Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 15227 duplication NM_001017995.2(SH3PXD2B):c.147dupT (p.Asp50Terfs) 794728005 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172422425 172422425 A AA 15227 duplication NM_001017995.2(SH3PXD2B):c.147dupT (p.Asp50Terfs) 794728005 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171849429 171849429 A AA 15228 deletion NM_001017995.2(SH3PXD2B):c.969delG (p.Arg324Glyfs) 794728006 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172350406 172350406 C - 15228 deletion NM_001017995.2(SH3PXD2B):c.969delG (p.Arg324Glyfs) 794728006 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171777410 171777410 C - 15229 single nucleotide variant NM_001017995.2(SH3PXD2B):c.127C>T (p.Arg43Trp) 267607046 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171849449 171849449 G A 15229 single nucleotide variant NM_001017995.2(SH3PXD2B):c.127C>T (p.Arg43Trp) 267607046 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172422445 172422445 G A 15230 single nucleotide variant NM_001017995.2(SH3PXD2B):c.76-2A>C 775217258 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172422498 172422498 T G 15230 single nucleotide variant NM_001017995.2(SH3PXD2B):c.76-2A>C 775217258 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171849502 171849502 T G 70572 single nucleotide variant NM_001017995.2(SH3PXD2B):c.401+1G>A 367543284 MedGen:C1859406,OMIM:211170,Orphanet:ORPHA1266;MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171809039 171809039 C T 70572 single nucleotide variant NM_001017995.2(SH3PXD2B):c.401+1G>A 367543284 MedGen:C1859406,OMIM:211170,Orphanet:ORPHA1266;MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172382035 172382035 C T 191173 indel NM_001017995.2(SH3PXD2B):c.1063-9_1063-8delTCinsCT 797044638 MedGen:CN169374 5 171773273 171773274 GA AG 191173 indel NM_001017995.2(SH3PXD2B):c.1063-9_1063-8delTCinsCT 797044638 MedGen:CN169374 5 172346269 172346270 GA AG 191174 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1063-8C>T 76931006 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 171773273 171773273 G A 191174 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1063-8C>T 76931006 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 172346269 172346269 G A 191175 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1063-9T>C 189684298 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 171773274 171773274 A G 191175 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1063-9T>C 189684298 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 172346270 172346270 A G 191351 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1422G>A (p.Pro474=) 199727236 MedGen:CN169374 5 171766687 171766687 C T 191351 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1422G>A (p.Pro474=) 199727236 MedGen:CN169374 5 172339683 172339683 C T 191352 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1291G>A (p.Ala431Thr) 142779141 MedGen:CN169374 5 171766818 171766818 C T 191352 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1291G>A (p.Ala431Thr) 142779141 MedGen:CN169374 5 172339814 172339814 C T 196205 single nucleotide variant NM_001017995.2(SH3PXD2B):c.785+4C>G 369555721 MedGen:CN169374 5 171780888 171780888 G C 196205 single nucleotide variant NM_001017995.2(SH3PXD2B):c.785+4C>G 369555721 MedGen:CN169374 5 172353884 172353884 G C 213775 deletion NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del -1 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171758785 171771367 na na 213775 deletion NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del -1 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172331781 172344363 na na 251841 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1062+15G>A 111572530 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 172347268 172347268 C T 251841 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1062+15G>A 111572530 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 171774272 171774272 C T 251842 single nucleotide variant NM_001017995.2(SH3PXD2B):c.843G>A (p.Glu281=) 138021995 MedGen:CN169374 5 172350532 172350532 C T 251842 single nucleotide variant NM_001017995.2(SH3PXD2B):c.843G>A (p.Glu281=) 138021995 MedGen:CN169374 5 171777536 171777536 C T 251843 single nucleotide variant NM_001017995.2(SH3PXD2B):c.563-11T>C 2569232 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 172358888 172358888 A G 251843 single nucleotide variant NM_001017995.2(SH3PXD2B):c.563-11T>C 2569232 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 171785892 171785892 A G 251844 single nucleotide variant NM_001017995.2(SH3PXD2B):c.105C>T (p.Ser35=) 17074773 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 172422467 172422467 G A 251844 single nucleotide variant NM_001017995.2(SH3PXD2B):c.105C>T (p.Ser35=) 17074773 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 171849471 171849471 G A 264256 deletion NM_001017995.2(SH3PXD2B):c.846delC (p.Leu283Cysfs) 886042037 MedGen:CN221809 5 171777533 171777533 G - 264256 deletion NM_001017995.2(SH3PXD2B):c.846delC (p.Leu283Cysfs) 886042037 MedGen:CN221809 5 172350529 172350529 G - 266318 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1398C>T (p.Pro466=) 140209484 MedGen:CN169374 5 171766711 171766711 G A 266318 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1398C>T (p.Pro466=) 140209484 MedGen:CN169374 5 172339707 172339707 G A 268858 deletion NM_001017995.2(SH3PXD2B):c.1624_1629delGAGCGG (p.Glu542_Arg543del) 534091900 MedGen:CN169374 5 171766480 171766485 CCGCTC - 268858 deletion NM_001017995.2(SH3PXD2B):c.1624_1629delGAGCGG (p.Glu542_Arg543del) 534091900 MedGen:CN169374 5 172339476 172339481 CCGCTC - 271036 deletion NM_001017995.2(SH3PXD2B):c.1102delC (p.Gln368Lysfs) 886043480 MedGen:CN169374 5 171773226 171773226 G - 271036 deletion NM_001017995.2(SH3PXD2B):c.1102delC (p.Gln368Lysfs) 886043480 MedGen:CN169374 5 172346222 172346222 G - 271767 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2456G>A (p.Arg819Gln) 200899339 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 171765653 171765653 C T 271767 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2456G>A (p.Arg819Gln) 200899339 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834;MedGen:CN169374 5 172338649 172338649 C T 273301 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1602G>A (p.Gly534=) 144228973 MedGen:CN169374 5 171766507 171766507 C T 273301 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1602G>A (p.Gly534=) 144228973 MedGen:CN169374 5 172339503 172339503 C T 273304 deletion NM_001017995.2(SH3PXD2B):c.2395_2397delCTC (p.Leu799del) 759973468 MedGen:CN169374 5 171765712 171765714 GAG - 273304 deletion NM_001017995.2(SH3PXD2B):c.2395_2397delCTC (p.Leu799del) 759973468 MedGen:CN169374 5 172338708 172338710 GAG - 296826 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4827T>A 3204110 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760546 171760546 A T 296826 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4827T>A 