| 127275826 | CV1085734 | single nucleotide variant | NM_173354.5(SIK1):c.748+9T>A | Developmental and epileptic encephalopathy, 30 [RCV001406913] | likely benign | 21 | 43421001 | 43421001 | Human | 1 | name |
| 127278728 | CV1107457 | single nucleotide variant | NM_173354.5(SIK1):c.748+8G>A | Developmental and epileptic encephalopathy, 30 [RCV001445270] | likely benign | 21 | 43421002 | 43421002 | Human | 1 | name |
| 127237268 | CV1107463 | single nucleotide variant | NM_173354.5(SIK1):c.499+9G>T | Developmental and epileptic encephalopathy, 30 [RCV001422679] | likely benign | 21 | 43421629 | 43421629 | Human | 1 | name |
| 127304384 | CV1128860 | single nucleotide variant | NM_173354.5(SIK1):c.625-9C>T | Developmental and epileptic encephalopathy, 30 [RCV001454955] | likely benign | 21 | 43421142 | 43421142 | Human | 1 | name |
| 150541316 | CV1301383 | single nucleotide variant | NM_173354.5(SIK1):c.500-3C>G | not provided [RCV001767793] | uncertain significance | 21 | 43421370 | 43421370 | Human | | name |
| 151804830 | CV1430775 | single nucleotide variant | NM_173354.5(SIK1):c.499+4C>T | Developmental and epileptic encephalopathy, 30 [RCV001899403] | uncertain significance | 21 | 43421634 | 43421634 | Human | 1 | name |
| 151868380 | CV1438036 | single nucleotide variant | NM_173354.5(SIK1):c.624+6A>G | Developmental and epileptic encephalopathy, 30 [RCV001906159] | uncertain significance | 21 | 43421237 | 43421237 | Human | 1 | name |
| 151752318 | CV1473794 | single nucleotide variant | NM_173354.5(SIK1):c.273+4A>T | Developmental and epileptic encephalopathy, 30 [RCV001872379] | uncertain significance | 21 | 43425403 | 43425403 | Human | 1 | name |
| 151667546 | CV1498733 | single nucleotide variant | NM_173354.5(SIK1):c.749-7T>A | Developmental and epileptic encephalopathy, 30 [RCV002001451] | uncertain significance | 21 | 43420464 | 43420464 | Human | 1 | name |
| 152110788 | CV1564116 | single nucleotide variant | NM_173354.5(SIK1):c.625-5A>G | Developmental and epileptic encephalopathy, 30 [RCV002174308] | likely benign | 21 | 43421138 | 43421138 | Human | 1 | name |
| 152085687 | CV1621068 | single nucleotide variant | NM_173354.5(SIK1):c.273+7G>A | Developmental and epileptic encephalopathy, 30 [RCV002193602] | likely benign | 21 | 43425400 | 43425400 | Human | 1 | name |
| 152095926 | CV1661816 | single nucleotide variant | NM_173354.5(SIK1):c.273+8G>A | Developmental and epileptic encephalopathy, 30 [RCV002172448] | likely benign | 21 | 43425399 | 43425399 | Human | 1 | name |
| 156150285 | CV1878921 | single nucleotide variant | NM_173354.5(SIK1):c.500-7C>T | Developmental and epileptic encephalopathy, 30 [RCV003056506] | likely benign | 21 | 43421374 | 43421374 | Human | 1 | name |
| 156040224 | CV1929532 | single nucleotide variant | NM_173354.5(SIK1):c.156+7G>A | Developmental and epileptic encephalopathy, 30 [RCV002637544] | likely benign | 21 | 43426016 | 43426016 | Human | 1 | name |
| 156280865 | CV1967917 | single nucleotide variant | NM_173354.5(SIK1):c.156+5G>T | Developmental and epileptic encephalopathy, 30 [RCV002598390] | uncertain significance | 21 | 43426018 | 43426018 | Human | 1 | name |
| 156365064 | CV2010665 | deletion | NM_173354.5(SIK1):c.499+4del | Developmental and epileptic encephalopathy, 30 [RCV002676503] | uncertain significance | 21 | 43421634 | 43421634 | Human | 1 | name |
| 156222232 | CV2115186 | single nucleotide variant | NM_173354.5(SIK1):c.749-4A>C | Developmental and epileptic encephalopathy, 30 [RCV002932502] | likely benign | 21 | 43420461 | 43420461 | Human | 1 | name |
| 405197518 | CV2873450 | single nucleotide variant | NM_173354.5(SIK1):c.273+4A>C | Developmental and epileptic encephalopathy, 30 [RCV003590762] | uncertain significance | 21 | 43425403 | 43425403 | Human | 1 | name |
| 405197456 | CV2880505 | single nucleotide variant | NM_173354.5(SIK1):c.274-5T>C | Developmental and epileptic encephalopathy, 30 [RCV003590729] | likely benign | 21 | 43422042 | 43422042 | Human | 1 | name |
| 405176433 | CV2889095 | single nucleotide variant | NM_173354.5(SIK1):c.500-2A>G | Developmental and epileptic encephalopathy, 30 [RCV003588150] | uncertain significance | 21 | 43421369 | 43421369 | Human | 1 | name |
| 405200754 | CV2930286 | single nucleotide variant | NM_173354.5(SIK1):c.500-6G>A | Developmental and epileptic encephalopathy, 30 [RCV003591120] | likely benign | 21 | 43421373 | 43421373 | Human | 1 | name |
