| NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000002538]|Fibrosis of extraocular muscles, congenital, 3b [RCV000002539]|KIF21A-related disorder [RCV003398420]|not provided [RCV000267056] |
Chr12:39332405 [GRCh38]
Chr12:39726207 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000002540]|Fibrosis of extraocular muscles, congenital, 3b [RCV000002541]|not provided [RCV002254900] |
Chr12:39332404 [GRCh38]
Chr12:39726206 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000002542] |
Chr12:39332236 [GRCh38]
Chr12:39726038 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000002543] |
Chr12:39358326 [GRCh38]
Chr12:39752128 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000002544] |
Chr12:39332608 [GRCh38]
Chr12:39726410 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000002545] |
Chr12:39332607 [GRCh38]
Chr12:39726409 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3b [RCV000002546] |
Chr12:39332606 [GRCh38]
Chr12:39726408 [GRCh37]
Chr12:12q12 |
pathogenic |
| GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] |
Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11 |
pathogenic |
| GRCh38/hg38 12q12(chr12:39287010-39789020)x1 |
copy number loss |
See cases [RCV000052810] |
Chr12:39287010..39789020 [GRCh38]
Chr12:39680812..40182822 [GRCh37]
Chr12:37967079..38469089 [NCBI36]
Chr12:12q12 |
pathogenic |
| NM_001173464.1(KIF21A):c.1186C>T (p.Leu396Phe) |
single nucleotide variant |
Malignant melanoma [RCV000069972] |
Chr12:39358207 [GRCh38]
Chr12:39752009 [GRCh37]
Chr12:38038276 [NCBI36]
Chr12:12q12 |
not provided |
| NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV003311584] |
Chr12:39367059 [GRCh38]
Chr12:39760861 [GRCh37]
Chr12:38047128 [NCBI36]
Chr12:12q12 |
likely pathogenic|not provided |
| NM_001173464.1(KIF21A):c.1453G>A (p.Glu485Lys) |
single nucleotide variant |
Malignant melanoma [RCV000062485] |
Chr12:39356848 [GRCh38]
Chr12:39750650 [GRCh37]
Chr12:38036917 [NCBI36]
Chr12:12q12 |
not provided |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_001173464.2(KIF21A):c.84C>G (p.Cys28Trp) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 1 [RCV000203609] |
Chr12:39370222 [GRCh38]
Chr12:39764024 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.2287G>A (p.Val763Met) |
single nucleotide variant |
Congenital aniridia [RCV000207402] |
Chr12:39340188 [GRCh38]
Chr12:39733990 [GRCh37]
Chr12:12q12 |
likely benign |
| GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 |
copy number gain |
See cases [RCV000207454] |
Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12 |
pathogenic |
| NM_001173464.2(KIF21A):c.*447A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000299937] |
Chr12:39293977 [GRCh38]
Chr12:39687779 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000302061]|not provided [RCV000954280] |
Chr12:39351822 [GRCh38]
Chr12:39745624 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.*418A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000368771] |
Chr12:39294006 [GRCh38]
Chr12:39687808 [GRCh37]
Chr12:12q12 |
benign |
| NM_017641.3(KIF21A):c.-313G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000369031]|not provided [RCV004708262] |
Chr12:39443283 [GRCh38]
Chr12:39837085 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000268861] |
Chr12:39294488 [GRCh38]
Chr12:39688290 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.578G>A (p.Arg193His) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000287713] |
Chr12:39367905 [GRCh38]
Chr12:39761707 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_001173464.2(KIF21A):c.3341-11dup |
duplication |
Congenital fibrosis of extraocular muscles [RCV000306937]|KIF21A-related disorder [RCV003977901] |
Chr12:39326328..39326329 [GRCh38]
Chr12:39720130..39720131 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.*707A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000377583] |
Chr12:39293717 [GRCh38]
Chr12:39687519 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1880G>T (p.Gly627Val) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000289132]|not provided [RCV004708260]|not specified [RCV001701946] |
Chr12:39341546 [GRCh38]
Chr12:39735348 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.3320-4A>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000271686]|not provided [RCV000939609] |
Chr12:39330266 [GRCh38]
Chr12:39724068 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.-19A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000291144] |
Chr12:39442989 [GRCh38]
Chr12:39836791 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000272319] |
Chr12:39303134 [GRCh38]
Chr12:39696936 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.903T>A (p.Leu301=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000275294]|KIF21A-related disorder [RCV003910138]|not provided [RCV000885359] |
Chr12:39366350 [GRCh38]
Chr12:39760152 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000359150]|not provided [RCV000899267] |
Chr12:39351908 [GRCh38]
Chr12:39745710 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.2310+10A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000294581] |
Chr12:39340155 [GRCh38]
Chr12:39733957 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000361240]|Inborn genetic diseases [RCV003362752] |
Chr12:39332665 [GRCh38]
Chr12:39726467 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2541A>G (p.Lys847=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000316988]|not provided [RCV000883755] |
Chr12:39333054 [GRCh38]
Chr12:39726856 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000363848]|KIF21A-related disorder [RCV003983009]|not provided [RCV000904253] |
Chr12:39330250 [GRCh38]
Chr12:39724052 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000262273]|KIF21A-related disorder [RCV003920280]|not provided [RCV000894701] |
Chr12:39357413 [GRCh38]
Chr12:39751215 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1335G>T (p.Thr445=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000297512]|not provided [RCV000959264] |
