Full data view for gene CHRNB2

Information The variants shown are described using the NM_000748.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
Legend   How to query  

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.-214A>G r.(?) p.(=) Unknown - likely benign g.154540307A>G g.154567831A>G CHRNB2(NM_000748.3):c.-214A>G - CHRNB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-53C>T r.(?) p.(=) Unknown - benign g.154540468C>T g.154567992C>T CHRNB2(NM_000748.3):c.-53C>T - CHRNB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26C>T r.(?) p.(Ala9Val) Unknown - likely benign g.154540546C>T - CHRNB2(NM_000748.2):c.26C>T (p.(Ala9Val)) - CHRNB2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64+152C>T r.(=) p.(=) Unknown - likely benign g.154540736C>T g.154568260C>T CHRNB2(NM_000748.3):c.64+152C>T - CHRNB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64+165_64+166del r.(=) p.(=) Unknown - likely benign g.154540749_154540750del g.154568273_154568274del CHRNB2(NM_000748.3):c.64+165_64+166delAG - CHRNB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64+185G>A r.(=) p.(=) Unknown - likely benign g.154540769G>A g.154568293G>A CHRNB2(NM_000748.3):c.64+185G>A - CHRNB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65-99A>T r.(=) p.(=) Unknown - likely benign g.154541839A>T g.154569363A>T CHRNB2(NM_000748.3):c.65-99A>T - CHRNB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77C>T r.(?) p.(Thr26Met) Unknown - likely benign g.154541950C>T g.154569474C>T CHRNB2(NM_000748.3):c.77C>T (p.(Thr26Met), p.T26M) - CHRNB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Thr26Met) Unknown - VUS g.154541950C>T - CHRNB2(NM_000748.3):c.77C>T (p.(Thr26Met), p.T26M) - CHRNB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.100G>C r.(?) p.(Glu34Gln) Unknown ACMG likely pathogenic (dominant) g.154541973G>C g.154569497G>C - - CHRNB2_000038 ACMG PM1,PM2,PP3,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat123 PubMed: Chuan 2022 - F - China - - - - - 1 Johan den Dunnen
-?/. - c.210+9A>G r.(=) p.(=) Unknown - likely benign g.154542092A>G g.154569616A>G CHRNB2(NM_000748.3):c.210+9A>G - CHRNB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210+67del r.(=) p.(=) Unknown - likely benign g.154542150del g.154569674del CHRNB2(NM_000748.3):c.210+67delT - CHRNB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211-52G>A r.(=) p.(=) Unknown - likely benign g.154542216G>A g.154569740G>A CHRNB2(NM_000748.3):c.211-52G>A - CHRNB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211-13T>C r.(=) p.(=) Unknown - likely benign g.154542255T>C g.154569779T>C CHRNB2(NM_000748.3):c.211-13T>C - CHRNB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256-93C>A r.(=) p.(=) Unknown - likely benign g.154542641C>A g.154570165C>A CHRNB2(NM_000748.3):c.256-93C>A - CHRNB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.366-157T>C r.(=) p.(=) Unknown - benign g.154543508T>C g.154571032T>C CHRNB2(NM_000748.3):c.366-157T>C - CHRNB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366-109C>T r.(=) p.(=) Unknown - likely benign g.154543556C>T g.154571080C>T CHRNB2(NM_000748.3):c.366-109C>T - CHRNB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366-78C>T r.(=) p.(=) Unknown - likely benign g.154543587C>T g.154571111C>T CHRNB2(NM_000748.3):c.366-78C>T - CHRNB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366-54G>T r.(=) p.(=) Unknown - likely benign g.154543611G>T g.154571135G>T CHRNB2(NM_000748.3):c.366-54G>T - CHRNB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483C>T r.(?) p.(His161=) Unknown - benign g.154543782C>T - CHRNB2(NM_000748.3):c.483C>T (p.H161=) - CHRNB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499C>T r.(?) p.(Gln167*) Unknown - VUS g.154543798C>T - CHRNB2(NM_000748.3):c.499C>T (p.Q167*) - CHRNB2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538C>T r.(?) p.(Arg180Cys) Unknown - VUS g.154543837C>T - CHRNB2(NM_000748.2):c.538C>T (p.(Arg180Cys)) - CHRNB2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.620C>G r.(?) p.(Ala207Gly) Unknown - VUS g.154543919C>G - CHRNB2(NM_000748.2):c.620C>G (p.(Ala207Gly)) - CHRNB2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.859G>A r.(?) p.(Val287Met) Unknown - pathogenic g.154544158G>A - - - CHRNB2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1009G>A r.(?) p.(Val337Ile) Unknown - likely benign g.154544308G>A g.154571832G>A CHRNB2(NM_000748.2):c.1009G>A (p.(Val337Ile)) - CHRNB2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046T>C r.(?) p.(Met349Thr) Unknown - likely benign g.154544345T>C g.154571869T>C CHRNB2(NM_000748.2):c.1046T>C (p.M349T), CHRNB2(NM_000748.3):c.1046T>C (p.M349T) - CHRNB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1046T>C r.