Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 25841 single nucleotide variant NM_153252.4(BRWD3):c.3325+1G>T 730882185 MedGen:C1970841,OMIM:300659 X 79947587 79947587 C A 25841 single nucleotide variant NM_153252.4(BRWD3):c.3325+1G>T 730882185 MedGen:C1970841,OMIM:300659 X 80692088 80692088 C A 25842 duplication NM_153252.4(BRWD3):c.946dupA (p.Arg316Lysfs) 730882186 MedGen:C1970841,OMIM:300659 X 79990665 79990665 T TT 25842 duplication NM_153252.4(BRWD3):c.946dupA (p.Arg316Lysfs) 730882186 MedGen:C1970841,OMIM:300659 X 80735166 80735166 T TT 25843 single nucleotide variant NM_153252.4(BRWD3):c.4786A>G (p.Lys1596Glu) 137853272 MedGen:C1970841,OMIM:300659 X 79932731 79932731 T C 25843 single nucleotide variant NM_153252.4(BRWD3):c.4786A>G (p.Lys1596Glu) 137853272 MedGen:C1970841,OMIM:300659 X 80677232 80677232 T C 74931 copy number gain GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 -1 - X 79884715 80017999 na na 74931 copy number gain GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 -1 - X 80629216 80762500 na na 74931 copy number gain GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 -1 - X 79771371 79904655 na na 102411 single nucleotide variant NM_153252.4(BRWD3):c.4377A>G (p.Leu1459=) 138240307 MedGen:CN169374 X 79937984 79937984 T C 102411 single nucleotide variant NM_153252.4(BRWD3):c.4377A>G (p.Leu1459=) 138240307 MedGen:CN169374 X 80682485 80682485 T C 102412 single nucleotide variant NM_153252.4(BRWD3):c.813+10G>C 55824836 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 79999521 79999521 C G 102412 single nucleotide variant NM_153252.4(BRWD3):c.813+10G>C 55824836 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 80744022 80744022 C G 133980 single nucleotide variant NM_153252.4(BRWD3):c.5100T>C (p.Gly1700=) 140852252 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 79932417 79932417 A G 133980 single nucleotide variant NM_153252.4(BRWD3):c.5100T>C (p.Gly1700=) 140852252 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 80676918 80676918 A G 157207 copy number gain GRCh38/hg38 Xq21.1(chrX:80659978-80734149)x2 -1 - X 79915477 79989648 na na 157207 copy number gain GRCh38/hg38 Xq21.1(chrX:80659978-80734149)x2 -1 - X 80659978 80734149 na na 157207 copy number gain GRCh38/hg38 Xq21.1(chrX:80659978-80734149)x2 -1 - X 79802133 79876304 na na 160383 copy number loss GRCh38/hg38 Xq21.1(chrX:80711040-80734149)x1 -1 - X 79966539 79989648 na na 160383 copy number loss GRCh38/hg38 Xq21.1(chrX:80711040-80734149)x1 -1 - X 80711040 80734149 na na 160383 copy number loss GRCh38/hg38 Xq21.1(chrX:80711040-80734149)x1 -1 - X 79853195 79876304 na na 163556 copy number gain GRCh38/hg38 Xq21.1(chrX:80679741-81059969)x3 -1 - X 79935240 80315468 na na 163556 copy number gain GRCh38/hg38 Xq21.1(chrX:80679741-81059969)x3 -1 - X 80679741 