Full data view for gene BEND2

Information The variants shown are described using the NM_153346.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.236A>G r.(?) p.(Tyr79Cys) Unknown - likely benign g.18234643T>C g.18216523T>C BEND2(NM_001184767.1):c.236A>G (p.(Tyr79Cys)) - BEND2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.462T>G r.(?) p.(Phe154Leu) Parent #1 - VUS g.18230715A>C g.18212595A>C - - BEND2_000019 recurrent, found 23 times PubMed: Tarpey 2009 - - Germline - 23/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 23 Lucy Raymond
-?/. - c.482A>G r.(?) p.(Tyr161Cys) Unknown - likely benign g.18230695T>C g.18212575T>C BEND2(NM_153346.4):c.482A>G (p.Y161C) - BEND2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508T>A r.(?) p.(Ser170Thr) Unknown - VUS g.18222020A>T g.18203900A>T BEND2(NM_001184767.1):c.508T>A (p.(Ser170Thr)) - BEND2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.515C>T r.(?) p.(Pro172Leu) Unknown - VUS g.18222013G>A g.18203893G>A BEND2(NM_001184767.1):c.515C>T (p.(Pro172Leu)) - BEND2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.586G>A r.(?) p.(Glu196Lys) Unknown - likely benign g.18221942C>T g.18203822C>T BEND2(NM_001184767.1):c.586G>A (p.(Glu196Lys)) - BEND2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.953C>A r.(?) p.(Thr318Lys) Unknown - VUS g.18220015G>T g.18201895G>T BEND2(NM_153346.4):c.953C>A (p.T318K) - BEND2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.954A>G r.(?) p.(Thr318=) Unknown - VUS g.18220014T>C g.18201894T>C BEND2(NM_153346.4):c.954A>G (p.T318=) - BEND2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1164C>A r.(=) p.(=) Parent #1 - VUS g.18213432G>T g.18195312G>T P388P - BEND2_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1289-144dup r.(=) p.(=) Unknown - VUS g.18198923dup g.18180803dup - - BEND2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1342G>A r.(?) p.(Val448Ile) Unknown - likely benign g.18198717C>T g.18180597C>T BEND2(NM_153346.4):c.1342G>A (p.V448I) - BEND2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1435C>G r.(?) p.(Leu479Val) Parent #1 - VUS g.18195884G>C g.18177764G>C - - BEND2_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1753-281T>G r.(=) p.(=) Maternal (inferred) - VUS g.18192659A>C g.18174539A>C - - BEND2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1753-281T>G r.(=) p.(=) Maternal (inferred) - VUS g.18192659A>C g.18174539A>C - - BEND2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2121C>T r.(?) p.(Asn707=) Unknown - likely benign g.18189185G>A - BEND2(NM_153346.4):c.2121C>T (p.N707=) - BEND2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*31dup r.(=) p.(=) Unknown - VUS g.18183112dup g.18164992dup - - BEND2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*31dup r.(=) p.(=) Unknown - VUS g.18183112dup g.18164992dup - - BEND2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*33del r.(=) p.(=) Unknown - VUS g.18183097del g.18164977del - - BEND2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*33del r.(=) p.(=) Unknown - VUS g.18183097del g.18164977del - - BEND2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*868C>T r.(=) p.(=) Maternal (inferred) - VUS g.18182261G>A g.18164141G>A - - BEND2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*868C>T r.(=) p.(=) Maternal (inferred) - VUS g.18182261G>A g.18164141G>A - - BEND2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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