All transcript variants in 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.

1319 entries on 14 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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     

Owner     
./. - c.-5679767_*2084573del - r.0? p.0? - g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-/- 1 c.-359G>C benign r.(?) p.(=) - g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Ding 2011 ClinVar-126576 rs515726057 Germline - - NciI- 0 - Marc Tischkowitz
-/- 1 c.-359G>C benign r.(?) p.(=) - g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Balia 2010 ClinVar-126576 rs515726057 Germline - - NciI- 0 - Marc Tischkowitz
?/-? 1 c.-227T>G VUS r.(=) p.(=) - g.23652705A>C g.23641384A>C - - PALB2_010206 - PubMed: Blanco 2012 ClinVar-126573 rs515726055 Unknown - - - 0 - Marc Tischkowitz
+/+ 1_10 c.-200-?_3113+?del pathogenic r.? p.? - g.(23625413_23632682)_(23652678_?)del - c.(?_-200)_(3113+1_3114-1)del - PALB2_000002 - PubMed: Ameziane 2008; contributed by Fanconi Anemia database ClinVar-126574 - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/+ _1_10i c.(?_-200)_(3113+1_3114-1)del pathogenic r.0? p.0? FA g.(23625413_23632682)_(23652678_?)del - c.-200-?_3113+?del - PALB2_000002 - PubMed: Ameziane 2008 ClinVar-126574 - Germline ? - - 0 - Johan de Winter
-/-? 1 c.-194C>G benign r.(=) p.(=) - g.23652672G>C g.23641351G>C - - PALB2_010011 - PubMed: Zheng 2011 ClinVar-126572 rs515726054 Germline - - AciI+;BslI- 0 - Marc Tischkowitz
?/-? 1 c.-158G>C VUS r.(=) p.(=) - g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Casadei2011 ClinVar-126571 rs138200248 Unknown - - - 0 - Marc Tischkowitz
?/-? 1 c.-158G>C VUS r.(=) p.(=) - g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Wong-Brown2013 ClinVar-126571 rs138200248 Unknown - - - 0 - Marc Tischkowitz
?/-? 1 c.-158G>C VUS r.(=) p.(=) - g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Blanco 2012 ClinVar-126571 rs138200248 Unknown - - - 0 - Marc Tischkowitz
?/-? 1 c.-158G>C VUS r.(=) p.(=) - g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Hellebrand 2011 ClinVar-126571 rs138200248 Unknown - - - 0 - Marc Tischkowitz
?/-? 1 c.-145G>C VUS r.(=) p.(=) - g.23652623C>G g.23641302C>G - - PALB2_010204 - PubMed: Wong-Brown 2013 ClinVar-126570 rs373698818 Unknown - - - 0 - Marc Tischkowitz
-/-? 1 c.-104C>T benign r.(=) p.(=) - g.23652582G>A g.23641261G>A - - PALB2_010008 - PubMed: Sauty de Chalon 2010 ClinVar-126569 rs180177140 Germline - - MnlI+ 0 - Marc Tischkowitz
?/-? 1 c.-98C>A VUS r.(=) p.(=) - g.23652576G>T g.23641255G>T 103G>A - PALB2_010174 - PubMed: Ding 2011 ClinVar-126579 rs515726058 Unknown - - BslI-, HpyAV- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Garcia 2009 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Cao 2009 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Balia2010 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Blanco2012 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Blanco2013 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Catucci2012 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Hellebrand2011 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Prokofyeva2012 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Silvestri2010 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Teo2013 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(=) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Wong-Brown2013 ClinVar-126578 rs8053188 Germline - - StuI- 0 - Marc Tischkowitz
