Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 15079 deletion NM_001083961.1(WDR62):c.4205_4208delTGCC (p.Val1402Glyfs) 397704721 MedGen:C1858535,OMIM:604317 19 36595471 36595474 TGCC - 15079 deletion NM_001083961.1(WDR62):c.4205_4208delTGCC (p.Val1402Glyfs) 397704721 MedGen:C1858535,OMIM:604317 19 36104569 36104572 TGCC - 15080 single nucleotide variant NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys) 147875659 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36575580 36575580 G A 15080 single nucleotide variant NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys) 147875659 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36084678 36084678 G A 15081 single nucleotide variant NM_001083961.1(WDR62):c.671G>C (p.Trp224Ser) 267607176 MedGen:C1858535,OMIM:604317 19 36558317 36558317 G C 15081 single nucleotide variant NM_001083961.1(WDR62):c.671G>C (p.Trp224Ser) 267607176 MedGen:C1858535,OMIM:604317 19 36067415 36067415 G C 15082 single nucleotide variant NM_001083961.1(WDR62):c.1408C>T (p.Gln470Ter) 267607177 MedGen:C1858535,OMIM:604317 19 36574001 36574001 C T 15082 single nucleotide variant NM_001083961.1(WDR62):c.1408C>T (p.Gln470Ter) 267607177 MedGen:C1858535,OMIM:604317 19 36083099 36083099 C T 15083 deletion NM_001083961.1(WDR62):c.3839_3855del17 (p.Gly1280Alafs) 397704725 MedGen:C1858535,OMIM:604317 19 36594569 36594585 na na 15083 deletion NM_001083961.1(WDR62):c.3839_3855del17 (p.Gly1280Alafs) 397704725 MedGen:C1858535,OMIM:604317 19 36103667 36103683 na na 39992 single nucleotide variant NM_001083961.1(WDR62):c.1313G>A (p.Arg438His) 387907082 MedGen:C1858535,OMIM:604317 19 36572414 36572414 G A 39992 single nucleotide variant NM_001083961.1(WDR62):c.1313G>A (p.Arg438His) 387907082 MedGen:C1858535,OMIM:604317 19 36081512 36081512 G A 39993 duplication NM_001083961.1(WDR62):c.4241dupT (p.Ser1415Glufs) 587776899 MedGen:C1858535,OMIM:604317 19 36104605 36104605 T TT 39993 duplication NM_001083961.1(WDR62):c.4241dupT (p.Ser1415Glufs) 587776899 MedGen:C1858535,OMIM:604317 19 36595507 36595507 T TT 39994 single nucleotide variant NM_001083961.1(WDR62):c.1531G>A (p.Asp511Asn) 387907083 MedGen:C1858535,OMIM:604317 19 36574124 36574124 G A 39994 single nucleotide variant NM_001083961.1(WDR62):c.1531G>A (p.Asp511Asn) 387907083 MedGen:C1858535,OMIM:604317 19 36083222 36083222 G A 39995 duplication NM_001083961.1(WDR62):c.3936dupC (p.Val1313Argfs) 587776900 MedGen:C1858535,OMIM:604317 19 36103764 36103764 C CC 39995 duplication NM_001083961.1(WDR62):c.3936dupC (p.Val1313Argfs) 587776900 MedGen:C1858535,OMIM:604317 19 36594666 36594666 C CC 39996 deletion NM_001083961.1(WDR62):c.363delT (p.Asp122Metfs) 587776901 MedGen:C1858535,OMIM:604317 19 36065988 36065988 T - 39996 deletion NM_001083961.1(WDR62):c.363delT (p.Asp122Metfs) 587776901 MedGen:C1858535,OMIM:604317 19 36556890 36556890 T - 39997 single nucleotide variant NM_001083961.1(WDR62):c.193G>A (p.Val65Met) 387907084 MedGen:C1858535,OMIM:604317 19 36549697 36549697 G A 39997 single nucleotide variant NM_001083961.1(WDR62):c.193G>A (p.Val65Met) 387907084 MedGen:C1858535,OMIM:604317 19 36058795 36058795 G A 39998 deletion NM_173636.4(WDR62):c.2086delA (p.Ser696Alafs) 863223322 MedGen:C1858535,OMIM:604317 19 36091251 36091251 A - 39998 deletion NM_173636.4(WDR62):c.2086delA (p.Ser696Alafs) 863223322 MedGen:C1858535,OMIM:604317 19 36582153 36582153 A - 39999 deletion NM_173636.4(WDR62):c.2746_2747delAG (p.Gln918Glyfs) 863223323 MedGen:C1858535,OMIM:604317 19 36100754 36100755 AG - 39999 deletion NM_173636.4(WDR62):c.2746_2747delAG (p.Gln918Glyfs) 863223323 MedGen:C1858535,OMIM:604317 19 36591656 36591657 AG - 99440 single nucleotide variant NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) 62109744 MedGen:CN221809;MedGen:CN169374 19 36546015 36546015 C T 99440 single nucleotide variant NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) 62109744 MedGen:CN221809;MedGen:CN169374 19 36055113 36055113 C T 99441 single nucleotide variant NM_001083961.1(WDR62):c.156C>G (p.Ser52=) 398123559 MedGen:CN169374 19 36546029 36546029 C G 99441 single nucleotide variant NM_001083961.1(WDR62):c.156C>G (p.Ser52=) 398123559 MedGen:CN169374 19 36055127 36055127 C G 99442 single nucleotide variant NM_001083961.1(WDR62):c.2227C>T (p.His743Tyr) 142313818 MedGen:CN239163;MedGen:CN169374 19 36583607 36583607 C T 99442 single nucleotide variant NM_001083961.1(WDR62):c.2227C>T (p.His743Tyr) 142313818 MedGen:CN239163;MedGen:CN169374 19 36092705 36092705 C T 99443 single nucleotide variant NM_001083961.1(WDR62):c.3929A>T (p.Gln1310Leu) 2074435 MedGen:CN239163;MedGen:CN169374 19 36594659 36594659 A T 99443 single nucleotide variant NM_001083961.1(WDR62):c.3929A>T (p.Gln1310Leu) 2074435 MedGen:CN239163;MedGen:CN169374 19 36103757 36103757 A T 99444 single nucleotide variant NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) 35811023 MedGen:CN239163;MedGen:CN169374 19 36594676 36594676 C G 99444 single nucleotide variant NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) 35811023 MedGen:CN239163;MedGen:CN169374 19 36103774 36103774 C G 141609 single nucleotide variant NM_001083961.1(WDR62):c.700-18C>T 10423651 MedGen:CN169374 19 36067810 36067810 C T 141609 single nucleotide variant NM_001083961.1(WDR62):c.700-18C>T 10423651 MedGen:CN169374 19 36558712 36558712 C T 141610 single nucleotide variant NM_001083961.1(WDR62):c.1642+8C>T 143309981 MedGen:CN239163;MedGen:CN169374 19 36084752 36084752 C T 141610 single nucleotide variant NM_001083961.1(WDR62):c.1642+8C>T 143309981 MedGen:CN239163;MedGen:CN169374 19 36575654 36575654 C T 141611 single nucleotide variant NM_001083961.1(WDR62):c.2281C>T (p.His761Tyr) 61744321 MedGen:CN239163;MedGen:CN169374 19 36092759 36092759 C T 141611 single nucleotide variant NM_001083961.1(WDR62):c.2281C>T (p.His761Tyr) 61744321 MedGen:CN239163;MedGen:CN169374 19 36583661 36583661 C T 141612 single nucleotide variant NM_001083961.1(WDR62):c.186C>T (p.Leu62=) 11538454 MedGen:CN239163;MedGen:CN169374 19 36058788 36058788 C T 141612 single nucleotide variant NM_001083961.1(WDR62):c.186C>T (p.Leu62=) 11538454 MedGen:CN239163;MedGen:CN169374 19 36549690 