(?) p.(Met349Thr) Unknown - VUS g.154544345T>C - CHRNB2(NM_000748.2):c.1046T>C (p.M349T), CHRNB2(NM_000748.3):c.1046T>C (p.M349T) - CHRNB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1087C>T r.(?) p.(Leu363=) Unknown - likely benign g.154544386C>T g.154571910C>T CHRNB2(NM_000748.3):c.1087C>T (p.L363=) - CHRNB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1111G>T r.(?) p.(Glu371*) Unknown - VUS g.154544410G>T - CHRNB2(NM_000748.2):c.1111G>T (p.(Glu371*)) - CHRNB2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128C>T r.(?) p.(Leu376=) Unknown - likely benign g.154544427C>T g.154571951C>T CHRNB2(NM_000748.3):c.1128C>T (p.L376=) - CHRNB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1191G>C r.(?) p.(Gln397His) Unknown - benign g.154544490G>C g.154572014G>C CHRNB2(NM_000748.3):c.1191G>C (p.Q397H) - CHRNB2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192G>A r.(?) p.(Gly398Arg) Unknown - VUS g.154544491G>A - CHRNB2(NM_000748.2):c.1192G>A (p.G398R) - CHRNB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1233G>A r.(?) p.(Ala411=) Unknown - likely benign g.154544532G>A g.154572056G>A CHRNB2(NM_000748.3):c.1233G>A (p.A411=) - CHRNB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1233G>A r.(?) p.(Ala411=) Unknown - likely benign g.154544532G>A g.154572056G>A CHRNB2(NM_000748.3):c.1233G>A (p.A411=) - CHRNB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1235G>A r.(?) p.(Gly412Asp) Unknown - likely benign g.154544534G>A g.154572058G>A CHRNB2(NM_000748.3):c.1235G>A (p.(Gly412Asp), p.G412D) - CHRNB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1235G>A r.(?) p.(Gly412Asp) Unknown - likely benign g.154544534G>A - CHRNB2(NM_000748.3):c.1235G>A (p.(Gly412Asp), p.G412D) - CHRNB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1240G>T r.(?) p.(Gly414Trp) Unknown - VUS g.154544539G>T - CHRNB2(NM_000748.3):c.1240G>T (p.(Gly414Trp)) - CHRNB2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338+10G>A r.(=) p.(=) Unknown - likely benign g.154544647G>A g.154572171G>A CHRNB2(NM_000748.3):c.1338+10G>A - CHRNB2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338+11C>T r.(=) p.(=) Unknown - likely benign g.154544648C>T g.154572172C>T CHRNB2(NM_000748.3):c.1338+11C>T - CHRNB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1338+14G>T r.(=) p.(=) Unknown - benign g.154544651G>T g.154572175G>T CHRNB2(NM_000748.3):c.1338+14G>T - CHRNB2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338+25G>A r.(=) p.(=) Unknown - likely benign g.154544662G>A g.154572186G>A CHRNB2(NM_000748.3):c.1338+25G>A - CHRNB2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1339-61T>A r.(=) p.(=) Unknown - likely benign g.154548177T>A g.154575701T>A CHRNB2(NM_000748.3):c.1339-61T>A - CHRNB2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378C>G r.(?) p.(Arg460Gly) Unknown - likely benign g.154548277C>G g.154575801C>G CHRNB2(NM_000748.2):c.1378C>G (p.R460G), CHRNB2(NM_000748.3):c.1378C>G (p.R460G) - CHRNB2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1378C>G r.(?) p.(Arg460Gly) Unknown - VUS g.154548277C>G - CHRNB2(NM_000748.2):c.1378C>G (p.R460G), CHRNB2(NM_000748.3):c.1378C>G (p.R460G) - CHRNB2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1415T>C r.(?) p.(Phe472Ser) Unknown - likely benign g.154548314T>C - CHRNB2(NM_000748.2):c.1415T>C (p.(Phe472Ser)) - CHRNB2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1423A>C r.(?) p.(Ile475Leu) Unknown - likely benign g.154548322A>C - CHRNB2(NM_000748.2):c.1423A>C (p.(Ile475Leu)) - CHRNB2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1442C>T r.(?) p.(Pro481Leu) Unknown - likely pathogenic g.154548341C>T g.154575865C>T CHRNB2(NM_000748.3):c.1442C>T (p.P481L) - CHRNB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1482A>G r.(?) p.(Ser494=) Unknown - likely benign g.154548381A>G - CHRNB2(NM_000748.3):c.1482A>G (p.S494=) - CHRNB2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485C>T r.(?) p.(Asp495=) Unknown - likely benign g.154548384C>T - CHRNB2(NM_000748.3):c.1485C>T (p.D495=) - CHRNB2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62T>G r.(=) p.(=) Unknown - likely benign g.154548470T>G g.154575994T>G CHRNB2(NM_000748.3):c.*62T>G - CHRNB2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8932T>C r.(=) p.(=) Unknown - VUS g.154557340T>C g.154584864T>C ADAR(NM_001193495.2):c.2738A>G (p.Y913C) - ADAR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8932T>C r.(=) p.(=) Unknown - VUS g.154557340T>C g.154584864T>C ADAR(NM_001193495.2):c.2738A>G (p.Y913C) - ADAR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.