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.

26 entries on 1 page. Showing entries 1 - 26.
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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     

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     
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Rahman 2007 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Garcia 2009 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Balia2010 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Blanco2012 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Blanco2013 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Bogdanova2011 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Catucci2012 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Dansonka-Mieszkowska2010 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Ding2011 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Erkko2007 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Hellebrand2011 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Hofstatter2011 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Prokofyeva2012 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Sluiter2009 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Teo2013 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Tischkowitz2008 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-/- 12 c.3300T>G r.(=) p.(=) - Unknown - benign g.23619235A>C g.23607914A>C Thr1100Thr - PALB2_010159 - PubMed: Wong2011 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA ? - - cancer, breast, PNCA3 - - - - - - - - - - - 1 Marc Tischkowitz
-?/- 12 c.3300T>G r.(=) p.(=) - Parent #1 - likely benign g.23619235A>C g.23607914A>C - - PALB2_010159 - PubMed: Aoude 2014 ClinVar-126730 rs45516100 Unknown - 11/201 BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA SEQ - - CMM10 - - - ? - Australia - - - - - 11 Marc Tischkowitz
?/- 12 c.3300T>G r.(=) p.(=) - Parent #1 - VUS g.23619235A>C g.23607914A>C - - PALB2_010159 - PubMed: Nguyen-Dumont 2013 ClinVar-126730 rs45516100 Unknown - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA SEQ - - cancer, breast - - - F - Australia - - - - - 9 Marc Tischkowitz
-?/- 12 c.3300T>G r.(=) p.(=) - Unknown - likely benign g.23619235A>C g.23607914A>C - - PALB2_010159 - PubMed: Catucci 2014 ClinVar-126730 rs45516100 Germline - - BlpI+, HgaI+, Hpy99I+, HinfI-, MlyI-, PleI- - - DNA SEQ - - cancer, breast - - - - - - - - - - - 53 Marc Tischkowitz
-/. - c.3300T>G r.(?) p.(Thr1100=) - Unknown - benign g.23619235A>C g.23607914A>C PALB2(NM_024675.3):c.3300T>G (p.(Thr1100=), p.T1100=), PALB2(NM_024675.4):c.3300T>G (p.T1100=) - PALB2_010159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3300T>G r.(?) p.(Thr1100=) - Unknown - likely benign g.23619235A>C g.23607914A>C PALB2(NM_024675.3):c.3300T>G (p.(Thr1100=), p.T1100=), PALB2(NM_024675.4):c.3300T>G (p.T1100=) - PALB2_010159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3300T>G r.(?) p.(Thr1100=) - Unknown - benign g.23619235A>C g.23607914A>C PALB2(NM_024675.3):c.3300T>G (p.(Thr1100=), p.T1100=), PALB2(NM_024675.4):c.3300T>G (p.T1100=) - PALB2_010159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3300T>G r.(?) p.(Thr1100=) - Unknown - benign g.23619235A>C g.23607914A>C PALB2(NM_024675.3):c.3300T>G (p.(Thr1100=), p.T1100=), PALB2(NM_024675.4):c.3300T>G (p.T1100=) - PALB2_010159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.3300T>G r.(?) p.(Thr1100=) - Unknown - benign g.23619235A>C g.23607914A>C - - PALB2_010159 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. - c.3300T>G r.(?) p.(Thr1100=) - Unknown - benign g.23619235A>C - PALB2(NM_024675.3):c.3300T>G (p.(Thr1100=), p.T1100=), PALB2(NM_024675.4):c.3300T>G (p.T1100=) - PALB2_010159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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