Unique variants in the BRIP1 gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_032043.2 transcript reference sequence.

765 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

Owner     
-/. 1 - c.-205G>A r.(?) p.(=) - - benign g.59940819C>T g.61863458C>T BRIP1(NM_032043.2):c.-205G>A - BRIP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-31+1G>A r.spl? p.? - - NA g.59940644C>T - chr17_59940644_C_T - BRIP1_000763 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/. 1 - c.-31+12G>A r.(=) p.(=) - - benign g.59940633C>T g.61863272C>T BRIP1(NM_032043.2):c.-31+12G>A - BRIP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.-30-3T>C r.spl? p.? - - likely benign g.59938933A>G g.61861572A>G BRIP1(NM_032043.2):c.-30-3T>C - BRIP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.-26G>C r.(?) p.(=) - - likely benign g.59938926C>G - - - BRIP1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1A>G r.? p.? - - NA g.59938900T>C - chr17_59938900_T_C - BRIP1_000762 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 9/60466 cases - - - BRIDGES consortium
?/. 2 - c.10A>G r.(?) p.(Met4Val) - - NA g.59938891T>C - chr17_59938891_T_C - BRIP1_000761 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.15G>A r.(?) p.(Trp5*) - - NA g.59938886C>T - chr17_59938886_C_T - BRIP1_000760 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.19G>C r.(?) p.(Glu7Gln) - - NA g.59938882C>G - chr17_59938882_C_G - BRIP1_000759 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.24T>G r.(?) p.(Tyr8*) - - pathogenic g.59938877A>C g.61861516A>C - - BRIP1_000179 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - - - Yukihide Momozawa
-?/., ?/. 3 - c.36G>T r.(?) p.(Gly12=) - - likely benign, VUS g.59938865C>A g.61861504C>A BRIP1(NM_032043.2):c.36G>T (p.G12=) - BRIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.50T>G r.(?) p.(Phe17Cys) - - NA g.59938851A>C - chr17_59938851_A_C - BRIP1_000758 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.56A>G r.(?) p.(Tyr19Cys) - - NA g.59938845T>C - chr17_59938845_T_C - BRIP1_000757 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.57T>A r.(?) p.(Tyr19*) - - NA g.59938844A>T - chr17_59938844_A_T - BRIP1_000756 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-/. 1 - c.57T>C r.(=) p.(=) - - benign g.59938844A>G g.61861483A>G - - BRIP1_000178 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 5/12365 controls - - - Yukihide Momozawa
?/. 1 - c.62C>T r.(?) p.(Ala21Val) - - NA g.59938839G>A - chr17_59938839_G_A - BRIP1_000755 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.64T>C r.(?) p.(Tyr22His) - - NA g.59938837A>G - chr17_59938837_A_G - BRIP1_000754 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.66C>G r.(?) p.(Tyr22*) - - NA g.59938835G>C - chr17_59938835_G_C - BRIP1_000753 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.71dup r.(?) p.(Gln25Thrfs*44) - - NA g.59938830dup - chr17_59938829_T_TG - BRIP1_000752 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.76C>G r.(?) p.(Leu26Val) - - NA g.59938825G>C - chr17_59938825_G_C - BRIP1_000751 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.78dup r.(?) p.(Ala27Cysfs*42) - - NA g.59938824dup - chr17_59938822_C_CA - BRIP1_000750 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.82A>C r.(?) p.(Met28Leu) - - NA g.59938819T>G - chr17_59938819_T_G - BRIP1_000749 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.87G>T r.(?) p.(Met29Ile) - - VUS g.59938814C>A g.61861453C>A - - BRIP1_000177 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 11/12364 controls - - - Yukihide Momozawa
-/. 1 - c.93+72T>G r.(=) p.(=) - - benign g.59938736A>C g.61861375A>C BRIP1(NM_032043.2):c.93+72T>G - BRIP1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. 3 - c.94-18T>G r.(=) p.(=) - - benign g.59937286A>C g.61859925A>C BRIP1(NM_032043.2):c.94-18T>G - BRIP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_NKI