3204110 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333542 172333542 A T 296837 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3936G>A 74364058 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334433 172334433 C T 296837 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3936G>A 74364058 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761437 171761437 C T 296838 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3935C>T 886060409 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334434 172334434 G A 296838 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3935C>T 886060409 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761438 171761438 G A 296839 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3363T>C 530641139 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335006 172335006 A G 296839 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3363T>C 530641139 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762010 171762010 A G 296841 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3359C>T 886060411 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335010 172335010 G A 296841 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3359C>T 886060411 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762014 171762014 G A 296842 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3202C>T 180938966 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335167 172335167 G A 296842 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3202C>T 180938966 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762171 171762171 G A 296845 duplication NM_001017995.2(SH3PXD2B):c.*2930dupG 386405693 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335439 172335439 C CC 296845 duplication NM_001017995.2(SH3PXD2B):c.*2930dupG 386405693 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762443 171762443 C CC 296846 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2676G>A 553703806 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335693 172335693 C T 296846 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2676G>A 553703806 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762697 171762697 C T 296848 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2596A>G 889024 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335773 172335773 T C 296848 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2596A>G 889024 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762777 171762777 T C 296849 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1750T>C 3812019 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763623 171763623 A G 296849 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1750T>C 3812019 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336619 172336619 A G 296851 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1607A>G 537907753 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763766 171763766 T C 296851 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1607A>G 537907753 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336762 172336762 T C 296852 insertion NM_001017995.2(SH3PXD2B):c.*1271_*1272insG 5873310 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337097 172337098 - C 296852 insertion NM_001017995.2(SH3PXD2B):c.*1271_*1272insG 5873310 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764101 171764102 - C 296861 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1253A>G 869367 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337116 172337116 T C 296861 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1253A>G 869367 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764120 171764120 T C 296866 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*707C>T 7705886 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337662 172337662 G A 296866 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*707C>T 7705886 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764666 171764666 G A 296871 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*636G>A 564486072 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337733 172337733 C T 296871 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*636G>A 564486072 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764737 171764737 C T 296873 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*589C>T 886060419 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337780 172337780 G A 296873 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*589C>T 886060419 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764784 171764784 G A 296878 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*571C>T 150134055 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337798 172337798 G A 296878 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*571C>T 150134055 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764802 171764802 G A 296880 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2477C>T (p.Pro826Leu) 73317796 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338628 172338628 G A 296880 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2477C>T (p.Pro826Leu) 73317796 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765632 171765632 G A 296885 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2395C>T (p.Leu799Phe) 562915075 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338710 172338710 G A 296885 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2395C>T (p.Leu799Phe) 562915075 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765714 171765714 G A 296892 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2227G>A (p.Val743Met) 141103005 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338878 172338878 C T 296892 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2227G>A (p.Val743Met) 141103005 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765882 171765882 C T 296908 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1983C>T (p.Val661=) 73317798 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339122 172339122 G A 296908 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1983C>T (p.Val661=) 73317798 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766126 171766126 G A 296909 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1472G>A (p.Ser491Asn) 886060422 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766637 171766637 C T 296909 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1472G>A (p.Ser491Asn) 886060422 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339633 172339633 C T 296917 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1326C>A (p.His442Gln) 201324424 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766783 171766783 G T 296917 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1326C>A (p.His442Gln) 201324424 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339779 172339779 G T 296919 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1284G>C (p.Thr428=) 3812017 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766825 