Full data view for gene GNAI3

Information The variants shown are described using the NM_006496.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-4967G>A r.(?) p.(=) Unknown - likely benign g.110086376G>A - GPR61(NM_031936.4):c.732G>A (p.P244=) - GNAI3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4858G>T r.(?) p.(=) Unknown - VUS g.110086485G>T - GPR61(NM_031936.4):c.841G>T (p.(Gly281Trp)) - GNAI3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4402G>A r.(?) p.(=) Unknown - VUS g.110086941G>A - GPR61(NM_031936.4):c.1297G>A (p.D433N) - GNAI3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4C>T r.(?) p.(=) Unknown - likely benign g.110091339C>T - GNAI3(NM_006496.4):c.-4C>T - GNAI3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38T>C r.(?) p.(Val13Ala) Unknown - VUS g.110091380T>C - GNAI3(NM_006496.3):c.38T>C (p.(Val13Ala)) - GNAI3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.118G>C r.(spl?) p.(Gly40Arg) Maternal (confirmed) - pathogenic g.110091460G>C g.109548838G>C - - GNAI3_000001 reduced expression DLX5 (6-fold) and DLX6 (8-fold) in cultured mandibular osteoblasts; not in 10758 control chromosomes; probably recurent variant PubMed: Rieder 2012, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - ARCND1 - PubMed: Erlich 2000, PubMed: Rieder 2012 2-generation family, daugther (affected mother S012-P) F no - - - - - - 2 Johan den Dunnen
+/? 1 c.118G>C r.(spl?) p.(Gly40Arg) Unknown - pathogenic g.110091460G>C g.109548838G>C - - GNAI3_000001 - PubMed: Rieder 2012, OMIM:var0001 - - Unknown yes - - - - DNA SEQ - - ARCND1 - PubMed: Rieder 2012 2-generation family, affected mother of S011 F no - - - - - - 1 Johan den Dunnen
+/? 1 c.118G>C r.(spl?) p.(Gly40Arg) Paternal (confirmed) - pathogenic g.110091460G>C g.109548838G>C - - GNAI3_000001 not in 10758 control chromosomes; probably recurent variant PubMed: Rieder 2012, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ARCND1 - PubMed: Rieder 2012 2-generation family, affected daugther F no - - - - - - 2 Johan den Dunnen
+/? 1 c.118G>C r.(spl?) p.(Gly40Arg) Unknown - pathogenic g.110091460G>C g.109548838G>C - - GNAI3_000001 - PubMed: Rieder 2012, OMIM:var0001 - - Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Rieder 2012 2-generation family, unaffected carrier father S008 M no - - - - - - 1 Johan den Dunnen
+/. - c.133G>A r.(?) p.(Gly45Ser) Unknown - pathogenic (dominant) g.110116373G>A - - - GNAI3_000014 - - - - De novo - - - - - DNA ? - - ARCND - - - - - - - - - - - 1 Nancy Vegas
+?/. - c.134G>C r.(?) p.(Gly45Ala) Unknown - likely pathogenic g.110116374G>C g.109573752G>C - - GNAI3_000026 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+?/? 2 c.134G>T r.(?) p.(Gly45Val) Unknown - likely pathogenic g.110116374G>T g.109573752G>T - - GNAI3_000004 11/11 polymorphic microsatellites markers consistent with paternity Romanelli Tavares, submitted - - De novo yes - - - - DNA SEQ - - ARCND1 - PubMed: Propst 2013 - M no - - - - - - 1 Maria Rita Passos-Bueno
+?/. - c.136A>G r.(?) p.(Lys46Glu) Unknown - likely pathogenic (dominant) g.110116376A>G g.109573754A>G - - GNAI3_000017 - PubMed: Poli 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat82 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
+/. - c.140G>A r.(?) p.(Ser47Asn) Unknown - pathogenic (dominant) g.110116380G>A - - - GNAI3_000015 - - - - Germline - - - - - DNA SEQ-NG - - ARCND - - - - - - - - - - - 1 Nancy Vegas