-/- 1 c.-47G>A benign r.(?) p.(=) - g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Catucci 2014 ClinVar-126578 rs8053188 Germline - - - 0 - Marc Tischkowitz
-/. - c.-47G>A benign r.(=) p.(=) - g.23652525C>T - PALB2:NM_024675.3:c.-47G>A (?) - PALB2_010007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/-? 1 c.-46G>A benign r.(=) p.(=) - g.23652524C>T g.23641203C>T - - PALB2_010010 - PubMed: Erkko 2007 ClinVar-126577 rs180177141 Germline - - AhdI+;StuI- 0 - Marc Tischkowitz
-?/. - c.-33G>A likely benign r.(=) p.(=) - g.23652511C>T - PALB2:NM_024675.3:c.-33G>A (?) - PALB2_010372 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/-? 1 c.-25C>A VUS r.(=) p.(=) - g.23652503G>T g.23641182G>T 1(-25) C>A - PALB2_010173 - PubMed: Casadei 2011 ClinVar-126575 rs515726056 Unknown - - - 0 - Marc Tischkowitz
?/. 1 c.-2C>G VUS r.(?) p.(=) - g.23652480G>C - - - PALB2_010558 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
+?/. - c.3G>A likely pathogenic r.? p.? - g.23652476C>T - PALB2:NM_024675.3:c.3G>A (Met1?) - PALB2_010371 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 1 c.11C>T VUS r.(?) p.(Pro4Leu) - g.23652468G>A g.23641147G>A - - PALB2_010175 - PubMed: Wong-Brown 2013 ClinVar-126593 rs45619737 Unknown - - - 0 - Marc Tischkowitz
?/? 1 c.13C>T VUS r.(?) p.(Pro5Ser) - g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Casadei 2011 ClinVar-126600 rs377085677 Unknown - - - 0 - Marc Tischkowitz
?/? 1 c.13C>T VUS r.(?) p.(Pro5Ser) - g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Catucci 2014 ClinVar-126600 rs377085677 Germline - - - 0 - Marc Tischkowitz
./. - c.13C>T - r.(?) p.(Pro5Ser) - g.23652466G>A g.23641145G>A - - PALB2_010176 - Thibodeau lab (Mayo Clinic) ClinVar-126600 rs377085677 Germline - - - 0 - Melissa DeRycke
./. - c.21G>T - r.(?) p.(Lys7Asn) - g.23652458C>A g.23641137C>A - - PALB2_010346 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/-? 1 c.23C>T VUS r.(?) p.(Pro8Leu) - g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Ding 2011 ClinVar-126652 rs150390726 Germline - - BseRI+ 0 - Marc Tischkowitz
-?/-? 1 c.23C>T likely benign r.(?) p.(Pro8Leu) - g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Tung 2014 ClinVar-126652 rs150390726 Unknown - - - 0 - Marc Tischkowitz
./. - c.23C>T - r.(?) p.(Pro8Leu) - g.23652456G>A g.23641135G>A - - PALB2_010012 - Thibodeau lab (Mayo Clinic) ClinVar-126652 rs150390726 Germline - - - 0 - Melissa DeRycke
?/. 1 c.25C>T VUS r.(?) p.(Leu9Phe) - g.23652454G>A - - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 5/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. 1 c.25C>T VUS r.(?) p.(Leu9Phe) - g.23652454G>A - - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 12/11241 controls - 0 - Yukihide Momozawa
?/. - c.25C>T VUS r.(?) p.(Leu9Phe) - g.23652454G>A - - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 7/12490 controls - 0 - Yukihide Momozawa
-/-? 1 c.26T>A benign r.(?) p.(Leu9His) - g.23652453A>T g.23641132A>T - - PALB2_010013 - PubMed: Prokofyeva 2012 ClinVar-126674 rs515726092 Germline - - MslI+;DdeI- 0 - Marc Tischkowitz
?/. - c.37G>A VUS r.(?) p.Glu13Lys - g.23652442C>T - - - PALB2_010575 ACMG grading: BP5,PM2; Kraus et al.; 2017. In J Cancer 140: 95 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. (Descr. as VUS. Suppl. Table 4 (online) Proband tumour type: BC) Shindo et al.; 2017. J Clin Oncol 35: 3382 Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. (Pancreatic cancer, susceptibility to?; Classified as VUS. Table A2. Descr. as c.37C>T (reverse)) - - rs373287455 Germline - - - 0 - Andreas Laner
