Full data view for gene GNB5

Information The variants shown are described using the NM_016194.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.52476873T>C g.52184676T>C GNB5(NM_016194.3):c.1A>G (p.M1?) - GNB5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3i c.(126+1_127-1)_(238+1_239-1)del r.? p.? Both (homozygous) ACMG likely pathogenic g.(52446274_52471964)_(52472077_52476747)del g.(52154077_52179767)_(52179880_52184550)del del ex3 - GNB5_000010 ACMG PVS1,PM2 PubMed: Chuan 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat7 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.238+1G>C r.spl? p.? Unknown - likely pathogenic g.52471964C>G g.52179767C>G GNB5(NM_016194.3):c.238+1G>C - GNB5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.238+1G>C r.[238_239insCTGA,=] p.[Leu79ProfsTer39,=] Unknown - pathogenic g.52471964C>G g.52179767C>G NM_006578.3:c.112+1G>C - GNB5_000005 effect on RNA inclusion of intron sequences - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+/. - c.262del r.(?) p.(Glu88ArgfsTer8) Both (homozygous) - pathogenic (recessive) g.52446251del g.52154054del NM_006578.3:c.136delG - GNB5_000020 - PubMed: Poke 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Poke 2019 4-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Cambodia - - - - - 1 Johan den Dunnen
+/. - c.348_352del r.(?) p.(Asp116Glufs*52) Paternal (confirmed) - pathogenic (recessive) g.52446164_52446168del g.52153967_52153971del NM_006578.3:c.222_226delTAAGA - GNB5_000011 - PubMed: Malerba 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? patient PubMed: Malerba 2018 2-generation family, 1 affected, unaffected heterozygous parents F no Italy - - - - - 1 Johan den Dunnen
+/. - c.348_352del r.(?) p.(Asp116Glufs*52) Maternal (confirmed) - pathogenic (recessive) g.52446164_52446168del g.52153967_52153971del NM_006578.3:c.222_226delTAAGA - GNB5_000011 - PubMed: Vernon 2018 - - Germline - - - - - DNA SEQ - - ID patient PubMed: Vernon 2018 2-generation family, 1 affected, unaffected heterozygous parents M no - white - - - - 1 Johan den Dunnen
?/. - c.361G>A r.(?) p.(Val121Met) Parent #1 - VUS g.52446151C>T - - - GNB5_000009 - PubMed: Olivier 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP FamA PubMed: Olivier 2021 4-generation family, 12 affected (8F, 4M) F;M - France - - - - - 12 Johan den Dunnen
+/. - c.368C>A r.(?) p.(Ser123Ter) Both (homozygous) - pathogenic (recessive) g.52446144G>T g.52153947G>T NM_006578.3:c.242C>A - GNB5_000019 - PubMed: Poke 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat3 PubMed: Poke 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F - Algeria - 13y - - - 2 Johan den Dunnen
+/. - c.368C>A r.(?) p.(Ser123Ter) Both (homozygous) - pathogenic (recessive) g.52446144G>T g.52153947G>T NM_006578.3:c.242C>A - GNB5_000019 - PubMed: Poke 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat4 PubMed: Poke 2019 sister F - Algeria - - - - - 1 Johan den Dunnen
+?/. - c.368C>G r.(?) p.(Ser123Trp) Unknown - likely pathogenic g.52446144G>C g.52153947G>C GNB5(NM_016194.3):c.368C>G (p.S123W) - GNB5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368C>G r.(?) p.(Ser123Trp) Unknown - VUS g.52446144G>C - GNB5(NM_016194.3):c.368C>G (p.S123W) - GNB5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368C>T r.(?) p.(Ser123Leu) Unknown - pathogenic g.52446144G>A g.52153947G>A GNB5(NM_016194.4):c.368C>T (p.S123L) - GNB5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368C>T r.(?) p.(Ser123Leu) Unknown - pathogenic g.52446144G>A g.52153947G>A GNB5(NM_016194.4):c.368C>T (p.S123L) - GNB5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Shamseldin 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPatV1 PubMed: Shamseldin 2016 4-generation family, 5 affected, unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - 5 Johan den Dunnen
