Full data view for gene GNB1

Information The variants shown are described using the NM_002074.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.141G>A r.(?) p.(Thr47=) Unknown - likely benign g.1747257C>T - GNB1(NM_002074.5):c.141G>A (p.T47=) - GNB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141G>A r.(?) p.(Thr47=) Unknown - likely benign g.1747257C>T - GNB1(NM_002074.5):c.141G>A (p.T47=) - GNB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150A>C r.(?) p.(Thr50=) Unknown - likely benign g.1747248T>G - GNB1(NM_002074.5):c.150A>C (p.T50=) - GNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.154C>T r.(?) p.(Arg52Trp) Unknown - likely pathogenic g.1747244G>A - GNB1(NM_002074.4):c.154C>T (p.R52W) - GNB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>T r.(?) p.(=) Unknown - likely benign g.1747221G>A - GNB1(NM_002074.5):c.177C>T (p.Y59=) - GNB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.203+1G>A r.spl? p.? Unknown - likely pathogenic g.1747194C>T g.1815755C>T GNB1(NM_002074.5):c.203+1G>A - GNB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204-7C>A r.(=) p.(=) Unknown - likely benign g.1737984G>T - GNB1(NM_002074.5):c.204-7C>A - GNB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210C>T r.(?) p.(=) Unknown - likely benign g.1737971G>A - GNB1(NM_002074.5):c.210C>T (p.L70=) - GNB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.217G>A r.(?) p.(Ala73Thr) Unknown - likely pathogenic g.1737964C>T - - - GNB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.227A>G r.(?) p.(Asp76Gly) Unknown - pathogenic g.1737954T>C g.1806515T>C - - GNB1_000001 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Jewish-Ashkenazi >08y06m - - - 1 Johan den Dunnen
+/. 6 c.228T>G r.(?) p.(Asp76Glu) Unknown - pathogenic g.1737953A>C g.1806514A>C - - GNB1_000007 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >08y - - - 1 Johan den Dunnen
+/. 6 c.229G>A r.(?) p.(Gly77Ser) Unknown - pathogenic g.1737952C>T g.1806513C>T - - GNB1_000008 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States Mexican;Spanish;German >11y - - - 1 Johan den Dunnen
+?/. - c.229G>A r.(?) p.(Gly77Ser) Unknown - likely pathogenic g.1737952C>T - - - GNB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.230G>C r.(?) p.(Gly77Ala) Unknown - pathogenic g.1737951C>G g.1806512C>G - - GNB1_000015 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. 6 c.233A>G r.(?) p.(Lys78Arg) Unknown - pathogenic g.1737948T>C g.1806509T>C - - GNB1_000002 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Jewish-Ashkenazi;Jewish-Sephardic >00y13m - - - 1 Johan den Dunnen
+?/. - c.233A>G r.(?) p.(Lys78Arg) Unknown - likely pathogenic g.1737948T>C g.1806509T>C GNB1(NM_002074.5):c.233A>G (p.K78R) - GNB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.239T>A r.(?) p.(Ile80Asn) Unknown - pathogenic g.1737942A>T g.1806503A>T - - GNB1_000003 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Jewish-Ashkenazi;Jewish-Sephardic >05y - - - 1 Johan den Dunnen
+/. 6 c.239T>A r.(?) p.(Ile80Asn) Unknown - pathogenic g.1737942A>T g.1806503A>T - - GNB1_000003 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >06y - - - 1 Johan den Dunnen
+/. 6 c.239T>C r.(?) p.(Ile80Thr) Unknown - pathogenic g.1737942A>G g.1806503A>G - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F - - Africa, north >04y - - - 1 Johan den Dunnen
+/. 6 c.239T>C r.(?) p.(Ile80Thr) Unknown - pathogenic g.1737942A>G g.1806503A>G - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >04y - - - 1 Johan den Dunnen
+/. 6 c.239T>C r.(?) p.(Ile80Thr) Unknown - pathogenic g.1737942A>G g.1806503A>G - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European 10y - - - 1 Johan den Dunnen
+/. - c.239T>C r.(?) p.(Ile80Thr) Unknown - pathogenic g.1737942A>G - GNB1(NM_002074.5):c.239T>C (p.I80T) - GNB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.239T>C r.(?) p.(Ile80Thr) Unknown ACMG pathogenic (dominant) g.1737942A>G - - - GNB1_000004 - - - - De novo yes - - - - DNA SEQ-NG blood WGS MRD iw071 - - F no China Chinese - - - - 1 Wenjuan Qiu
+/. - c.239T>C r.(?) p.(Ile80Thr) Unknown - pathogenic g.1737942A>G - GNB1(NM_002074.5):c.239T>C (p.I80T) - GNB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.267+2_267+4dup r.spl? p.? Unknown - VUS g.1737911_1737913dup - GNB1(NM_002074.5):c.267+2_267+4dup - GNB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.284T>C r.(?) p.(Leu95Pro) Unknown - pathogenic g.1736004A>G g.1804565A>G - - GNB1_000009 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - Hispanic >04y - - - 1 Johan den Dunnen