Chr12:39357318 [GRCh38]
Chr12:39751120 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.*645T>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000298623] |
Chr12:39293779 [GRCh38]
Chr12:39687581 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_017641.3(KIF21A):c.-195A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000299080] |
Chr12:39443165 [GRCh38]
Chr12:39836967 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000265966] |
Chr12:39331732 [GRCh38]
Chr12:39725534 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000319726]|Inborn genetic diseases [RCV004021541]|not provided [RCV000903904] |
Chr12:39358233 [GRCh38]
Chr12:39752035 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_001173464.2(KIF21A):c.*690del |
deletion |
Congenital fibrosis of extraocular muscles [RCV000343103] |
Chr12:39293734 [GRCh38]
Chr12:39687536 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000281670] |
Chr12:39333103 [GRCh38]
Chr12:39726905 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000320274]|KIF21A-related disorder [RCV003977900]|not provided [RCV000971586] |
Chr12:39304839 [GRCh38]
Chr12:39698641 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1469+10A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000390994]|not provided [RCV000967261] |
Chr12:39356822 [GRCh38]
Chr12:39750624 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000259437] |
Chr12:39332703 [GRCh38]
Chr12:39726505 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-392G>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000270440] |
Chr12:39443362 [GRCh38]
Chr12:39837164 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000281544] |
Chr12:39309599 [GRCh38]
Chr12:39703401 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.975T>C (p.Asp325=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000367512]|not provided [RCV000906309] |
Chr12:39363142 [GRCh38]
Chr12:39756944 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_017641.3(KIF21A):c.-210C>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000392657] |
Chr12:39443180 [GRCh38]
Chr12:39836982 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.*451A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000392819] |
Chr12:39293973 [GRCh38]
Chr12:39687775 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.*812T>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000346233] |
Chr12:39293612 [GRCh38]
Chr12:39687414 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1776G>A (p.Ser592=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000346454] |
Chr12:39342061 [GRCh38]
Chr12:39735863 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.*690dup |
duplication |
Congenital fibrosis of extraocular muscles [RCV000283178]|not provided [RCV004693103] |
Chr12:39293733..39293734 [GRCh38]
Chr12:39687535..39687536 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.268-14G>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000326294] |
Chr12:39369925 [GRCh38]
Chr12:39763727 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-411G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000327967] |
Chr12:39443381 [GRCh38]
Chr12:39837183 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000373719] |
Chr12:39309586 [GRCh38]
Chr12:39703388 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000373906] |
Chr12:39333060 [GRCh38]
Chr12:39726862 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*326T>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000274194] |
Chr12:39294098 [GRCh38]
Chr12:39687900 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1886G>T (p.Ser629Ile) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000399984] |
Chr12:39341540 [GRCh38]
Chr12:39735342 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_017641.3(KIF21A):c.-165G>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000400345]|not provided [RCV004706960] |
Chr12:39443135 [GRCh38]
Chr12:39836937 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.2487+5A>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000329721] |
Chr12:39333207 [GRCh38]
Chr12:39727009 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000352193]|Inborn genetic diseases [RCV004021540] |
Chr12:39340170 [GRCh38]
Chr12:39733972 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000351593]|not provided [RCV004708259] |
Chr12:39319974 [GRCh38]
Chr12:39713776 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000377256]|not provided [RCV000903208] |
Chr12:39304845 [GRCh38]
Chr12:39698647 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000401978] |
Chr12:39315229 [GRCh38]
Chr12:39709031 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.*1022A>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000276152] |
Chr12:39293402 [GRCh38]
Chr12:39687204 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000310515]|not provided [RCV000882518] |
Chr12:39331694 [GRCh38]
Chr12:39725496 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.825C>T (p.Leu275=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000332722] |
Chr12:39366428 [GRCh38]
Chr12:39760230 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-335C>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles [RCV000276724] |
Chr12:39443305 [GRCh38]
Chr12:39837107 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000406843]|KIF21A-related disorder [RCV003940177]|not provided [RCV003884457] |
Chr12:39322698 [GRCh38]
Chr12:39716500 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.*472A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000334900]|not provided [RCV004706957] |
Chr12:39293952 [GRCh38]
Chr12:39687754 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000335321] |
Chr12:39304910 [GRCh38]
Chr12:39698712 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000358244]|not provided [RCV000972080] |
Chr12:39331725 [GRCh38]
Chr12:39725527 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000383091]|not provided [RCV004706958] |
Chr12:39301643 [GRCh38]
