Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17475 single nucleotide variant NM_001173464.1(KIF21A):c.2860C>T (p.Arg954Trp) 121912585 MedGen:C1851102,OMIM:135700;MedGen:C2751105;MedGen:CN221809 12 39726207 39726207 G A 17475 single nucleotide variant NM_001173464.1(KIF21A):c.2860C>T (p.Arg954Trp) 121912585 MedGen:C1851102,OMIM:135700;MedGen:C2751105;MedGen:CN221809 12 39332405 39332405 G A 17476 single nucleotide variant NM_001173464.1(KIF21A):c.2861G>A (p.Arg954Gln) 121912586 MedGen:C1851102,OMIM:135700;MedGen:C2751105 12 39726206 39726206 C T 17476 single nucleotide variant NM_001173464.1(KIF21A):c.2861G>A (p.Arg954Gln) 121912586 MedGen:C1851102,OMIM:135700;MedGen:C2751105 12 39332404 39332404 C T 17477 single nucleotide variant NM_001173464.1(KIF21A):c.3029T>C (p.Ile1010Thr) 121912587 MedGen:C1851102,OMIM:135700 12 39726038 39726038 A G 17477 single nucleotide variant NM_001173464.1(KIF21A):c.3029T>C (p.Ile1010Thr) 121912587 MedGen:C1851102,OMIM:135700 12 39332236 39332236 A G 17478 single nucleotide variant NM_001173464.1(KIF21A):c.1067T>C (p.Met356Thr) 121912588 MedGen:C1851102,OMIM:135700 12 39752128 39752128 A G 17478 single nucleotide variant NM_001173464.1(KIF21A):c.1067T>C (p.Met356Thr) 121912588 MedGen:C1851102,OMIM:135700 12 39358326 39358326 A G 17479 single nucleotide variant NM_001173464.1(KIF21A):c.2839A>G (p.Met947Val) 121912589 MedGen:C1851102,OMIM:135700 12 39726410 39726410 T C 17479 single nucleotide variant NM_001173464.1(KIF21A):c.2839A>G (p.Met947Val) 121912589 MedGen:C1851102,OMIM:135700 12 39332608 39332608 T C 17480 single nucleotide variant NM_001173464.1(KIF21A):c.2840T>G (p.Met947Arg) 121912590 MedGen:C1851102,OMIM:135700 12 39726409 39726409 A C 17480 single nucleotide variant NM_001173464.1(KIF21A):c.2840T>G (p.Met947Arg) 121912590 MedGen:C1851102,OMIM:135700 12 39332607 39332607 A C 17481 single nucleotide variant NM_001173464.1(KIF21A):c.2841G>A (p.Met947Ile) 267607200 MedGen:C2751105 12 39726408 39726408 C T 17481 single nucleotide variant NM_001173464.1(KIF21A):c.2841G>A (p.Met947Ile) 267607200 MedGen:C2751105 12 39332606 39332606 C T 217277 single nucleotide variant NM_001173464.1(KIF21A):c.84C>G (p.Cys28Trp) 864321718 MedGen:C1851102,OMIM:135700 12 39764024 39764024 G C 217277 single nucleotide variant NM_001173464.1(KIF21A):c.84C>G (p.Cys28Trp) 864321718 MedGen:C1851102,OMIM:135700 12 39370222 39370222 G C 223637 single nucleotide variant NM_001173464.1(KIF21A):c.2287G>A (p.Val763Met) 869025264 Human Phenotype Ontology:HP:0000526,MedGen:CN000492 12 39733990 39733990 C T 223637 single nucleotide variant NM_001173464.1(KIF21A):c.2287G>A (p.Val763Met) 869025264 Human Phenotype Ontology:HP:0000526,MedGen:CN000492 12 39340188 39340188 C T 316957 single nucleotide variant NM_017641.3(KIF21A):c.*707A>G 536139187 MedGen:CN043677 12 39687519 39687519 T C 316957 single nucleotide variant NM_017641.3(KIF21A):c.