81059969 na na 163556 copy number gain GRCh38/hg38 Xq21.1(chrX:80679741-81059969)x3 -1 - X 79821896 80202124 na na 192155 single nucleotide variant NM_153252.4(BRWD3):c.2083A>G (p.Asn695Asp) 189045413 MedGen:CN169374 X 79973220 79973220 T C 192155 single nucleotide variant NM_153252.4(BRWD3):c.2083A>G (p.Asn695Asp) 189045413 MedGen:CN169374 X 80717721 80717721 T C 192585 single nucleotide variant NM_153252.4(BRWD3):c.33G>A (p.Glu11=) 139071237 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 80064802 80064802 C T 192585 single nucleotide variant NM_153252.4(BRWD3):c.33G>A (p.Glu11=) 139071237 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 80809303 80809303 C T 196081 single nucleotide variant NM_153252.4(BRWD3):c.769G>A (p.Val257Ile) 112829587 MedGen:CN169374 X 79999575 79999575 C T 196081 single nucleotide variant NM_153252.4(BRWD3):c.769G>A (p.Val257Ile) 112829587 MedGen:CN169374 X 80744076 80744076 C T 196349 duplication NM_153252.4(BRWD3):c.814-4dupT 778355478 MedGen:CN169374 X 79991591 79991591 A AA 196349 duplication NM_153252.4(BRWD3):c.814-4dupT 778355478 MedGen:CN169374 X 80736092 80736092 A AA 209301 single nucleotide variant NM_153252.4(BRWD3):c.5101G>A (p.Gly1701Arg) 200751676 MedGen:CN169374 X 80676917 80676917 C T 209301 single nucleotide variant NM_153252.4(BRWD3):c.5101G>A (p.Gly1701Arg) 200751676 MedGen:CN169374 X 79932416 79932416 C T 209302 single nucleotide variant NM_153252.4(BRWD3):c.3690A>G (p.Ala1230=) 797045419 MedGen:CN169374 X 79945504 79945504 T C 209302 single nucleotide variant NM_153252.4(BRWD3):c.3690A>G (p.Ala1230=) 797045419 MedGen:CN169374 X 80690005 80690005 T C 209303 single nucleotide variant NM_153252.4(BRWD3):c.3541G>A (p.Val1181Ile) 797045418 MedGen:CN169374 X 80691114 80691114 C T 209303 single nucleotide variant NM_153252.4(BRWD3):c.3541G>A (p.Val1181Ile) 797045418 MedGen:CN169374 X 79946613 79946613 C T 209304 single nucleotide variant NM_153252.4(BRWD3):c.3324A>G (p.Gly1108=) 372374523 MedGen:CN169374 X 80692090 80692090 T C 209304 single nucleotide variant NM_153252.4(BRWD3):c.3324A>G (p.Gly1108=) 372374523 MedGen:CN169374 X 79947589 79947589 T C 209305 single nucleotide variant NM_153252.4(BRWD3):c.2105G>A (p.Ser702Asn) 797045417 MedGen:CN169374 X 80717699 80717699 C T 209305 single nucleotide variant NM_153252.4(BRWD3):c.2105G>A (p.Ser702Asn) 797045417 MedGen:CN169374 X 79973198 79973198 C T 209306 single nucleotide variant NM_153252.4(BRWD3):c.1755T>G (p.Pro585=) 797045416 MedGen:CN169374 X 80722683 80722683 A C 209306 single nucleotide variant NM_153252.4(BRWD3):c.1755T>G (p.Pro585=) 797045416 MedGen:CN169374 X 79978182 79978182 A C 209307 single nucleotide variant NM_153252.4(BRWD3):c.597A>C (p.Ser199=) 142085721 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 80744248 80744248 T G 209307 single