All variants in the BARD1 gene

Information The variants shown are described using the NM_000465.2 transcript reference sequence.

940 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
?/. - c.-95C>G r.(?) p.(=) - VUS g.215674388G>C - BARD1(NM_000465.2):c.-95C>G (p.(=)) - ABCA12_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-83C>T r.(?) p.(=) - likely benign g.215674376G>A - BARD1(NM_000465.2):c.-83C>T (p.(=)) - ABCA12_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-78G>A r.(?) p.(=) - benign g.215674371C>T - BARD1(NM_000465.4):c.-78G>A - ABCA12_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.-48T>C r.(?) p.(=) - benign g.215674341A>G - BARD1(NM_000465.4):c.-48T>C - ABCA12_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.-30G>C r.(?) p.(=) - benign g.215674323C>G - BARD1(NM_000465.4):c.-30G>C - ABCA12_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.-2C>A r.(?) p.(=) - likely benign g.215674295G>T - - - ABCA12_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1i_11_ c.(158+1_159-1)_*138{0} r.0? p.0? ACMG pathogenic g.(?_215593262)_(215661842_215674135)del - - - BARD1_000499 - - - - Germline - - - - - Ana Osorio
+?/. 9i_11_ c.(1903+1_1904-1)_*138{0} r.? p.0? - likely pathogenic g.(?_215593262)_(215609790_215595233)del - - - BARD1_000502 - - - - Germline - - - - - Ana Osorio
+/. _1_1i c.-135_(158+1_159-1){0} r.0? p.0? ACMG pathogenic g.(215661842_215674135)_(215674428_?)del - (-135_-1)(158+1_159-1)del - BARD1_000500 - - - - Germline - - - - - Ana Osorio
+/. _1_11_ c.-135_*{0} r.0 p.0 ACMG pathogenic g.( ?_215591897)_(215676132_?)del - whole gene deletion - BARD1_000503 - - - - Germline - - - - - Ana Osorio
+/. - c.3G>A r.(?) p.(Met1?) - pathogenic g.215674291C>T g.214809567C>T - - BARD1_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587780031 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. - c.19C>T r.(?) p.(Pro7Ser) - NA g.215674275G>A - chr2_215674275_G_A - BARD1_000496 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
-?/. - c.33G>T r.(?) p.(Gln11His) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.33G>T r.(?) p.(Gln11His) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.33G>T r.(?) p.(Gln11His) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.33G>T r.(33g>u) p.(Gln11His) - VUS g.215674261C>A - - - ABCA12_000090 - - - - Germline - - - - - Ana Osorio
-/. - c.33G>T r.(?) p.(Gln11His) - benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.33G>T r.(?) p.(Gln11His) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.33G>T r.(?) p.(Gln11His) - benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. - c.47C>G r.(?) p.(Ser16Cys) - NA g.215674247G>C - chr2_215674247_G_C - BARD1_000495 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.54C>G r.(?) p.(Asn18Lys) - VUS g.215674240G>C - - - ABCA12_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.57G>C r.(?) p.(Glu19Asp) - NA g.215674237C>G - chr2_215674237_C_G - BARD1_000494 not in 53461 controls; 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 - 4/60466 cases - - - BRIDGES consortium
?/. - c.57G>T r.(?) p.(Glu19Asp) - NA g.215674237C>A - chr2_215674237_C_A - BARD1_000493 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.57G>T r.(?) p.(Glu19Asp) - VUS g.215674237C>A - BARD1(NM_000465.4):c.57G>T (p.E19D) - BARD1_000493 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.69_70delins[46_69;T] r.(?) p.(Ala25GlyfsTer41) - pathogenic g.215674224_215674225delins[A;215674225_215674248] g.214809500_214809501delins[A;214809501_214809524] 69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT - BARD1_000585 - Yuen (unpublished) - - Germline - - - - - Jeanette Yuen
+/. - c.69_70delins[46_69;T] r.(?) p.(Ala25GlyfsTer41) - pathogenic g.215674224_215674225delins[A;215674225_215674248] g.214809500_214809501delins[A;214809501_214809524] 69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT - BARD1_000585 - Yuen (unpublished) - - Germline - - - - - Jeanette Yuen