36549690 C T 141613 single nucleotide variant NM_001083961.1(WDR62):c.2991C>T (p.Ala997=) 77898819 MedGen:CN169374 19 36101683 36101683 C T 141613 single nucleotide variant NM_001083961.1(WDR62):c.2991C>T (p.Ala997=) 77898819 MedGen:CN169374 19 36592585 36592585 C T 169473 single nucleotide variant NM_001083961.1(WDR62):c.32G>C (p.Arg11Pro) 587784552 MedGen:C1858535,OMIM:604317 19 36055003 36055003 G C 169473 single nucleotide variant NM_001083961.1(WDR62):c.32G>C (p.Arg11Pro) 587784552 MedGen:C1858535,OMIM:604317 19 36545905 36545905 G C 169474 single nucleotide variant NM_001083961.1(WDR62):c.82C>G (p.Arg28Gly) 200283315 MedGen:C1858535,OMIM:604317 19 36545955 36545955 C G 169474 single nucleotide variant NM_001083961.1(WDR62):c.82C>G (p.Arg28Gly) 200283315 MedGen:C1858535,OMIM:604317 19 36055053 36055053 C G 169475 single nucleotide variant NM_001083961.1(WDR62):c.180G>A (p.Val60=) 61742664 MedGen:CN239163;MedGen:CN169374 19 36058782 36058782 G A 169475 single nucleotide variant NM_001083961.1(WDR62):c.180G>A (p.Val60=) 61742664 MedGen:CN239163;MedGen:CN169374 19 36549684 36549684 G A 169476 single nucleotide variant NM_001083961.1(WDR62):c.186C>G (p.Leu62=) 11538454 MedGen:CN169374 19 36549690 36549690 C G 169476 single nucleotide variant NM_001083961.1(WDR62):c.186C>G (p.Leu62=) 11538454 MedGen:CN169374 19 36058788 36058788 C G 169477 single nucleotide variant NM_001083961.1(WDR62):c.332+1G>A 587784553 MedGen:C1858535,OMIM:604317 19 36060031 36060031 G A 169477 single nucleotide variant NM_001083961.1(WDR62):c.332+1G>A 587784553 MedGen:C1858535,OMIM:604317 19 36550933 36550933 G A 169478 single nucleotide variant NM_001083961.1(WDR62):c.359C>A (p.Ser120Tyr) 587784558 MedGen:C1858535,OMIM:604317 19 36065984 36065984 C A 169478 single nucleotide variant NM_001083961.1(WDR62):c.359C>A (p.Ser120Tyr) 587784558 MedGen:C1858535,OMIM:604317 19 36556886 36556886 C A 169479 single nucleotide variant NM_001083961.1(WDR62):c.561+44C>G 115806759 MedGen:CN169374 19 36066471 36066471 C G 169479 single nucleotide variant NM_001083961.1(WDR62):c.561+44C>G 115806759 MedGen:CN169374 19 36557373 36557373 C G 169480 single nucleotide variant NM_001083961.1(WDR62):c.562-13C>T 78138007 MedGen:CN239163;MedGen:CN169374 19 36067293 36067293 C T 169480 single nucleotide variant NM_001083961.1(WDR62):c.562-13C>T 78138007 MedGen:CN239163;MedGen:CN169374 19 36558195 36558195 C T 169481 single nucleotide variant NM_001083961.1(WDR62):c.589G>A (p.Val197Ile) 535488873 MedGen:C1858535,OMIM:604317 19 36067333 36067333 G A 169481 single nucleotide variant NM_001083961.1(WDR62):c.589G>A (p.Val197Ile) 535488873 MedGen:C1858535,OMIM:604317 19 36558235 36558235 G A 169482 single nucleotide variant NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) 12327568 MedGen:CN239163;MedGen:CN169374 19 36067994 36067994 A G 169482 single nucleotide variant NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) 12327568 MedGen:CN239163;MedGen:CN169374 19 36558896 36558896 A G 169483 single nucleotide variant NM_001083961.1(WDR62):c.964G>C (p.Ala322Pro) 587784561 MedGen:C1858535,OMIM:604317 19 36562539 36562539 G C 169483 single nucleotide variant NM_001083961.1(WDR62):c.964G>C (p.Ala322Pro) 587784561 MedGen:C1858535,OMIM:604317 19 36071637 36071637 G C 169484 single nucleotide variant NM_001083961.1(WDR62):c.1043+3A>G 587784541 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36071719 36071719 A G 169484 single nucleotide variant NM_001083961.1(WDR62):c.1043+3A>G 587784541 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36562621 36562621 A G 169485 single nucleotide variant NM_001083961.1(WDR62):c.1225A>G (p.Asn409Asp) 146180912 MedGen:CN169374 19 36564425 36564425 A G 169485 single nucleotide variant NM_001083961.1(WDR62):c.1225A>G (p.Asn409Asp) 146180912 MedGen:CN169374 19 36073523 36073523 A G 169486 single nucleotide variant NM_001083961.1(WDR62):c.1233+13C>T 76130844 MedGen:CN239163;MedGen:CN169374 19 36564446 36564446 C T 169486 single nucleotide variant NM_001083961.1(WDR62):c.1233+13C>T 76130844 MedGen:CN239163;MedGen:CN169374 19 36073544 36073544 C T 169487 single nucleotide variant NM_001083961.1(WDR62):c.1312C>T (p.Arg438Cys) 587784542 MedGen:C1858535,OMIM:604317 19 36572413 36572413 C T 169487 single nucleotide variant NM_001083961.1(WDR62):c.1312C>T (p.Arg438Cys) 587784542 MedGen:C1858535,OMIM:604317 19 36081511 36081511 C T 169488 single nucleotide variant NM_001083961.1(WDR62):c.1315T>G (p.Phe439Val) 75230537 MedGen:CN169374 19 36572416 36572416 T G 169488 single nucleotide variant NM_001083961.1(WDR62):c.1315T>G (p.Phe439Val) 75230537 MedGen:CN169374 19 36081514 36081514 T G 169489 single nucleotide variant NM_001083961.1(WDR62):c.1470C>T (p.Asp490=) 45567532 MedGen:CN239163;MedGen:CN169374 19 36574063 36574063 C T 169489 single nucleotide variant NM_001083961.1(WDR62):c.1470C>T (p.Asp490=) 45567532 MedGen:CN239163;MedGen:CN169374 19 36083161 36083161 C T 169490 single nucleotide variant NM_001083961.1(WDR62):c.1480G>A (p.Gly494Arg) 587784543 MedGen:C1858535,OMIM:604317 19 36574073 36574073 G A 169490 single nucleotide variant NM_001083961.1(WDR62):c.1480G>A (p.Gly494Arg) 587784543 MedGen:C1858535,OMIM:604317 19 36083171 36083171 G A 169491 single nucleotide variant NM_001083961.1(WDR62):c.1486C>T (p.Arg496Trp) 587784544 MedGen:C1858535,OMIM:604317 19 36083177 36083177 C T 169491 single nucleotide variant NM_001083961.1(WDR62):c.1486C>T (p.Arg496Trp) 587784544 MedGen:C1858535,OMIM:604317 19 36574079 36574079 C T 169492 single nucleotide variant NM_001083961.1(WDR62):c.1534C>G (p.Arg512Gly) 201993064 MedGen:C1858535,OMIM:604317 19 36574127 36574127 C G 169492 single nucleotide variant NM_001083961.1(WDR62):c.1534C>G (p.Arg512Gly) 201993064 MedGen:C1858535,OMIM:604317 19 36083225 36083225 C G 169493 single nucleotide variant NM_001083961.1(WDR62):c.1641G>A (p.Thr547=) 2301734 MedGen:CN239163;MedGen:CN169374 19 36084743 36084743 G A 169493 single nucleotide variant NM_001083961.1(WDR62):c.1641G>A (p.Thr547=) 2301734 MedGen:CN239163;MedGen:CN169374 19 36575645 36575645 G A 169494 single nucleotide variant NM_001083961.1(WDR62):c.1643-39G>A 2301735 