nucleotide variant NM_153252.4(BRWD3):c.597A>C (p.Ser199=) 142085721 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 79999747 79999747 T G 213673 single nucleotide variant NM_153252.4(BRWD3):c.4255T>G (p.Leu1419Val) 863224851 MedGen:C1970841,OMIM:300659 X 79938106 79938106 A C 213673 single nucleotide variant NM_153252.4(BRWD3):c.4255T>G (p.Leu1419Val) 863224851 MedGen:C1970841,OMIM:300659 X 80682607 80682607 A C 237187 single nucleotide variant NM_153252.4(BRWD3):c.3718C>T (p.Arg1240Ter) 878853055 MedGen:CN221809 X 79945476 79945476 G A 237187 single nucleotide variant NM_153252.4(BRWD3):c.3718C>T (p.Arg1240Ter) 878853055 MedGen:CN221809 X 80689977 80689977 G A 247209 single nucleotide variant NM_153252.4(BRWD3):c.2325+5G>A 186391561 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 79971651 79971651 C T 247209 single nucleotide variant NM_153252.4(BRWD3):c.2325+5G>A 186391561 MedGen:C3501611,Orphanet:ORPHA777;MedGen:CN169374 X 80716152 80716152 C T 264927 single nucleotide variant NM_153252.4(BRWD3):c.4309G>A (p.Ala1437Thr) 767555361 MedGen:CN169374 X 79938052 79938052 C T 264927 single nucleotide variant NM_153252.4(BRWD3):c.4309G>A (p.Ala1437Thr) 767555361 MedGen:CN169374 X 80682553 80682553 C T 265317 single nucleotide variant NM_153252.4(BRWD3):c.3863G= (p.Arg1288=) 3122407 MedGen:CN169374 X 79943569 79943569 T C 265317 single nucleotide variant NM_153252.4(BRWD3):c.3863G= (p.Arg1288=) 3122407 MedGen:CN169374 X 80688070 80688070 T C 339571 single nucleotide variant NM_153252.4(BRWD3):c.*6640T>A 192201825 MedGen:C3501611,Orphanet:ORPHA777 X 79925468 79925468 A T 339571 single nucleotide variant NM_153252.4(BRWD3):c.*6640T>A 192201825 MedGen:C3501611,Orphanet:ORPHA777 X 80669969 80669969 A T 339572 single nucleotide variant NM_153252.4(BRWD3):c.*6439G>A 375704347 MedGen:C3501611,Orphanet:ORPHA777 X 80670170 80670170 C T 339572 single nucleotide variant NM_153252.4(BRWD3):c.*6439G>A 375704347 MedGen:C3501611,Orphanet:ORPHA777 X 79925669 79925669 C T 339575 single nucleotide variant NM_153252.4(BRWD3):c.*5993G>C 7065450 MedGen:C3501611,Orphanet:ORPHA777 X 80670616 80670616 C G 339575 single nucleotide variant NM_153252.4(BRWD3):c.*5993G>C 7065450 MedGen:C3501611,Orphanet:ORPHA777 X 79926115 79926115 C G 339580 single nucleotide variant NM_153252.4(BRWD3):c.*5333G>T 180875963 MedGen:C3501611,Orphanet:ORPHA777 X 80671276 80671276 C A 339580 single nucleotide variant NM_153252.4(BRWD3):c.*5333G>T 180875963 MedGen:C3501611,Orphanet:ORPHA777 X 79926775 79926775 C A 339584 single nucleotide variant NM_153252.4(BRWD3):c.*5133G>T 41307391 MedGen:C3501611,Orphanet:ORPHA777 X 80671476 80671476 C A 339584 single nucleotide variant NM_153252.4(BRWD3):c.*5133G>T 41307391 MedGen:C3501611,Orphanet:ORPHA777 X 79926975 79926975 C A 339605 deletion NM_153252.4(BRWD3):c.