-/. - c.70C>T r.(?) p.(Pro24Ser) - benign g.215674224G>A - BARD1(NM_000465.4):c.70C>T (p.P24S) - ABCA12_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.70C>T r.(?) p.(Pro24Ser) - benign g.215674224G>A - BARD1(NM_000465.4):c.70C>T (p.P24S) - ABCA12_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.70C>T r.(?) p.(Pro24Ser) - benign g.215674224G>A - BARD1(NM_000465.4):c.70C>T (p.P24S) - ABCA12_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. - c.79G>C r.(?) p.(Glu27Gln) - NA g.215674215C>G - chr2_215674215_C_G - BARD1_000492 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.80A>C r.(?) p.(Glu27Ala) - NA g.215674214T>G - chr2_215674214_T_G - BARD1_000491 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
-?/. - c.82C>A r.(?) p.(Pro28Thr) - likely benign g.215674212G>T - BARD1(NM_000465.4):c.82C>A (p.P28T) - ABCA12_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.82C>A r.(?) p.(Pro28Thr) - VUS g.215674212G>T - BARD1(NM_000465.4):c.82C>A (p.P28T) - ABCA12_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.90T>A r.(?) p.(=) - likely benign g.215674204A>T - - - ABCA12_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.91C>T r.(?) p.(Arg31Cys) - NA g.215674203G>A - chr2_215674203_G_A - BARD1_000490 not in 53461 controls; 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 - 2/60466 cases - - - BRIDGES consortium
-?/. - c.93C>G r.(?) p.(Arg31=) - likely benign g.215674201G>C - BARD1(NM_000465.4):c.93C>G (p.R31=) - ABCA12_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.95G>A r.(?) p.(Gly32Asp) - NA g.215674199C>T - chr2_215674199_C_T - BARD1_000489 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.97G>C r.(?) p.(Ala33Pro) - NA g.215674197C>G - chr2_215674197_C_G - BARD1_000488 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 - 3/60466 cases - - - BRIDGES consortium
?/. - c.97G>C r.(?) p.(Ala33Pro) - NA g.215674197C>G - chr2_215674197_C_G - BARD1_000488 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 - 2/53461 controls - - - BRIDGES consortium
?/. - c.97G>C r.(?) p.(Ala33Pro) - VUS g.215674197C>G - - - BARD1_000488 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.107A>C r.(?) p.(His36Pro) - NA g.215674187T>G - chr2_215674187_T_G - BARD1_000487 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.107A>G r.(?) p.(His36Arg) - VUS g.215674187T>C - BARD1(NM_000465.2):c.107A>G (p.(His36Arg)) - ABCA12_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.111T>A r.(?) p.(Ser37Arg) - VUS g.215674183A>T - BARD1(NM_000465.2):c.111T>A (p.(Ser37Arg)) - ABCA12_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.117C>T r.(117c>u) p.(Ala39=) ACMG benign g.215674177G>A - - - BARD1_000504 - - - - Germline - - - - - Ana Osorio
?/. - c.119C>T r.(?) p.(Ala40Val) - VUS g.215674175G>A - - - ABCA12_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.121C>G r.(?) p.(Leu41Val) - NA g.215674173G>C - chr2_215674173_G_C - BARD1_000486 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.122T>C r.(?) p.(Leu41Pro) - NA g.215674172A>G - chr2_215674172_A_G - BARD1_000485 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.124G>A r.(?) p.(Asp42Asn) - NA g.215674170C>T - chr2_215674170_C_T - BARD1_000484 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.137A>G r.(?) p.(Lys46Arg) - NA g.215674157T>C - chr2_215674157_T_C - BARD1_000483 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.152C>T r.(?) p.(Ser51Leu) - NA g.215674142G>A - chr2_215674142_G_A - BARD1_000482 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.152C>T r.(?) p.(Ser51Leu) - VUS g.215674142G>A - BARD1(NM_000465.4):c.152C>T (p.S51L) - BARD1_000482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.158G>A r.(?) p.(Cys53Tyr) - NA g.215674136C>T - chr2_215674136_C_T - BARD1_000481 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.158+1G>T r.spl? p.? - NA g.215674135C>A - chr2_215674135_C_A - BARD1_000480 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