+/? 2 c.141C>A r.(?) p.(Ser47Arg) Paternal (confirmed) - pathogenic g.110116381C>A g.109573759C>A - - GNAI3_000002 - PubMed: Gordon 2013, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - ARCND1 - PubMed: Gordon 2013 2-generation family, daugther and father (23315542-Pat7f) F no - - - - - - 2 Johan den Dunnen
+/? 2 c.141C>A r.(?) p.(Ser47Arg) Unknown - pathogenic g.110116381C>A g.109573759C>A - - GNAI3_000002 - PubMed: Gordon 2013, OMIM:var0002 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Gordon 2013 2-generation family, father and daugther (23315542-Pat7) M no - - - - - - 1 Johan den Dunnen
+?/? 2 c.143C>A r.(?) p.(Thr48Asn) Unknown - likely pathogenic g.110116383C>A g.109573761C>A - - GNAI3_000005 8/8 polymorphic microsatellites markers consistent with paternity Romanelli Tavares, submitted - - De novo yes - - - - DNA SEQ - - ARCND1 - - - M no - - - - - - 1 Maria Rita Passos-Bueno
-?/. - c.268C>T r.(?) p.(Arg90Trp) Unknown - likely benign g.110116624C>T - GNAI3(NM_006496.4):c.268C>T (p.(Arg90Trp)) - GNAI3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.446A>G r.(?) p.(Asn149Ser) Unknown - VUS g.110121968A>G - GNAI3(NM_006496.4):c.446A>G (p.(Asn149Ser)) - GNAI3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>G r.(?) p.(Pro169Ala) Unknown - VUS g.110125102C>G - GNAI3(NM_006496.4):c.505C>G (p.(Pro169Ala)) - GNAI3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509C>T r.(?) p.(Thr170Ile) Unknown - VUS g.110125106C>T - GNAI3(NM_006496.4):c.509C>T (p.(Thr170Ile), p.T170I) - GNAI3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509C>T r.(?) p.(Thr170Ile) Unknown - likely benign g.110125106C>T - GNAI3(NM_006496.4):c.509C>T (p.(Thr170Ile), p.T170I) - GNAI3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.605G>C r.(?) p.(Gly202Ala) Unknown - VUS g.110128852G>C g.109586230G>C - - GNAI3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679C>G r.(?) p.(Leu227Val) Unknown - VUS g.110128926C>G - GNAI3(NM_006496.3):c.679C>G (p.(Leu227Val)) - GNAI3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.790A>G r.(?) p.(Ile264Val) Unknown - likely benign g.110129420A>G - GNAI3(NM_006496.4):c.790A>G (p.I264V) - GNAI3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 7 c.805A>T r.(?) p.(Asn269Tyr) Paternal (confirmed) - likely pathogenic g.110129435A>T g.109586813A>T - - GNAI3_000003 not in 275 ethnically matched control Brazilian samples Romanelli Tavares, submitted - - Germline yes - - - - DNA SEQ - - ARCND1 - PubMed: Guion-Almeida 2002; PubMed: Masotti 2008 familial case; except for one non-penetrant individual the variant segregates with the ARCND1 phenotype - no Brazil - - - - - 3 Maria Rita Passos-Bueno
?/. - c.907A>G r.(?) p.(Ile303Val) Unknown - VUS g.110134697A>G - GNAI3(NM_006496.3):c.907A>G (p.(Ile303Val)) - GNAI3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986C>T r.(?) p.(Thr329Met) Unknown - VUS g.110134776C>T g.109592154C>T GNAI3(NM_006496.3):c.986C>T (p.(Thr329Met)) - GNAI3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987G>A r.(?) p.(Thr329=) Unknown - likely benign g.110134777G>A g.109592155G>A GNAI3(NM_006496.4):c.987G>A (p.T329=) - GNAI3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035A>G r.(?) p.(Lys345=) Unknown - likely benign g.110134825A>G g.109592203A>G GNAI3(NM_006496.4):c.1035A>G (p.K345=) - GNAI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*22G>A r.(=) p.(=) Unknown - likely benign g.110134877G>A - GNAI3(NM_006496.4):c.*22G>A - GNAI3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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