Unique variants in the GIPC3 gene

Information The variants shown are described using the NM_133261.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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     
-?/., -?/-? 2 1 c.69G>A r.(?), r.(=) p.(Ala23=), p.(=) - likely benign g.3585664G>A g.3585666G>A GIPC3(NM_133261.2):c.69G>A (p.A23=) - GIPC3_000013 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, Global Variome, with Curator vacancy
+/+ 1 1 c.122C>A r.(?) p.(Thr41Lys) - pathogenic g.3585717C>A g.3585719C>A - - GIPC3_000014 - MORL Deafness Variation Database, PubMed: Ramzan 2013, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 1 c.136G>A r.(?) p.(Gly46Arg) - pathogenic g.3585731G>A g.3585733G>A - - GIPC3_000015 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 1i c.226-1G>T r.spl? p.? - pathogenic g.3586492G>T g.3586494G>T - - GIPC3_000016 - MORL Deafness Variation Database, PubMed: Siddiqi 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.241C>T r.(?) p.(Leu81Phe) - pathogenic g.3586508C>T g.3586510C>T - - GIPC3_000017 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.245A>G r.(?) p.(Asn82Ser) - VUS g.3586512A>G g.3586514A>G - - GIPC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 2 c.264G>A r.(?) p.(Met88Ile) - pathogenic g.3586531G>A g.3586533G>A - - GIPC3_000018 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.279_295del r.(?) p.(Gln95Leufs*17) - pathogenic g.3586546_3586562del g.3586548_3586564del - - GIPC3_000019 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.281G>A r.(?) p.(Gly94Asp) - pathogenic g.3586548G>A g.3586550G>A - - GIPC3_000020 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.298G>A r.(?) p.(Asp100Asn) - VUS g.3586565G>A g.3586567G>A - - GIPC3_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.326A>G r.(?) p.(Glu109Gly) - VUS g.3586593A>G g.3586595A>G - - GIPC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.412-1G>T r.spl? p.? ACMG likely pathogenic g.3586811G>T g.3586813G>T - - GIPC3_000001 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-?/-? 1 3 c.440G>A r.(?) p.(Arg147Gln) - likely benign g.3586840G>A g.3586842G>A - - GIPC3_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/+? 1 3 c.508C>A r.(?) p.(His170Asn) - likely pathogenic g.3586908C>A g.3586910C>A - - GIPC3_000023 - MORL Deafness Variation Database, PubMed: Sirmaci 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 3 c.565C>T r.(?) p.(Arg189Cys) - pathogenic g.3586965C>T g.3586967C>T - - GIPC3_000024 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 1 3 c.576G>A r.(=) p.(=) - likely benign g.3586976G>A g.3586978G>A - - GIPC3_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 1 4 c.626G>A r.(?) p.(Cys209Tyr) - likely benign g.3589474G>A g.3589476G>A - - GIPC3_000026 - MORL Deafness Variation Database, PubMed: Shearer 2013, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.662C>T r.(?) p.(Thr221Ile) - pathogenic g.3589510C>T g.3589512C>T - - GIPC3_000027 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.667C>G r.(?) p.(Arg223Gly) - pathogenic g.3589515C>G g.3589517C>G - - GIPC3_000028 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.674G>A r.(?) p.(Arg225His) - VUS g.3589522G>A g.3589524G>A - - GIPC3_000029 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.685dup r.(?) p.(Ala229Glyfs*10) - pathogenic g.3589533dup g.3589535dup - - GIPC3_000030 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.706-9T>G r.(=) p.(=) - likely benign g.3589820T>G g.3589822T>G GIPC3(NM_133261.2):c.706-9T>G - GIPC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.767G>A r.(?) p.(Gly256Asp) - pathogenic g.3589890G>A g.3589892G>A - - GIPC3_000031 - MORL Deafness Variation Database, PubMed: Ain 2007, PubMed: Rehman 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 5 c.772C>T r.(?) p.(Arg258Trp) - pathogenic g.3589895C>T g.3589897C>T - - GIPC3_000032 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.773G>A r.(?) p.(Arg258Gln) - VUS g.3589896G>A g.3589898G>A GIPC3(NM_133261.2):c.773G>A (p.R258Q) - GIPC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.785T>G r.(?) p.(Leu262Arg) - pathogenic g.3589908T>G g.3589910T>G - - GIPC3_000033 - MORL Deafness Variation Database, PubMed: Chen 1997, PubMed: Charizopoulou 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.788-9G>A r.(=) p.(=) - VUS g.3590028G>A g.3590030G>A GIPC3(NM_133261.2):c.788-9G>A - GIPC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 6 c.812del r.(?) p.(Gly271Valfs*47) - pathogenic g.3590061del g.3590063del - - GIPC3_000034 - MORL Deafness Variation Database - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/., +?/. 2 - c.838G>C r.(?) p.(Ala280Pro) - VUS, likely pathogenic g.3590087G>C g.3590089G>C GIPC3(NM_133261.2):c.838G>C (p.A280P) - GIPC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/., -/- 2 6 c.856G>A r.(?) p.(Val286Ile) - likely benign, benign g.3590105G>A g.3590107G>A GIPC3(NM_133261.2):c.856G>A (p.V286I) - GIPC3_000005 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, Global Variome, with Curator vacancy
?/. 1 - c.871G>A r.(?) p.(Ala291Thr) - VUS g.3590120G>A g.3590122G>A - - GIPC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 6 c.875T>C r.(?) p.(Phe292Ser) - VUS g.3590124T>C g.3590126T>C - - GIPC3_000035 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 6 c.903G>A r.(?) p.(Trp301*) - pathogenic g.3590152G>A g.3590154G>A - - GIPC3_000036 - MORL Deafness Variation Database, PubMed: Charizopoulou 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.923G>C r.(?) p.(Arg308Thr) - likely benign g.3590172G>C g.3590174G>C GIPC3(NM_133261.2):c.923G>C (p.R308T) - GIPC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*4905dup r.(?) p.(=) - benign g.3595093dup g.3595095dup TBXA2R(NM_001060.5):c.*609dupT - GIPC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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