Full data view for gene BRWD3

Information The variants shown are described using the NM_153252.4 transcript reference sequence.

152 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 10i_41_ c.986-72_*7121{0} r.? p.? Unknown - pathogenic g.(?_79915277)_(79989789_?)del g.(?_80659778)_(80734290_?)del chrX:79915277-79989789del - BRWD3_000127 - PubMed: Grotto 2014 - - De novo - - - - - DNA arrayCGH - - ? Fam15709Pat1 PubMed: Grotto 2014 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - 1 Johan den Dunnen
-?/. - c.14C>G r.(?) p.(Pro5Arg) Unknown - likely benign g.80064957G>C g.80809458G>C BRWD3(NM_153252.4):c.14C>G (p.P5R) - BRWD3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Glu11=) Unknown - likely benign g.80064802C>T g.80809303C>T BRWD3(NM_153252.4):c.33G>A (p.E11=, p.(Glu11=)) - BRWD3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Glu11=) Unknown - likely benign g.80064802C>T g.80809303C>T BRWD3(NM_153252.4):c.33G>A (p.E11=, p.(Glu11=)) - BRWD3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>C r.(?) p.(Gly23Arg) Unknown - VUS g.80064768C>G g.80809269C>G - - BRWD3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85G>T r.(?) p.(Ala29Ser) Unknown - VUS g.80064750C>A - BRWD3(NM_153252.4):c.85G>T (p.(Ala29Ser)) - BRWD3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94C>T r.(?) p.(Leu32=) Unknown - likely benign g.80064538G>A - BRWD3(NM_153252.4):c.94C>T (p.L32=) - BRWD3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.100C>T r.(?) p.(Gln34*) Both (homozygous) - likely pathogenic g.80064532G>A g.80809033G>A - - BRWD3_000083 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.121-163_121-162del r.(=) p.(=) Unknown - VUS g.80064259_80064260del g.80808760_80808761del - - BRWD3_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.121-163_121-162del r.(=) p.(=) Unknown - VUS g.80064259_80064260del g.80808760_80808761del - - BRWD3_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.121-162del r.(=) p.(=) Unknown - VUS g.80064259del g.80808760del - - BRWD3_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.121-162del r.(=) p.(=) Unknown - VUS g.80064259del g.80808760del - - BRWD3_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.331+123G>A r.(=) p.(=) Maternal (inferred) - VUS g.80048998C>T g.80793499C>T - - BRWD3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.331+123G>A r.(=) p.(=) Maternal (inferred) - VUS g.80048998C>T g.80793499C>T - - BRWD3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.348A>G r.(?) p.(Leu116=) Unknown - likely benign g.80047435T>C - BRWD3(NM_153252.4):c.348A>G (p.L116=) - BRWD3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Ala149Thr) Unknown - VUS g.80001214C>T g.80745715C>T BRWD3(NM_153252.4):c.445G>A (p.A149T) - BRWD3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.447_451del r.(?) p.(Arg150IlefsTer5) Unknown - likely pathogenic (dominant) g.80001210_80001214del g.80745711_80745715del 447_451del5 - BRWD3_000133 mother unaffected PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG1785 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. - c.451C>T r.(?) p.(Gln151Ter) Unknown - pathogenic (dominant) g.80001208G>A g.80745709G>A - - BRWD3_000132 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG1976 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
