Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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     
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3599_3600del r.(?) p.(fs) FA FANCD1_00040 Parent #2 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Meyer 2005 - - Unknown ? - - - - DNA SEQ - - FANCD1 - PubMed: Meyer 2005 - M no - - - - - - 1 Arleen D. Auerbach
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 BIC - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P15-2222 - 1 Arjen Mensenkamp
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-2632 - 1 Arjen Mensenkamp
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P13-5120 - 1 Arjen Mensenkamp
+/+ 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic (dominant) g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA SEQ - - cancer, prostate ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.3599_3600del r.(?) p.(Cys1200Ter) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del BRCA2(NM_000059.3):c.3599_3600del (p.(Cys1200*)), BRCA2(NM_000059.3):c.3599_3600delGT (p.C1200*), BRCA2(NM_000059.4):c.3599_3600delGT (p.C1200*) - BRCA2_001069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Unknown - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Czech Republic white - - - - 2 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France unknown - - - - 2 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Korea Asian - - - - 3 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Malaysia Asian - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden unknown - - - - 1 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United Kingdom (Great Britain) white - - - - 5 Johan den Dunnen
+/. 11 c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United States white - - - - 5 Johan den Dunnen
+/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359391 Germline - 2/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 2 Yukihide Momozawa
+/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - PubMed: Bhaskaran 2019 - (refs 79) - rs80359391 Germline - - - - - DNA SEQ - - cancer, breast BRCA1-var176 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - pathogenic (dominant) g.32912091_32912092del g.32337954_32337955del 3599_3600delGT - BRCA2_001069 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
?/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - VUS g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 classified as class 3, 4 or 5 in 7/12850 targeted tests and 2/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 9 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 9 UK Variant Sharing Initiative
?/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - NA g.32912091_32912092del - chr13_32912089_CTG_C - BRCA2_001069 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 6/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 6 BRIDGES consortium
?/. - c.3599_3600del r.(?) p.(Cys1200*) - Parent #1 - NA g.32912091_32912092del - chr13_32912089_CTG_C - BRCA2_001069 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 6/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 6 BRIDGES consortium
+/. - c.3599_3600del r.(?) p.(Cys1200Ter) - Parent #1 ACMG pathogenic (dominant) g.32912091_32912092del g.32337954_32337955del c.3599_3600delGT - BRCA2_001069 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat8 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3599_3600del r.(?) p.(Cys1200Ter) - Unknown - pathogenic g.32912091_32912092del - BRCA2(NM_000059.3):c.3599_3600del (p.(Cys1200*)), BRCA2(NM_000059.3):c.3599_3600delGT (p.C1200*), BRCA2(NM_000059.4):c.3599_3600delGT (p.C1200*) - BRCA2_001069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3599_3600del r.(?) p.(Cys1200Ter) - Unknown - pathogenic g.32912091_32912092del - BRCA2(NM_000059.3):c.3599_3600del (p.(Cys1200*)), BRCA2(NM_000059.3):c.3599_3600delGT (p.C1200*), BRCA2(NM_000059.4):c.3599_3600delGT (p.C1200*) - BRCA2_001069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3599_3600del r.(?) p.(Cys1200Ter) - Unknown - pathogenic g.32912091_32912092del - BRCA2(NM_000059.3):c.3599_3600del (p.(Cys1200*)), BRCA2(NM_000059.3):c.3599_3600delGT (p.C1200*), BRCA2(NM_000059.4):c.3599_3600delGT (p.C1200*) - BRCA2_001069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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