Chr12:39695445 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.162A>G (p.Val54=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000383189] |
Chr12:39370144 [GRCh38]
Chr12:39763946 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.*237A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000315285]|not provided [RCV004708258] |
Chr12:39294187 [GRCh38]
Chr12:39687989 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000338655]|not provided [RCV000910507] |
Chr12:39311469 [GRCh38]
Chr12:39705271 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.-31C>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000339041] |
Chr12:39443001 [GRCh38]
Chr12:39836803 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000386473] |
Chr12:39333268 [GRCh38]
Chr12:39727070 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1713-11C>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000390001]|not provided [RCV004706959] |
Chr12:39342135 [GRCh38]
Chr12:39735937 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000389659]|Inborn genetic diseases [RCV004021542]|not provided [RCV004708261] |
Chr12:39367157 [GRCh38]
Chr12:39760959 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_001173464.2(KIF21A):c.3164C>T (p.Ala1055Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003267855] |
Chr12:39330901 [GRCh38]
Chr12:39724703 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*845dup |
duplication |
Congenital fibrosis of extraocular muscles [RCV000291274] |
Chr12:39293578..39293579 [GRCh38]
Chr12:39687380..39687381 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-339C>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000315474] |
Chr12:39443309 [GRCh38]
Chr12:39837111 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-345G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000362766] |
Chr12:39443315 [GRCh38]
Chr12:39837117 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*935A>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000381215] |
Chr12:39293489 [GRCh38]
Chr12:39687291 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*690T>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000400760] |
Chr12:39293734 [GRCh38]
Chr12:39687536 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.-146G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000285220] |
Chr12:39443116 [GRCh38]
Chr12:39836918 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*211C>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000370007] |
Chr12:39294213 [GRCh38]
Chr12:39688015 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*1157A>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000389321] |
Chr12:39293267 [GRCh38]
Chr12:39687069 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000323422] |
Chr12:39332649 [GRCh38]
Chr12:39726451 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000287324] |
Chr12:39304853 [GRCh38]
Chr12:39698655 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000354754] |
Chr12:39357332 [GRCh38]
Chr12:39751134 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-203C>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000356285] |
Chr12:39443173 [GRCh38]
Chr12:39836975 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000326200]|Inborn genetic diseases [RCV004021539] |
Chr12:39301520 [GRCh38]
Chr12:39695322 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_017641.3(KIF21A):c.-245C>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000312049] |
Chr12:39443215 [GRCh38]
Chr12:39837017 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*1010T>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000326630] |
Chr12:39293414 [GRCh38]
Chr12:39687216 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.-147C>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000342480] |
Chr12:39443117 [GRCh38]
Chr12:39836919 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000313138] |
Chr12:39318109 [GRCh38]
Chr12:39711911 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.-41G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000398354] |
Chr12:39443011 [GRCh38]
Chr12:39836813 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1066A>C (p.Met356Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002535307]|not provided [RCV000732988] |
Chr12:39358327 [GRCh38]
Chr12:39752129 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39598809-41141181)x3 |
copy number gain |
See cases [RCV000446896] |
Chr12:39598809..41141181 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 |
copy number gain |
See cases [RCV000448835] |
Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro) |
single nucleotide variant |
KIF21A-related disorder [RCV003159607]|not provided [RCV000497582] |
Chr12:39341025 [GRCh38]
Chr12:39734827 [GRCh37]
Chr12:12q12 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 |
copy number gain |
See cases [RCV000512027] |
Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12 |
likely pathogenic |
| NM_001173464.2(KIF21A):c.148A>G (p.Thr50Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003289003] |
Chr12:39370158 [GRCh38]
Chr12:39763960 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1730A>G (p.Asp577Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003287438] |
Chr12:39342107 [GRCh38]
Chr12:39735909 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3779+16T>A |
single nucleotide variant |
not specified [RCV003317799] |
Chr12:39319890 [GRCh38]
Chr12:39713692 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3 |
copy number gain |
See cases [RCV000512422] |
Chr12:37889608..41414167 [GRCh37]
Chr12:12q11-12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39452850-40084260)x3 |
copy number gain |
not provided [RCV000683444] |
Chr12:39452850..40084260 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:38207168-40145174)x1 |
copy number loss |
not provided [RCV000683466] |
Chr12:38207168..40145174 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NC_000012.11:g.26370251_54361538inv |
inversion |