?/. 2 - c.110A>G r.(?) p.(Asn37Ser) - - NA g.59937252T>C - chr17_59937252_T_C - BRIP1_000748 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 1 - c.115A>G r.(?) p.(Lys39Glu) - - NA g.59937247T>C - chr17_59937247_T_C - BRIP1_000747 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.128_131del r.(?) p.(Leu43TrpfsTer11) - - pathogenic g.59937236_59937239del g.61859875_61859878del BRIP1(NM_032043.2):c.128_131delTGTT (p.L43Wfs*11) - BRIP1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.133G>T r.(?) p.(Glu45*) - - NA g.59937229C>A - chr17_59937229_C_A - BRIP1_000746 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.139C>A r.(?) p.(Pro47Thr) - - NA g.59937223G>T - chr17_59937223_G_T - BRIP1_000745 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 7 - c.139C>G r.(?) p.(Pro47Ala) - - NA, VUS g.59937223G>C g.61859862G>C BRIP1(NM_032043.2):c.139C>G (p.(Pro47Ala), p.P47A), chr17_59937223_G_C - BRIP1_000033 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 51/53461 controls, 52/60466 cases - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_NKI, BRIDGES consortium
?/. 1 - c.152G>A r.(?) p.(Gly51Glu) - - NA g.59937210C>T - chr17_59937210_C_T - BRIP1_000744 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.155A>G r.(?) p.(Lys52Arg) - - NA g.59937207T>C - chr17_59937207_T_C - BRIP1_000743 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.169C>T r.(?) p.(Leu57Phe) - - NA g.59937193G>A - chr17_59937193_G_A - BRIP1_000742 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.186A>G r.(?) p.(Ala62=) - - likely benign g.59937176T>C - - - BRIP1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.188G>C r.(?) p.(Trp63Ser) - - NA g.59937174C>G - chr17_59937174_C_G - BRIP1_000741 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.189G>T r.(?) p.(Trp63Cys) - - NA g.59937173C>A - chr17_59937173_C_A - BRIP1_000740 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.193C>T r.(?) p.(Gln65*) - - NA g.59937169G>A - chr17_59937169_G_A - BRIP1_000739 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.196delinsCTC r.(?) p.(Ser66Leufs*12) - - NA g.59937166delinsGAG - chr17_59937166_A_GAG - BRIP1_000738 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.200T>C r.(?) p.(Leu67Pro) - - NA g.59937162A>G - chr17_59937162_A_G - BRIP1_000737 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.205G>A r.(?) p.(Gly69Arg) - - NA g.59937157C>T - chr17_59937157_C_T - BRIP1_000736 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
+/. 4 3i c.205+5G>T r.(?), r.(spl?) p.(Gly69fs*8) FA - pathogenic g.59937152C>A g.61859791C>A - - BRIP1_000004 - PubMed: Levitus 2005 - - Unknown ? - - - - Arleen D. Auerbach
-/. 1 - c.206-21T>C r.(=) p.(=) - - benign g.59934613A>G - BRIP1(NM_032043.2):c.206-21T>C - BRIP1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
+?/. 1 - c.206-2A>G r.(?) p.(?) - ACMG likely pathogenic g.59934594T>C g.61857233T>C - - BRIP1_000193 1 more item - - rs786203700 Germline - - - - - Andreas Laner
?/. 2 - c.206-1G>T r.spl? p.? - - NA g.59934593C>A - chr17_59934593_C_A - BRIP1_000735 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.206G>C r.(?) p.(Gly69Ala) - - VUS g.59934592C>G - BRIP1(NM_032043.2):c.206G>C (p.G69A) - BRIP1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 1 - c.208A>T r.(?) p.(Lys70*) - - NA g.59934590T>A - chr17_59934590_T_A - BRIP1_000734 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.209A>G r.(?) p.(Lys70Arg) - - NA g.59934589T>C - chr17_59934589_T_C - BRIP1_000733 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.215C>T r.(?) p.(Ala72Val) - - NA g.59934583G>A - chr17_59934583_G_A - BRIP1_000732 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.218A>G r.(?) p.(Asp73Gly) - - NA g.59934580T>C - chr17_59934580_T_C - BRIP1_000731 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/. 1 - c.225C>T r.(=) p.(=) - - benign g.59934573G>A g.61857212G>A - - BRIP1_000176 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs186802750 Germline - 16/12365 controls - - - Yukihide Momozawa