*273_*276delACAC 35220611 MedGen:C3501611,Orphanet:ORPHA777 X 80676333 80676336 GTGT - 339591 single nucleotide variant NM_153252.4(BRWD3):c.*4194C>A 189047883 MedGen:C3501611,Orphanet:ORPHA777 X 80672415 80672415 G T 339591 single nucleotide variant NM_153252.4(BRWD3):c.*4194C>A 189047883 MedGen:C3501611,Orphanet:ORPHA777 X 79927914 79927914 G T 339593 single nucleotide variant NM_153252.4(BRWD3):c.*3850G>C 45627037 MedGen:C3501611,Orphanet:ORPHA777 X 80672759 80672759 C G 339593 single nucleotide variant NM_153252.4(BRWD3):c.*3850G>C 45627037 MedGen:C3501611,Orphanet:ORPHA777 X 79928258 79928258 C G 339599 single nucleotide variant NM_153252.4(BRWD3):c.*2626C>T 1057515999 MedGen:C3501611,Orphanet:ORPHA777 X 80673983 80673983 G A 339599 single nucleotide variant NM_153252.4(BRWD3):c.*2626C>T 1057515999 MedGen:C3501611,Orphanet:ORPHA777 X 79929482 79929482 G A 339600 single nucleotide variant NM_153252.4(BRWD3):c.*1895C>G 1057516002 MedGen:C3501611,Orphanet:ORPHA777 X 79930213 79930213 G C 339600 single nucleotide variant NM_153252.4(BRWD3):c.*1895C>G 1057516002 MedGen:C3501611,Orphanet:ORPHA777 X 80674714 80674714 G C 339601 single nucleotide variant NM_153252.4(BRWD3):c.*1703T>C 1057516003 MedGen:C3501611,Orphanet:ORPHA777 X 79930405 79930405 A G 339601 single nucleotide variant NM_153252.4(BRWD3):c.*1703T>C 1057516003 MedGen:C3501611,Orphanet:ORPHA777 X 80674906 80674906 A G 339603 single nucleotide variant NM_153252.4(BRWD3):c.*1372T>A 41300257 MedGen:C3501611,Orphanet:ORPHA777 X 79930736 79930736 A T 339603 single nucleotide variant NM_153252.4(BRWD3):c.*1372T>A 41300257 MedGen:C3501611,Orphanet:ORPHA777 X 80675237 80675237 A T 339605 deletion NM_153252.4(BRWD3):c.*273_*276delACAC 35220611 MedGen:C3501611,Orphanet:ORPHA777 X 79931832 79931835 GTGT - 339609 deletion NM_153252.4(BRWD3):c.3326-14delT 766196761 MedGen:C3501611,Orphanet:ORPHA777 X 79947491 79947491 A - 339609 deletion NM_153252.4(BRWD3):c.3326-14delT 766196761 MedGen:C3501611,Orphanet:ORPHA777 X 80691992 80691992 A - 339610 duplication NM_153252.4(BRWD3):c.3326-14dupT 765175433 MedGen:C3501611,Orphanet:ORPHA777 X 80691992 80691992 A AA 339610 duplication NM_153252.4(BRWD3):c.3326-14dupT 765175433 MedGen:C3501611,Orphanet:ORPHA777 X 79947491 79947491 A AA 339611 single nucleotide variant NM_153252.4(BRWD3):c.2184G>A (p.Ala728=) 369118921 MedGen:C3501611,Orphanet:ORPHA777 X 80717620 80717620 C T 339611 single nucleotide variant NM_153252.4(BRWD3):c.2184G>A (p.Ala728=) 369118921 MedGen:C3501611,Orphanet:ORPHA777 X 79973119 79973119 C T 349050 single nucleotide variant NM_153252.4(BRWD3):c.*6957C>G 1057515992 MedGen:C3501611,Orphanet:ORPHA777 X 79925151 79925151 G C 349050 single nucleotide variant NM_153252.4(BRWD3):c.*6957C>G 1057515992 MedGen:C3501611,Orphanet:ORPHA777 X 80669652 80669652 G C 349051 single nucleotide variant NM_153252.4(BRWD3):c.