+/+ 1 c.48G>A pathogenic r.32_48del p.(=) - g.23652431C>T g.23641110C>T - - PALB2_010219 - PubMed: Catucci 2014 - rs587776405 Germline - - - 0 - Marc Tischkowitz
+/+ 1 c.48G>A pathogenic r.32_48del p.(=) - g.23652431C>T g.23641110C>T - - PALB2_010219 1 families PubMed: Antoniou 2014 - rs587776405 Germline - - - 0 - Marc Tischkowitz
?/+? 1i c.48+1G>C VUS r.spl? p.? - g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - - 0 - Alfons Meindl
?/+? 1i c.48+1G>C VUS r.spl? p.? - g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - TseI+;BanI- 0 - Marc Tischkowitz
-/-? 1i c.48+27G>T benign r.(=) p.(=) - g.23652404C>A g.23641083C>A - - PALB2_010014 - PubMed: Tischkowitz 2012 ClinVar-126751 rs515726119 Germline - - DdeI+;HgaI- 0 - Marc Tischkowitz
-/-? 1i c.49-173G>T benign r.(=) p.(=) - g.23649623C>A g.23638302C>A IVS1-173G>T - PALB2_010015 - PubMed: Sauty de Chalon 2010 ClinVar-126752 rs515726120 Germline - - HpyCH4V- 0 - Marc Tischkowitz
?/-? 1i c.49-54C>T VUS r.(=) p.(=) - g.23649504G>A g.23638183G>A - - PALB2_010209 - PubMed: Wong-Brown 2013 ClinVar-126753 rs515726121 Unknown - - - 0 - Marc Tischkowitz
+?/+? 1i c.49-2A>T likely pathogenic r.spl? p.? - g.23649452T>A g.23638131T>A - - PALB2_010325 - PubMed: Couch 2015 - rs786203245 Unknown - - - 0 - Marc Tischkowitz
+/. - c.49-1del pathogenic r.spl p.? - g.23649451del - - - PALB2_010557 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - 0 - Yukihide Momozawa
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del pathogenic r.spl? p.? FA g.(23637719_23640524)_(23649451_23652430)del - g.23649450_23640525del - PALB2_000001 inherited from paternal allele (MLPA of EUFA1341 and father suggest deletion 1 copy exons 2-6) PubMed: Xia 2007 - - Unknown ? - - 0 - Arleen D. Auerbach
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del pathogenic r.spl? p.? - g.(23637719_23640524)_(23649451_23652430)del - c.49-?_2586+?del - PALB2_000001 - PubMed: Xia 2007 - - Germline - - AccI- 0 - Marc Tischkowitz
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del pathogenic r.spl? p.? - g.(23637719_23640524)_(23649451_23652430)del - c.49-?_2586+?del - PALB2_000001 - PubMed: Xia 2007; contributed by Fanconi Anemia database - - Germline - - - 0 - LOVD-team, but with Curator vacancy
-?/-? 2 c.53A>G likely benign r.(?) p.(Lys18Arg) - g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Tischkowitz2008 ClinVar-126758 rs138789658 Germline - - - 0 - Marc Tischkowitz
-?/-? 2 c.53A>G likely benign r.(?) p.(Lys18Arg) - g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Ding2011 ClinVar-126758 rs138789658 Germline - - - 0 - Marc Tischkowitz
-?/-? 2 c.53A>G likely benign r.(?) p.(Lys18Arg) - g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Zheng 2012 ClinVar-126758 rs138789658 Germline - - - 0 - Marc Tischkowitz
-?/-? 2 c.53A>G likely benign r.(?) p.(Lys18Arg) - g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Bogdanova 2011 ClinVar-126758 rs138789658 Germline - - - 0 - Marc Tischkowitz
./. - c.53A>G - r.(?) p.(Lys18Arg) - g.23649446T>C g.23638125T>C - - PALB2_010016 - Thibodeau lab (Mayo Clinic) ClinVar-126758 rs138789658 Germline - - - 0 - Melissa DeRycke
