A g.127643047G>A - - LIMS2_000010 24 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145123078 Germline - 24/2795 individuals - - - Mohammed Faruq
-?/. - c.451C>T r.(?) p.(Arg151Cys) - likely benign g.128400622G>A g.127643047G>A - - LIMS2_000010 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145123078 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.451C>T r.(?) p.(Arg151Cys) - likely benign g.128400622G>A - LIMS2(NM_001136037.2):c.451C>T (p.(Arg151Cys)) - LIMS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.465G>A r.(?) p.(Lys155=) - benign g.128400608C>T g.127643033C>T LIMS2(NM_001161404.2):c.384G>A (p.K128=) - LIMS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.490C>T r.(?) p.(Arg164Trp) - VUS g.128400583G>A g.127643008G>A LIMS2(NM_001161404.2):c.409C>T (p.R137W) - LIMS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.735_738del r.(?) p.(Cys246Profs*39) - VUS g.128398555_128398558del - LIMS2(NM_001161403.1):c.669_672delCTGT (p.(Cys224fs)) - GPR17_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.869-8C>G r.(=) p.(=) - benign g.128397728G>C g.127640153G>C LIMS2(NM_001161404.2):c.788-8C>G - LIMS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.893G>A r.(?) p.(Trp298*) - pathogenic g.128397696C>T - - - LIMS2_000011 - PubMed: Chakravorty 2020 - - Germline - - - - - Johan den Dunnen
-?/. - c.1030_1032del r.(?) p.(Lys344del) - likely benign g.128396920_128396922del g.127639345_127639347del LIMS2(NM_001161404.1):c.949_951delAAG (p.K317del) - GPR17_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 11 c.1034T>C r.(?) p.(Leu345Pro) - likely pathogenic g.128396914A>G g.127639339A>G - - LIMS2_000003 - PubMed: Chardon 2015, Journal: Chardon 2015, OMIM:var0002 - rs869025562 Germline yes - - - - Johan den Dunnen
?/. - c.*2974C>T r.(=) p.(=) - VUS g.128393882G>A - MYO7B(NM_001080527.1):c.6028G>A (p.(Ala2010Thr)) - GPR17_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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