MedGen:CN169374 19 36086648 36086648 G A 169494 single nucleotide variant NM_001083961.1(WDR62):c.1643-39G>A 2301735 MedGen:CN169374 19 36577550 36577550 G A 169495 single nucleotide variant NM_001083961.1(WDR62):c.1643-10C>T 4806263 MedGen:CN239163;MedGen:CN169374 19 36086677 36086677 C T 169495 single nucleotide variant NM_001083961.1(WDR62):c.1643-10C>T 4806263 MedGen:CN239163;MedGen:CN169374 19 36577579 36577579 C T 169496 single nucleotide variant NM_001083961.1(WDR62):c.1681A>T (p.Ile561Phe) 587784545 MedGen:C1858535,OMIM:604317 19 36086725 36086725 A T 169496 single nucleotide variant NM_001083961.1(WDR62):c.1681A>T (p.Ile561Phe) 587784545 MedGen:C1858535,OMIM:604317 19 36577627 36577627 A T 169497 single nucleotide variant NM_001083961.1(WDR62):c.1750A>C (p.Thr584Pro) 76456648 MedGen:C1858535,OMIM:604317 19 36086794 36086794 A C 169497 single nucleotide variant NM_001083961.1(WDR62):c.1750A>C (p.Thr584Pro) 76456648 MedGen:C1858535,OMIM:604317 19 36577696 36577696 A C 169498 single nucleotide variant NM_001083961.1(WDR62):c.1768+28G>A 77938609 MedGen:CN169374 19 36086840 36086840 G A 169498 single nucleotide variant NM_001083961.1(WDR62):c.1768+28G>A 77938609 MedGen:CN169374 19 36577742 36577742 G A 169499 duplication NM_001083961.1(WDR62):c.2084_2090dupAAAGCAT (p.Ser698Lysfs) 587784546 MedGen:C1858535,OMIM:604317 19 36091249 36091255 AAAGCAT AAAGCATAAAGCAT 169499 duplication NM_001083961.1(WDR62):c.2084_2090dupAAAGCAT (p.Ser698Lysfs) 587784546 MedGen:C1858535,OMIM:604317 19 36582151 36582157 AAAGCAT AAAGCATAAAGCAT 169500 single nucleotide variant NM_001083961.1(WDR62):c.2147-34G>A 2301736 MedGen:CN169374 19 36091368 36091368 G A 169500 single nucleotide variant NM_001083961.1(WDR62):c.2147-34G>A 2301736 MedGen:CN169374 19 36582270 36582270 G A 169501 single nucleotide variant NM_001083961.1(WDR62):c.2211-4G>A 202109439 MedGen:CN239163;MedGen:CN169374 19 36583587 36583587 G A 169501 single nucleotide variant NM_001083961.1(WDR62):c.2211-4G>A 202109439 MedGen:CN239163;MedGen:CN169374 19 36092685 36092685 G A 169502 single nucleotide variant NM_001083961.1(WDR62):c.2271G>A (p.Leu757=) 61494900 MedGen:CN239163;MedGen:CN169374 19 36092749 36092749 G A 169502 single nucleotide variant NM_001083961.1(WDR62):c.2271G>A (p.Leu757=) 61494900 MedGen:CN239163;MedGen:CN169374 19 36583651 36583651 G A 169503 single nucleotide variant NM_001083961.1(WDR62):c.2312A>G (p.Lys771Arg) 61747277 MedGen:CN169374 19 36583692 36583692 A G 169503 single nucleotide variant NM_001083961.1(WDR62):c.2312A>G (p.Lys771Arg) 61747277 MedGen:CN169374 19 36092790 36092790 A G 169504 single nucleotide variant NM_001083961.1(WDR62):c.2334-29C>T 2301737 MedGen:CN169374 19 36584904 36584904 C T 169504 single nucleotide variant NM_001083961.1(WDR62):c.2334-29C>T 2301737 MedGen:CN169374 19 36094002 36094002 C T 169505 single nucleotide variant NM_001083961.1(WDR62):c.2334-6C>A 138928852 MedGen:CN169374 19 36584927 36584927 C A 169505 single nucleotide variant NM_001083961.1(WDR62):c.2334-6C>A 138928852 MedGen:CN169374 19 36094025 36094025 C A 169506 single nucleotide variant NM_001083961.1(WDR62):c.2490C>T (p.Asn830=) 587784547 MedGen:CN239163;MedGen:C1858535,OMIM:604317 19 36587951 36587951 C T 169506 single nucleotide variant NM_001083961.1(WDR62):c.2490C>T (p.Asn830=) 587784547 MedGen:CN239163;MedGen:C1858535,OMIM:604317 19 36097049 36097049 C T 169507 single nucleotide variant NM_001083961.1(WDR62):c.2529C>T (p.Asp843=) 144697999 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36099407 36099407 C T 169507 single nucleotide variant NM_001083961.1(WDR62):c.2529C>T (p.Asp843=) 144697999 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36590309 36590309 C T 169508 single nucleotide variant NM_001083961.1(WDR62):c.2549T>C (p.Leu850Ser) 2285745 MedGen:CN239163;MedGen:CN169374 19 36590329 36590329 T C 169508 single nucleotide variant NM_001083961.1(WDR62):c.2549T>C (p.Leu850Ser) 2285745 MedGen:CN239163;MedGen:CN169374 19 36099427 36099427 T C 169509 single nucleotide variant NM_001083961.1(WDR62):c.2566C>T (p.Arg856Cys) 370558837 MedGen:C1858535,OMIM:604317 19 36099444 36099444 C T 169509 single nucleotide variant NM_001083961.1(WDR62):c.2566C>T (p.Arg856Cys) 370558837 MedGen:C1858535,OMIM:604317 19 36590346 36590346 C T 169510 single nucleotide variant NM_001083961.1(WDR62):c.2584G>T (p.Gly862Cys) 587784548 MedGen:C1858535,OMIM:604317 19 36590364 36590364 G T 169510 single nucleotide variant NM_001083961.1(WDR62):c.2584G>T (p.Gly862Cys) 587784548 MedGen:C1858535,OMIM:604317 19 36099462 36099462 G T 169511 single nucleotide variant NM_001083961.1(WDR62):c.2655C>G (p.Tyr885Ter) 587784549 MedGen:C1858535,OMIM:604317 19 36099533 36099533 C G 169511 single nucleotide variant NM_001083961.1(WDR62):c.2655C>G (p.Tyr885Ter) 587784549 MedGen:C1858535,OMIM:604317 19 36590435 36590435 C G 169512 single nucleotide variant NM_001083961.1(WDR62):c.2782C>T (p.Leu928=) 12610991 MedGen:C1858535,OMIM:604317 19 36100790 36100790 C T 169512 single nucleotide variant NM_001083961.1(WDR62):c.2782C>T (p.Leu928=) 12610991 MedGen:C1858535,OMIM:604317 19 36591692 36591692 C T 169513 single nucleotide variant NM_001083961.1(WDR62):c.2896G>A (p.Gly966Arg) 587784550 MedGen:C1858535,OMIM:604317 19 36101242 36101242 G A 169513 single nucleotide variant NM_001083961.1(WDR62):c.2896G>A (p.Gly966Arg) 587784550 MedGen:C1858535,OMIM:604317 19 36592144 36592144 G A 169514 single nucleotide variant NM_001083961.1(WDR62):c.2945G>A (p.Ser982Asn) 11540047 MedGen:C1858535,OMIM:604317 19 36101291 36101291 G A 169514 single nucleotide variant NM_001083961.1(WDR62):c.2945G>A (p.Ser982Asn) 11540047 MedGen:C1858535,OMIM:604317 19 36592193 36592193 G A 169515 single nucleotide variant NM_001083961.1(WDR62):c.2975C>T (p.Ser992Leu) 74518295 MedGen:CN169374 19 36592569 36592569 C T 169515 single nucleotide variant NM_001083961.1(WDR62):c.2975C>T (p.Ser992Leu) 74518295 MedGen:CN169374 19 36101667 36101667 C T 169516 single nucleotide variant NM_001083961.1(WDR62):c.2982G>A (p.Glu994=) 587784551 MedGen:CN169374 19 36101674 36101674 G A 169516 single nucleotide variant NM_001083961.1(WDR62):c.2982G>A (p.Glu994=) 587784551 