not specified [RCV000714265] |
Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_001173464.2(KIF21A):c.4388G>A (p.Gly1463Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004619451]|not provided [RCV000894967] |
Chr12:39307619 [GRCh38]
Chr12:39701421 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV003311585] |
Chr12:39366406 [GRCh38]
Chr12:39760208 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1458C>A (p.Ile486=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113864] |
Chr12:39356843 [GRCh38]
Chr12:39750645 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.451-6del |
deletion |
not provided [RCV000973721] |
Chr12:39368038 [GRCh38]
Chr12:39761840 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.2685G>A (p.Pro895=) |
single nucleotide variant |
not provided [RCV000975409] |
Chr12:39332910 [GRCh38]
Chr12:39726712 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.2702+6C>T |
single nucleotide variant |
not provided [RCV000968686] |
Chr12:39332887 [GRCh38]
Chr12:39726689 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.3492G>A (p.Leu1164=) |
single nucleotide variant |
not provided [RCV000983127] |
Chr12:39322847 [GRCh38]
Chr12:39716649 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.1405+8G>C |
single nucleotide variant |
not provided [RCV000983699] |
Chr12:39357240 [GRCh38]
Chr12:39751042 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.1038A>G (p.Ala346=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109848]|not provided [RCV000926480] |
Chr12:39358355 [GRCh38]
Chr12:39752157 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.4894A>G (p.Ile1632Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003242785] |
Chr12:39301517 [GRCh38]
Chr12:39695319 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) |
duplication |
Congenital fibrosis of extraocular muscles type 1 [RCV000779101] |
Chr12:39318093..39318094 [GRCh38]
Chr12:39711895..39711896 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) |
insertion |
Congenital fibrosis of extraocular muscles type 1 [RCV000779102] |
Chr12:39318103..39318104 [GRCh38]
Chr12:39711905..39711906 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2418+2T>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV000779103] |
Chr12:39337094 [GRCh38]
Chr12:39730896 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3854A>C (p.Asn1285Thr) |
single nucleotide variant |
not provided [RCV000902855] |
Chr12:39318127 [GRCh38]
Chr12:39711929 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1851G>A (p.Glu617=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112532]|not provided [RCV000941793] |
Chr12:39341575 [GRCh38]
Chr12:39735377 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.4T>C (p.Leu2=) |
single nucleotide variant |
not provided [RCV000920446] |
Chr12:39442967 [GRCh38]
Chr12:39836769 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.4278-10A>T |
single nucleotide variant |
not provided [RCV000920756] |
Chr12:39307739 [GRCh38]
Chr12:39701541 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001111982]|KIF21A-related disorder [RCV003968163]|not provided [RCV000893947] |
Chr12:39304866 [GRCh38]
Chr12:39698668 [GRCh37]
Chr12:12q12 |
benign|likely benign |
| NM_001173464.2(KIF21A):c.1845GGA[5] (p.Glu621del) |
microsatellite |
not provided [RCV000968687] |
Chr12:39341564..39341566 [GRCh38]
Chr12:39735366..39735368 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2681C>T (p.Thr894Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004629394]|not provided [RCV000970245] |
Chr12:39332914 [GRCh38]
Chr12:39726716 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.478T>C (p.Phe160Leu) |
single nucleotide variant |
not provided [RCV000896847] |
Chr12:39368005 [GRCh38]
Chr12:39761807 [GRCh37]
Chr12:12q12 |
benign |
| GRCh37/hg19 12q12(chr12:39577315-40582797)x1 |
copy number loss |
not provided [RCV000848310] |
Chr12:39577315..40582797 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_017641.3(KIF21A):c.-257C>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113966] |
Chr12:39443227 [GRCh38]
Chr12:39837029 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113865] |
Chr12:39357374 [GRCh38]
Chr12:39751176 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3b [RCV003983812]|not provided [RCV000994895] |
Chr12:39333079 [GRCh38]
Chr12:39726881 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112436]|Inborn genetic diseases [RCV002556197] |
Chr12:39309595 [GRCh38]
Chr12:39703397 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112531] |
Chr12:39341527 [GRCh38]
Chr12:39735329 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3476C>G (p.Thr1159Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003247748] |
Chr12:39322863 [GRCh38]
Chr12:39716665 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001110553] |
Chr12:39333103 [GRCh38]
Chr12:39726905 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001110639] |
Chr12:39367915 [GRCh38]
Chr12:39761717 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.44+5G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001110642] |
Chr12:39442922 [GRCh38]
Chr12:39836724 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1104T>G (p.Ala368=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109847] |
Chr12:39358289 [GRCh38]
Chr12:39752091 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.1054G>A (p.Asp352Asn) |
single nucleotide variant |
not provided [RCV003126344] |
Chr12:39358339 [GRCh38]
Chr12:39752141 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.196A>G (p.Ile66Val) |
single nucleotide variant |
not provided [RCV003126949] |
Chr12:39370110 [GRCh38]
Chr12:39763912 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1617C>A (p.Asp539Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003240953] |
Chr12:39351833 [GRCh38]
Chr12:39745635 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4656A>G (p.Gln1552=) |
single nucleotide variant |
not provided [RCV000904783] |
Chr12:39303040 [GRCh38]
