Full data view for gene GIPC3

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

48 entries on 1 page. Showing entries 1 - 48.
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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.69G>A r.(?) p.(Ala23=) Unknown - likely benign g.3585664G>A g.3585666G>A GIPC3(NM_133261.2):c.69G>A (p.A23=) - GIPC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.69G>A r.(=) p.(=) Parent #1 - likely benign g.3585664G>A g.3585666G>A - - GIPC3_000013 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.122C>A r.(?) p.(Thr41Lys) Parent #1 - pathogenic g.3585717C>A g.3585719C>A - - GIPC3_000014 - MORL Deafness Variation Database, PubMed: Ramzan 2013, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Ramzan 2013, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.134A>C r.(?) p.(His45Pro) Unknown - VUS g.3585729A>C - - - GIPC3_000037 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.136G>A r.(?) p.(Gly46Arg) Parent #1 - pathogenic g.3585731G>A g.3585733G>A - - GIPC3_000015 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Rehman 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.217_225+1del r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.3585812_3585821del g.3585814_3585823del 216_225del - GIPC3_000038 - PubMed: Wonkam 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG-I Blood WES DFNB15 Fam30 PubMed: Wonkam 2022 3-generation family, 3 affected (2F, 1M) F no Ghana Africa - - - - 3 Yacouba Dia
+/+ 1i c.226-1G>T r.spl? p.? Parent #1 - pathogenic g.3586492G>T g.3586494G>T - - GIPC3_000016 - MORL Deafness Variation Database, PubMed: Siddiqi 2014 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Siddiqi 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.241C>T r.(?) p.(Leu81Phe) Parent #1 - pathogenic g.3586508C>T g.3586510C>T - - GIPC3_000017 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.241C>T r.(?) p.(Leu81Phe) Both (homozygous) ACMG pathogenic (recessive) g.3586508C>T g.3586510C>T - - GIPC3_000017 - PubMed: Wonkam 2022 - rs1487341857 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood WES DFNB15 Fam10 PubMed: Wonkam 2022 3 generation family, 2 affected sisters F no Ghana Africa - - - - 2 Yacouba Dia
+/. - c.241C>T r.(?) p.(Leu81Phe) Both (homozygous) ACMG pathogenic (recessive) g.3586508C>T g.3586510C>T - - GIPC3_000017 unaffected heterozygous mother, one unaffected sister is homozygous for the pathogenic variant, father was no screened. PubMed: Wonkam 2022 - rs1487341857 Germline - - - - - DNA SEQ, SEQ-NG-I Blood WES DFNB15 Fam31 PubMed: Wonkam 2022 3-generation family, 2 affected (1M, 1F), unaffected carrier mother, unaffected homozygous sister M no Ghana Africa - - - - 2 Yacouba Dia
?/. - c.245A>G r.(?) p.(Asn82Ser) Unknown - VUS g.3586512A>G g.3586514A>G - - GIPC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.245A>G r.(?) p.(Asn82Ser) Both (homozygous) - likely pathogenic (recessive) g.3586512A>G g.3586514A>G - - GIPC3_000006 - Journal: Kannan-Sundhari 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 180-gene panel HL KF-15 Journal: Kannan-Sundhari 2020 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 2 Johan den Dunnen
+/+ 2 c.264G>A r.(?) p.(Met88Ile) Parent #1 - pathogenic g.3586531G>A g.3586533G>A - - GIPC3_000018 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Rehman 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.279_295del r.(?) p.(Gln95Leufs*17) Parent #1 - pathogenic g.3586546_3586562del g.3586548_3586564del - - GIPC3_000019 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.281G>A r.(?) p.(Gly94Asp) Parent #1 - pathogenic g.3586548G>A g.3586550G>A - - GIPC3_000020 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Rehman 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 2 c.298G>A r.(?) p.(Asp100Asn) Parent #1 - VUS g.3586565G>A g.3586567G>A - - GIPC3_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.326A>G r.(?) p.(Glu109Gly) Unknown - VUS g.3586593A>G g.3586595A>G - - GIPC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.412-1G>T r.spl? p.? Both (homozygous) ACMG likely pathogenic g.3586811G>T g.3586813G>T - - GIPC3_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DFNB15 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-?/-? 3 c.440G>A r.(?) p.(Arg147Gln) Parent #1 - likely benign g.3586840G>A g.3586842G>A - - GIPC3_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.440G>A r.(?) p.(Arg147Gln) Unknown - VUS g.3586840G>A - GIPC3(NM_133261.2):c.440G>A (p.R147Q) - GIPC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.508C>A r.(?) p.(His170Asn) Parent #1 - likely pathogenic g.3586908C>A g.3586910C>A - - GIPC3_000023 - MORL Deafness Variation Database, PubMed: Sirmaci 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Sirmaci 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.565C>T r.(?) p.