?/. - c.460G>A r.(?) p.(Gly154Ser) Unknown - VUS g.80001199C>T g.80745700C>T BRWD3(NM_153252.5):c.460G>A (p.G154S) - BRWD3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.568C>T r.(?) p.(Arg190Ter) Unknown - likely pathogenic g.80001091G>A g.80745592G>A - - BRWD3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.568C>T r.(?) p.(Arg190Ter) Unknown - pathogenic (dominant) g.80001091G>A g.80745592G>A - - BRWD3_000061 mother unaffected PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG0222 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.573C>T r.(?) p.(Ser191=) Unknown - likely benign g.80001086G>A g.80745587G>A BRWD3(NM_153252.5):c.573C>T (p.S191=) - BRWD3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.591+1G>A r.spl? p.? Unknown - likely pathogenic g.80001067C>T g.80745568C>T - - BRWD3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592-47_592-45dup r.(=) p.(=) Maternal (inferred) - VUS g.79999797_79999799dup g.80744298_80744300dup - - BRWD3_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.592-47_592-45dup r.(=) p.(=) Maternal (inferred) - VUS g.79999797_79999799dup g.80744298_80744300dup - - BRWD3_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.592-47_592-45dup r.(=) p.(=) Maternal (inferred) - VUS g.79999797_79999799dup g.80744298_80744300dup - - BRWD3_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.592-47_592-45dup r.(=) p.(=) Maternal (inferred) - VUS g.79999797_79999799dup g.80744298_80744300dup - - BRWD3_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.597A>C r.(?) p.(Ser199=) Unknown - likely benign g.79999747T>G g.80744248T>G BRWD3(NM_153252.5):c.597A>C (p.S199=) - BRWD3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637C>T r.(?) p.(Arg213Cys) Unknown - VUS g.79999707G>A - BRWD3(NM_153252.5):c.637C>T (p.(Arg213Cys)) - BRWD3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.696T>A r.(?) p.(Tyr232*) Unknown - likely pathogenic g.79999648A>T g.80744149A>T - - BRWD3_000093 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410888 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.696T>A r.(?) p.(Tyr232Ter) Unknown - pathogenic (dominant) g.79999648A>T g.80744149A>T - - BRWD3_000093 mother unaffected PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG1291 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.769G>A r.(?) p.(Val257Ile) Unknown - likely benign g.79999575C>T - BRWD3(NM_153252.4):c.769G>A (p.V257I) - BRWD3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>A r.(?) p.(Leu260Ile) Unknown - VUS g.79999566G>T g.80744067G>T - - BRWD3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813+10G>C r.(=) p.(=) Unknown - likely benign g.79999521C>G - BRWD3(NM_153252.5):c.813+10G>C - BRWD3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814-167G>A r.(=) p.(=) Maternal (inferred) - VUS g.79991754C>T g.80736255C>T - - BRWD3_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.814-167G>A r.(=) p.(=) Maternal (inferred) - VUS g.79991754C>T g.80736255C>T - - BRWD3_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.814-4dup r.spl? p.? Unknown - benign g.79991603dup g.80736104dup BRWD3(NM_153252.4):c.814-4dupT - BRWD3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.814-4dup r.spl? p.? Unknown - benign g.79991603dup - BRWD3(NM_153252.5):c.814-4dupT - BRWD3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.915A>G r.(?) p.(Arg305=) Unknown - likely benign g.79990696T>C - BRWD3(NM_153252.5):c.915A>G (p.R305=) - BRWD3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917A>G r.(?) p.(Asp306Gly) Unknown - VUS g.79990694T>C g.80735195T>C - - BRWD3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.937G>A r.(?) p.(Glu313Lys) Unknown - VUS g.79990674C>T - BRWD3(NM_153252.5):c.937G>A (p.E313K) - BRWD3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.946dup r.(?) p.(Arg316Lysfs*22) Parent #1 - VUS g.79990665dup g.80735166dup R316Kfs*22 - BRWD3_000064 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.946dup r.(?) p.(Arg316Lysfs*22) Maternal (inferred) - pathogenic (recessive) g.79990665dup g.80735166dup 946-947insA - BRWD3_000064 - PubMed: Field 2007, Journal: Field 2007 - - Germline yes - - - - DNA SEQ - - ID Fam336 PubMed: Field 2007, Journal: Field 2007 3-generation family, 5 affected males, 3 unaffected carrier females M - Australia - - - - - 5 Johan den Dunnen