Chr12:39696842 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.2043G>A (p.Lys681=) |
single nucleotide variant |
not provided [RCV000888004] |
Chr12:39340973 [GRCh38]
Chr12:39734775 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.415G>T (p.Ala139Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002540804]|KIF21A-related disorder [RCV003923131]|not provided [RCV000910070] |
Chr12:39369764 [GRCh38]
Chr12:39763566 [GRCh37]
Chr12:12q12 |
likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.1261A>G (p.Met421Val) |
single nucleotide variant |
not provided [RCV000910155] |
Chr12:39357392 [GRCh38]
Chr12:39751194 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.1092C>T (p.Tyr364=) |
single nucleotide variant |
not provided [RCV000907329] |
Chr12:39358301 [GRCh38]
Chr12:39752103 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2900G>A (p.Arg967Lys) |
single nucleotide variant |
not provided [RCV000968252] |
Chr12:39332365 [GRCh38]
Chr12:39726167 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2093A>G (p.Gln698Arg) |
single nucleotide variant |
KIF21A-related disorder [RCV003970418]|not provided [RCV000915150] |
Chr12:39340923 [GRCh38]
Chr12:39734725 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109764]|Inborn genetic diseases [RCV004629373]|KIF21A-related disorder [RCV003950447]|not provided [RCV000894861] |
Chr12:39332911 [GRCh38]
Chr12:39726713 [GRCh37]
Chr12:12q12 |
benign|likely benign|uncertain significance |
| NM_001173464.2(KIF21A):c.4494T>C (p.Leu1498=) |
single nucleotide variant |
not provided [RCV000916740] |
Chr12:39304887 [GRCh38]
Chr12:39698689 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.*531T>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113699] |
Chr12:39293893 [GRCh38]
Chr12:39687695 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3349G>C (p.Glu1117Gln) |
single nucleotide variant |
not provided [RCV000912546] |
Chr12:39326316 [GRCh38]
Chr12:39720118 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.1545A>G (p.Pro515=) |
single nucleotide variant |
not provided [RCV000890816] |
Chr12:39351905 [GRCh38]
Chr12:39745707 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.1113C>A (p.Ile371=) |
single nucleotide variant |
not provided [RCV000957057] |
Chr12:39358280 [GRCh38]
Chr12:39752082 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.*366C>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109678] |
Chr12:39294058 [GRCh38]
Chr12:39687860 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.*71C>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109679] |
Chr12:39294353 [GRCh38]
Chr12:39688155 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.*65G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109680] |
Chr12:39294359 [GRCh38]
Chr12:39688161 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109763] |
Chr12:39331761 [GRCh38]
Chr12:39725563 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2660C>T (p.Ala887Val) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109765] |
Chr12:39332935 [GRCh38]
Chr12:39726737 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.681T>C (p.His227=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001109849] |
Chr12:39367084 [GRCh38]
Chr12:39760886 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3960-11C>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112437] |
Chr12:39311564 [GRCh38]
Chr12:39705366 [GRCh37]
Chr12:12q12 |
benign |
| NM_017641.3(KIF21A):c.-240G>C |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112621] |
Chr12:39443210 [GRCh38]
Chr12:39837012 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001110552] |
Chr12:39333092 [GRCh38]
Chr12:39726894 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001110640] |
Chr12:39370109 [GRCh38]
Chr12:39763911 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.44+15C>G |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001110641] |
Chr12:39442912 [GRCh38]
Chr12:39836714 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001111981] |
Chr12:39301597 [GRCh38]
Chr12:39695399 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112438] |
Chr12:39315964 [GRCh38]
Chr12:39709766 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113782] |
Chr12:39318139 [GRCh38]
Chr12:39711941 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.1804-15C>T |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001112533] |
Chr12:39341637 [GRCh38]
Chr12:39735439 [GRCh37]
Chr12:12q12 |
benign |
| NM_001173464.2(KIF21A):c.*582G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113698] |
Chr12:39293842 [GRCh38]
Chr12:39687644 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39580744-42470754)x3 |
copy number gain |
not provided [RCV001006496] |
Chr12:39580744..42470754 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001113783] |
Chr12:39322785 [GRCh38]
Chr12:39716587 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39078754-40577696)x4 |
copy number gain |
not provided [RCV001259136] |
Chr12:39078754..40577696 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.758T>C (p.Ile253Thr) |
single nucleotide variant |
not provided [RCV001355730] |
Chr12:39366495 [GRCh38]
Chr12:39760297 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1839AGA[1] (p.Glu621del) |
microsatellite |
not provided [RCV001356104] |
Chr12:39341582..39341584 [GRCh38]
Chr12:39735384..39735386 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 |
copy number gain |
See cases [RCV001353185] |
Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12 |
likely pathogenic |
| NM_001173464.2(KIF21A):c.4009C>A (p.Leu1337Ile) |
single nucleotide variant |
not provided [RCV001758147] |
Chr12:39311504 [GRCh38]
Chr12:39705306 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3968T>C (p.Ile1323Thr) |
single nucleotide variant |
not provided [RCV003237995] |
Chr12:39311545 [GRCh38]
Chr12:39705347 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1165C>A (p.Leu389Ile) |
single nucleotide variant |
not provided [RCV001773300] |
Chr12:39358228 [GRCh38]