*707A>G 536139187 MedGen:CN043677 12 39293717 39293717 T C 316959 deletion NM_017641.3(KIF21A):c.*690delT 201147142 MedGen:CN043677 12 39687536 39687536 A - 316959 deletion NM_017641.3(KIF21A):c.*690delT 201147142 MedGen:CN043677 12 39293734 39293734 A - 316961 single nucleotide variant NM_017641.3(KIF21A):c.*418A>G 77242017 MedGen:CN043677 12 39294006 39294006 T C 316961 single nucleotide variant NM_017641.3(KIF21A):c.*418A>G 77242017 MedGen:CN043677 12 39687808 39687808 T C 316978 duplication NM_017641.3(KIF21A):c.3302-5dupT 71075059 MedGen:CN043677 12 39720131 39720131 A AA 316978 duplication NM_017641.3(KIF21A):c.3302-5dupT 71075059 MedGen:CN043677 12 39326329 39326329 A AA 316980 single nucleotide variant NM_017641.3(KIF21A):c.3293T>C (p.Val1098Ala) 150294289 MedGen:CN043677 12 39330250 39330250 A G 316980 single nucleotide variant NM_017641.3(KIF21A):c.3293T>C (p.Val1098Ala) 150294289 MedGen:CN043677 12 39724052 39724052 A G 316981 single nucleotide variant NM_017641.3(KIF21A):c.3072C>T (p.Ala1024=) 145404005 MedGen:CN043677 12 39331732 39331732 G A 316981 single nucleotide variant NM_017641.3(KIF21A):c.3072C>T (p.Ala1024=) 145404005 MedGen:CN043677 12 39725534 39725534 G A 316983 single nucleotide variant NM_017641.3(KIF21A):c.2743C>T (p.Arg915Cys) 749644826 MedGen:CN043677 12 39332665 39332665 G A 316983 single nucleotide variant NM_017641.3(KIF21A):c.2743C>T (p.Arg915Cys) 749644826 MedGen:CN043677 12 39726467 39726467 G A 316984 single nucleotide variant NM_017641.3(KIF21A):c.2502A>G (p.Lys834=) 145897823 MedGen:CN043677 12 39333054 39333054 T C 316984 single nucleotide variant NM_017641.3(KIF21A):c.2502A>G (p.Lys834=) 145897823 MedGen:CN043677 12 39726856 39726856 T C 316986 single nucleotide variant NM_017641.3(KIF21A):c.1628A>G (p.Lys543Arg) 149219011 MedGen:CN043677 12 39745624 39745624 T C 316986 single nucleotide variant NM_017641.3(KIF21A):c.1628A>G (p.Lys543Arg) 149219011 MedGen:CN043677 12 39351822 39351822 T C 316987 single nucleotide variant NM_017641.3(KIF21A):c.1542G>A (p.Ala514=) 199973182 MedGen:CN043677 12 39745710 39745710 C T 316987 single nucleotide variant NM_017641.3(KIF21A):c.1542G>A (p.Ala514=) 199973182 MedGen:CN043677 12 39351908 39351908 C T 316988 single nucleotide variant NM_017641.3(KIF21A):c.1160A>G (p.Asn387Ser) 745692702 MedGen:CN043677 12 39358233 39358233 T C 316988 single nucleotide variant NM_017641.3(KIF21A):c.1160A>G (p.Asn387Ser) 745692702 MedGen:CN043677 12 39752035 39752035 T C 316992 single nucleotide variant NM_017641.3(KIF21A):c.-19A>G 139423015 MedGen:CN043677 12 39442989 39442989 T C 316992 single nucleotide variant NM_017641.3(KIF21A):c.-19A>G 139423015 MedGen:CN043677 12 39836791 39836791 T C 316994 single nucleotide variant NM_017641.3(KIF21A):c.