-/. - c.53A>G benign r.(?) p.(Lys18Arg) - g.23649446T>C - PALB2:c.53A>G (K18R) - PALB2_010016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.62T>C VUS r.(?) p.Leu21Ser - g.23649437A>G - - - PALB2_010574 ACMG grading: PP3,BP2; BC at age 33y, mother bilateral BC at age 43y, co-occurrence with truncating variant BRCA2 c.194del p.(Pro65Hisfs*15) - - - Germline - - - 0 - Andreas Laner
?/. 1 c.65C>T VUS r.(?) p.(Ala22Val) - g.23649434G>A - - - PALB2_010555 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
+/+ 2 c.72del pathogenic r.(?) p.(Arg26Glyfs*7) - g.23649427del g.23638106del 72delG - PALB2_010017 - PubMed: Peterlongo 2011 ClinVar-126766 rs180177142 Germline - - Hpy188III- 0 - Marc Tischkowitz
+/+ 2 c.72del pathogenic r.(?) p.(Arg26Glyfs*7) - g.23649427del g.23638106del 73delG - PALB2_010017 - PubMed: Catucci 2014 ClinVar-126766 rs180177142 Germline - - - 0 - Marc Tischkowitz
+/+ 2 c.72del pathogenic r.(?) p.(Arg26Glyfs*7) - g.23649427del g.23638106del - - PALB2_010017 2 families PubMed: Antoniou 2014 ClinVar-126766 rs180177142 Germline - - - 0 - Marc Tischkowitz
?/. 1 c.73A>C VUS r.(?) p.(Lys25Gln) - g.23649426T>G - - - PALB2_010554 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
+/+ 2 c.73A>T pathogenic r.(?) p.(Lys25*) - g.23649426T>A g.23638105T>A - - PALB2_010245 - PubMed: Janatova 2013 - - Germline - - - 0 - Marc Tischkowitz
+/. - c.78_79del pathogenic r.(?) p.(Glu27Ilefs*15) - g.23649420_23649421del - PALB2:c.78_79delGG (E27Ifs*15) - PALB2_010366 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/? 2 c.83A>G VUS r.(?) p.(Tyr28Cys) - g.23649416T>C g.23638095T>C - - PALB2_010018 - PubMed: Ding 2011 ClinVar-126774 rs515726129 Germline - - TseI+ 0 - Marc Tischkowitz
?/. 1 c.86G>C VUS r.(?) p.(Ser29Thr) - g.23649413C>G - - - PALB2_010553 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. 1 c.86G>C VUS r.(?) p.(Ser29Thr) - g.23649413C>G - - - PALB2_010553 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls - 0 - Yukihide Momozawa
?/. - c.86G>C VUS r.(?) p.(Ser29Thr) - g.23649413C>G - - - PALB2_010553 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - 0 - Yukihide Momozawa
?/? 2 c.90G>T VUS r.(?) p.(Lys30Asn) - g.23649409C>A g.23638088C>A - - PALB2_010177 - PubMed: Teo 2013 ClinVar-126779 rs515726130 Unknown - - - 0 - Marc Tischkowitz
+?/+? 2 c.93dup likely pathogenic r.(?) p.(Leu32Thrfs*11) - g.23649406dup g.23638085dup c.93dupA - PALB2_010324 - PubMed: Couch 2015 - rs864622498 Unknown - - - 0 - Marc Tischkowitz
?/? 2 c.94C>G VUS r.(?) p.(Leu32Val) - g.23649405G>C g.23638084G>C - - PALB2_010178 - PubMed: Teo 2013 ClinVar-126781 rs151316635 Unknown - - - 0 - Marc Tischkowitz
?/? 2 c.94C>G VUS r.(?) p.(Leu32Val) - g.23649405G>C g.23638084G>C - - PALB2_010178 - PubMed: Tung 2014 ClinVar-126781 rs151316635 Unknown - - - 0 - Marc Tischkowitz
./. - c.94C>G - r.(?) p.(Leu32Val) - g.23649405G>C g.23638084G>C - - PALB2_010178 - Thibodeau lab (Mayo Clinic) ClinVar-126781 rs151316635 Germline - - - 0 - Melissa DeRycke
?/. 1 c.100C>T VUS r.(?) p.(Arg34Cys) - g.23649399G>A - - - PALB2_010551 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs373483056 Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. - c.101G>T VUS r.(?) p.(Arg34Leu) - g.23649398C>A - - - PALB2_010552 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs144944814 Germline - 1/12490 controls - 0 - Yukihide Momozawa
-/-? 2i c.108+59C>G benign r.(=) p.(=) - g.23649332G>C g.23638011G>C c.109-59C>G - PALB2_010019 - PubMed: Tischkowitz 2012 ClinVar-126588 - Germline - - HincII+ 0 - Marc Tischkowitz