Chr12:39752030 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) |
copy number gain |
not specified [RCV002052988] |
Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12 |
pathogenic |
| GRCh37/hg19 12q12(chr12:39598809-41141181) |
copy number gain |
not specified [RCV002052990] |
Chr12:39598809..41141181 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1168C>A (p.Arg390Ser) |
single nucleotide variant |
not provided [RCV002223435] |
Chr12:39358225 [GRCh38]
Chr12:39752027 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2776C>T (p.Leu926Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003275946] |
Chr12:39332671 [GRCh38]
Chr12:39726473 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1674-1G>A |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV002290127] |
Chr12:39346505 [GRCh38]
Chr12:39740307 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs) |
deletion |
Congenital fibrosis of extraocular muscles type 1 [RCV002290343] |
Chr12:39303090..39303094 [GRCh38]
Chr12:39696892..39696896 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV002288383] |
Chr12:39442961 [GRCh38]
Chr12:39836763 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39447728-40418470)x3 |
copy number gain |
not provided [RCV002473714] |
Chr12:39447728..40418470 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39792367-39965548)x1 |
copy number loss |
not provided [RCV002472920] |
Chr12:39792367..39965548 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.116C>T (p.Pro39Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002682988] |
Chr12:39370190 [GRCh38]
Chr12:39763992 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4262G>A (p.Cys1421Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002687246] |
Chr12:39309601 [GRCh38]
Chr12:39703403 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3301C>A (p.Leu1101Ile) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV003455754]|Inborn genetic diseases [RCV002945826] |
Chr12:39330764 [GRCh38]
Chr12:39724566 [GRCh37]
Chr12:12q12 |
benign|uncertain significance |
| NM_001173464.2(KIF21A):c.1307G>A (p.Arg436His) |
single nucleotide variant |
Inborn genetic diseases [RCV002753907] |
Chr12:39357346 [GRCh38]
Chr12:39751148 [GRCh37]
Chr12:12q12 |
uncertain significance |
| GRCh37/hg19 12q12(chr12:39560669-43285298)x1 |
copy number loss |
not provided [RCV002475769] |
Chr12:39560669..43285298 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1843G>A (p.Glu615Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002818896] |
Chr12:39341583 [GRCh38]
Chr12:39735385 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3055G>A (p.Glu1019Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002818429] |
Chr12:39331788 [GRCh38]
Chr12:39725590 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1158C>G (p.Ile386Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002734293] |
Chr12:39358235 [GRCh38]
Chr12:39752037 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2888A>G (p.Lys963Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002734042] |
Chr12:39332377 [GRCh38]
Chr12:39726179 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2420A>G (p.His807Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002687369] |
Chr12:39333279 [GRCh38]
Chr12:39727081 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3538G>A (p.Ala1180Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002753759] |
Chr12:39322801 [GRCh38]
Chr12:39716603 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.141G>C (p.Lys47Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002880132] |
Chr12:39370165 [GRCh38]
Chr12:39763967 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3950C>T (p.Ser1317Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002969507] |
Chr12:39315238 [GRCh38]
Chr12:39709040 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2255A>G (p.Tyr752Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002864809] |
Chr12:39340220 [GRCh38]
Chr12:39734022 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002849238] |
Chr12:39369743 [GRCh38]
Chr12:39763545 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1769G>A (p.Gly590Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002978052] |
Chr12:39342068 [GRCh38]
Chr12:39735870 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.737A>G (p.Asp246Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002869997] |
Chr12:39366516 [GRCh38]
Chr12:39760318 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2678C>T (p.Pro893Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002915426] |
Chr12:39332917 [GRCh38]
Chr12:39726719 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2497C>G (p.Leu833Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002872855] |
Chr12:39333098 [GRCh38]
Chr12:39726900 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.200A>G (p.Gln67Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002873345] |
Chr12:39370106 [GRCh38]
Chr12:39763908 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.491G>A (p.Arg164His) |
single nucleotide variant |
Inborn genetic diseases [RCV002893735] |
Chr12:39367992 [GRCh38]
Chr12:39761794 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.142G>T (p.Ala48Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002808028] |
Chr12:39370164 [GRCh38]
Chr12:39763966 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4045G>C (p.Ala1349Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002718498] |
Chr12:39311468 [GRCh38]
Chr12:39705270 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4511C>A (p.Ser1504Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002921102] |
Chr12:39304870 [GRCh38]
Chr12:39698672 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1802T>C (p.Val601Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003008759] |
Chr12:39342035 [GRCh38]
Chr12:39735837 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3537T>G (p.Asp1179Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002680517] |
Chr12:39322802 [GRCh38]