+/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Shamseldin 2016 - - Germline yes - - - - DNA SEQ - - NDD FamPatV2 PubMed: Shamseldin 2016 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Shamseldin 2016 - - Germline yes - - - - DNA SEQ - - NDD FamPatV3 PubMed: Shamseldin 2016 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Shamseldin 2016 - - Germline yes - - - - DNA SEQ - - NDD FamPatIV1 PubMed: Shamseldin 2016 cousin F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Shamseldin 2016 - - Germline yes - - - - DNA SEQ - - NDD FamPatIV6 PubMed: Shamseldin 2016 distant cousin F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - likely pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Lodder 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamEPatII1 PubMed: Lodder 2016 brother M no Netherlands Morocco - - - - 1 Johan den Dunnen
+?/. - c.368C>T r.(?) p.(Ser123Leu) Both (homozygous) - likely pathogenic (recessive) g.52446144G>A g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Lodder 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamF PubMed: Lodder 2016 2-generation family, 1 affected, unaffected heterozygous parents M yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.368C>T r.(?) p.(Ser123Leu) Maternal (confirmed) - pathogenic (recessive) g.52446144G>A NC_000015.10:g.52153947G>A NM_006578.3:c.242C>T - GNB5_000003 - PubMed: Malerba 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? patient PubMed: Malerba 2018 2-generation family, 1 affected, unaffected heterozygous parents F no Italy - - - - - 1 Johan den Dunnen
+/. - c.375G>A r.375_376ins375+1_375+25 p.Asp126ValfsTer52 Paternal (confirmed) - pathogenic (recessive) g.52446137C>T g.52153940C>T NM_006578.3:c.249G>A - GNB5_000018 - PubMed: Lodder 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? FamAPatII2;Pat6 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F no Italy - - - - - 2 Johan den Dunnen
+/. - c.375G>A r.375_376ins375+1_375+25 pAsp126ValfsTer52) Paternal (confirmed) - pathogenic (recessive) g.52446137C>T g.52153940C>T NM_006578.3:c.249G>A - GNB5_000018 - PubMed: Lodder 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? FamAPatII1;Pat7 PubMed: Lodder 2016, PubMed: Poke 2019 sister F no Italy - - - - - 1 Johan den Dunnen
+/. - c.375+1G>T r.spl p.(Asp126LeufsTer31) Both (homozygous) - pathogenic (recessive) g.52446136C>A g.52153939C>A NM_006578.3:c.249+1G>T - GNB5_000017 - PubMed: Lodder 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamBPatII2;Pat9 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 1 affected, unaffected heterozygous parents F yes Brazil Jordan - - - - 1 Johan den Dunnen
+/. - c.375+3A>G r.spl? p.? Both (homozygous) - pathogenic g.52446134T>C g.52153937T>C - - GNB5_000002 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBG PubMed: Eldomery 2017, Journal: Eldomery 2017 2 affected siblings - - United States - - - - - 2 Johan den Dunnen
+/. - c.375+3A>G r.spl p.(Asp126LeufsTer31) Both (homozygous) - pathogenic (recessive) g.52446134T>C g.52153937T>C NM_006578.3:c.249+3A>G - GNB5_000002 - PubMed: Lodder 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamCPatII3 PubMed: Lodder 2016 2-generation family, 2 affected (sister/brother), unaffected heterozygous parents F yes United States Puerto Rico - - - - 2 Johan den Dunnen
+/. - c.375+3A>G r.spl p.(Asp126LeufsTer31) Both (homozygous) - pathogenic (recessive) g.52446134T>C g.52153937T>C NM_006578.3:c.249+3A>G - GNB5_000002 - PubMed: Lodder 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamCPatII2 PubMed: Lodder 2016 brother M yes United States Puerto Rico - - - - 1 Johan den Dunnen