-?/. - c.158+20G>T r.(=) p.(=) - likely benign g.215674116C>A - BARD1(NM_000465.2):c.158+20G>T (p.(=)) - ABCA12_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.158+46A>C r.(=) p.(=) - benign g.215674090T>G - BARD1(NM_000465.4):c.158+46A>C - ABCA12_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.159-70T>G r.(=) p.(=) - benign g.215661911A>C - BARD1(NM_000465.4):c.159-70T>G - BARD1_000584 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.159-7C>T r.(=) p.(=) - likely benign g.215661848G>A - BARD1(NM_000465.4):c.159-7C>T - BARD1_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.159-1G>T r.spl? p.? - NA g.215661842C>A - chr2_215661842_C_A - BARD1_000479 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 - 3/60466 cases - - - BRIDGES consortium
?/. - c.159-1G>T r.spl? p.? - NA g.215661842C>A - chr2_215661842_C_A - BARD1_000479 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 - 1/53461 controls - - - BRIDGES consortium
+?/. - c.159-1G>T r.(?) p.(?) - likely pathogenic g.215661842C>A - - - BARD1_000479 - - - rs879254139 Unknown - - - - - MobiDetails
?/. - c.159T>G r.(?) p.(Cys53Trp) - NA g.215661841A>C - chr2_215661841_A_C - BARD1_000478 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.160A>G r.(?) p.(Thr54Ala) - NA g.215661840T>C - chr2_215661840_T_C - BARD1_000477 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 - - - BRIDGES consortium
?/. - c.160A>G r.(?) p.(Thr54Ala) - NA g.215661840T>C - chr2_215661840_T_C - BARD1_000477 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 - 9/53461 controls - - - BRIDGES consortium
?/. - c.160A>G r.(?) p.(Thr54Ala) - VUS g.215661840T>C - BARD1(NM_000465.2):c.160A>G (p.(Thr54Ala)), BARD1(NM_000465.4):c.160A>G (p.T54A) - BARD1_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.160A>G r.(?) p.(Thr54Ala) - VUS g.215661840T>C - BARD1(NM_000465.2):c.160A>G (p.(Thr54Ala)), BARD1(NM_000465.4):c.160A>G (p.T54A) - BARD1_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.160A>G r.(?) p.(Thr54Ala) - likely benign g.215661840T>C - BARD1(NM_000465.2):c.160A>G (p.(Thr54Ala)), BARD1(NM_000465.4):c.160A>G (p.T54A) - BARD1_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.163A>G r.(?) p.(Asn55Asp) - NA g.215661837T>C - chr2_215661837_T_C - BARD1_000476 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.173G>A r.(?) p.(Arg58Lys) - NA g.215661827C>T - chr2_215661827_C_T - BARD1_000474 not in 60466 cases; 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 - 2/53461 controls - - - BRIDGES consortium
?/. - c.173G>A r.(?) p.(Arg58Lys) - VUS g.215661827C>T - - - BARD1_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.175G>C r.(?) p.(Glu59Gln) - NA g.215661825C>G - chr2_215661825_C_G - BARD1_000473 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.176_177del r.(?) p.(Glu59Alafs*8) - NA g.215661828_215661829del - chr2_215661822_GCT_G - BARD1_000475 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.176_177del r.(?) p.(Glu59Alafs*8) - NA g.215661828_215661829del - chr2_215661822_GCT_G - BARD1_000475 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 - 3/53461 controls - - - BRIDGES consortium
?/. - c.179C>T r.(?) p.(Pro60Leu) - NA g.215661821G>A - chr2_215661821_G_A - BARD1_000472 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.182T>G r.(?) p.(Val61Gly) - NA g.215661818A>C - chr2_215661818_A_C - BARD1_000471 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.188T>A r.(?) p.(Leu63*) - NA g.215661812A>T - chr2_215661812_A_T - BARD1_000470 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
+/. - c.188T>A r.(?) p.(Leu63*) - pathogenic g.215661812A>T - BARD1(NM_000465.4):c.188T>A (p.L63*) - BARD1_000470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.188T>A r.(?) p.(Leu63*) - pathogenic g.215661812A>T - BARD1(NM_000465.4):c.188T>A (p.L63*) - BARD1_000470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.188T>C r.(?) p.(Leu63Ser) - NA g.215661812A>G - chr2_215661812_A_G - BARD1_000469 not in 60466 cases; 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 - 2/53461 controls - - - BRIDGES consortium