*6197T>C 1057515994 MedGen:C3501611,Orphanet:ORPHA777 X 80670412 80670412 A G 349051 single nucleotide variant NM_153252.4(BRWD3):c.*6197T>C 1057515994 MedGen:C3501611,Orphanet:ORPHA777 X 79925911 79925911 A G 349056 single nucleotide variant NM_153252.4(BRWD3):c.*6157C>T 142555243 MedGen:C3501611,Orphanet:ORPHA777 X 80670452 80670452 G A 349056 single nucleotide variant NM_153252.4(BRWD3):c.*6157C>T 142555243 MedGen:C3501611,Orphanet:ORPHA777 X 79925951 79925951 G A 349057 single nucleotide variant NM_153252.4(BRWD3):c.*5790G>A 759779733 MedGen:C3501611,Orphanet:ORPHA777 X 80670819 80670819 C T 349057 single nucleotide variant NM_153252.4(BRWD3):c.*5790G>A 759779733 MedGen:C3501611,Orphanet:ORPHA777 X 79926318 79926318 C T 349059 single nucleotide variant NM_153252.4(BRWD3):c.*3787T>C 146779779 MedGen:C3501611,Orphanet:ORPHA777 X 80672822 80672822 A G 349059 single nucleotide variant NM_153252.4(BRWD3):c.*3787T>C 146779779 MedGen:C3501611,Orphanet:ORPHA777 X 79928321 79928321 A G 349062 single nucleotide variant NM_153252.4(BRWD3):c.*3483G>A 116559809 MedGen:C3501611,Orphanet:ORPHA777 X 80673126 80673126 C T 349062 single nucleotide variant NM_153252.4(BRWD3):c.*3483G>A 116559809 MedGen:C3501611,Orphanet:ORPHA777 X 79928625 79928625 C T 349065 single nucleotide variant NM_153252.4(BRWD3):c.*3083G>T 1057515997 MedGen:C3501611,Orphanet:ORPHA777 X 80673526 80673526 C A 349065 single nucleotide variant NM_153252.4(BRWD3):c.*3083G>T 1057515997 MedGen:C3501611,Orphanet:ORPHA777 X 79929025 79929025 C A 349067 single nucleotide variant NM_153252.4(BRWD3):c.*2877G>A 187241080 MedGen:C3501611,Orphanet:ORPHA777 X 80673732 80673732 C T 349067 single nucleotide variant NM_153252.4(BRWD3):c.*2877G>A 187241080 MedGen:C3501611,Orphanet:ORPHA777 X 79929231 79929231 C T 349071 single nucleotide variant NM_153252.4(BRWD3):c.*2831C>T 3810676 MedGen:C3501611,Orphanet:ORPHA777 X 80673778 80673778 G A 349071 single nucleotide variant NM_153252.4(BRWD3):c.*2831C>T 3810676 MedGen:C3501611,Orphanet:ORPHA777 X 79929277 79929277 G A 349072 single nucleotide variant NM_153252.4(BRWD3):c.*2594T>C 1057516000 MedGen:C3501611,Orphanet:ORPHA777 X 80674015 80674015 A G 349072 single nucleotide variant NM_153252.4(BRWD3):c.*2594T>C 1057516000 MedGen:C3501611,Orphanet:ORPHA777 X 79929514 79929514 A G 349075 single nucleotide variant NM_153252.4(BRWD3):c.*2323G>A 191690327 MedGen:C3501611,Orphanet:ORPHA777 X 79929785 79929785 C T 349075 single nucleotide variant NM_153252.4(BRWD3):c.*2323G>A 191690327 MedGen:C3501611,Orphanet:ORPHA777 X 80674286 80674286 C T 349082 single nucleotide variant NM_153252.4(BRWD3):c.*1592G>C 180892443 MedGen:C3501611,Orphanet:ORPHA777 X 79930516 79930516 C G 349082 single nucleotide variant NM_153252.4(BRWD3):c.