-147C>A 886049348 MedGen:CN043677 12 39443117 39443117 G T 316994 single nucleotide variant NM_017641.3(KIF21A):c.-147C>A 886049348 MedGen:CN043677 12 39836919 39836919 G T 316995 single nucleotide variant NM_017641.3(KIF21A):c.-203C>G 886049349 MedGen:CN043677 12 39443173 39443173 G C 316995 single nucleotide variant NM_017641.3(KIF21A):c.-203C>G 886049349 MedGen:CN043677 12 39836975 39836975 G C 317001 single nucleotide variant NM_017641.3(KIF21A):c.-245C>T 886049350 MedGen:CN043677 12 39443215 39443215 G A 317001 single nucleotide variant NM_017641.3(KIF21A):c.-245C>T 886049350 MedGen:CN043677 12 39837017 39837017 G A 317002 single nucleotide variant NM_017641.3(KIF21A):c.-313G>A 11835359 MedGen:CN043677 12 39443283 39443283 C T 317002 single nucleotide variant NM_017641.3(KIF21A):c.-313G>A 11835359 MedGen:CN043677 12 39837085 39837085 C T 317007 single nucleotide variant NM_017641.3(KIF21A):c.-335C>G 886049351 MedGen:CN043677 12 39443305 39443305 G C 317007 single nucleotide variant NM_017641.3(KIF21A):c.-335C>G 886049351 MedGen:CN043677 12 39837107 39837107 G C 317009 single nucleotide variant NM_017641.3(KIF21A):c.-339C>A 886049352 MedGen:CN043677 12 39443309 39443309 G T 317009 single nucleotide variant NM_017641.3(KIF21A):c.-339C>A 886049352 MedGen:CN043677 12 39837111 39837111 G T 317013 single nucleotide variant NM_017641.3(KIF21A):c.-345G>A 886049353 MedGen:CN043677 12 39443315 39443315 C T 317013 single nucleotide variant NM_017641.3(KIF21A):c.-345G>A 886049353 MedGen:CN043677 12 39837117 39837117 C T 324575 single nucleotide variant NM_017641.3(KIF21A):c.*1010T>C 886049332 MedGen:CN043677 12 39293414 39293414 A G 324575 single nucleotide variant NM_017641.3(KIF21A):c.*1010T>C 886049332 MedGen:CN043677 12 39687216 39687216 A G 324576 single nucleotide variant NM_017641.3(KIF21A):c.*812T>C 532231850 MedGen:CN043677 12 39687414 39687414 A G 324576 single nucleotide variant NM_017641.3(KIF21A):c.*812T>C 532231850 MedGen:CN043677 12 39293612 39293612 A G 324579 single nucleotide variant NM_017641.3(KIF21A):c.*472A>G 11171674 MedGen:CN043677 12 39687754 39687754 T C 324579 single nucleotide variant NM_017641.3(KIF21A):c.*472A>G 11171674 MedGen:CN043677 12 39293952 39293952 T C 324599 single nucleotide variant NM_017641.3(KIF21A):c.*451A>G 183559712 MedGen:CN043677 12 39687775 39687775 T C 324599 single nucleotide variant NM_017641.3(KIF21A):c.*451A>G 183559712 MedGen:CN043677 12 39293973 39293973 T C 324605 single nucleotide variant NM_017641.3(KIF21A):c.*447A>G 74088336 MedGen:CN043677 12 39293977 39293977 T C 324605 single nucleotide variant NM_017641.3(KIF21A):c.