MedGen:CN169374 19 36592576 36592576 G A 169517 single nucleotide variant NM_001083961.1(WDR62):c.3033G>A (p.Pro1011=) 118175551 MedGen:CN169374 19 36592627 36592627 G A 169517 single nucleotide variant NM_001083961.1(WDR62):c.3033G>A (p.Pro1011=) 118175551 MedGen:CN169374 19 36101725 36101725 G A 169518 single nucleotide variant NM_001083961.1(WDR62):c.3066G>A (p.Ser1022=) 3746269 MedGen:C1858535,OMIM:604317 19 36101758 36101758 G A 169518 single nucleotide variant NM_001083961.1(WDR62):c.3066G>A (p.Ser1022=) 3746269 MedGen:C1858535,OMIM:604317 19 36592660 36592660 G A 169519 single nucleotide variant NM_001083961.1(WDR62):c.3303G>A (p.Thr1101=) 117887683 MedGen:CN239163;MedGen:CN169374 19 36593721 36593721 G A 169519 single nucleotide variant NM_001083961.1(WDR62):c.3303G>A (p.Thr1101=) 117887683 MedGen:CN239163;MedGen:CN169374 19 36102819 36102819 G A 169520 single nucleotide variant NM_001083961.1(WDR62):c.3335+3A>G 587784554 MedGen:C1858535,OMIM:604317 19 36593756 36593756 A G 169520 single nucleotide variant NM_001083961.1(WDR62):c.3335+3A>G 587784554 MedGen:C1858535,OMIM:604317 19 36102854 36102854 A G 169521 single nucleotide variant NM_001083961.1(WDR62):c.3336-5C>G 587784555 MedGen:C1858535,OMIM:604317 19 36593845 36593845 C G 169521 single nucleotide variant NM_001083961.1(WDR62):c.3336-5C>G 587784555 MedGen:C1858535,OMIM:604317 19 36102943 36102943 C G 169522 single nucleotide variant NM_001083961.1(WDR62):c.3401T>G (p.Met1134Arg) 61741470 MedGen:CN239163;MedGen:CN169374 19 36593915 36593915 T G 169522 single nucleotide variant NM_001083961.1(WDR62):c.3401T>G (p.Met1134Arg) 61741470 MedGen:CN239163;MedGen:CN169374 19 36103013 36103013 T G 169523 single nucleotide variant NM_001083961.1(WDR62):c.3406C>G (p.Arg1136Gly) 587784556 MedGen:C1858535,OMIM:604317 19 36103018 36103018 C G 169523 single nucleotide variant NM_001083961.1(WDR62):c.3406C>G (p.Arg1136Gly) 587784556 MedGen:C1858535,OMIM:604317 19 36593920 36593920 C G 169524 single nucleotide variant NM_001083961.1(WDR62):c.3468C>T (p.Leu1156=) 17851502 MedGen:CN239163;MedGen:CN169374 19 36594063 36594063 C T 169524 single nucleotide variant NM_001083961.1(WDR62):c.3468C>T (p.Leu1156=) 17851502 MedGen:CN239163;MedGen:CN169374 19 36103161 36103161 C T 169525 single nucleotide variant NM_001083961.1(WDR62):c.3514+44G>A 45468494 MedGen:CN169374 19 36103251 36103251 G A 169525 single nucleotide variant NM_001083961.1(WDR62):c.3514+44G>A 45468494 MedGen:CN169374 19 36594153 36594153 G A 169526 single nucleotide variant NM_001083961.1(WDR62):c.3515-7G>A 368668756 MedGen:C1858535,OMIM:604317 19 36594238 36594238 G A 169526 single nucleotide variant NM_001083961.1(WDR62):c.3515-7G>A 368668756 MedGen:C1858535,OMIM:604317 19 36103336 36103336 G A 169527 single nucleotide variant NM_001083961.1(WDR62):c.3559G>A (p.Val1187Met) 587784557 MedGen:C1858535,OMIM:604317 19 36103387 36103387 G A 169527 single nucleotide variant NM_001083961.1(WDR62):c.3559G>A (p.Val1187Met) 587784557 MedGen:C1858535,OMIM:604317 19 36594289 36594289 G A 169528 single nucleotide variant NM_001083961.1(WDR62):c.3573C>T (p.Asp1191=) 1054040 MedGen:C1858535,OMIM:604317 19 36103401 36103401 C T 169528 single nucleotide variant NM_001083961.1(WDR62):c.3573C>T (p.Asp1191=) 1054040 MedGen:C1858535,OMIM:604317 19 36594303 36594303 C T 169529 single nucleotide variant NM_001083961.1(WDR62):c.3611G>T (p.Gly1204Val) 587784559 MedGen:C1858535,OMIM:604317 19 36103439 36103439 G T 169529 single nucleotide variant NM_001083961.1(WDR62):c.3611G>T (p.Gly1204Val) 587784559 MedGen:C1858535,OMIM:604317 19 36594341 36594341 G T 169530 single nucleotide variant NM_001083961.1(WDR62):c.3639C>T (p.Ser1213=) 45470992 MedGen:CN239163;MedGen:CN169374 19 36103467 36103467 C T 169530 single nucleotide variant NM_001083961.1(WDR62):c.3639C>T (p.Ser1213=) 45470992 MedGen:CN239163;MedGen:CN169374 19 36594369 36594369 C T 169531 single nucleotide variant NM_001083961.1(WDR62):c.3674G>A (p.Arg1225His) 61743589 MedGen:CN239163;MedGen:CN169374 19 36103502 36103502 G A 169531 single nucleotide variant NM_001083961.1(WDR62):c.3674G>A (p.Arg1225His) 61743589 MedGen:CN239163;MedGen:CN169374 19 36594404 36594404 G A 169532 single nucleotide variant NM_001083961.1(WDR62):c.3698C>G (p.Ser1233Cys) 587784560 MedGen:C1858535,OMIM:604317 19 36103526 36103526 C G 169532 single nucleotide variant NM_001083961.1(WDR62):c.3698C>G (p.Ser1233Cys) 587784560 MedGen:C1858535,OMIM:604317 19 36594428 36594428 C G 169533 single nucleotide variant NM_001083961.1(WDR62):c.3948G>A (p.Gln1316=) 4375791 MedGen:C1858535,OMIM:604317 19 36594678 36594678 G A 169533 single nucleotide variant NM_001083961.1(WDR62):c.3948G>A (p.Gln1316=) 4375791 MedGen:C1858535,OMIM:604317 19 36103776 36103776 G A 169534 single nucleotide variant NM_001083961.1(WDR62):c.4123G>A (p.Gly1375Ser) 17851503 MedGen:CN239163;MedGen:CN169374 19 36103951 36103951 G A 169534 single nucleotide variant NM_001083961.1(WDR62):c.4123G>A (p.Gly1375Ser) 17851503 MedGen:CN239163;MedGen:CN169374 19 36594853 36594853 G A 169535 single nucleotide variant NM_001083961.1(WDR62):c.4153+37C>G 58041656 MedGen:CN169374 19 36594920 36594920 C G 169535 single nucleotide variant NM_001083961.1(WDR62):c.4153+37C>G 58041656 MedGen:CN169374 19 36104018 36104018 C G 169536 single nucleotide variant NM_001083961.1(WDR62):c.4159C>A (p.Leu1387Ile) 147652186 MedGen:CN239163;MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36595425 36595425 C A 169536 single nucleotide variant NM_001083961.1(WDR62):c.4159C>A (p.Leu1387Ile) 147652186 MedGen:CN239163;MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36104523 36104523 C A 169537 single nucleotide variant NM_001083961.1(WDR62):c.4170A>C (p.Leu1390Phe) 1008328 MedGen:CN239163;MedGen:CN169374 19 36595436 36595436 A C 169537 single nucleotide variant NM_001083961.1(WDR62):c.4170A>C (p.Leu1390Phe) 1008328 MedGen:CN239163;MedGen:CN169374 19 36104534 36104534 A C 169538 single nucleotide variant NM_001083961.1(WDR62):c.4312-5T>G 182467995 MedGen:CN239163;MedGen:CN169374 19 36595665 36595665 T G 169538 single nucleotide variant NM_001083961.1(WDR62):c.4312-5T>G 182467995 MedGen:CN239163;MedGen:CN169374 19 36104763 36104763 T G 169539 single nucleotide variant NM_001083961.1(WDR62):c.4381T>G (p.Trp1461Gly) 61734910 MedGen:C1858535,OMIM:604317 19 36595739 36595739 T G 169539 single nucleotide variant NM_001083961.1(WDR62):c.4381T>G (p.Trp1461Gly) 61734910 MedGen:C1858535,OMIM:604317 19 36104837 36104837 T G 169540 single nucleotide variant NM_001083961.1(WDR62):c.