+/. - c.284T>C r.(?) p.(Leu95Pro) Unknown - pathogenic g.1736004A>G - - - GNB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.286C>T r.(?) p.(Arg96Cys) Unknown ACMG pathogenic g.1736002G>A g.1804563G>A - - GNB1_000038 - - ClinVar-1334942 rs2100699787 De novo - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. 7 c.298G>T r.(?) p.(Val100Phe) Unknown ACMG likely pathogenic (!) g.1735990C>A g.1804551C>A - - GNB1_000039 inherited from mother with anxious and depressive disorder - - - Germline - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 7 c.301A>G r.(?) p.(Met101Val) Unknown - pathogenic g.1735987T>C g.1804548T>C - - GNB1_000005 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European >19y - - - 1 Johan den Dunnen
+/. 7 c.301A>G r.(?) p.(Met101Val) Unknown - pathogenic g.1735987T>C g.1804548T>C - - GNB1_000005 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no United States European;Filipino >20y - - - 1 Johan den Dunnen
+/. - c.342_351del r.(?) p.(Cys114TrpfsTer10) Unknown - pathogenic g.1735945_1735954del - GNB1(NM_002074.4):c.342_351delCGGTGGCCTG (p.C114Wfs*10) - GNB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>A r.(?) p.(Gly115Ser) Unknown - VUS g.1735945C>T - GNB1(NM_002074.5):c.343G>A (p.G115S) - GNB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - likely pathogenic g.1735941C>T g.1804502C>T - - GNB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - likely pathogenic g.1735941C>T - - - GNB1_000018 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.347G>T r.(?) p.(Gly116Val) Unknown - likely pathogenic g.1735941C>A - - - GNB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.353A>G r.(?) p.(Asp118Gly) Unknown - likely pathogenic g.1735935T>C g.1804496T>C GNB1(NM_002074.3):c.353A>G (p.(Asp118Gly)), GNB1(NM_002074.5):c.353A>G (p.D118G) - GNB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.353A>G r.(?) p.(Asp118Gly) Unknown - pathogenic g.1735935T>C - GNB1(NM_002074.3):c.353A>G (p.(Asp118Gly)), GNB1(NM_002074.5):c.353A>G (p.D118G) - GNB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>A r.(?) p.(Arg129His) Unknown ACMG VUS g.1735902C>T g.1804463C>T - - GNB1_000032 ACMG: PS2_SUP, PM2_SUP, PP2 - VCV002477976.1 - De novo - - - - - DNA SEQ-NG-I Blood - MRD42 268932 - - F no Armenia - - - - - 1 Andreas Laner
+?/. - c.433_439del r.(?) p.(Tyr145ProfsTer42) Unknown - likely pathogenic g.1724744_1724750del g.1793305_1793311del GNB1(NM_002074.4):c.433_439delTACCTGT (p.Y145Pfs*42) - GNB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.495G>A r.(?) p.(Thr165=) Unknown - benign g.1724686C>T - GNB1(NM_002074.5):c.495G>A (p.T165=) - GNB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.497+1G>T r.spl? p.? Unknown - VUS g.1724683C>A g.1793244C>A - - GNB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497+16G>A r.(=) p.(=) Unknown - likely benign g.1724668C>T - GNB1(NM_002074.5):c.497+16G>A - GNB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.640C>T r.(?) p.(Arg214Ter) Unknown - likely pathogenic g.1721893G>A - GNB1(NM_002074.5):c.640C>T (p.R214*) - GNB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705T>C r.(?) p.(=) Unknown - likely benign g.1720703A>G - GNB1(NM_002074.5):c.705T>C (p.F235=) - GNB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738C>T r.(?) p.(Asp246=) Unknown - likely benign g.1720670G>A - GNB1(NM_002074.5):c.738C>T (p.D246=) - GNB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833_835del r.(?) p.(Phe278del) Unknown - VUS g.1720575_1720577del g.1789136_1789138del - - GNB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A r.(?) p.(Gly282Arg) Unknown - VUS g.1720564C>T - GNB1(NM_002074.5):c.844G>A (p.G282R) - GNB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878A>C r.(?) p.(Asn293Thr) Unknown - VUS g.1720530T>G - - - GNB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900C>T r.(?) p.(Leu300=) Unknown - likely benign g.1720508G>A - GNB1(NM_002074.5):c.900C>T (p.L300=) - GNB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.976G>A r.(?) p.(Ala326Thr) Unknown - pathogenic g.1718817C>T g.1787378C>T - - GNB1_000006 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - - De novo - 1/5855 cases - - - DNA SEQ, SEQ-NG - - DD - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - European >17y - - - 1 Johan den Dunnen
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