?/. - c.1085C>T r.(?) p.(Thr362Met) Unknown - VUS g.79989618G>A g.80734119G>A BRWD3(NM_153252.4):c.1085C>T (p.T362M) - BRWD3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1086G>C r.(?) p.(Thr362=) Unknown - likely pathogenic g.79989617C>G - - - BRWD3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087-100dup r.(=) p.(=) Unknown - VUS g.79989108dup g.80733609dup - - BRWD3_000028 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1087-23G>C r.(=) p.(=) Maternal (inferred) - VUS g.79989018C>G g.80733519C>G - - BRWD3_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1087-23G>C r.(=) p.(=) Maternal (inferred) - VUS g.79989018C>G g.80733519C>G - - BRWD3_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1102G>C r.(?) p.(Val368Leu) Unknown - VUS g.79988980C>G g.80733481C>G BRWD3(NM_153252.5):c.1102G>C (p.V368L) - BRWD3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1118A>G r.(?) p.(Asn373Ser) Unknown - likely benign g.79988964T>C g.80733465T>C BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser)) - BRWD3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118A>G r.(?) p.(Asn373Ser) Unknown - VUS g.79988964T>C g.80733465T>C BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser)) - BRWD3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118A>G r.(?) p.(Asn373Ser) Unknown - VUS g.79988964T>C - BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser)) - BRWD3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11i c.1127+1G>A r.spl p.? Maternal (confirmed) ACMG pathogenic g.79988954C>T g.80733455C>T - - BRWD3_000125 ACMG PVS1, PM2, PP3, PP4 PubMed: Tenorio 2019, Journal: Tenorio 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel ID FamPat3/4 PubMed: Tenorio 2019, Journal: Tenorio 2019 2-generation family, 2 affected brothers, unaffected non-carrier parents M - Spain - - - - - 2 Johan den Dunnen
?/. - c.1128-152T>G r.(=) p.(=) Maternal (inferred) - VUS g.79985671A>C g.80730172A>C - - BRWD3_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1131A>G r.(?) p.(Leu377=) Unknown - likely benign g.79985516T>C - BRWD3(NM_153252.4):c.1131A>G (p.L377=) - BRWD3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1273A>T r.(?) p.(Lys425*) Unknown - pathogenic g.79984364T>A - BRWD3(NM_153252.5):c.1273A>T (p.K425*) - BRWD3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1307C>T r.(?) p.(Thr436Ile) Unknown - likely benign g.79984330G>A - BRWD3(NM_153252.4):c.1307C>T (p.T436I) - BRWD3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1500A>C r.(?) p.(Lys500Asn) Unknown - VUS g.79980453T>G g.80724954T>G BRWD3(NM_153252.5):c.1500A>C (p.K500N) - BRWD3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1589G>T r.(?) p.(Cys530Phe) Unknown - VUS g.79979308C>A - BRWD3(NM_153252.5):c.1589G>T (p.(Cys530Phe)) - BRWD3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1650+220A>G r.(=) p.(=) Maternal (inferred) - VUS g.79979027T>C g.80723528T>C - - BRWD3_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1650+220A>G r.(=) p.(=) Maternal (inferred) - VUS g.79979027T>C g.80723528T>C - - BRWD3_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1685G>A r.(?) p.(Arg562His) Unknown - VUS g.79978252C>T g.80722753C>T - - BRWD3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1758T>A r.(?) p.(Pro586=) Unknown - likely benign g.79978179A>T - BRWD3(NM_153252.4):c.1758T>A (p.P586=) - BRWD3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2044+4_2044+7del r.spl? p.? Unknown - VUS g.79974984_79974987del - BRWD3(NM_153252.5):c.2044+4_2044+7delAGTA - BRWD3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2062_2064delinsCCAT r.