*5G>A 61740165 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36595935 36595935 G A 169540 single nucleotide variant NM_001083961.1(WDR62):c.*5G>A 61740165 MedGen:C1858535,OMIM:604317;MedGen:CN169374 19 36105033 36105033 G A 178156 single nucleotide variant NM_001083961.1(WDR62):c.1228G>T (p.Val410Leu) 139460397 MedGen:CN169374 19 36564428 36564428 G T 178156 single nucleotide variant NM_001083961.1(WDR62):c.1228G>T (p.Val410Leu) 139460397 MedGen:CN169374 19 36073526 36073526 G T 178157 single nucleotide variant NM_001083961.1(WDR62):c.1233+7C>G 537771936 MedGen:CN169374 19 36564440 36564440 C G 178157 single nucleotide variant NM_001083961.1(WDR62):c.1233+7C>G 537771936 MedGen:CN169374 19 36073538 36073538 C G 190321 single nucleotide variant NM_001083961.1(WDR62):c.28G>T (p.Ala10Ser) 774912957 MedGen:CN169374 19 36545901 36545901 G T 190321 single nucleotide variant NM_001083961.1(WDR62):c.28G>T (p.Ala10Ser) 774912957 MedGen:CN169374 19 36054999 36054999 G T 191185 single nucleotide variant NM_001083961.1(WDR62):c.1641G>T (p.Thr547=) 2301734 MedGen:CN169374 19 36575645 36575645 G T 191185 single nucleotide variant NM_001083961.1(WDR62):c.1641G>T (p.Thr547=) 2301734 MedGen:CN169374 19 36084743 36084743 G T 191514 single nucleotide variant NM_001083961.1(WDR62):c.1769-7C>T 137919897 MedGen:CN169374 19 36579933 36579933 C T 191514 single nucleotide variant NM_001083961.1(WDR62):c.1769-7C>T 137919897 MedGen:CN169374 19 36089031 36089031 C T 191641 single nucleotide variant NM_001083961.1(WDR62):c.1873G>A (p.Val625Ile) 756425549 MedGen:CN169374 19 36580123 36580123 G A 191641 single nucleotide variant NM_001083961.1(WDR62):c.1873G>A (p.Val625Ile) 756425549 MedGen:CN169374 19 36089221 36089221 G A 191775 single nucleotide variant NM_001083961.1(WDR62):c.2016C>T (p.Asp672=) 114968951 MedGen:CN169374 19 36581404 36581404 C T 191775 single nucleotide variant NM_001083961.1(WDR62):c.2016C>T (p.Asp672=) 114968951 MedGen:CN169374 19 36090502 36090502 C T 191880 single nucleotide variant NM_001083961.1(WDR62):c.2040T>C (p.His680=) 765451882 MedGen:CN169374 19 36582107 36582107 T C 191880 single nucleotide variant NM_001083961.1(WDR62):c.2040T>C (p.His680=) 765451882 MedGen:CN169374 19 36091205 36091205 T C 191881 single nucleotide variant NM_001083961.1(WDR62):c.2112G>C (p.Ser704=) 115453534 MedGen:CN169374 19 36582179 36582179 G C 191881 single nucleotide variant NM_001083961.1(WDR62):c.2112G>C (p.Ser704=) 115453534 MedGen:CN169374 19 36091277 36091277 G C 192271 single nucleotide variant NM_001083961.1(WDR62):c.189G>T (p.Glu63Asp) 201053854 MedGen:CN169374 19 36549693 36549693 G T 192271 single nucleotide variant NM_001083961.1(WDR62):c.189G>T (p.Glu63Asp) 201053854 MedGen:CN169374 19 36058791 36058791 G T 192823 single nucleotide variant NM_001083961.1(WDR62):c.2666T>C (p.Met889Thr) 139749569 MedGen:CN169374 19 36590446 36590446 T C 192823 single nucleotide variant NM_001083961.1(WDR62):c.2666T>C (p.Met889Thr) 139749569 MedGen:CN169374 19 36099544 36099544 T C 192965 single nucleotide variant NM_001083961.1(WDR62):c.2887G>A (p.Val963Met) 113046428 MedGen:CN169374 19 36592135 36592135 G A 192965 single nucleotide variant NM_001083961.1(WDR62):c.2887G>A (p.Val963Met) 113046428 MedGen:CN169374 19 36101233 36101233 G A 193023 single nucleotide variant NM_001083961.1(WDR62):c.2976G>A (p.Ser992=) 757294519 MedGen:CN169374 19 36592570 36592570 G A 193023 single nucleotide variant NM_001083961.1(WDR62):c.2976G>A (p.Ser992=) 757294519 MedGen:CN169374 19 36101668 36101668 G A 193172 deletion NM_001083961.1(WDR62):c.3271_3273delCAC (p.His1091del) 794727435 MedGen:CN169374 19 36593689 36593691 CAC - 193172 deletion NM_001083961.1(WDR62):c.3271_3273delCAC (p.His1091del) 794727435 MedGen:CN169374 19 36102787 36102789 CAC - 193173 single nucleotide variant NM_001083961.1(WDR62):c.3232G>A (p.Ala1078Thr) 373781801 MedGen:CN169374 19 36593650 36593650 G A 193173 single nucleotide variant NM_001083961.1(WDR62):c.3232G>A (p.Ala1078Thr) 373781801 MedGen:CN169374 19 36102748 36102748 G A 193773 single nucleotide variant NM_001083961.1(WDR62):c.3786C>T (p.Gly1262=) 148415080 MedGen:CN169374 19 36594516 36594516 C T 193773 single nucleotide variant NM_001083961.1(WDR62):c.3786C>T (p.Gly1262=) 148415080 MedGen:CN169374 19 36103614 36103614 C T 193774 single nucleotide variant NM_001083961.1(WDR62):c.3812C>T (p.Ala1271Val) 111294536 MedGen:CN239163;MedGen:CN169374 19 36594542 36594542 C T 193774 single nucleotide variant NM_001083961.1(WDR62):c.3812C>T (p.Ala1271Val) 111294536 MedGen:CN239163;MedGen:CN169374 19 36103640 36103640 C T 193929 single nucleotide variant NM_001083961.1(WDR62):c.4403C>T (p.Ala1468Val) 148312358 MedGen:CN169374 19 36595761 36595761 C T 193929 single nucleotide variant NM_001083961.1(WDR62):c.4403C>T (p.Ala1468Val) 148312358 MedGen:CN169374 19 36104859 36104859 C T 196215 duplication NM_001083961.1(WDR62):c.1233+6dupC 373693641 MedGen:CN239163;MedGen:CN169374 19 36073546 36073546 C CC 196215 duplication NM_001083961.1(WDR62):c.1233+6dupC 373693641 MedGen:CN239163;MedGen:CN169374 19 36564448 36564448 C CC 196216 single nucleotide variant NM_001083961.1(WDR62):c.1170C>T (p.Asp390=) 794727965 MedGen:CN169374 19 36564370 36564370 C T 196216 single nucleotide variant NM_001083961.1(WDR62):c.1170C>T (p.Asp390=) 794727965 MedGen:CN169374 19 36073468 36073468 C T 205490 single nucleotide variant NM_001083961.1(WDR62):c.2030T>C (p.Leu677Pro) 863223377 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 19 36090516 36090516 T C 205490 single nucleotide variant NM_001083961.1(WDR62):c.2030T>C (p.Leu677Pro) 863223377 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 19 36581418 36581418 T C 205491 single nucleotide variant NM_001083961.1(WDR62):c.2515C>T (p.Arg839Trp) 