171766825 C G 296919 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1284G>C (p.Thr428=) 3812017 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339821 172339821 C G 296921 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1188+13G>A 141265263 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171773127 171773127 C T 296921 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1188+13G>A 141265263 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172346123 172346123 C T 296925 single nucleotide variant NM_001017995.2(SH3PXD2B):c.996C>T (p.Asp332=) 142552959 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172350379 172350379 G A 296925 single nucleotide variant NM_001017995.2(SH3PXD2B):c.996C>T (p.Asp332=) 142552959 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171777383 171777383 G A 296928 single nucleotide variant NM_001017995.2(SH3PXD2B):c.885G>A (p.Pro295=) 145767631 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172350490 172350490 C T 296928 single nucleotide variant NM_001017995.2(SH3PXD2B):c.885G>A (p.Pro295=) 145767631 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171777494 171777494 C T 296932 single nucleotide variant NM_001017995.2(SH3PXD2B):c.450C>T (p.Asp150=) 886060425 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171789851 171789851 G A 296932 single nucleotide variant NM_001017995.2(SH3PXD2B):c.450C>T (p.Asp150=) 886060425 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172362847 172362847 G A 296944 single nucleotide variant NM_001017995.2(SH3PXD2B):c.430G>T (p.Gly144Cys) 368080609 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172362867 172362867 C A 296944 single nucleotide variant NM_001017995.2(SH3PXD2B):c.430G>T (p.Gly144Cys) 368080609 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171789871 171789871 C A 296960 single nucleotide variant NM_001017995.2(SH3PXD2B):c.427+14C>G 79535495 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172373776 172373776 G C 296960 single nucleotide variant NM_001017995.2(SH3PXD2B):c.427+14C>G 79535495 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171800780 171800780 G C 298791 duplication NM_001017995.2(SH3PXD2B):c.*4828dupT 886060405 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760545 171760545 A AA 298791 duplication NM_001017995.2(SH3PXD2B):c.*4828dupT 886060405 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333541 172333541 A AA 298792 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4805G>A 886060406 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333564 172333564 C T 298792 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4805G>A 886060406 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760568 171760568 C T 298793 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4736A>G 527408109 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333633 172333633 T C 298793 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4736A>G 527408109 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760637 171760637 T C 298794 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4079C>T 886060408 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334290 172334290 G A 298794 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4079C>T 886060408 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761294 171761294 G A 298797 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3365A>G 766100701 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335004 172335004 T C 298797 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3365A>G 766100701 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762008 171762008 T C 298798 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3273G>T 889023 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335096 172335096 C A 298798 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3273G>T 889023 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762100 171762100 C A 298799 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2991T>G 886060412 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335378 172335378 A C 298799 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2991T>G 886060412 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762382 171762382 A C 298803 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2798T>C 2339428 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335571 172335571 A G 298803 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2798T>C 2339428 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762575 171762575 A G 298807 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2783A>G 114303017 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335586 172335586 T C 298807 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2783A>G 114303017 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762590 171762590 T C 298808 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2127A>C 28620195 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336242 172336242 T G 298808 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2127A>C 28620195 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763246 171763246 T G 298810 duplication NM_001017995.2(SH3PXD2B):c.*1839dupA 397720891 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763534 171763534 T TT 298810 duplication NM_001017995.2(SH3PXD2B):c.*1839dupA 397720891 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336530 172336530 T TT 298812 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1683T>C 573097315 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763690 171763690 A G 298812 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1683T>C 573097315 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336686 172336686 A G 298819 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*958G>A 76230855 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337411 172337411 C T 298819 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*958G>A 76230855 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764415 171764415 C T 298820 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*957C>T 79360524 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337412 172337412 G A 298820 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*957C>T 79360524 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764416 171764416 G A 298826 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*843G>A 143482443 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337526 172337526 C T 298826 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*843G>A 143482443 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764530 171764530 C T 298828 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*789T>A 150961242 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337580 172337580 A T 298828 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*789T>A 150961242 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764584 171764584 A T 298829 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*708G>A 11134742 