*447A>G 74088336 MedGen:CN043677 12 39687779 39687779 T C 324606 single nucleotide variant NM_017641.3(KIF21A):c.4497T>C (p.Thr1499=) 144103791 MedGen:CN043677 12 39304845 39304845 A G 324606 single nucleotide variant NM_017641.3(KIF21A):c.4497T>C (p.Thr1499=) 144103791 MedGen:CN043677 12 39698647 39698647 A G 324609 single nucleotide variant NM_017641.3(KIF21A):c.4432C>T (p.His1478Tyr) 748150530 MedGen:CN043677 12 39304910 39304910 G A 324609 single nucleotide variant NM_017641.3(KIF21A):c.4432C>T (p.His1478Tyr) 748150530 MedGen:CN043677 12 39698712 39698712 G A 324610 single nucleotide variant NM_017641.3(KIF21A):c.3672G>T (p.Glu1224Asp) 75223821 MedGen:CN043677 12 39319974 39319974 C A 324610 single nucleotide variant NM_017641.3(KIF21A):c.3672G>T (p.Glu1224Asp) 75223821 MedGen:CN043677 12 39713776 39713776 C A 324611 single nucleotide variant NM_017641.3(KIF21A):c.3602C>G (p.Pro1201Arg) 149075970 MedGen:CN043677 12 39322698 39322698 G C 324611 single nucleotide variant NM_017641.3(KIF21A):c.3602C>G (p.Pro1201Arg) 149075970 MedGen:CN043677 12 39716500 39716500 G C 324616 single nucleotide variant NM_017641.3(KIF21A):c.3110A>G (p.Asn1037Ser) 142268373 MedGen:CN043677 12 39331694 39331694 T C 324616 single nucleotide variant NM_017641.3(KIF21A):c.3110A>G (p.Asn1037Ser) 142268373 MedGen:CN043677 12 39725496 39725496 T C 324622 single nucleotide variant NM_017641.3(KIF21A):c.3079C>T (p.Leu1027=) 79512568 MedGen:CN043677 12 39331725 39331725 G A 324622 single nucleotide variant NM_017641.3(KIF21A):c.3079C>T (p.Leu1027=) 79512568 MedGen:CN043677 12 39725527 39725527 G A 324623 single nucleotide variant NM_017641.3(KIF21A):c.2705T>C (p.Ile902Thr) 886049344 MedGen:CN043677 12 39332703 39332703 A G 324623 single nucleotide variant NM_017641.3(KIF21A):c.2705T>C (p.Ile902Thr) 886049344 MedGen:CN043677 12 39726505 39726505 A G 324626 single nucleotide variant NM_017641.3(KIF21A):c.2448+5A>T 376142046 MedGen:CN043677 12 39333207 39333207 T A 324626 single nucleotide variant NM_017641.3(KIF21A):c.2448+5A>T 376142046 MedGen:CN043677 12 39727009 39727009 T A 324629 single nucleotide variant NM_017641.3(KIF21A):c.2266A>G (p.Thr756Ala) 200645253 MedGen:CN043677 12 39733972 39733972 T C 324629 single nucleotide variant NM_017641.3(KIF21A):c.2266A>G (p.Thr756Ala) 200645253 MedGen:CN043677 12 39340170 39340170 T C 324630 single nucleotide variant NM_017641.3(KIF21A):c.1847G>T (p.Ser616Ile) 765856120 MedGen:CN043677 12 39735342 39735342 C A 324630 single nucleotide variant NM_017641.3(KIF21A):c.1847G>T (p.Ser616Ile) 765856120 MedGen:CN043677 12 39341540 39341540 C A 324635 single nucleotide variant NM_017641.3(KIF21A):c.1841G>T (p.Gly614Val) 79089655 MedGen:CN043677 12 39735348 39735348 C A 324635 single nucleotide variant NM_017641.3(KIF21A):c.1841G>T (p.Gly614Val) 79089655 MedGen:CN043677 12 39341546 39341546 C A 324636 single nucleotide variant NM_017641.3(KIF21A):c.1674-11C>G 142304324 MedGen:CN043677 12 39735937 39735937 G C 324636 single nucleotide variant NM_017641.3(KIF21A):c.1674-11C>G 142304324 MedGen:CN043677 12 39342135 39342135 G C 324637 single nucleotide variant