Full data view for gene GABRB2

Information The variants shown are described using the NM_000813.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-152-8del r.(=) p.(=) Unknown - likely benign g.160973825del - GABRB2(NM_021911.2):c.-152-8delT - GABRB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-152-8dup r.(=) p.(=) Unknown - benign g.160973825dup - GABRB2(NM_021911.2):c.-152-8dupT - GABRB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-152-4C>A r.spl? p.? Unknown - VUS g.160973805G>T - GABRB2(NM_000813.3):c.-152-4C>A - GABRB2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-56C>G r.(?) p.(=) Unknown - VUS g.160973705G>C - GABRB2(NM_000813.2):c.-56C>G (p.?) - GABRB2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.? r.? p.? Paternal (confirmed) ACMG VUS g.? - L375F - RAD50_000000 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - target gene panel epilepsy Pat278 PubMed: Zhou 2018 family, 1 affected, unaffected carrier father F - China - - - - - 1 Johan den Dunnen
?/. - c.94A>G r.(?) p.(Asn32Asp) Unknown - VUS g.160973403T>C - GABRB2(NM_000813.2):c.94A>G (p.(Asn32Asp)) - GABRB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.236T>C r.(?) p.(Met79Thr) Unknown - likely pathogenic (dominant) g.160972234A>G g.161545228A>G - - GABRB2_000015 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.236T>C r.(?) p.(Met79Thr) Unknown - likely pathogenic (dominant) g.160972234A>G g.161545228A>G - - GABRB2_000015 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ID Fam3PatII1;1242500 PubMed: Isidor 2016, Journal: Isidor 2016, PubMed: Hamdan 2017 - F no United States - - - - - 1 Sébastien Küry
+/. - c.373G>A r.(?) p.(Asp125Asn) Unknown - pathogenic g.160886715C>T - - - GABRB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.373G>A r.(?) p.(Asp125Asn) Unknown - likely pathogenic (dominant) g.160886715C>T g.161459709C>T - - GABRB2_000012 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - trio WES DEE K.02591 PubMed: Hamdan 2017 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.373G>C r.(?) p.(Asp125His) Unknown - likely pathogenic (dominant) g.160886715C>G g.161459709C>G - - GABRB2_000005 - PubMed: Minardi 2020 - - Germline - - - - - DNA SEQ-NG-I - - EE - PubMed: Minardi 2020 - F - - - - - - - 1 Francesca Bisulli
?/. - c.442G>A r.(?) p.(Val148Ile) Unknown - VUS g.160886646C>T - - - GABRB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.545G>A r.(?) p.(Gly182Glu) Unknown - VUS g.160763773C>T g.161336766C>T GABRB2(NM_021911.2):c.545G>A (p.G182E) - GABRB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.719G>C r.(?) p.(Arg240Thr) Unknown - likely pathogenic (dominant) g.160761872C>G g.161334865C>G - - GABRB2_000003 - PubMed: Papuc 2019 - - De novo - - - - - DNA SEQ-NG-I blood WES EE 73324 - - F no Switzerland - - - - - 1 Anaïs Begemann
+/. - c.730T>C r.(?) p.(Tyr244His) Unknown - pathogenic (dominant) g.160761861A>G - NM_021911:c.T730C (Y244H) - GABRB2_000014 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0753 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) F - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+?/. - c.730T>C r.(?) p.(Tyr244His) Unknown - likely pathogenic (dominant) g.160761861A>G g.161334854A>G - - GABRB2_000014 - PubMed: Hamdan 2017 - - De novo - - - - - DNA MIP - - DEE T23211 PubMed: Hamdan 2017 - F yes Iraq - - - - - 1 Johan den Dunnen
?/. - c.751A>G r.(?) p.(Met251Val) Unknown - VUS g.160761840T>C g.161334833T>C GABRB2(NM_021911.3):c.751A>G (p.M251V) - GABRB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.754C>G r.(?) p.(Pro252Ala) Unknown - likely pathogenic g.160761837G>C g.161334830G>C - - GABRB2_000001 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - 1 Danielle Bosch