-?/. - c.376-6C>T r.(=) p.(=) Unknown - likely benign g.52442128G>A - GNB5(NM_016194.4):c.376-6C>T - GNB5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.390C>G r.(?) p.(Ile130Met) Unknown - VUS g.52442108G>C - GNB5(NM_016194.4):c.390C>G (p.(Ile130Met)) - GNB5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.438_439dup r.(?) p.(Cys147Serfs*5) Unknown - VUS g.52439711_52439712dup - GNB5(NM_016194.4):c.438_439dup (p.(Cys147Serfs*5)) - GNB5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.458G>A r.(?) p.(Cys153Tyr) Maternal (confirmed) - pathogenic (recessive) g.52439692C>T g.52147495C>T - - GNB5_000015 - PubMed: Tang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID patient PubMed: Tang 2020 2-generation family, 1 affected, unaffected heterozygous parents M - China Han - - - - 1 Johan den Dunnen
+/. - c.481del r.(?) p.(Ala161Profs*16) Both (homozygous) - pathogenic (recessive) g.52439669del g.52147472del NM_006578:355delG - GNB5_000012 - PubMed: Turkdogan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EIEE FamPatIV14 PubMed: Turkdogan 2017 5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives F yes Turkey - - - - - 6 Johan den Dunnen
+/. - c.481del r.(?) p.(Ala161Profs*16) Both (homozygous) - pathogenic (recessive) g.52439669del g.52147472del NM_006578:355delG - GNB5_000012 - PubMed: Turkdogan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EIEE FamPatIV8 PubMed: Turkdogan 2017 sister F yes Turkey - 5m15d - - - 1 Johan den Dunnen
+/. - c.481del r.(?) p.(Ala161Profs*16) Both (homozygous) - pathogenic (recessive) g.52439669del g.52147472del NM_006578:355delG - GNB5_000012 - PubMed: Turkdogan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EIEE FamPatIV11 PubMed: Turkdogan 2017 brother M yes Turkey - 7m - - - 1 Johan den Dunnen
+/. - c.481del r.(?) p.(Ala161Profs*16) Both (homozygous) - pathogenic (recessive) g.52439669del g.52147472del NM_006578:355delG - GNB5_000012 - PubMed: Turkdogan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EIEE FamPatIV13 PubMed: Turkdogan 2017 twin sister F yes Turkey - 8m - - - 1 Johan den Dunnen
+/. - c.481del r.(?) p.(Ala161Profs*16) Both (homozygous) - pathogenic (recessive) g.52439669del g.52147472del NM_006578:355delG - GNB5_000012 - PubMed: Turkdogan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EIEE FamPatIV12 PubMed: Turkdogan 2017 brother F yes Turkey - 7y - - - 1 Johan den Dunnen
+/. - c.481del r.(?) p.(Ala161Profs*16) Both (homozygous) - pathogenic (recessive) g.52439669del g.52147472del NM_006578:355delG - GNB5_000012 - PubMed: Turkdogan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EIEE FamPatV1 PubMed: Turkdogan 2017 2nd degree cousin M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.755A>G r.(?) p.(Asn252Ser) Unknown - VUS g.52427826T>C - GNB5(NM_006578.4):c.629A>G (p.N210S) - GNB5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755A>G r.(?) p.(Asn252Ser) Both (homozygous) - likely benign g.52427826T>C g.52135629T>C - - GNB5_000008 no match with the clinical features homozygous patients PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ-NG-I - - ? Fam3PatII2 2-generation family, affected fetus/boy, unaffected heterozygous carrier parents PubMed: Bayam 2024 M yes Saudi Arabia Arab - - - - 1 Zafer Yuksel
+/. - c.863G>A r.(?) p.(Arg288Gln) Paternal (confirmed) - pathogenic (recessive) g.52425575C>T g.52133378C>T NM_006578.3:c.737G>A - GNB5_000013 - PubMed: Vernon 2018 - - Germline - - - - - DNA SEQ - - ID patient PubMed: Vernon 2018 2-generation family, 1 affected, unaffected heterozygous parents M no - white - - - - 1 Johan den Dunnen