NM_017641.3(KIF21A):c.1321G>A (p.Ala441Thr) 886049345 MedGen:CN043677 12 39357332 39357332 C T 324637 single nucleotide variant NM_017641.3(KIF21A):c.1321G>A (p.Ala441Thr) 886049345 MedGen:CN043677 12 39751134 39751134 C T 324657 single nucleotide variant NM_017641.3(KIF21A):c.825C>T (p.Leu275=) 143876096 MedGen:CN043677 12 39366428 39366428 G A 324657 single nucleotide variant NM_017641.3(KIF21A):c.825C>T (p.Leu275=) 143876096 MedGen:CN043677 12 39760230 39760230 G A 324658 single nucleotide variant NM_017641.3(KIF21A):c.-31C>T 554379231 MedGen:CN043677 12 39443001 39443001 G A 324658 single nucleotide variant NM_017641.3(KIF21A):c.-31C>T 554379231 MedGen:CN043677 12 39836803 39836803 G A 324662 single nucleotide variant NM_017641.3(KIF21A):c.-165G>T 111306046 MedGen:CN043677 12 39443135 39443135 C A 324662 single nucleotide variant NM_017641.3(KIF21A):c.-165G>T 111306046 MedGen:CN043677 12 39836937 39836937 C A 324663 single nucleotide variant NM_017641.3(KIF21A):c.-195A>G 532130145 MedGen:CN043677 12 39443165 39443165 T C 324663 single nucleotide variant NM_017641.3(KIF21A):c.-195A>G 532130145 MedGen:CN043677 12 39836967 39836967 T C 324676 single nucleotide variant NM_017641.3(KIF21A):c.-411G>A 145372857 MedGen:CN043677 12 39443381 39443381 C T 324676 single nucleotide variant NM_017641.3(KIF21A):c.-411G>A 145372857 MedGen:CN043677 12 39837183 39837183 C T 330780 single nucleotide variant NM_017641.3(KIF21A):c.*1157A>T 886049330 MedGen:CN043677 12 39293267 39293267 T A 330780 single nucleotide variant NM_017641.3(KIF21A):c.*1157A>T 886049330 MedGen:CN043677 12 39687069 39687069 T A 330781 single nucleotide variant NM_017641.3(KIF21A):c.*1022A>T 886049331 MedGen:CN043677 12 39293402 39293402 T A 330781 single nucleotide variant NM_017641.3(KIF21A):c.*1022A>T 886049331 MedGen:CN043677 12 39687204 39687204 T A 330785 single nucleotide variant NM_017641.3(KIF21A):c.*690T>C 886049336 MedGen:CN043677 12 39687536 39687536 A G 330785 single nucleotide variant NM_017641.3(KIF21A):c.*690T>C 886049336 MedGen:CN043677 12 39293734 39293734 A G 330787 single nucleotide variant NM_017641.3(KIF21A):c.*326T>A 886049337 MedGen:CN043677 12 39294098 39294098 A T 330787 single nucleotide variant NM_017641.3(KIF21A):c.*326T>A 886049337 MedGen:CN043677 12 39687900 39687900 A T 330788 single nucleotide variant NM_017641.3(KIF21A):c.*237A>G 11171675 MedGen:CN043677 12 39294187 39294187 T C 330788 single nucleotide variant NM_017641.3(KIF21A):c.*237A>G 11171675 MedGen:CN043677 12 39687989 39687989 T C 330796 single nucleotide variant NM_017641.3(KIF21A):c.*211C>G 886049338 MedGen:CN043677 12 39294213 39294213 G C 330796 single nucleotide variant NM_017641.3(KIF21A):c.