Full data view for gene PALB2

Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_024675.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Gender     

Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Rahman 2007 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Garcia 2009 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Guenard 2010 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Balia2010 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Berg2013 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Blanco2012 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Blanco2013 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Bogdanova2011 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Cao2009 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Ding2011 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Hellebrand2011 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Hofstatter2011 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Kuusisto2011 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Prokofyeva2012 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: SautydeChalon2010 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Silvestri2010 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Sluiter2009 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Teo2013 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Tischkowitz2008 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Tischkowitz2012 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Wong-Brown2013 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Wong2011 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Zheng2012 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Parent #1 - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Aoude 2014 ClinVar-126699 rs45551636 Unknown - 12/201 HpyAV+, BccI-, BseRI- - - DNA SEQ - - CMM10 - - - ? - Australia - - - - - 12 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Parent #1 - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Nguyen-Dumont 2013 ClinVar-126699 rs45551636 Unknown - - HpyAV+, BccI-, BseRI- - - DNA SEQ - - cancer, breast - - - F - Australia - - - - - 7 Marc Tischkowitz
-?/- 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - PubMed: Catucci 2014 ClinVar-126699 rs45551636 Germline - - HpyAV+, BccI-, BseRI- - - DNA SEQ - - cancer, breast - - - - - - - - - - - 48 Marc Tischkowitz
./. - c.2993G>A r.(?) p.(Gly998Glu) - Parent #1 - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - Thibodeau lab (Mayo Clinic) ClinVar-126699 rs45551636 Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 4 Melissa DeRycke
./. - c.2993G>A r.(?) p.(Gly998Glu) - Parent #1 - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 - Thibodeau lab (Mayo Clinic) ClinVar-126699 rs45551636 Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 48 Melissa DeRycke
-/. - c.2993G>A r.(?) p.(Gly998Glu) - Unknown - benign g.23634293C>T g.23622972C>T PALB2(NM_024675.3):c.2993G>A (p.(Gly998Glu), p.G998E), PALB2(NM_024675.4):c.2993G>A (p.G998E) - PALB2_010135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2993G>A r.(?) p.(Gly998Glu) - Unknown - benign g.23634293C>T g.23622972C>T PALB2(NM_024675.3):c.2993G>A (p.(Gly998Glu), p.G998E), PALB2(NM_024675.4):c.2993G>A (p.G998E) - PALB2_010135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2993G>A r.(?) p.(Gly998Glu) - Unknown - likely benign g.23634293C>T g.23622972C>T PALB2(NM_024675.3):c.2993G>A (p.(Gly998Glu), p.G998E), PALB2(NM_024675.4):c.2993G>A (p.G998E) - PALB2_010135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2993G>A r.(?) p.(Gly998Glu) - Unknown - benign g.23634293C>T g.23622972C>T PALB2(NM_024675.3):c.2993G>A (p.(Gly998Glu), p.G998E), PALB2(NM_024675.4):c.2993G>A (p.G998E) - PALB2_010135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.2993G>A r.(?) p.(Gly998Glu) - Unknown - benign g.23634293C>T g.23622972C>T - - PALB2_010135 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-?/. - c.2993G>A r.(?) p.(Gly998Glu) - Parent #1 - likely benign g.23634293C>T g.23622972C>T - - PALB2_010135 38 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45551636 Germline - 38/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 38 Mohammed Faruq
-?/. - c.2993G>A - p.(Gly998Glu) - Unknown - NA g.23634293C>T g.23622972C>T - - PALB2_010135 expression cloning HR efficiency 95,16%, PARPi resistance 97,37%, cisplatin resistance 80,44%, normalised cells 129,12% PubMed: Boonen 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2993G>A - p.(Gly998Glu) - Unknown - NA g.23634293C>T g.23622972C>T - - PALB2_010135 expression cloning relative homology directed repair 6.0 PubMed: Wiltshire 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2993G>A r.(?) p.(Gly998Glu) - Unknown - benign g.23634293C>T - PALB2(NM_024675.3):c.2993G>A (p.(Gly998Glu), p.G998E), PALB2(NM_024675.4):c.2993G>A (p.G998E) - PALB2_010135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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