Chr12:39716604 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4310G>T (p.Cys1437Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003220781] |
Chr12:39307697 [GRCh38]
Chr12:39701499 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4373C>T (p.Ala1458Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003180278] |
Chr12:39307634 [GRCh38]
Chr12:39701436 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1855G>C (p.Glu619Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003186303] |
Chr12:39341571 [GRCh38]
Chr12:39735373 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2471G>A (p.Arg824His) |
single nucleotide variant |
Inborn genetic diseases [RCV003209612] |
Chr12:39333228 [GRCh38]
Chr12:39727030 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3164C>G (p.Ala1055Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003185788] |
Chr12:39330901 [GRCh38]
Chr12:39724703 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4372G>T (p.Ala1458Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003180277] |
Chr12:39307635 [GRCh38]
Chr12:39701437 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1961T>A (p.Ile654Asn) |
single nucleotide variant |
not provided [RCV003319049] |
Chr12:39341055 [GRCh38]
Chr12:39734857 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3373C>T (p.Pro1125Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003287483] |
Chr12:39326292 [GRCh38]
Chr12:39720094 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3162G>T (p.Gln1054His) |
single nucleotide variant |
Inborn genetic diseases [RCV003309888] |
Chr12:39330903 [GRCh38]
Chr12:39724705 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.203G>A (p.Cys68Tyr) |
single nucleotide variant |
not provided [RCV003318842] |
Chr12:39370103 [GRCh38]
Chr12:39763905 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3935C>T (p.Ser1312Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003363834] |
Chr12:39315944 [GRCh38]
Chr12:39709746 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1745A>T (p.Asp582Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003383873] |
Chr12:39342092 [GRCh38]
Chr12:39735894 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3203G>A (p.Arg1068Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003376508] |
Chr12:39330862 [GRCh38]
Chr12:39724664 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1417GAG[1] (p.Glu474del) |
microsatellite |
not specified [RCV003404966] |
Chr12:39356879..39356881 [GRCh38]
Chr12:39750681..39750683 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1063T>C (p.Phe355Leu) |
single nucleotide variant |
not provided [RCV003391708] |
Chr12:39358330 [GRCh38]
Chr12:39752132 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4428G>A (p.Met1476Ile) |
single nucleotide variant |
KIF21A-related disorder [RCV003410368] |
Chr12:39307579 [GRCh38]
Chr12:39701381 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2840T>C (p.Met947Thr) |
single nucleotide variant |
KIF21A-related disorder [RCV003402275] |
Chr12:39332607 [GRCh38]
Chr12:39726409 [GRCh37]
Chr12:12q12 |
likely pathogenic |
| NM_001173464.2(KIF21A):c.337_338insG (p.Ile113fs) |
insertion |
not provided [RCV003443230] |
Chr12:39369841..39369842 [GRCh38]
Chr12:39763643..39763644 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV003604605] |
Chr12:39333080 [GRCh38]
Chr12:39726882 [GRCh37]
Chr12:12q12 |
likely pathogenic |
| NM_001173464.2(KIF21A):c.2627C>T (p.Thr876Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004413963] |
Chr12:39332968 [GRCh38]
Chr12:39726770 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1826A>G (p.Asp609Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004413961] |
Chr12:39341600 [GRCh38]
Chr12:39735402 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1412G>A (p.Gly471Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004413960] |
Chr12:39356889 [GRCh38]
Chr12:39750691 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2766G>C (p.Lys922Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004413966] |
Chr12:39332681 [GRCh38]
Chr12:39726483 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3461G>A (p.Arg1154Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004413970] |
Chr12:39322878 [GRCh38]
Chr12:39716680 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3734A>G (p.Lys1245Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004413973] |
Chr12:39319951 [GRCh38]
Chr12:39713753 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4377A>C (p.Leu1459=) |
single nucleotide variant |
KIF21A-related disorder [RCV003939365] |
Chr12:39307630 [GRCh38]
Chr12:39701432 [GRCh37]
Chr12:12q12 |
likely benign |
| GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 |
copy number gain |
not specified [RCV003987001] |
Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11 |
pathogenic |
| NM_001173464.2(KIF21A):c.2155T>A (p.Ser719Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004413962] |
Chr12:39340320 [GRCh38]
Chr12:39734122 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4171G>A (p.Val1391Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004413975] |
Chr12:39309692 [GRCh38]
Chr12:39703494 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3306_3319+1dup |
duplication |
not provided [RCV003992980] |
Chr12:39330744..39330745 [GRCh38]
Chr12:39724546..39724547 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3836G>A (p.Arg1279Gln) |
single nucleotide variant |
KIF21A-related disorder [RCV003954844] |
Chr12:39318145 [GRCh38]
Chr12:39711947 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2636A>T (p.Gln879Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004413964] |
Chr12:39332959 [GRCh38]
Chr12:39726761 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2918A>G (p.Lys973Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004413967] |
Chr12:39332347 [GRCh38]
Chr12:39726149 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3410C>G (p.Ser1137Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004413969] |