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337661 172337661 C T 298829 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*708G>A 11134742 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764665 171764665 C T 298830 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*306C>A 142853015 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338063 172338063 G T 298830 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*306C>A 142853015 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765067 171765067 G T 298833 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*294C>A 76956436 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338075 172338075 G T 298833 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*294C>A 76956436 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765079 171765079 G T 298835 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*235T>C 147011482 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338134 172338134 A G 298835 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*235T>C 147011482 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765138 171765138 A G 298838 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2124C>T (p.Arg708=) 370525113 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338981 172338981 G A 298838 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2124C>T (p.Arg708=) 370525113 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765985 171765985 G A 298840 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1956G>A (p.Thr652=) 374735849 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339149 172339149 C T 298840 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1956G>A (p.Thr652=) 374735849 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766153 171766153 C T 298841 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1638G>A (p.Thr546=) 73317800 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766471 171766471 C T 298841 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1638G>A (p.Thr546=) 73317800 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339467 172339467 C T 298850 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1543G>A (p.Asp515Asn) 62621449 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766566 171766566 C T 298850 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1543G>A (p.Asp515Asn) 62621449 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339562 172339562 C T 298851 single nucleotide variant NM_001017995.2(SH3PXD2B):c.997G>A (p.Gly333Ser) 138316493 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171777382 171777382 C T 298851 single nucleotide variant NM_001017995.2(SH3PXD2B):c.997G>A (p.Gly333Ser) 138316493 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172350378 172350378 C T 298852 single nucleotide variant NM_001017995.2(SH3PXD2B):c.667+14C>A 886060424 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172358759 172358759 G T 298852 single nucleotide variant NM_001017995.2(SH3PXD2B):c.667+14C>A 886060424 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171785763 171785763 G T 298854 single nucleotide variant NM_001017995.2(SH3PXD2B):c.76-4G>A 144523953 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172422500 172422500 C T 298854 single nucleotide variant NM_001017995.2(SH3PXD2B):c.76-4G>A 144523953 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171849504 171849504 C T 303002 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4804T>C 12033 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333565 172333565 A G 303002 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4804T>C 12033 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760569 171760569 A G 303003 deletion NM_001017995.2(SH3PXD2B):c.*4665_*4668delACTC 550289556 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333701 172333704 GAGT - 303003 deletion NM_001017995.2(SH3PXD2B):c.*4665_*4668delACTC 550289556 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760705 171760708 GAGT - 303009 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4035G>A 17074644 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334334 172334334 C T 303009 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4035G>A 17074644 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761338 171761338 C T 303054 deletion NM_001017995.2(SH3PXD2B):c.*3815delC 151201604 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334554 172334554 G - 303054 deletion NM_001017995.2(SH3PXD2B):c.*3815delC 151201604 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761558 171761558 G - 303058 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3006C>T 539299765 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335363 172335363 G A 303058 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3006C>T 539299765 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762367 171762367 G A 303059 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2956G>A 886060413 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335413 172335413 C T 303059 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2956G>A 886060413 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762417 171762417 C T 303060 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2885A>T 186204526 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335484 172335484 T A 303060 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2885A>T 186204526 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762488 171762488 T A 303062 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2543A>G 545661827 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335826 172335826 T C 303062 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2543A>G 545661827 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762830 171762830 T C 303063 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2066G>T 761912938 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336303 172336303 C A 303063 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2066G>T 761912938 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763307 171763307 C A 303067 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1430G>A 569099248 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763943 171763943 C T 303067 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1430G>A 569099248 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336939 172336939 C T 303088 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1429C>T 189080320 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763944 171763944 G A 303088 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1429C>T 189080320 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336940 172336940 G A 303089 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1346G>A 886060415 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337023 172337023 C T 303089 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1346G>A 886060415 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764027 171764027 C T 