?/. 1 - c.235A>G r.(?) p.(Lys79Glu) - - NA g.59934563T>C - chr17_59934563_T_C - BRIP1_000730 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.243A>G r.(?) p.(Glu81=) - - VUS g.59934555T>C g.61857194T>C - - BRIP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 - c.254C>T r.(?) p.(Ser85Leu) - - likely benign, NA g.59934544G>A g.61857183G>A chr17_59934544_G_A - BRIP1_000209 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 3/53461 controls, 3/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 1 - c.257G>A r.(?) p.(Cys86Tyr) - - NA g.59934541C>T - chr17_59934541_C_T - BRIP1_000729 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.259T>A r.(?) p.(Cys87Ser) - - NA g.59934539A>T - chr17_59934539_A_T - BRIP1_000728 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.260G>C r.(?) p.(Cys87Ser) - - NA g.59934538C>G - chr17_59934538_C_G - BRIP1_000727 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - BRIDGES consortium
?/. 1 - c.262_264del r.(?) p.(Cys88del) - - VUS g.59934540_59934542del g.61857179_61857181del g.59934534_59934536del - BRIP1_000093 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs587781388 Germline - 1/12366 controls - - - Yukihide Momozawa
?/. 1 - c.270C>A r.(?) p.(Cys90*) - - NA g.59934528G>T - chr17_59934528_G_T - BRIP1_000726 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.274T>C r.(?) p.(Ser92Pro) - - NA g.59934524A>G - chr17_59934524_A_G - BRIP1_000725 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.277A>G r.(?) p.(Lys93Glu) - - NA g.59934521T>C - chr17_59934521_T_C - BRIP1_000724 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.290_293del r.(?) p.(Asn97Metfs*3) - - NA g.59934509_59934512del - chr17_59934504_ATTGT_A - BRIP1_000723 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.287C>T r.(?) p.(Thr96Ile) - - VUS g.59934511G>A g.61857150G>A - - BRIP1_000175 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - - - Yukihide Momozawa
?/. 2 - c.293A>G r.(?) p.(Asn98Ser) - - NA g.59934505T>C - chr17_59934505_T_C - BRIP1_000722 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.299T>C r.(?) p.(Met100Thr) - - NA g.59934499A>G - chr17_59934499_A_G - BRIP1_000721 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.305A>G r.(?) p.(Gln102Arg) - - NA g.59934493T>C - chr17_59934493_T_C - BRIP1_000720 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 2 - c.316C>T r.(?) p.(Arg106Cys) - - NA g.59934482G>A - chr17_59934482_G_A - BRIP1_000719 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 12/53461 controls, 6/60466 cases - - - BRIDGES consortium
?/. 2 - c.317G>A r.(?) p.(Arg106His) - - NA g.59934481C>T - chr17_59934481_C_T - BRIP1_000718 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.321_337del r.(?) p.(Phe108Thrfs*4) - - NA g.59934463_59934479del - chr17_59934460_GTGCTTGGATAGTTGAAA_G - BRIP1_000714 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.320A>C r.(?) p.(His107Pro) - - NA g.59934478T>G - chr17_59934478_T_G - BRIP1_000717 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.326A>G r.(?) p.(Asn109Ser) - - NA g.59934472T>C - chr17_59934472_T_C - BRIP1_000716 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.331C>G r.(?) p.(Pro111Ala) - - NA g.59934467G>C - chr17_59934467_G_C - BRIP1_000715 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.338C>T r.(?) p.(Thr113Ile) - - NA g.59934460G>A - chr17_59934460_G_A - BRIP1_000713 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - BRIDGES consortium
?/. 1 - c.341C>A r.(?) p.(Pro114Gln) - - NA g.59934457G>T - chr17_59934457_G_T - BRIP1_000712 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.347C>G r.(?) p.(Ser116Cys) - - NA g.59934451G>C - chr17_59934451_G_C - BRIP1_000711 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