*1592G>C 180892443 MedGen:C3501611,Orphanet:ORPHA777 X 80675017 80675017 C G 349093 single nucleotide variant NM_153252.4(BRWD3):c.*1473T>A 756025042 MedGen:C3501611,Orphanet:ORPHA777 X 79930635 79930635 A T 349093 single nucleotide variant NM_153252.4(BRWD3):c.*1473T>A 756025042 MedGen:C3501611,Orphanet:ORPHA777 X 80675136 80675136 A T 349099 deletion NM_153252.4(BRWD3):c.*248_*251delCACA 1057516004 MedGen:C3501611,Orphanet:ORPHA777 X 79931857 79931860 TGTG - 349099 deletion NM_153252.4(BRWD3):c.*248_*251delCACA 1057516004 MedGen:C3501611,Orphanet:ORPHA777 X 80676358 80676361 TGTG - 349101 single nucleotide variant NM_153252.4(BRWD3):c.*121C>G 760166411 MedGen:C3501611,Orphanet:ORPHA777 X 79931987 79931987 G C 349101 single nucleotide variant NM_153252.4(BRWD3):c.*121C>G 760166411 MedGen:C3501611,Orphanet:ORPHA777 X 80676488 80676488 G C 349104 single nucleotide variant NM_153252.4(BRWD3):c.5130G>T (p.Gly1710=) 146425236 MedGen:C3501611,Orphanet:ORPHA777 X 79932387 79932387 C A 349104 single nucleotide variant NM_153252.4(BRWD3):c.5130G>T (p.Gly1710=) 146425236 MedGen:C3501611,Orphanet:ORPHA777 X 80676888 80676888 C A 349107 duplication NM_153252.4(BRWD3):c.-229_-228dupCC 1057516006 MedGen:C3501611,Orphanet:ORPHA777 X 80809699 80809700 GG GGGG 349107 duplication NM_153252.4(BRWD3):c.-229_-228dupCC 1057516006 MedGen:C3501611,Orphanet:ORPHA777 X 80065198 80065199 GG GGGG 349108 duplication NM_153252.4(BRWD3):c.-231_-230dupTC 545281823 MedGen:C3501611,Orphanet:ORPHA777 X 80809701 80809702 GA GAGA 349108 duplication NM_153252.4(BRWD3):c.-231_-230dupTC 545281823 MedGen:C3501611,Orphanet:ORPHA777 X 80065200 80065201 GA GAGA 352448 single nucleotide variant NM_153252.4(BRWD3):c.*6902G>A 188498975 MedGen:C3501611,Orphanet:ORPHA777 X 79925206 79925206 C T 352448 single nucleotide variant NM_153252.4(BRWD3):c.*6902G>A 188498975 MedGen:C3501611,Orphanet:ORPHA777 X 80669707 80669707 C T 352449 single nucleotide variant NM_153252.4(BRWD3):c.*6871G>T 567910666 MedGen:C3501611,Orphanet:ORPHA777 X 79925237 79925237 C A 352449 single nucleotide variant NM_153252.4(BRWD3):c.*6871G>T 567910666 MedGen:C3501611,Orphanet:ORPHA777 X 80669738 80669738 C A 352450 single nucleotide variant NM_153252.4(BRWD3):c.*5481A>C 12690214 MedGen:C3501611,Orphanet:ORPHA777 X 80671128 80671128 T G 352450 single nucleotide variant NM_153252.4(BRWD3):c.*5481A>C 12690214 MedGen:C3501611,Orphanet:ORPHA777 X 79926627 79926627 T G 352451 single nucleotide variant NM_153252.4(BRWD3):c.*5264G>T 760065405 MedGen:C3501611,Orphanet:ORPHA777 X 80671345 80671345 C A 352451 single nucleotide variant NM_153252.4(BRWD3):c.*5264G>T 760065405 MedGen:C3501611,Orphanet:ORPHA777 X 79926844 79926844 C A 352452 single nucleotide variant NM_153252.4(BRWD3):c.*4809T>G 41311569 MedGen:C3501611,Orphanet:ORPHA777 X 80671800 80671800 A C 352452 single nucleotide variant NM_153252.4(BRWD3):c.