377731205 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 19 36097074 36097074 C T 205491 single nucleotide variant NM_001083961.1(WDR62):c.2515C>T (p.Arg839Trp) 377731205 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 19 36587976 36587976 C T 205492 single nucleotide variant NM_001083961.1(WDR62):c.3304C>T (p.Gln1102Ter) 376633424 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 19 36593722 36593722 C T 205492 single nucleotide variant NM_001083961.1(WDR62):c.3304C>T (p.Gln1102Ter) 376633424 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 19 36102820 36102820 C T 208567 deletion NM_001083961.1(WDR62):c.269+12delA 797046108 MedGen:CN239163;MedGen:CN169374 19 36549785 36549785 A - 208567 deletion NM_001083961.1(WDR62):c.269+12delA 797046108 MedGen:CN239163;MedGen:CN169374 19 36058883 36058883 A - 208568 single nucleotide variant NM_001083961.1(WDR62):c.413G>A (p.Arg138His) 199673795 MedGen:CN169374 19 36066279 36066279 G A 208568 single nucleotide variant NM_001083961.1(WDR62):c.413G>A (p.Arg138His) 199673795 MedGen:CN169374 19 36557181 36557181 G A 208569 single nucleotide variant NM_001083961.1(WDR62):c.656G>A (p.Arg219His) 375979418 MedGen:CN169374 19 36558302 36558302 G A 208569 single nucleotide variant NM_001083961.1(WDR62):c.656G>A (p.Arg219His) 375979418 MedGen:CN169374 19 36067400 36067400 G A 208570 deletion NM_001083961.1(WDR62):c.1233+15delC 797046106 MedGen:CN239163;MedGen:CN169374 19 36073546 36073546 C - 208570 deletion NM_001083961.1(WDR62):c.1233+15delC 797046106 MedGen:CN239163;MedGen:CN169374 19 36564448 36564448 C - 208571 single nucleotide variant NM_001083961.1(WDR62):c.1359C>T (p.Asn453=) 148667984 MedGen:CN239163;MedGen:CN169374 19 36572460 36572460 C T 208571 single nucleotide variant NM_001083961.1(WDR62):c.1359C>T (p.Asn453=) 148667984 MedGen:CN239163;MedGen:CN169374 19 36081558 36081558 C T 208572 single nucleotide variant NM_001083961.1(WDR62):c.1509C>T (p.Asp503=) 758922011 MedGen:CN169374 19 36083200 36083200 C T 208572 single nucleotide variant NM_001083961.1(WDR62):c.1509C>T (p.Asp503=) 758922011 MedGen:CN169374 19 36574102 36574102 C T 208573 single nucleotide variant NM_001083961.1(WDR62):c.1667G>T (p.Ser556Ile) 780553760 MedGen:CN169374 19 36086711 36086711 G T 208573 single nucleotide variant NM_001083961.1(WDR62):c.1667G>T (p.Ser556Ile) 780553760 MedGen:CN169374 19 36577613 36577613 G T 208574 single nucleotide variant NM_001083961.1(WDR62):c.2057C>T (p.Thr686Ile) 797046107 MedGen:CN169374 19 36091222 36091222 C T 208574 single nucleotide variant NM_001083961.1(WDR62):c.2057C>T (p.Thr686Ile) 797046107 MedGen:CN169374 19 36582124 36582124 C T 208575 deletion NM_001083961.1(WDR62):c.3348delC (p.Phe1117Serfs) 797046109 MedGen:C1858535,OMIM:604317 19 36102960 36102960 C - 208575 deletion NM_001083961.1(WDR62):c.3348delC (p.Phe1117Serfs) 797046109 MedGen:C1858535,OMIM:604317 19 36593862 36593862 C - 208576 single nucleotide variant NM_001083961.1(WDR62):c.3612C>T (p.Gly1204=) 139946168 MedGen:CN239163;MedGen:CN169374 19 36103440 36103440 C T 208576 single nucleotide variant NM_001083961.1(WDR62):c.3612C>T (p.Gly1204=) 139946168 MedGen:CN239163;MedGen:CN169374 19 36594342 36594342 C T 208577 single nucleotide variant NM_001083961.1(WDR62):c.3818C>T (p.Thr1273Ile) 797046110 MedGen:CN169374 19 36103646 36103646 C T 208577 single nucleotide variant NM_001083961.1(WDR62):c.3818C>T (p.Thr1273Ile) 797046110 MedGen:CN169374 19 36594548 36594548 C T 208578 single nucleotide variant NM_001083961.1(WDR62):c.4187G>A (p.Arg1396His) 372272053 MedGen:CN169374 19 36104551 36104551 G A 208578 single nucleotide variant NM_001083961.1(WDR62):c.4187G>A (p.Arg1396His) 372272053 MedGen:CN169374 19 36595453 36595453 G A 208579 single nucleotide variant NM_001083961.1(WDR62):c.4564G>A (p.Gly1522Arg) 142600079 MedGen:CN169374 19 36105020 36105020 G A 208579 single nucleotide variant NM_001083961.1(WDR62):c.4564G>A (p.Gly1522Arg) 142600079 MedGen:CN169374 19 36595922 36595922 G A 215565 single nucleotide variant NM_001083961.1(WDR62):c.109G>C (p.Ala37Pro) 864309566 MedGen:CN169374 19 36545982 36545982 G C 215565 single nucleotide variant NM_001083961.1(WDR62):c.109G>C (p.Ala37Pro) 864309566 MedGen:CN169374 19 36055080 36055080 G C 264845 single nucleotide variant NM_001083961.1(WDR62):c.2467+2T>G 886041863 MedGen:CN221809 19 36585068 36585068 T G 264845 single nucleotide variant NM_001083961.1(WDR62):c.2467+2T>G 886041863 MedGen:CN221809 19 36094166 36094166 T G 265067 single nucleotide variant NM_001083961.1(WDR62):c.1941C>A (p.Cys647Ter) 769688376 MedGen:CN221809 19 36580191 36580191 C A 265067 single nucleotide variant NM_001083961.1(WDR62):c.1941C>A (p.Cys647Ter) 769688376 MedGen:CN221809 19 36089289 36089289 C A 266596 single nucleotide variant NM_001083961.1(WDR62):c.477G>A (p.Ala159=) 146485488 MedGen:CN169374 19 36557245 36557245 G A 266596 single nucleotide variant NM_001083961.1(WDR62):c.477G>A (p.Ala159=) 146485488 MedGen:CN169374 19 36066343 36066343 G A 268026 single nucleotide variant NM_001083961.1(WDR62):c.4338C>T (p.Thr1446=) 149289227 MedGen:CN169374 19 36595696 36595696 C T 268026 single nucleotide variant NM_001083961.1(WDR62):c.4338C>T (p.Thr1446=) 149289227 MedGen:CN169374 19 36104794 36104794 C T 268084 single nucleotide variant NM_001083961.1(WDR62):c.3162G>A (p.Pro1054=) 200232641 MedGen:CN169374 19 36592995 36592995 G A 268084 single nucleotide variant NM_001083961.1(WDR62):c.3162G>A (p.Pro1054=) 200232641 MedGen:CN169374 19 36102093 36102093 G A 268438 single nucleotide variant NM_001083961.1(WDR62):c.2766C>T (p.Arg922=) 373906889 MedGen:CN169374 19 36591676 36591676 C T 268438 single nucleotide variant NM_001083961.1(WDR62):c.2766C>T (p.Arg922=) 373906889 MedGen:CN169374 19 36100774 36100774 C T 268831 single nucleotide variant NM_001083961.1(WDR62):c.3231C>T (p.Pro1077=) 187029707 MedGen:CN239163;MedGen:CN169374 19 36593649 36593649 C T 268831 single nucleotide variant NM_001083961.1(WDR62):c.3231C>T (p.Pro1077=) 187029707 MedGen:CN239163;MedGen:CN169374 19 36102747 36102747 C T 270189 single nucleotide variant NM_001083961.1(WDR62):c.4481A>G (p.Tyr1494Cys) 886043267 