+?/. - c.109-12T>A likely pathogenic r.(?) p.? - g.23649285A>T - - - PALB2_010573 ACMG grading: PP3,PP5,PS3; lobular, ER receptor positve BC bilateral at age 55y, mother BC at age 70y, grandmother maternal side BC at age 70y, aunt paternal side BC at age 70y; Splice prediction: MaxEntScan and SSF suggest loss of splice acceptor side as shown in publication by Kraus et al., 2016 (mRNA study) Kraus et al.; 2016. Int 1: 95 Table 2. Predicted p.Arg37Serfs*9. functional (cofirmed by mRNA RT-PCR) - rs774949203 Germline - - - 0 - Andreas Laner
-?/-? 2i c.109-5T>C likely benign r.spl? p.(?) - g.23649278A>G g.23637957A>G - - PALB2_010275 - PubMed: Tung 2014 - - Unknown - - - 0 - Marc Tischkowitz
?/. 1 c.109C>T VUS r.(?) p.(Arg37Cys) - g.23649273G>A - - - PALB2_010550 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs200048921 Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/? 3 c.110G>A VUS r.(?) p.(Arg37His) - g.23649272C>T g.23637951C>T - - PALB2_010020 - PubMed: Blanco 2013 ClinVar-126590 rs202194596 Germline - - FatI+;BaeGI- 0 - Marc Tischkowitz
?/? 3 c.110G>A VUS r.(?) p.(Arg37His) - g.23649272C>T g.23637951C>T - - PALB2_010020 - PubMed: Tischkowitz 2012 ClinVar-126590 rs202194596 Germline - - FatI+;BaeGI- 0 - Marc Tischkowitz
./. - c.110G>A - r.(?) p.(Arg37His) - g.23649272C>T g.23637951C>T - - PALB2_010020 - Thibodeau lab (Mayo Clinic) ClinVar-126590 rs202194596 Germline - - - 0 - Melissa DeRycke
?/. 1 c.119G>C VUS r.(?) p.(Arg40Thr) - g.23649263C>G - - - PALB2_010549 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
+?/? 3 c.123del likely pathogenic r.(?) p.(Glu42Lysfs*11) - g.23649259del g.23637938del c.123delT - PALB2_010323 - PubMed: Couch 2015 - - Unknown - - AluI-, CviKI_1- 0 - Marc Tischkowitz
-?/? 3 c.127A>G likely benign r.(?) p.(Lys43Glu) - g.23649255T>C g.23637934T>C - - PALB2_010277 - PubMed: Tung 2014 - rs765125459 Unknown - - AcuI+, EarI+, MboII+ 0 - Marc Tischkowitz
?/. 1 c.132T>A VUS r.(?) p.(=) - g.23649250A>T - - - PALB2_010547 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - Yukihide Momozawa
-?/? 3 c.155T>C likely benign r.(?) p.(Val52Ala) - g.23649227A>G g.23637906A>G - - PALB2_010256 - PubMed: Kanchi 2014 - rs373970237 Unknown - - HpyCH4III- 0 - Marc Tischkowitz
+/+ 3 c.156del pathogenic r.(?) p.(Glu53Lysfs*15) - g.23649226del g.23637905del - - PALB2_010296 1 families PubMed: Antoniou 2014 - rs587776406 Germline - - BtsIMutI+, TspRI+ 0 - Marc Tischkowitz
+?/+ 3 c.156del likely pathogenic r.(?) p.(Glu53Lysfs*15) - g.23649226del g.23637905del c.156delA - PALB2_010296 - PubMed: Couch 2015 - rs587776406 Unknown - - BtsIMutI+, TspRI+ 0 - Marc Tischkowitz
+/+ 3 c.172_175del pathogenic r.(?) p.(Gln60Argfs*7) - g.23649207_23649210del g.23637886_23637889del c.172_175delTTGT - PALB2_010002 - PubMed: Prokofyeva2012 ClinVar-126623 rs180177143 Germline - - - 0 - Marc Tischkowitz
+/+ 3 c.172_175del pathogenic r.(?) p.(Gln60Argfs*7) - g.23649207_23649210del g.23637886_23637889del c.172_175delTTGT - PALB2_010002 - PubMed: Hellebrand2011 ClinVar-126623 rs180177143 Germline - - - 0 - Marc Tischkowitz
+/+ 3 c.172_175del pathogenic r.(?) p.(Gln60Argfs*7) - g.23649207_23649210del g.23637886_23637889del c.172_175delTTGT - PALB2_010002 - PubMed: Casadei 2011 ClinVar-126623 rs180177143 Germline - - - 0 - Marc Tischkowitz
+/+ 3 c.172_175del pathogenic r.(?) p.(Gln60Argfs*7) - g.23649207_23649210del g.23637886_23637889del c.172_175delTTGT - PALB2_010002 - PubMed: Jones 2009 ClinVar-126623 rs180177143 Germline - - - 0 - Marc Tischkowitz
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