303090 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1215A>G 4424012 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337154 172337154 T C 303090 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1215A>G 4424012 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764158 171764158 T C 303092 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1159C>T 7701410 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337210 172337210 G A 303092 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1159C>T 7701410 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764214 171764214 G A 303094 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1125G>A 886060416 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337244 172337244 C T 303094 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1125G>A 886060416 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764248 171764248 C T 303108 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*754G>A 7705594 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337615 172337615 C T 303108 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*754G>A 7705594 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764619 171764619 C T 303111 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*642C>T 192181401 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337727 172337727 G A 303111 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*642C>T 192181401 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764731 171764731 G A 303139 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*624A>G 7725797 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337745 172337745 T C 303139 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*624A>G 7725797 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764749 171764749 T C 303141 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1554G>A (p.Glu518=) 886060421 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766555 171766555 C T 303141 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1554G>A (p.Glu518=) 886060421 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339551 172339551 C T 303142 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1063-7G>A 186443822 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171773272 171773272 C T 303142 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1063-7G>A 186443822 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172346268 172346268 C T 303148 single nucleotide variant NM_001017995.2(SH3PXD2B):c.884C>A (p.Pro295Gln) 77955907 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172350491 172350491 G T 303148 single nucleotide variant NM_001017995.2(SH3PXD2B):c.884C>A (p.Pro295Gln) 77955907 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171777495 171777495 G T 303167 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4828T>A 1139996 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760545 171760545 A T 303167 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4828T>A 1139996 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333541 172333541 A T 303168 deletion NM_001017995.2(SH3PXD2B):c.*4828delT 35951290 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760545 171760545 A - 303168 deletion NM_001017995.2(SH3PXD2B):c.*4828delT 35951290 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333541 172333541 A - 303169 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4693C>T 886060407 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333676 172333676 G A 303169 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4693C>T 886060407 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760680 171760680 G A 303170 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4561G>A 755005384 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333808 172333808 C T 303170 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4561G>A 755005384 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760812 171760812 C T 303171 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4420A>G 564001567 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172333949 172333949 T C 303171 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4420A>G 564001567 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171760953 171760953 T C 303172 single nucleotide variant NM_001017995.2(SH3PXD2B):c.522C>T (p.Ser174=) 76299613 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172362775 172362775 G A 303172 single nucleotide variant NM_001017995.2(SH3PXD2B):c.522C>T (p.Ser174=) 76299613 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171789779 171789779 G A 303175 single nucleotide variant NM_001017995.2(SH3PXD2B):c.453C>T (p.Pro151=) 143060223 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172362844 172362844 G A 303175 single nucleotide variant NM_001017995.2(SH3PXD2B):c.453C>T (p.Pro151=) 143060223 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171789848 171789848 G A 303178 single nucleotide variant NM_001017995.2(SH3PXD2B):c.232+4G>A 79926304 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172406273 172406273 C T 303178 single nucleotide variant NM_001017995.2(SH3PXD2B):c.232+4G>A 79926304 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171833277 171833277 C T 303189 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4328C>T 572423054 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761045 171761045 G A 303189 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4328C>T 572423054 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334041 172334041 G A 303198 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4283G>A 181895676 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334086 172334086 C T 303198 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*4283G>A 181895676 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761090 171761090 C T 303199 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3621G>A 886060410 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172334748 172334748 C T 303199 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3621G>A 886060410 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171761752 171761752 C T 303201 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3277T>C 116406895 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335092 172335092 A G 303201 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3277T>C 116406895 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762096 171762096 A G 303202 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3119T>C 142919253 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335250 172335250 A G 303202 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*3119T>C 142919253 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762254 171762254 A G 303204 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2438A>G 760267846 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171762935 171762935 T C 303204 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2438A>G 760267846 