*211C>G 886049338 MedGen:CN043677 12 39688015 39688015 G C 330804 single nucleotide variant NM_017641.3(KIF21A):c.4922G>T (p.Arg1641Leu) 373406994 MedGen:CN043677 12 39294488 39294488 C A 330804 single nucleotide variant NM_017641.3(KIF21A):c.4922G>T (p.Arg1641Leu) 373406994 MedGen:CN043677 12 39688290 39688290 C A 330805 single nucleotide variant NM_017641.3(KIF21A):c.4489A>C (p.Ile1497Leu) 886049340 MedGen:CN043677 12 39304853 39304853 T G 330805 single nucleotide variant NM_017641.3(KIF21A):c.4489A>C (p.Ile1497Leu) 886049340 MedGen:CN043677 12 39698655 39698655 T G 330815 single nucleotide variant NM_017641.3(KIF21A):c.3833C>A (p.Thr1278Asn) 886049342 MedGen:CN043677 12 39711911 39711911 G T 330815 single nucleotide variant NM_017641.3(KIF21A):c.3833C>A (p.Thr1278Asn) 886049342 MedGen:CN043677 12 39318109 39318109 G T 330819 single nucleotide variant NM_017641.3(KIF21A):c.3281-4A>T 371915160 MedGen:CN043677 12 39330266 39330266 T A 330819 single nucleotide variant NM_017641.3(KIF21A):c.3281-4A>T 371915160 MedGen:CN043677 12 39724068 39724068 T A 330825 single nucleotide variant NM_017641.3(KIF21A):c.2496T>A (p.Ala832=) 148166854 MedGen:CN043677 12 39333060 39333060 A T 330825 single nucleotide variant NM_017641.3(KIF21A):c.2496T>A (p.Ala832=) 148166854 MedGen:CN043677 12 39726862 39726862 A T 330827 single nucleotide variant NM_017641.3(KIF21A):c.2453C>T (p.Thr818Met) 764601859 MedGen:CN043677 12 39333103 39333103 G A 330827 single nucleotide variant NM_017641.3(KIF21A):c.2453C>T (p.Thr818Met) 764601859 MedGen:CN043677 12 39726905 39726905 G A 330828 single nucleotide variant NM_017641.3(KIF21A):c.2271+10A>G 201113357 MedGen:CN043677 12 39340155 39340155 T C 330828 single nucleotide variant NM_017641.3(KIF21A):c.2271+10A>G 201113357 MedGen:CN043677 12 39733957 39733957 T C 330829 single nucleotide variant NM_017641.3(KIF21A):c.1737G>A (p.Ser579=) 143782701 MedGen:CN043677 12 39735863 39735863 C T 330829 single nucleotide variant NM_017641.3(KIF21A):c.1737G>A (p.Ser579=) 143782701 MedGen:CN043677 12 39342061 39342061 C T 330833 single nucleotide variant NM_017641.3(KIF21A):c.1469+10A>G 73266501 MedGen:CN043677 12 39750624 39750624 T C 330833 single nucleotide variant NM_017641.3(KIF21A):c.1469+10A>G 73266501 MedGen:CN043677 12 39356822 39356822 T C 330838 single nucleotide variant NM_017641.3(KIF21A):c.975T>C (p.Asp325=) 143790968 MedGen:CN043677 12 39363142 39363142 A G 330838 single nucleotide variant NM_017641.3(KIF21A):c.975T>C (p.Asp325=) 143790968 MedGen:CN043677 12 39756944 39756944 A G 330845 single nucleotide variant NM_017641.3(KIF21A):c.578G>A (p.Arg193His) 770064077 MedGen:CN043677 12 39367905 39367905 C T 330845 single nucleotide variant NM_017641.3(KIF21A):c.578G>A (p.Arg193His) 770064077 MedGen:CN043677 12 39761707 39761707 C T 330846 single nucleotide variant NM_017641.3(KIF21A):c.-210C>T 113038492 MedGen:CN043677 12 39443180 39443180 G A 330846 single nucleotide variant NM_017641.3(KIF21A):c.