?/. - c.193G>A r.(?) p.(Gly65Arg) - NA g.215661807C>T - chr2_215661807_C_T - BARD1_000468 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.201G>C r.(?) p.(Glu67Asp) - NA g.215661799C>G - chr2_215661799_C_G - BARD1_000467 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
-?/. - c.215+13G>A r.(=) p.(=) - likely benign g.215661772C>T - BARD1(NM_000465.4):c.215+13G>A - BARD1_000527 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.215+15T>G r.(=) p.(=) - VUS g.215661770A>C - BARD1(NM_000465.4):c.215+15T>G - BARD1_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.215+20T>A r.(=) p.(=) - likely benign g.215661765A>T - BARD1(NM_000465.4):c.215+20T>A - BARD1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.215+20T>A r.(=) p.(=) - likely benign g.215661765A>T - BARD1(NM_000465.4):c.215+20T>A - BARD1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.216-14del r.(=) p.(=) - benign g.215657198del g.214792474del BARD1(NM_000465.2):c.216-14del (p.(=)), BARD1(NM_000465.4):c.216-14delT - BARD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.216-14del r.(=) p.(=) - benign g.215657198del g.214792474del BARD1(NM_000465.2):c.216-14del (p.(=)), BARD1(NM_000465.4):c.216-14delT - BARD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.216-14del r.(=) p.(=) - benign g.215657198del - BARD1(NM_000465.2):c.216-14del (p.(=)), BARD1(NM_000465.4):c.216-14delT - BARD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.216-14del r.(=) p.(=) - benign g.215657198del - BARD1(NM_000465.2):c.216-14del (p.(=)), BARD1(NM_000465.4):c.216-14delT - BARD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.216-14dup r.(=) p.(=) - likely benign g.215657198dup - BARD1(NM_000465.2):c.216-14dup (p.(=)), BARD1(NM_000465.4):c.216-14dupT - BARD1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.216-14dup r.(=) p.(=) - benign g.215657198dup - BARD1(NM_000465.2):c.216-14dup (p.(=)), BARD1(NM_000465.4):c.216-14dupT - BARD1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.216-14dup r.(=) p.(=) - likely benign g.215657198dup - BARD1(NM_000465.2):c.216-14dup (p.(=)), BARD1(NM_000465.4):c.216-14dupT - BARD1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.216-14T>A r.(=) p.(=) - VUS g.215657183A>T - BARD1(NM_000465.4):c.216-14T>A - BARD1_000570 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.216-9A>C r.(=) p.(=) - likely benign g.215657178T>G - BARD1(NM_000465.4):c.216-9A>C - BARD1_000569 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.216-9A>T r.(=) p.(=) - benign g.215657178T>A g.214792454T>A BARD1(NM_000465.4):c.216-9A>T - BARD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.226A>G r.(?) p.(Ser76Gly) - VUS g.215657159T>C - BARD1(NM_000465.4):c.226A>G (p.S76G) - BARD1_000583 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.226A>T r.(?) p.(Ser76Cys) - NA g.215657159T>A - chr2_215657159_T_A - BARD1_000466 not in 60466 cases; 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 - 1/53461 controls - - - BRIDGES consortium
?/. - c.233G>A r.(?) p.(Cys78Tyr) - NA g.215657152C>T - chr2_215657152_C_T - BARD1_000465 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 - 5/60466 cases - - - BRIDGES consortium
?/. - c.233G>A r.(?) p.(Cys78Tyr) - NA g.215657152C>T - chr2_215657152_C_T - BARD1_000465 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 - 4/53461 controls - - - BRIDGES consortium
?/. - c.235A>G r.(?) p.(Ile79Val) - NA g.215657150T>C - chr2_215657150_T_C - BARD1_000464 not in 53461 controls; 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 - 1/60466 cases - - - BRIDGES consortium
?/. - c.245G>T r.(?) p.(Gly82Val) - NA g.215657140C>A - chr2_215657140_C_A - BARD1_000463 not in 53461 controls; 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 - 3/60466 cases - - - BRIDGES consortium
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