Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 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_007294.3 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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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     
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.66dup r.(?) p.(Glu23fs) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup 185dupA (23 Stop 41) - BRCA1_001098 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup 185dupA (23 Stop 41) - BRCA1_001098 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown kConFab pathogenic g.41276048dup g.43124031dup 185_186 ins A (STOP 40) - BRCA1_001098 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup 66dupA - BRCA1_001098 - - - - Unknown - - - - - DNA SEQ-NG - - cancer, breast - - - - - - - - - - - 1 Katrien Storm
+/+ 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic (dominant) g.41276048dup g.43124031dup - - BRCA1_001098 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 2 c.66dup r.(?) p.(Glu23ArgfsTer18) - Unknown - pathogenic g.41276048dup g.43124031dup BRCA1(NM_007294.3):c.66dup (p.(Glu23Argfs*18)), BRCA1(NM_007294.3):c.66dupA (p.E23Rfs*18), BRCA1(NM_007294.4):c.66dupA (p.E23Rfs*18) - BRCA1_001098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.66dup r.(?) p.(Glu23ArgfsTer18) - Unknown - pathogenic g.41276048dup g.43124031dup BRCA1(NM_007294.3):c.66dup (p.(Glu23Argfs*18)), BRCA1(NM_007294.3):c.66dupA (p.E23Rfs*18), BRCA1(NM_007294.4):c.66dupA (p.E23Rfs*18) - BRCA1_001098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Unknown - pathogenic g.41276048dup g.43124031dup 66dupA - BRCA1_001098 - 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
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - 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
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Germany unknown - - - - 7 Johan den Dunnen
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hong Kong Asian - - - - 1 Johan den Dunnen
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Italy white - - - - 4 Johan den Dunnen
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Malaysia Asian - - - - 2 Johan den Dunnen
+/. 2 c.66dup r.(?) p.(Glu23Argfs*18) - Parent #1 - pathogenic g.41276048dup g.43124031dup - - BRCA1_001098 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Pakistan Asian - - - - 6 Johan den Dunnen
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