*4809T>G 41311569 MedGen:C3501611,Orphanet:ORPHA777 X 79927299 79927299 A C 352453 single nucleotide variant NM_153252.4(BRWD3):c.*4581C>T 1057515996 MedGen:C3501611,Orphanet:ORPHA777 X 80672028 80672028 G A 352453 single nucleotide variant NM_153252.4(BRWD3):c.*4581C>T 1057515996 MedGen:C3501611,Orphanet:ORPHA777 X 79927527 79927527 G A 352454 single nucleotide variant NM_153252.4(BRWD3):c.*2744A>G 148045997 MedGen:C3501611,Orphanet:ORPHA777 X 80673865 80673865 T C 352454 single nucleotide variant NM_153252.4(BRWD3):c.*2744A>G 148045997 MedGen:C3501611,Orphanet:ORPHA777 X 79929364 79929364 T C 352455 single nucleotide variant NM_153252.4(BRWD3):c.*2154A>G 184067970 MedGen:C3501611,Orphanet:ORPHA777 X 79929954 79929954 T C 352455 single nucleotide variant NM_153252.4(BRWD3):c.*2154A>G 184067970 MedGen:C3501611,Orphanet:ORPHA777 X 80674455 80674455 T C 352456 single nucleotide variant NM_153252.4(BRWD3):c.*1036A>C 41300175 MedGen:C3501611,Orphanet:ORPHA777 X 79931072 79931072 T G 352456 single nucleotide variant NM_153252.4(BRWD3):c.*1036A>C 41300175 MedGen:C3501611,Orphanet:ORPHA777 X 80675573 80675573 T G 352952 single nucleotide variant NM_153252.4(BRWD3):c.*6862T>C 2063579 MedGen:C3501611,Orphanet:ORPHA777 X 79925246 79925246 A G 352952 single nucleotide variant NM_153252.4(BRWD3):c.*6862T>C 2063579 MedGen:C3501611,Orphanet:ORPHA777 X 80669747 80669747 A G 352953 single nucleotide variant NM_153252.4(BRWD3):c.*6248A>G 1057515993 MedGen:C3501611,Orphanet:ORPHA777 X 80670361 80670361 T C 352953 single nucleotide variant NM_153252.4(BRWD3):c.*6248A>G 1057515993 MedGen:C3501611,Orphanet:ORPHA777 X 79925860 79925860 T C 352954 duplication NM_153252.4(BRWD3):c.*6025dupT 201004001 MedGen:C3501611,Orphanet:ORPHA777 X 80670584 80670584 A AA 352954 duplication NM_153252.4(BRWD3):c.*6025dupT 201004001 MedGen:C3501611,Orphanet:ORPHA777 X 79926083 79926083 A AA 352955 single nucleotide variant NM_153252.4(BRWD3):c.*5514T>C 1057515995 MedGen:C3501611,Orphanet:ORPHA777 X 80671095 80671095 A G 352955 single nucleotide variant NM_153252.4(BRWD3):c.*5514T>C 1057515995 MedGen:C3501611,Orphanet:ORPHA777 X 79926594 79926594 A G 352956 single nucleotide variant NM_153252.4(BRWD3):c.*5461T>G 41306245 MedGen:C3501611,Orphanet:ORPHA777 X 80671148 80671148 A C 352956 single nucleotide variant NM_153252.4(BRWD3):c.*5461T>G 41306245 MedGen:C3501611,Orphanet:ORPHA777 X 79926647 79926647 A C 352957 single nucleotide variant NM_153252.4(BRWD3):c.*4272C>T 190439155 MedGen:C3501611,Orphanet:ORPHA777 X 80672337 80672337 G A 352957 single nucleotide variant NM_153252.4(BRWD3):c.*4272C>T 190439155 MedGen:C3501611,Orphanet:ORPHA777 X 79927836 79927836 G A 352958 single nucleotide variant NM_153252.4(BRWD3):c.