-210C>T 113038492 MedGen:CN043677 12 39836982 39836982 G A 332181 single nucleotide variant NM_017641.3(KIF21A):c.*935A>G 886049333 MedGen:CN043677 12 39293489 39293489 T C 332181 single nucleotide variant NM_017641.3(KIF21A):c.*935A>G 886049333 MedGen:CN043677 12 39687291 39687291 T C 332182 duplication NM_017641.3(KIF21A):c.*845dupT 886049334 MedGen:CN043677 12 39687381 39687381 A AA 332182 duplication NM_017641.3(KIF21A):c.*845dupT 886049334 MedGen:CN043677 12 39293579 39293579 A AA 332191 duplication NM_017641.3(KIF21A):c.*690dupT 886049335 MedGen:CN043677 12 39687536 39687536 A AA 332191 duplication NM_017641.3(KIF21A):c.*690dupT 886049335 MedGen:CN043677 12 39293734 39293734 A AA 332199 single nucleotide variant NM_017641.3(KIF21A):c.*645T>G 554887830 MedGen:CN043677 12 39687581 39687581 A C 332199 single nucleotide variant NM_017641.3(KIF21A):c.*645T>G 554887830 MedGen:CN043677 12 39293779 39293779 A C 332201 single nucleotide variant NM_017641.3(KIF21A):c.4852G>A (p.Ala1618Thr) 886049339 MedGen:CN043677 12 39301520 39301520 C T 332201 single nucleotide variant NM_017641.3(KIF21A):c.4852G>A (p.Ala1618Thr) 886049339 MedGen:CN043677 12 39695322 39695322 C T 332206 single nucleotide variant NM_017641.3(KIF21A):c.4729C>T (p.Leu1577=) 2271477 MedGen:CN043677 12 39301643 39301643 G A 332206 single nucleotide variant NM_017641.3(KIF21A):c.4729C>T (p.Leu1577=) 2271477 MedGen:CN043677 12 39695445 39695445 G A 332217 single nucleotide variant NM_017641.3(KIF21A):c.4523T>G (p.Met1508Arg) 142038295 MedGen:CN043677 12 39303134 39303134 A C 332217 single nucleotide variant NM_017641.3(KIF21A):c.4523T>G (p.Met1508Arg) 142038295 MedGen:CN043677 12 39696936 39696936 A C 332227 single nucleotide variant NM_017641.3(KIF21A):c.4503C>G (p.Ser1501=) 11171689 MedGen:CN043677 12 39304839 39304839 G C 332227 single nucleotide variant NM_017641.3(KIF21A):c.4503C>G (p.Ser1501=) 11171689 MedGen:CN043677 12 39698641 39698641 G C 332228 single nucleotide variant NM_017641.3(KIF21A):c.4238C>T (p.Thr1413Met) 781214904 MedGen:CN043677 12 39309586 39309586 G A 332228 single nucleotide variant NM_017641.3(KIF21A):c.4238C>T (p.Thr1413Met) 781214904 MedGen:CN043677 12 39703388 39703388 G A 332229 single nucleotide variant NM_017641.3(KIF21A):c.4225A>G (p.Ile1409Val) 886049341 MedGen:CN043677 12 39309599 39309599 T C 332229 single nucleotide variant NM_017641.3(KIF21A):c.4225A>G (p.Ile1409Val) 886049341 MedGen:CN043677 12 39703401 39703401 T C 332231 single nucleotide variant NM_017641.3(KIF21A):c.4005A>G (p.Lys1335=) 201297981 MedGen:CN043677 12 39311469 39311469 T C 332231 single nucleotide variant NM_017641.3(KIF21A):c.4005A>G (p.Lys1335=) 201297981 MedGen:CN043677 12 39705271 39705271 T C 332235 single nucleotide variant NM_017641.3(KIF21A):c.3920G>A (p.Arg1307Lys) 142879430 MedGen:CN043677 12 39315229 39315229 C T 332235 single nucleotide variant