(Arg189Cys) Parent #1 - pathogenic g.3586965C>T g.3586967C>T - - GIPC3_000024 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Rehman 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 3 c.576G>A r.(=) p.(=) Parent #1 - likely benign g.3586976G>A g.3586978G>A - - GIPC3_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.626G>A r.(?) p.(Cys209Tyr) Parent #1 - likely benign g.3589474G>A g.3589476G>A - - GIPC3_000026 - MORL Deafness Variation Database, PubMed: Shearer 2013, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Shearer 2013, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 4 c.662C>T r.(?) p.(Thr221Ile) Both (homozygous) - pathogenic (recessive) g.3589510C>T g.3589512C>T - - GIPC3_000027 - PubMed: Rehman 2011 - - Germline - - - - - DNA ? - - HL HLAI-11 PubMed: Rehman 2011, PubMed: Naz 2017 family, 6 affected - - - - - - - - 6 Global Variome, with Curator vacancy
+/. - c.662C>T r.(?) p.(Thr221Ile) Both (homozygous) - pathogenic (recessive) g.3589510C>T g.3589512C>T - - GIPC3_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF969 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.662C>T r.(?) p.(Thr221Ile) Both (homozygous) - pathogenic (recessive) g.3589510C>T g.3589512C>T - - GIPC3_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1442 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.662C>T r.(?) p.(Thr221Ile) Both (homozygous) - pathogenic (recessive) g.3589510C>T g.3589512C>T - - GIPC3_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1573 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 4 c.667C>G r.(?) p.(Arg223Gly) Parent #1 - pathogenic g.3589515C>G g.3589517C>G - - GIPC3_000028 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.674G>A r.(?) p.(Arg225His) Parent #1 - VUS g.3589522G>A g.3589524G>A - - GIPC3_000029 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.685dup r.(?) p.(Ala229Glyfs*10) Parent #1 - pathogenic g.3589533dup g.3589535dup - - GIPC3_000030 - MORL Deafness Variation Database, PubMed: Rehman 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Rehman 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.706-9T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.764T>A r.(?) p.(Met255Lys) Both (homozygous) - pathogenic (recessive) g.3589887T>A g.3589889T>A - - GIPC3_000039 - PubMed: Ammar-Khodja 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL Fam4 PubMed: Ammar-Khodja 2015 5-generation family, 2 affected sisters, unaffected heterozygous parents/relatives F;M yes Algeria - - - - - 2 Johan den Dunnen
+/+ 5 c.767G>A r.(?) p.(Gly256Asp) Parent #1 - pathogenic g.3589890G>A g.3589892G>A - - GIPC3_000031 - MORL Deafness Variation Database, PubMed: Ain 2007, PubMed: Rehman 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Ain 2007, PubMed: Rehman 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.772C>T r.(?) p.(Arg258Trp) Parent #1 - pathogenic g.3589895C>T g.3589897C>T - - GIPC3_000032 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.773G>A r.(?) p.(Arg258Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.785T>G r.(?) p.(Leu262Arg) Parent #1 - pathogenic g.3589908T>G g.3589910T>G - - GIPC3_000033 - MORL Deafness Variation Database, PubMed: Chen 1997, PubMed: Charizopoulou 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Chen 1997, PubMed: Charizopoulou 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.788-9G>A r.(=) p.(=) Unknown - VUS g.3590028G>A g.3590030G>A GIPC3(NM_133261.2):c.788-9G>A - GIPC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.812del r.(?) p.(Gly271Valfs*47) Parent #1 - pathogenic g.3590061del g.3590063del - - GIPC3_000034 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.838G>C r.(?) p.(Ala280Pro) Unknown - VUS g.3590087G>C g.3590089G>C GIPC3(NM_133261.2):c.838G>C (p.A280P) - GIPC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.838G>C r.(?) p.(Ala280Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.856G>A r.(?) p.(Val286Ile) Unknown - likely benign g.3590105G>A g.3590107G>A GIPC3(NM_133261.2):c.856G>A (p.V286I) - GIPC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6 c.856G>A r.(?) p.(Val286Ile) Parent #1 - benign g.3590105G>A g.3590107G>A - - GIPC3_000005 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.871G>A r.(?) p.(Ala291Thr) Unknown - VUS g.3590120G>A g.3590122G>A - - GIPC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.875T>C r.(?) p.(Phe292Ser) Parent #1 - VUS g.3590124T>C g.3590126T>C - - GIPC3_000035 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 6 c.903G>A r.(?) p.(Trp301*) Parent #1 - pathogenic g.3590152G>A g.3590154G>A - - GIPC3_000036 - MORL Deafness Variation Database, PubMed: Charizopoulou 2011 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Charizopoulou 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.903G>A r.(?) p.(Trp301*) Unknown - pathogenic g.3590152G>A - - - GIPC3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.923G>C r.(?) p.(Arg308Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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