(?) p.(Met688ProfsTer2) Unknown - likely pathogenic (dominant) g.79973239_79973241delinsATGG g.80717740_80717742delinsATGG - - BRWD3_000131 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG0055 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.2096G>A r.(?) p.(Arg699Gln) Unknown - likely benign g.79973207C>T g.80717708C>T BRWD3(NM_153252.4):c.2096G>A (p.R699Q, p.(Arg699Gln)), BRWD3(NM_153252.5):c.2096G>A (p.R699Q) - BRWD3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2096G>A r.(?) p.(Arg699Gln) Unknown - VUS g.79973207C>T - BRWD3(NM_153252.4):c.2096G>A (p.R699Q, p.(Arg699Gln)), BRWD3(NM_153252.5):c.2096G>A (p.R699Q) - BRWD3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2096G>A r.(?) p.(Arg699Gln) Unknown - VUS g.79973207C>T - BRWD3(NM_153252.4):c.2096G>A (p.R699Q, p.(Arg699Gln)), BRWD3(NM_153252.5):c.2096G>A (p.R699Q) - BRWD3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2146C>T r.(?) p.(Pro716Ser) Unknown - VUS g.79973157G>A - BRWD3(NM_153252.5):c.2146C>T (p.P716S) - BRWD3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2151G>A r.(?) p.(Arg717=) Unknown - likely benign g.79973152C>T g.80717653C>T BRWD3(NM_153252.4):c.2151G>A (p.R717=) - BRWD3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2165C>A r.(?) p.(Thr722Asn) Unknown - VUS g.79973138G>T - - - BRWD3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2187G>A r.(?) p.(Trp729*) Unknown - pathogenic g.79973116C>T - BRWD3(NM_153252.5):c.2187G>A (p.W729*) - BRWD3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2233G>A r.(?) p.(Val745Ile) Unknown - VUS g.79971748C>T - BRWD3(NM_153252.5):c.2233G>A (p.V745I) - BRWD3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2312dup r.(?) p.(Tyr771Ter) Unknown - pathogenic (dominant) g.79971669dup g.80716170dup 2312dupA - BRWD3_000130 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG0091 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.2325+5G>A r.spl? p.? Unknown - likely benign g.79971651C>T g.80716152C>T BRWD3(NM_153252.4):c.2325+5G>A (p.?), BRWD3(NM_153252.5):c.2325+5G>A - BRWD3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2325+5G>A r.spl? p.? Unknown - likely benign g.79971651C>T g.80716152C>T BRWD3(NM_153252.4):c.2325+5G>A (p.?), BRWD3(NM_153252.5):c.2325+5G>A - BRWD3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2515G>T r.(?) p.(Asp839Tyr) Unknown - VUS g.79962963C>A - BRWD3(NM_153252.5):c.2515G>T (p.D839Y) - BRWD3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2542A>G r.(?) p.(Ser848Gly) Unknown - likely benign g.79962936T>C - BRWD3(NM_153252.4):c.2542A>G (p.S848G) - BRWD3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2604A>G r.(?) p.(Leu868=) Unknown - likely benign g.79960294T>C - BRWD3(NM_153252.4):c.2604A>G (p.L868=) - BRWD3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2721G>T r.(?) p.(Lys907Asn) Unknown - VUS g.79960177C>A - BRWD3(NM_153252.5):c.2721G>T (p.K907N) - BRWD3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2729G>C r.(?) p.(Gly910Ala) Unknown - VUS g.79959085C>G g.80703586C>G BRWD3(NM_153252.4):c.2729G>C (p.(Gly910Ala)) - BRWD3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2773C>T r.(?) p.(Pro925Ser) Unknown - VUS g.79959041G>A g.80703542G>A - - BRWD3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784C>A r.(?) p.(Ile928=) Unknown - likely benign g.79959030G>T g.80703531G>T BRWD3(NM_153252.4):c.2784C>A (p.I928=) - BRWD3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2800C>T r.(?) p.(Arg934Ter) Unknown - likely pathogenic g.79959014G>A g.80703515G>A - - BRWD3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 24 c.2801G>C r.(?) p.(Arg934Pro) Unknown - likely pathogenic (dominant) g.79959013C>G g.80703514C>G - - BRWD3_000117 - PubMed: Nambot 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? PED2065.