*4223C>T 184070793 MedGen:C3501611,Orphanet:ORPHA777 X 80672386 80672386 G A 352958 single nucleotide variant NM_153252.4(BRWD3):c.*4223C>T 184070793 MedGen:C3501611,Orphanet:ORPHA777 X 79927885 79927885 G A 352959 single nucleotide variant NM_153252.4(BRWD3):c.*2710G>A 1057515998 MedGen:C3501611,Orphanet:ORPHA777 X 80673899 80673899 C T 352959 single nucleotide variant NM_153252.4(BRWD3):c.*2710G>A 1057515998 MedGen:C3501611,Orphanet:ORPHA777 X 79929398 79929398 C T 352960 single nucleotide variant NM_153252.4(BRWD3):c.*2329A>T 1057516001 MedGen:C3501611,Orphanet:ORPHA777 X 79929779 79929779 T A 352960 single nucleotide variant NM_153252.4(BRWD3):c.*2329A>T 1057516001 MedGen:C3501611,Orphanet:ORPHA777 X 80674280 80674280 T A 352961 single nucleotide variant NM_153252.4(BRWD3):c.*1992G>A 193085939 MedGen:C3501611,Orphanet:ORPHA777 X 79930116 79930116 C T 352961 single nucleotide variant NM_153252.4(BRWD3):c.*1992G>A 193085939 MedGen:C3501611,Orphanet:ORPHA777 X 80674617 80674617 C T 352962 single nucleotide variant NM_153252.4(BRWD3):c.4263C>T (p.Ala1421=) 749607717 MedGen:C3501611,Orphanet:ORPHA777 X 79938098 79938098 G A 352962 single nucleotide variant NM_153252.4(BRWD3):c.4263C>T (p.Ala1421=) 749607717 MedGen:C3501611,Orphanet:ORPHA777 X 80682599 80682599 G A 352963 single nucleotide variant NM_153252.4(BRWD3):c.814-8T>A 1057516005 MedGen:C3501611,Orphanet:ORPHA777 X 80736096 80736096 A T 352963 single nucleotide variant NM_153252.4(BRWD3):c.814-8T>A 1057516005 MedGen:C3501611,Orphanet:ORPHA777 X 79991595 79991595 A T 352964 deletion NM_153252.4(BRWD3):c.-251_-250delTC 1057516007 MedGen:C3501611,Orphanet:ORPHA777 X 80809721 80809722 GA - 352964 deletion NM_153252.4(BRWD3):c.-251_-250delTC 1057516007 MedGen:C3501611,Orphanet:ORPHA777 X 80065220 80065221 GA - 353868 deletion NM_153252.4(BRWD3):c.-267_-266delCT 199953219 MedGen:C3501611,Orphanet:ORPHA777 X 80065236 80065237 AG - 353868 deletion NM_153252.4(BRWD3):c.-267_-266delCT 199953219 MedGen:C3501611,Orphanet:ORPHA777 X 80809737 80809738 AG - 360695 duplication NM_153252.4(BRWD3):c.2598_2601dupAAAT (p.Leu868Lysfs) 1057518202 MedGen:CN221809 X 80704798 80704801 ATTT ATTTATTT 360695 duplication NM_153252.4(BRWD3):c.2598_2601dupAAAT (p.Leu868Lysfs) 1057518202 MedGen:CN221809 X 79960297 79960297 ATTT ATTTATTT 361256 single nucleotide variant NM_153252.4(BRWD3):c.568C>T (p.Arg190Ter) 1057518650 MedGen:C1970841,OMIM:300659 X 80001091 80001091 G A 361256 single nucleotide variant NM_153252.4(BRWD3):c.568C>T (p.Arg190Ter) 1057518650 MedGen:C1970841,OMIM:300659 X 80745592 80745592 G A

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs4826191 X 80018753 80018753 intronic 0.468175 0.329591780840009 GWAS of prostate cancer rs5913317 X 80012807 80012807 intronic 0.235541 0.62793348546103

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000165288.10 BRWD3 300553