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172335931 172335931 T C 303218 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2309A>T 886060414 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336060 172336060 T A 303218 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2309A>T 886060414 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763064 171763064 T A 303226 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2057T>C 28639552 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763316 171763316 A G 303226 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2057T>C 28639552 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336312 172336312 A G 303237 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2032G>A 11953725 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763341 171763341 C T 303237 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*2032G>A 11953725 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336337 172336337 C T 303251 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1511A>G 869366 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172336858 172336858 T C 303251 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1511A>G 869366 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171763862 171763862 T C 303254 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1246G>A 776059475 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337123 172337123 C T 303254 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*1246G>A 776059475 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764127 171764127 C T 303261 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*861C>T 886060417 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337508 172337508 G A 303261 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*861C>T 886060417 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764512 171764512 G A 303264 duplication NM_001017995.2(SH3PXD2B):c.*652_*654dupTCT 886060418 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337715 172337717 AGA AGAAGA 303264 duplication NM_001017995.2(SH3PXD2B):c.*652_*654dupTCT 886060418 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764719 171764721 AGA AGAAGA 303266 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*636G>T 564486072 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172337733 172337733 C A 303266 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*636G>T 564486072 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171764737 171764737 C A 303273 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*323C>T 886060420 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338046 172338046 G A 303273 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*323C>T 886060420 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765050 171765050 G A 303277 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*14T>C 73317794 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338355 172338355 A G 303277 single nucleotide variant NM_001017995.2(SH3PXD2B):c.*14T>C 73317794 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765359 171765359 A G 303278 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2544C>T (p.Asp848=) 149498667 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172338561 172338561 G A 303278 single nucleotide variant NM_001017995.2(SH3PXD2B):c.2544C>T (p.Asp848=) 149498667 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171765565 171765565 G A 303279 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1712C>T (p.Pro571Leu) 111230322 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172339393 172339393 G A 303279 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1712C>T (p.Pro571Leu) 111230322 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171766397 171766397 G A 303282 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1126A>G (p.Ile376Val) 886060423 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171773202 171773202 T C 303282 single nucleotide variant NM_001017995.2(SH3PXD2B):c.1126A>G (p.Ile376Val) 886060423 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172346198 172346198 T C 303288 single nucleotide variant NM_001017995.2(SH3PXD2B):c.66C>T (p.Asn22=) 762908120 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172454287 172454287 G A 303288 single nucleotide variant NM_001017995.2(SH3PXD2B):c.66C>T (p.Asn22=) 762908120 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171881291 171881291 G A 303298 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-40C>T 766273502 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172454392 172454392 G A 303298 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-40C>T 766273502 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171881396 171881396 G A 303303 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-56C>G 62385470 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172454408 172454408 G C 303303 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-56C>G 62385470 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171881412 171881412 G C 303304 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-67C>T 139600850 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172454419 172454419 G A 303304 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-67C>T 139600850 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171881423 171881423 G A 303306 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-79C>A 372849248 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 172454431 172454431 G T 303306 single nucleotide variant NM_001017995.2(SH3PXD2B):c.-79C>A 372849248 MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834 5 171881435 171881435 G T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 5 171772583 rs4868163 G A rs4868163 1.23E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 G intron GWASdb_trait 5 171781974 rs6556014 G T rs6556014 6.87E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 5 171782884 rs10053291 C G rs10053291 6.07E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 5 171785702 rs17703000 A G rs17703000 6.14E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 5 171786861 rs13182040 G T rs13182040 9.75E-05 Aging (time to event) HPOID:0000118 NA G intron GWASdb_trait 5 171800383 rs2569208 T C rs2569208 9.04E-05 Longevity HPOID:0000118 NA C intron GWASdb_trait 5 171817044 rs2247647 C T rs2247647 7.67E-05 Longevity HPOID:0000118 NA T intron GWASdb_trait 5 171820052 rs2116811 C T rs2116811 5.50E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 5 171821671 rs13356223 T C rs13356223 5.91E-05 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 5 171840079 rs7713684 T C rs7713684 9.86E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 5 171840387 rs10077897 G A rs10077897 1.39E-04 Body mass index HPOID:0001507 DOID:9970 G intron GWASdb_trait 5 171840725 rs13436547 G A rs13436547 4.27E-04 Body mass index HPOID:0001507 DOID:9970 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000174705.12 SH3PXD2B 613293