+?/. - c.830T>C r.(?) p.(Leu277Ser) Unknown - likely pathogenic (dominant) g.160761761A>G g.161334754A>G - - GABRB2_000019 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES DEE G64518 PubMed: Hamdan 2017 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.830T>C r.(?) p.(Leu277Ser) Unknown - likely pathogenic (dominant) g.160761761A>G g.161334754A>G - - GABRB2_000019 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - trio WES DEE HA076 PubMed: Hamdan 2017 - M - Wales - - - - - 1 Johan den Dunnen
+?/. - c.851C>A r.(?) p.(Thr284Lys) Unknown - likely pathogenic (dominant) g.160758116G>T g.161331109G>T - - GABRB2_000020 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES DEE 31841 PubMed: Hamdan 2017 - M - - - - - - - 1 Johan den Dunnen
+/. - c.869C>T r.(?) p.(Thr290Ile) Maternal (confirmed) ACMG pathogenic (maternal) g.160758098G>A g.161331091G>A - - GABRB2_000013 segregation with the phenotype in a family with multiple affected individuals - - - Germline yes - - - - DNA SEQ-NG-I - - DEE family - family with multiple affected individuals - - - - - - - - 2 Marketa Wayhelova
+?/. - c.878G>C r.(?) p.(Arg293Pro) Unknown - likely pathogenic (dominant) g.160758089C>G g.161331082C>G - - GABRB2_000018 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES DEE indvLB PubMed: Hamdan 2017 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.904G>A r.(?) p.(Val302Met) Unknown - likely pathogenic (dominant) g.160758063C>T g.161331056C>T - - GABRB2_000007 - PubMed: Lee 2019 ClinVar-000837709.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat15 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.908A>G r.(?) p.(Lys303Arg) Unknown - likely pathogenic (dominant) g.160758059T>C g.161331052T>C - - GABRB2_000016 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - gene panel DEE CNSA01 PubMed: Hamdan 2017 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.911C>T r.(?) p.(Ala304Val) Unknown - likely pathogenic (dominant) g.160758056G>A g.161331049G>A - - GABRB2_000017 - PubMed: Hamdan 2017 - - Germline/De novo (untested) - - - - - DNA MIPsm - gene panel DEE T21213B PubMed: Hamdan 2017 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.946G>A r.(?) p.(Val316Ile) Unknown - likely pathogenic (dominant) g.160758021C>T g.161331014C>T - - GABRB2_000021 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ-NG - WES clinical DEE 3001866 PubMed: Hamdan 2017 - F - - - - - - - 1 Johan den Dunnen
+/. 9 c.956C>T r.(?) p.(Ala319Val) Unknown ACMG likely pathogenic (dominant) g.160758011G>A g.161331004G>A - - GABRB2_000026 ACMG: PS4-supporting,PM1-moderate,PM2-supporting,PP2-supporting,PP3-moderate - VCV001712337.1 - Germline ? - - - - DNA SEQ-NG-I Blood - DEE92;IECEE2 340374 - - F no Iraq Kurdisch - - - - 1 Andreas Laner
?/. - c.976G>C r.(?) p.(Val326Leu) Unknown - VUS g.160757991C>G - GABRB2(NM_021911.3):c.976G>C (p.V326L) - GABRB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1077+4399C>G r.(=) p.(=) Unknown - VUS g.160753491G>C - GABRB2(NM_001371727.1):c.1078-3C>G (p.?) - GABRB2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1077+4515G>A r.(=) p.(=) Unknown - VUS g.160753375C>T - GABRB2(NM_021911.2):c.1191G>A (p.T397=, p.(Thr397Thr)) - GABRB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1077+4515G>A r.(=) p.(=) Unknown - VUS g.160753375C>T - GABRB2(NM_021911.2):c.1191G>A (p.T397=, p.(Thr397Thr)) - GABRB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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