NM_017641.3(KIF21A):c.3920G>A (p.Arg1307Lys) 142879430 MedGen:CN043677 12 39709031 39709031 C T 332242 single nucleotide variant NM_017641.3(KIF21A):c.2759T>A (p.Ile920Asn) 886049343 MedGen:CN043677 12 39332649 39332649 A T 332242 single nucleotide variant NM_017641.3(KIF21A):c.2759T>A (p.Ile920Asn) 886049343 MedGen:CN043677 12 39726451 39726451 A T 332244 single nucleotide variant NM_017641.3(KIF21A):c.2392C>T (p.Leu798Phe) 779688115 MedGen:CN043677 12 39333268 39333268 G A 332244 single nucleotide variant NM_017641.3(KIF21A):c.2392C>T (p.Leu798Phe) 779688115 MedGen:CN043677 12 39727070 39727070 G A 332256 single nucleotide variant NM_017641.3(KIF21A):c.1335G>T (p.Thr445=) 61740919 MedGen:CN043677 12 39357318 39357318 C A 332256 single nucleotide variant NM_017641.3(KIF21A):c.1335G>T (p.Thr445=) 61740919 MedGen:CN043677 12 39751120 39751120 C A 332257 single nucleotide variant NM_017641.3(KIF21A):c.1240G>C (p.Gly414Arg) 78616703 MedGen:CN043677 12 39357413 39357413 C G 332257 single nucleotide variant NM_017641.3(KIF21A):c.1240G>C (p.Gly414Arg) 78616703 MedGen:CN043677 12 39751215 39751215 C G 332274 single nucleotide variant NM_017641.3(KIF21A):c.903T>A (p.Leu301=) 78806233 MedGen:CN043677 12 39366350 39366350 A T 332274 single nucleotide variant NM_017641.3(KIF21A):c.903T>A (p.Leu301=) 78806233 MedGen:CN043677 12 39760152 39760152 A T 332276 single nucleotide variant NM_017641.3(KIF21A):c.608A>G (p.Gln203Arg) 149328427 MedGen:CN043677 12 39367157 39367157 T C 332276 single nucleotide variant NM_017641.3(KIF21A):c.608A>G (p.Gln203Arg) 149328427 MedGen:CN043677 12 39760959 39760959 T C 332281 single nucleotide variant NM_017641.3(KIF21A):c.268-14G>T 762377796 MedGen:CN043677 12 39369925 39369925 C A 332281 single nucleotide variant NM_017641.3(KIF21A):c.268-14G>T 762377796 MedGen:CN043677 12 39763727 39763727 C A 332292 single nucleotide variant NM_017641.3(KIF21A):c.162A>G (p.Val54=) 754537818 MedGen:CN043677 12 39370144 39370144 T C 332292 single nucleotide variant NM_017641.3(KIF21A):c.162A>G (p.Val54=) 754537818 MedGen:CN043677 12 39763946 39763946 T C 332293 single nucleotide variant NM_017641.3(KIF21A):c.-41G>A 886049346 MedGen:CN043677 12 39443011 39443011 C T 332293 single nucleotide variant NM_017641.3(KIF21A):c.-41G>A 886049346 MedGen:CN043677 12 39836813 39836813 C T 332300 single nucleotide variant NM_017641.3(KIF21A):c.-146G>A 886049347 MedGen:CN043677 12 39443116 39443116 C T 332300 single nucleotide variant NM_017641.3(KIF21A):c.-146G>A 886049347 MedGen:CN043677 12 39836918 39836918 C T 332313 single nucleotide variant NM_017641.3(KIF21A):c.-392G>C 886049354 MedGen:CN043677 12 39443362 39443362 C G 332313 single nucleotide variant NM_017641.3(KIF21A):c.-392G>C 886049354 MedGen:CN043677 12 39837164 39837164 C G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000139116.18 KIF21A 608283