MedGen:CN169374 19 36595839 36595839 A G 270189 single nucleotide variant NM_001083961.1(WDR62):c.4481A>G (p.Tyr1494Cys) 886043267 MedGen:CN169374 19 36104937 36104937 A G 271182 single nucleotide variant NM_001083961.1(WDR62):c.1342T>A (p.Ser448Thr) 144072948 MedGen:CN169374 19 36572443 36572443 T A 271182 single nucleotide variant NM_001083961.1(WDR62):c.1342T>A (p.Ser448Thr) 144072948 MedGen:CN169374 19 36081541 36081541 T A 271188 single nucleotide variant NM_001083961.1(WDR62):c.2580C>T (p.Pro860=) 886043531 MedGen:CN169374 19 36590360 36590360 C T 271188 single nucleotide variant NM_001083961.1(WDR62):c.2580C>T (p.Pro860=) 886043531 MedGen:CN169374 19 36099458 36099458 C T 271302 single nucleotide variant NM_001083961.1(WDR62):c.2610A>G (p.Gln870=) 886043560 MedGen:CN169374 19 36590390 36590390 A G 271302 single nucleotide variant NM_001083961.1(WDR62):c.2610A>G (p.Gln870=) 886043560 MedGen:CN169374 19 36099488 36099488 A G 271356 single nucleotide variant NM_001083961.1(WDR62):c.4549C>T (p.Arg1517Trp) 373621531 MedGen:CN169374 19 36595907 36595907 C T 271356 single nucleotide variant NM_001083961.1(WDR62):c.4549C>T (p.Arg1517Trp) 373621531 MedGen:CN169374 19 36105005 36105005 C T 274075 single nucleotide variant NM_001083961.1(WDR62):c.37G>C (p.Asp13His) 886044286 MedGen:CN169374 19 36545910 36545910 G C 274075 single nucleotide variant NM_001083961.1(WDR62):c.37G>C (p.Asp13His) 886044286 MedGen:CN169374 19 36055008 36055008 G C 274652 single nucleotide variant NM_001083961.1(WDR62):c.82C>T (p.Arg28Trp) 200283315 MedGen:CN169374 19 36545955 36545955 C T 274652 single nucleotide variant NM_001083961.1(WDR62):c.82C>T (p.Arg28Trp) 200283315 MedGen:CN169374 19 36055053 36055053 C T 333226 single nucleotide variant NM_001083961.1(WDR62):c.253G>A (p.Val85Met) 146274964 MedGen:CN239163 19 36058855 36058855 G A 333226 single nucleotide variant NM_001083961.1(WDR62):c.253G>A (p.Val85Met) 146274964 MedGen:CN239163 19 36549757 36549757 G A 333227 single nucleotide variant NM_001083961.1(WDR62):c.1479C>T (p.Ala493=) 150656878 MedGen:CN239163 19 36083170 36083170 C T 333227 single nucleotide variant NM_001083961.1(WDR62):c.1479C>T (p.Ala493=) 150656878 MedGen:CN239163 19 36574072 36574072 C T 333234 single nucleotide variant NM_001083961.1(WDR62):c.2605G>A (p.Gly869Ser) 377052586 MedGen:CN239163 19 36099483 36099483 G A 333234 single nucleotide variant NM_001083961.1(WDR62):c.2605G>A (p.Gly869Ser) 377052586 MedGen:CN239163 19 36590385 36590385 G A 333239 single nucleotide variant NM_001083961.1(WDR62):c.3536C>T (p.Ala1179Val) 372642550 MedGen:CN239163 19 36594266 36594266 C T 333239 single nucleotide variant NM_001083961.1(WDR62):c.3536C>T (p.Ala1179Val) 372642550 MedGen:CN239163 19 36103364 36103364 C T 333241 single nucleotide variant NM_001083961.1(WDR62):c.4144C>T (p.Pro1382Ser) 772768990 MedGen:CN239163 19 36594874 36594874 C T 333241 single nucleotide variant NM_001083961.1(WDR62):c.4144C>T (p.Pro1382Ser) 772768990 MedGen:CN239163 19 36103972 36103972 C T 333242 single nucleotide variant NM_001083961.1(WDR62):c.4339G>A (p.Gly1447Arg) 769860430 MedGen:CN239185;MedGen:CN239163;MedGen:CN239428 19 36595697 36595697 G A 333242 single nucleotide variant NM_001083961.1(WDR62):c.4339G>A (p.Gly1447Arg) 769860430 MedGen:CN239185;MedGen:CN239163;MedGen:CN239428 19 36104795 36104795 G A 333254 single nucleotide variant NM_001083961.1(WDR62):c.4546G>A (p.Val1516Met) 369708392 MedGen:CN239163 19 36105002 36105002 G A 333254 single nucleotide variant NM_001083961.1(WDR62):c.4546G>A (p.Val1516Met) 369708392 MedGen:CN239163 19 36595904 36595904 G A 333265 single nucleotide variant NM_001083961.1(WDR62):c.*45G>A 769679657 MedGen:CN239163 19 36105073 36105073 G A 333265 single nucleotide variant NM_001083961.1(WDR62):c.*45G>A 769679657 MedGen:CN239163 19 36595975 36595975 G A 333266 single nucleotide variant NM_001083961.1(WDR62):c.*45G>C 769679657 MedGen:CN239185;MedGen:CN239163;MedGen:CN239428 19 36105073 36105073 G C 333266 single nucleotide variant NM_001083961.1(WDR62):c.*45G>C 769679657 MedGen:CN239185;MedGen:CN239163;MedGen:CN239428 19 36595975 36595975 G C 343319 single nucleotide variant NM_001083961.1(WDR62):c.10G>C (p.Val4Leu) 147077663 MedGen:CN239163 19 36054981 36054981 G C 343319 single nucleotide variant NM_001083961.1(WDR62):c.10G>C (p.Val4Leu) 147077663 MedGen:CN239163 19 36545883 36545883 G C 343335 single nucleotide variant NM_001083961.1(WDR62):c.820T>G (p.Tyr274Asp) 746156911 MedGen:CN239163 19 36067948 36067948 T G 343335 single nucleotide variant NM_001083961.1(WDR62):c.820T>G (p.Tyr274Asp) 746156911 MedGen:CN239163 19 36558850 36558850 T G 343337 single nucleotide variant NM_001083961.1(WDR62):c.821A>G (p.Tyr274Cys) 886054357 MedGen:CN239163 19 36067949 36067949 A G 343337 single nucleotide variant NM_001083961.1(WDR62):c.821A>G (p.Tyr274Cys) 886054357 MedGen:CN239163 19 36558851 36558851 A G 343340 single nucleotide variant NM_001083961.1(WDR62):c.1064C>T (p.Ala355Val) 764859949 MedGen:CN239163 19 36073362 36073362 C T 343340 single nucleotide variant NM_001083961.1(WDR62):c.1064C>T (p.Ala355Val) 764859949 MedGen:CN239163 19 36564264 36564264 C T 343342 single nucleotide variant NM_001083961.1(WDR62):c.3220+4G>C 199678831 MedGen:CN239185;MedGen:CN239163;MedGen:CN239428 19 36593057 36593057 G C 343342 single nucleotide variant NM_001083961.1(WDR62):c.3220+4G>C 199678831 MedGen:CN239185;MedGen:CN239163;MedGen:CN239428 19 36102155 36102155 G C 343343 single nucleotide variant NM_001083961.1(WDR62):c.3360G>A (p.Arg1120=) 886054361 MedGen:CN239163 19 36593874 36593874 G A 343343 single nucleotide variant NM_001083961.1(WDR62):c.3360G>A (p.Arg1120=) 886054361 MedGen:CN239163 19 36102972 36102972 G A 343346 single nucleotide variant NM_001083961.1(WDR62):c.3724G>A (p.Val1242Met) 143493857 MedGen:CN239163 19 36594454 36594454 G A 343346 single nucleotide variant NM_001083961.1(WDR62):c.3724G>A (p.Val1242Met) 143493857 MedGen:CN239163 19 36103552 36103552 G A 343349 single nucleotide variant NM_001083961.1(WDR62):c.3810C>T (p.Thr1270=) 765881142 MedGen:CN239163 19 36594540 36594540 C T 343349 single nucleotide variant NM_001083961.1(WDR62):c.3810C>T (p.Thr1270=) 765881142 MedGen:CN239163 19 36103638 36103638 C T 343351 single nucleotide variant NM_001083961.1(WDR62):c.4296C>T (p.Leu1432=) 765001215 MedGen:CN239163 19 36595562 36595562 C T 343351 single nucleotide variant NM_001083961.1(WDR62):c.4296C>T (p.Leu1432=) 765001215 MedGen:CN239163 19 36104660 36104660 C T 343353 single nucleotide variant NM_001083961.1(WDR62):c.4464G>A (p.Pro1488=) 754718956 MedGen:CN239163 19 36595822 36595822 G A 343353 single nucleotide variant NM_001083961.1(WDR62):c.4464G>A (p.Pro1488=) 754718956 MedGen:CN239163 19 36104920 36104920 G A 348629 single nucleotide variant NM_001083961.1(WDR62):c.1489G>A (p.Val497Ile) 886054358 MedGen:CN239163 19 36083180 36083180 G A 348629 single nucleotide variant NM_001083961.1(WDR62):c.1489G>A (p.Val497Ile) 886054358 MedGen:CN239163 19 36574082 36574082 G A 348630 single nucleotide variant NM_001083961.1(WDR62):c.1642+9G>A 112789274 MedGen:CN239163 19 36084753 36084753 G A 348630 single nucleotide variant NM_001083961.1(WDR62):c.1642+9G>A 112789274 MedGen:CN239163 19 36575655 36575655 G A 348631 single nucleotide variant NM_001083961.1(WDR62):c.2007C>T (p.Ser669=) 765652491 MedGen:CN239163 19 36090493 36090493 C T 348631 single nucleotide variant NM_001083961.1(WDR62):c.2007C>T (p.Ser669=) 765652491 MedGen:CN239163 19 36581395 36581395 C T 348634 single nucleotide variant NM_001083961.1(WDR62):c.2972A>T (p.Asp991Val) 749528768 MedGen:CN239163 19 36101664 36101664 A T 348634 single nucleotide variant NM_001083961.1(WDR62):c.2972A>T (p.Asp991Val) 749528768 MedGen:CN239163 19 36592566 36592566 A T 348635 single nucleotide variant NM_001083961.1(WDR62):c.3537G>A (p.Ala1179=) 201341594 MedGen:CN239163 19 36594267 36594267 G A 348635 single nucleotide variant NM_001083961.1(WDR62):c.3537G>A (p.Ala1179=) 201341594 MedGen:CN239163 19 36103365 36103365 G A 348638 single nucleotide variant NM_001083961.1(WDR62):c.4266C>T (p.His1422=) 886054362 MedGen:CN239163 19 36595532 36595532 C T 348638 single nucleotide variant NM_001083961.1(WDR62):c.4266C>T (p.His1422=) 886054362 MedGen:CN239163 19 36104630 36104630 C T 348639 single nucleotide variant NM_001083961.1(WDR62):c.4312T>A (p.Leu1438Met) 138814793 MedGen:CN239163 19 36595670 36595670 T A 348639 single nucleotide variant NM_001083961.1(WDR62):c.4312T>A (p.Leu1438Met) 138814793 MedGen:CN239163 19 36104768 36104768 T A 348641 single nucleotide variant NM_001083961.1(WDR62):c.4329G>A (p.Gln1443=) 771131709 MedGen:CN239163 19 36595687 36595687 G A 348641 single nucleotide variant NM_001083961.1(WDR62):c.4329G>A (p.Gln1443=) 771131709 MedGen:CN239163 19 36104785 36104785 G A 349700 single nucleotide variant NM_001083961.1(WDR62):c.699+11G>C 886054356 MedGen:CN239163 19 36558356 36558356 G C 349700 single nucleotide variant NM_001083961.1(WDR62):c.699+11G>C 886054356 MedGen:CN239163 19 36067454 36067454 G C 349703 single nucleotide variant NM_001083961.1(WDR62):c.791G>A (p.Arg264Gln) 765050364 MedGen:CN239163 19 36067919 36067919 G A 349703 single nucleotide variant NM_001083961.1(WDR62):c.791G>A (p.Arg264Gln) 765050364 MedGen:CN239163 19 36558821 36558821 G A 349704 single nucleotide variant NM_001083961.1(WDR62):c.1521G>A (p.Leu507=) 778207666 MedGen:CN239163 19 36083212 36083212 G A 349704 single nucleotide variant NM_001083961.1(WDR62):c.1521G>A (p.Leu507=) 778207666 MedGen:CN239163 19 36574114 36574114 G A 349707 single nucleotide variant NM_001083961.1(WDR62):c.1977C>T (p.Asn659=) 79238222 MedGen:CN239163 19 36090463 36090463 C T 349707 single nucleotide variant NM_001083961.1(WDR62):c.1977C>T (p.Asn659=) 79238222 MedGen:CN239163 19 36581365 36581365 C T 349708 single nucleotide variant NM_001083961.1(WDR62):c.2521-13G>C 79646208 MedGen:CN239163 19 36099386 36099386 G C 349708 single nucleotide variant NM_001083961.1(WDR62):c.2521-13G>C 79646208 MedGen:CN239163 19 36590288 36590288 G C 349711 single nucleotide variant NM_001083961.1(WDR62):c.2787C>T (p.Pro929=) 886054359 MedGen:CN239163 19 36100795 36100795 C T 349711 single nucleotide variant NM_001083961.1(WDR62):c.2787C>T (p.Pro929=) 886054359 MedGen:CN239163 19 36591697 36591697 C T 349712 single nucleotide variant NM_001083961.1(WDR62):c.3161C>G (p.Pro1054Arg) 777428608 MedGen:CN239163 19 36102092 36102092 C G 349712 single nucleotide variant NM_001083961.1(WDR62):c.3161C>G (p.Pro1054Arg) 777428608 MedGen:CN239163 19 36592994 36592994 C G 349715 single nucleotide variant NM_001083961.1(WDR62):c.3302C>T (p.Thr1101Met) 147484315 MedGen:CN239163 19 36102818 36102818 C T 349715 single nucleotide variant NM_001083961.1(WDR62):c.3302C>T (p.Thr1101Met) 147484315 MedGen:CN239163 19 36593720 36593720 C T 349716 single nucleotide variant NM_001083961.1(WDR62):c.3356C>T (p.Pro1119Leu) 886054360 MedGen:CN239163 19 36102968 36102968 C T 349716 single nucleotide variant NM_001083961.1(WDR62):c.3356C>T (p.Pro1119Leu) 886054360 MedGen:CN239163 19 36593870 36593870 C T 360406 single nucleotide variant NM_001083961.1(WDR62):c.778T>C (p.Cys260Arg) 757091694 MedGen:CN221809 19 36558808 36558808 T C 360406 single nucleotide variant NM_001083961.1(WDR62):c.778T>C (p.Cys260Arg) 757091694 MedGen:CN221809 19 36067906 36067906 T C 360412 single nucleotide variant NM_001083961.1(WDR62):c.3937G>A (p.Val1313Met) 144440621 MedGen:CN169374 19 36103765 36103765 G A 360412 single nucleotide variant NM_001083961.1(WDR62):c.3937G>A (p.Val1313Met) 144440621 MedGen:CN169374 19 36594667 36594667 G A 361556 single nucleotide variant NM_001083961.1(WDR62):c.3763G>A (p.Val1255Ile) 146180208 MedGen:CN221809 19 36103591 36103591 G A 361556 single nucleotide variant NM_001083961.1(WDR62):c.3763G>A (p.Val1255Ile) 146180208 MedGen:CN221809 19 36594493 36594493 G A

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 19 36558113 rs12608517 T C rs12608517 4.16E-05 Rheumatoid arthritis HPOID:0001370 DOID:7148 C intron GWASdb_trait 19 36563057 rs2023865 C T rs2023865 2.60E-04 Myopia (pathological) HPOID:0000545 DOID:11830 C intron GWASdb_trait 19 36563749 rs7245762 T C rs7245762 3.28E-04 Myopia (pathological) HPOID:0000545 DOID:11830 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000075702.16 WDR62 613583