Chr12:39325885 [GRCh38]
Chr12:39719687 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4020T>G (p.Ile1340Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004413974] |
Chr12:39311493 [GRCh38]
Chr12:39705295 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4961G>A (p.Arg1654His) |
single nucleotide variant |
Inborn genetic diseases [RCV004413976] |
Chr12:39294488 [GRCh38]
Chr12:39688290 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.763T>G (p.Ser255Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004413977] |
Chr12:39366490 [GRCh38]
Chr12:39760292 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1350G>A (p.Arg450=) |
single nucleotide variant |
KIF21A-related disorder [RCV003963899] |
Chr12:39357303 [GRCh38]
Chr12:39751105 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2584A>G (p.Thr862Ala) |
single nucleotide variant |
not specified [RCV003995008] |
Chr12:39333011 [GRCh38]
Chr12:39726813 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1074G>A (p.Thr358=) |
single nucleotide variant |
KIF21A-related disorder [RCV003959357] |
Chr12:39358319 [GRCh38]
Chr12:39752121 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.1202T>C (p.Met401Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004413959] |
Chr12:39358191 [GRCh38]
Chr12:39751993 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2765A>C (p.Lys922Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004413965] |
Chr12:39332682 [GRCh38]
Chr12:39726484 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3652C>A (p.Pro1218Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004413971] |
Chr12:39322687 [GRCh38]
Chr12:39716489 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3718C>T (p.Pro1240Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004413972] |
Chr12:39319967 [GRCh38]
Chr12:39713769 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2211A>G (p.Ala737=) |
single nucleotide variant |
KIF21A-related disorder [RCV003907370] |
Chr12:39340264 [GRCh38]
Chr12:39734066 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.3779+8A>G |
single nucleotide variant |
KIF21A-related disorder [RCV003977120] |
Chr12:39319898 [GRCh38]
Chr12:39713700 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.2407C>T (p.Arg803Cys) |
single nucleotide variant |
KIF21A-related disorder [RCV003899479] |
Chr12:39337107 [GRCh38]
Chr12:39730909 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2371del (p.Arg791fs) |
deletion |
Congenital fibrosis of extraocular muscles type 1 [RCV004546896] |
Chr12:39337143 [GRCh38]
Chr12:39730945 [GRCh37]
Chr12:12q12 |
pathogenic |
| NM_001173464.2(KIF21A):c.5012T>G (p.Ile1671Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004631390] |
Chr12:39294437 [GRCh38]
Chr12:39688239 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4331C>T (p.Thr1444Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004631391] |
Chr12:39307676 [GRCh38]
Chr12:39701478 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3325G>C (p.Asp1109His) |
single nucleotide variant |
Inborn genetic diseases [RCV004621692] |
Chr12:39330257 [GRCh38]
Chr12:39724059 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3336A>G (p.Pro1112=) |
single nucleotide variant |
not provided [RCV004599039] |
Chr12:39330246 [GRCh38]
Chr12:39724048 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.4307C>T (p.Ala1436Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004631382] |
Chr12:39307700 [GRCh38]
Chr12:39701502 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2922G>T (p.Glu974Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004631383] |
Chr12:39332343 [GRCh38]
Chr12:39726145 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2882G>A (p.Arg961Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004631384] |
Chr12:39332383 [GRCh38]
Chr12:39726185 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.1581A>G (p.Ile527Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004631385] |
Chr12:39351869 [GRCh38]
Chr12:39745671 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4252T>A (p.Ser1418Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004631386] |
Chr12:39309611 [GRCh38]
Chr12:39703413 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2855A>T (p.Lys952Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004631387] |
Chr12:39332592 [GRCh38]
Chr12:39726394 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.728T>C (p.Ile243Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004631388] |
Chr12:39367037 [GRCh38]
Chr12:39760839 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.745A>G (p.Thr249Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004631392] |
Chr12:39366508 [GRCh38]
Chr12:39760310 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.3346G>A (p.Val1116Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004631393] |
Chr12:39326319 [GRCh38]
Chr12:39720121 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2485G>A (p.Glu829Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004631394] |
Chr12:39333214 [GRCh38]
Chr12:39727016 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.455A>G (p.Tyr152Cys) |
single nucleotide variant |
not provided [RCV004722280] |
Chr12:39368028 [GRCh38]
Chr12:39761830 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.2837A>T (p.Asp946Val) |
single nucleotide variant |
not provided [RCV004774245] |
Chr12:39332610 [GRCh38]
Chr12:39726412 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.503C>A (p.Ala168Glu) |
single nucleotide variant |
not provided [RCV004773323] |
Chr12:39367980 [GRCh38]
Chr12:39761782 [GRCh37]
Chr12:12q12 |
uncertain significance |
| NM_001173464.2(KIF21A):c.4660G>A (p.Asp1554Asn) |
single nucleotide variant |
not specified [RCV004702163] |
Chr12:39303036 [GRCh38]
Chr12:39696838 [GRCh37]
Chr12:12q12 |
likely benign |
| NM_001173464.2(KIF21A):c.32G>A (p.Arg11Gln) |
single nucleotide variant |
not provided [RCV004769362] |
Chr12:39442939 [GRCh38]
Chr12:39836741 [GRCh37]
Chr12:12q12 |
uncertain significance |