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.2801_2804dup r.(?) p.(Ser936Thrfs*11) Unknown - likely pathogenic g.79959010_79959013dup - BRWD3(NM_153252.4):c.2801_2804dupGACG (p.(Ser936fs)) - BRWD3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3294C>G r.(?) p.(Ser1098Arg) Unknown - VUS g.79947619G>C - - - BRWD3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3307G>T r.(?) p.(Glu1103Ter) Unknown - pathogenic g.79947606C>A g.80692107C>A BRWD3(NM_153252.4):c.3307G>T (p.E1103*) - BRWD3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29i c.3325+1G>T r.3264_3325del p.Trp1089Cysfs*5 Maternal (confirmed) - pathogenic (recessive) g.79947587C>A g.80692088C>A - - BRWD3_000122 - PubMed: Field 2007, Journal: Field 2007 - - Germline yes - - - X-inactivation 96:4, 100:0, 86:14 of variant allele in 3 carrier females DNA, RNA RT-PCR, SEQ - gene panel ID Fam322 PubMed: Field 2007, Journal: Field 2007 3-generation family, 2 affected (male, uncle) M - Australia - - - - - 2 Johan den Dunnen
-?/. - c.3366C>T r.(?) p.(Ser1122=) Unknown - likely benign g.79947437G>A - BRWD3(NM_153252.4):c.3366C>T (p.S1122=) - BRWD3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3393C>G r.(?) p.(Tyr1131*) Maternal (confirmed) - pathogenic (recessive) g.79947410G>C g.80691911G>C - - BRWD3_000128 - PubMed: Grotto 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID FamW090806PatIII1 PubMed: Grotto 2014 3-generation family, 3 affected brothers/1 half-brother, 3 carrier females M - Estonia - - - - - 4 Johan den Dunnen
+/. - c.3393C>G r.(?) p.(Tyr1131*) Maternal (confirmed) - pathogenic (recessive) g.79947410G>C g.80691911G>C - - BRWD3_000128 - PubMed: Grotto 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID FamW090806PatIII2 PubMed: Grotto 2014 half-brother M - Estonia - - - - - 1 Johan den Dunnen
+/. - c.3393C>G r.(?) p.(Tyr1131*) Maternal (confirmed) - pathogenic (recessive) g.79947410G>C g.80691911G>C - - BRWD3_000128 - PubMed: Grotto 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID FamW090806PatIII3 PubMed: Grotto 2014 half-brother M - Estonia - - - - - 1 Johan den Dunnen
+/. - c.3393C>G r.(?) p.(Tyr1131*) Maternal (confirmed) - pathogenic (recessive) g.79947410G>C g.80691911G>C - - BRWD3_000128 - PubMed: Grotto 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID FamW090806PatIII5 PubMed: Grotto 2014 half-brother M - Estonia - - - - - 1 Johan den Dunnen
?/. - c.3413G>C r.(?) p.(Trp1138Ser) Unknown - VUS g.79947390C>G - - - BRWD3_000137 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3413G>C r.(?) p.(Trp1138Ser) Unknown - likely pathogenic g.79947390C>G - - - BRWD3_000137 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3413G>T r.(?) p.(Trp1138Leu) Maternal (confirmed) - likely pathogenic (recessive) g.79947390C>A g.80691891C>A - - BRWD3_000124 ACMG PM1, PM2, PP3, PP4 PubMed: Tenorio 2019, Journal: Tenorio 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ID Pat2 PubMed: Tenorio 2019, Journal: Tenorio 2019 2-generation family, 1 affected, unaffected carrier mother M - Spain - - - - - 1 Johan den Dunnen
-?/. - c.3425C>T r.(?) p.(Ser1142Phe) Unknown - likely benign g.79947378G>A - - - BRWD3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3429A>G r.(?) p.(Arg1143=) Unknown - likely benign g.79947374T>C - BRWD3(NM_153252.4):c.3429A>G (p.R1143=) - BRWD3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3433G>A r.(?) p.(Glu1145Lys) Unknown - VUS g.79947370C>T g.80691871C>T BRWD3(NM_153252.4):c.3433G>A (p.E1145K, p.(Glu1145Lys)), BRWD3(NM_153252.5):c.3433G>A (p.E1145K) - BRWD3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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