+/. 1 - c.349G>T r.(?) p.(Glu117*) - - pathogenic g.59934449C>A g.61857088C>A - - BRIP1_000200 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786203890 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. 3 - c.356A>G r.(?) p.(Asn119Ser) - - NA, VUS g.59934442T>C - chr17_59934442_T_C - BRIP1_000244 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline, Unknown - 1/60466 cases, 2/53461 controls - - - Gunnar Schmidt, BRIDGES consortium
?/. 1 - c.359G>A r.(?) p.(Gly120Asp) - - NA g.59934439C>T - chr17_59934439_C_T - BRIP1_000710 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.361A>G r.(?) p.(Thr121Ala) - - NA g.59934437T>C - chr17_59934437_T_C - BRIP1_000709 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.362C>T r.(?) p.(Thr121Ile) - - NA g.59934436G>A - chr17_59934436_G_A - BRIP1_000708 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.370A>C r.(?) p.(Thr124Pro) - - NA g.59934428T>G - chr17_59934428_T_G - BRIP1_000707 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
-?/., ?/. 3 - c.370A>G r.(?) p.(Thr124Ala) - - likely benign, NA g.59934428T>C - chr17_59934428_T_C - BRIP1_000240 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 2/53461 controls, 6/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 1 - c.379G>A r.(?) p.(Asp127Asn) - - NA g.59934419C>T - chr17_59934419_C_T - BRIP1_000706 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/., -?/. 2 - c.380-28G>A r.(=) p.(=) - - benign, likely benign g.59926645C>T g.61849284C>T BRIP1(NM_032043.2):c.380-28G>A - BRIP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_NKI
-?/. 1 - c.380-17T>A r.(=) p.(=) - - likely benign g.59926634A>T g.61849273A>T - - BRIP1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.380-1G>T r.spl? p.? - - NA g.59926618C>A - chr17_59926618_C_A - BRIP1_000705 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.385C>T r.(?) p.(Pro129Ser) - - NA g.59926612G>A - chr17_59926612_G_A - BRIP1_000704 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.386C>T r.(?) p.(Pro129Leu) - - NA g.59926611G>A - chr17_59926611_G_A - BRIP1_000703 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.394dup r.(?) p.(Thr132Asnfs*10) - - NA g.59926608dup - chr17_59926602_G_GT - BRIP1_000702 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.394A>T r.(?) p.(Thr132Ser) - - NA g.59926603T>A - chr17_59926603_T_A - BRIP1_000701 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 2 - c.395C>A r.(?) p.(Thr132Asn) - - NA g.59926602G>T - chr17_59926602_G_T - BRIP1_000700 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.396del r.(?) p.(Thr133Leufs*24) - - NA g.59926602del - chr17_59926600_TG_T - BRIP1_000699 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.400C>A r.(?) p.(Leu134Met) - - NA, VUS g.59926597G>T - BRIP1(NM_032043.2):c.400C>A (p.L134M), chr17_59926597_G_T - BRIP1_000239 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 2/53461 controls - - - VKGL-NL_NKI, BRIDGES consortium
?/. 1 - c.404C>T r.(?) p.(Ala135Val) - - NA g.59926593G>A - chr17_59926593_G_A - BRIP1_000698 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.406G>A r.(?) p.(Ala136Thr) - - NA g.59926591C>T - chr17_59926591_C_T - BRIP1_000697 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-/. 1 - c.408A>G r.(=) p.(=) - - benign g.59926589T>C g.61849228T>C - - BRIP1_000174 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - - - Yukihide Momozawa
?/. 3 - c.409A>G r.(?) p.(Lys137Glu) - - NA, VUS g.59926588T>C g.61849227T>C chr17_59926588_T_C - BRIP1_000173 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/53461 controls, 1/60466 cases, 2/12365 controls - - - Yukihide Momozawa, BRIDGES consortium
?/. 1 - c.410A>G r.(?) p.(Lys137Arg) - - NA g.59926587T>C - chr17_59926587_T_C - BRIP1_000696 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.413T>C r.(?) p.(Leu138Ser) - - NA g.59926584A>G - chr17_59926584_A_G - BRIP1_000695 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.415T>G r.(?) p.(Ser139Ala) - - NA g.59926582A>C - chr17_59926582_A_C - BRIP1_000694 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 5/60466 cases - - - BRIDGES consortium
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