+?/. 11 c.987_990delinsGT r.(?) p.(Ser330Cysfs*16) Both (homozygous) ACMG pathogenic (dominant) g.52418164_52418167delinsAC g.52125967_52125970delinsAC - - GNB5_000023 ACMG: PVS1-very strong,PM2-supporting,PM3-moderate,PP4-supporting - - - Germline ? - - - - DNA SEQ-NG-I Blood - LDMLS1;IDDCA 345406 - - M yes Turkey - - - - - 1 Andreas Laner
+/. - c.1032C>A r.(?) p.(Tyr344*) Both (homozygous) - pathogenic (recessive) g.52416814G>T g.52124617G>T NM_006578.3:c.906C>A - GNB5_000014 - PubMed: Shao 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Shao 2020 2-generation family, 1 affected, unaffected heterozygous parents F - Canada Asia-S - - - - 1 Johan den Dunnen
+/. - c.1032C>A r.(?) p.(Tyr344*) Paternal (confirmed) - pathogenic (recessive) g.52416814G>T g.52124617G>T - - GNB5_000014 - PubMed: Tang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID patient PubMed: Tang 2020 2-generation family, 1 affected, unaffected heterozygous parents M - China Han - - - - 1 Johan den Dunnen
+/. - c.1032C>G r.(?) p.(Tyr344*) Both (homozygous) - pathogenic g.52416814G>C g.52124617G>C - - GNB5_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH6681_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1032C>G r.spl p.(Tyr344Ter) Both (homozygous) - pathogenic (recessive) g.52416814G>C g.52124617G>C NM_006578.3:c.906C>G - GNB5_000001 - PubMed: Lodder 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamDPatII1;Pat8 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 1 affected, unaffected heterozygous parents F no United States India - - - - 1 Johan den Dunnen
+?/. - c.1032C>G r.(?) p.(Tyr344Ter) Both (homozygous) - pathogenic (recessive) g.52416814G>C g.52124617G>C NM_006578.3:c.906C>G - GNB5_000001 - PubMed: Lodder 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamEPatII2 PubMed: Lodder 2016 2-generation family, 2 affected (sister/brother), unaffected heterozygous parents F no Netherlands Morocco - - - - 2 Johan den Dunnen
+/. - c.1032C>G r.(?) p.(Tyr344Ter) Both (homozygous) - pathogenic (recessive) g.52416814G>C g.52124617G>C NM_006578.3:c.906C>G - GNB5_000001 - PubMed: Poke 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Poke 2019 5-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1032C>G r.(?) p.(Tyr344*) Both (homozygous) - pathogenic (recessive) g.52416814G>C g.52124617G>C - - GNB5_000001 - PubMed: Yazdani 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat1 PubMed: Yazdani 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents (1st cousin) M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.1032C>G r.(?) p.(Tyr344*) Both (homozygous) - pathogenic (recessive) g.52416814G>C g.52124617G>C - - GNB5_000001 - PubMed: Yazdani 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat2 PubMed: Yazdani 2020 brother M yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.1056G>T r.(?) p.(Trp352Cys) Unknown - VUS g.52416790C>A g.52124593C>A GNB5(NM_016194.3):c.1056G>T (p.W352C) - GNB5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1120C>T r.(?) p.(Arg374Ter) Maternal (confirmed) - pathogenic (recessive) g.52416726G>A g.52124529G>A NM_006578.3:c.994C>T - GNB5_000016 - PubMed: Lodder 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? FamAPatII2;Pat6 PubMed: Lodder 2016, PubMed: Poke 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F no Italy - - - - - 2 Johan den Dunnen
+/. - c.1120C>T r.(?) p.(Arg374Ter) Maternal (confirmed) - pathogenic (recessive) g.52416726G>A g.52124529G>A NM_006578.3:c.994C>T - GNB5_000016 - PubMed: Lodder 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? FamAPatII1;Pat7 PubMed: Lodder 2016, PubMed: Poke 2019 sister F no Italy - - - - - 1 Johan den Dunnen
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