| 405109157 | CV2951192 | single nucleotide variant | NM_173354.5(SIK1):c.499+4C>G | Developmental and epileptic encephalopathy, 30 [RCV003751170] | uncertain significance | 21 | 43421634 | 43421634 | Human | 1 | name |
| 405115325 | CV3008251 | single nucleotide variant | NM_173354.5(SIK1):c.274-6C>A | Developmental and epileptic encephalopathy, 30 [RCV003752224] | likely benign | 21 | 43422043 | 43422043 | Human | 1 | name |
| 405115631 | CV3010041 | single nucleotide variant | NM_173354.5(SIK1):c.625-6C>T | Developmental and epileptic encephalopathy, 30 [RCV003752321] | likely benign | 21 | 43421139 | 43421139 | Human | 1 | name |
| 405117040 | CV3026181 | single nucleotide variant | NM_173354.5(SIK1):c.624+3A>G | Developmental and epileptic encephalopathy, 30 [RCV003752507] | uncertain significance | 21 | 43421240 | 43421240 | Human | 1 | name |
| 405105986 | CV3036108 | deletion | NM_173354.5(SIK1):c.157-5del | Developmental and epileptic encephalopathy, 30 [RCV003750394] | likely benign | 21 | 43425528 | 43425528 | Human | 1 | name |
| 405110226 | CV3062589 | single nucleotide variant | NM_173354.5(SIK1):c.973-5C>G | Developmental and epileptic encephalopathy, 30 [RCV003751331] | likely benign | 21 | 43420010 | 43420010 | Human | 1 | name |
| 12848976 | CV363952 | deletion | NM_173354.5(SIK1):c.274-3del | Developmental and epileptic encephalopathy, 30 [RCV001080379]|Inborn genetic diseases [RCV002318375]|not provided [RCV000421813] | benign|likely benign | 21 | 43422040 | 43422040 | Human | 2 | name |
| 597887955 | CV3739191 | single nucleotide variant | NM_173354.5(SIK1):c.624+5G>C | Developmental and epileptic encephalopathy, 30 [RCV005070738] | uncertain significance | 21 | 43421238 | 43421238 | Human | 1 | name |
| 597908833 | CV3781628 | single nucleotide variant | NM_173354.5(SIK1):c.337+7C>T | Developmental and epileptic encephalopathy, 30 [RCV005128316] | likely benign | 21 | 43421967 | 43421967 | Human | 1 | name |
| 597896346 | CV3786075 | single nucleotide variant | NM_173354.5(SIK1):c.337+1G>A | Developmental and epileptic encephalopathy, 30 [RCV005126449] | uncertain significance | 21 | 43421973 | 43421973 | Human | 1 | name |
| 13625285 | CV533931 | single nucleotide variant | NM_173354.5(SIK1):c.748+7C>T | Developmental and epileptic encephalopathy, 30 [RCV000653196] | likely benign | 21 | 43421003 | 43421003 | Human | 1 | name |
| 14725775 | CV653570 | single nucleotide variant | NM_173354.5(SIK1):c.273+6G>C | Developmental and epileptic encephalopathy, 30 [RCV000815353] | uncertain significance | 21 | 43425401 | 43425401 | Human | 1 | name |
| 15159237 | CV745349 | single nucleotide variant | NM_173354.5(SIK1):c.338-9G>T | Developmental and epileptic encephalopathy, 30 [RCV000902894] | likely benign | 21 | 43421808 | 43421808 | Human | 1 | name |
| 15131794 | CV776736 | single nucleotide variant | NM_173354.5(SIK1):c.273+8G>T | Developmental and epileptic encephalopathy, 30 [RCV000942287] | benign | 21 | 43425399 | 43425399 | Human | 1 | name |
| 15113551 | CV788305 | single nucleotide variant | NM_173354.5(SIK1):c.500-6G>T | Developmental and epileptic encephalopathy, 30 [RCV000978041] | likely benign | 21 | 43421373 | 43421373 | Human | 1 | name |
| 26884862 | CV853007 | single nucleotide variant | NM_173354.5(SIK1):c.274-3T>A | Developmental and epileptic encephalopathy, 30 [RCV001043197] | uncertain significance | 21 | 43422040 | 43422040 | Human | 1 | name |
| 126914065 | CV1051912 | single nucleotide variant | NM_173354.5(SIK1):c.1976+5G>T | Developmental and epileptic encephalopathy, 30 [RCV001359400] | uncertain significance | 21 | 43417538 | 43417538 | Human | 1 | name |
| 127270929 | CV1085725 | single nucleotide variant | NM_173354.5(SIK1):c.1976+8C>T | Developmental and epileptic encephalopathy, 30 [RCV001405205] | likely benign | 21 | 43417535 | 43417535 | Human | 1 | name |
| 127239338 | CV1107449 | single nucleotide variant | NM_173354.5(SIK1):c.1463-6C>T | Developmental and epileptic encephalopathy, 30 [RCV001423105] | likely benign | 21 | 43418547 | 43418547 | Human | 1 | name |
| 127259640 | CV1107450 | single nucleotide variant | NM_173354.5(SIK1):c.1463-8C>T | Developmental and epileptic encephalopathy, 30 [RCV001438392] | likely benign | 21 | 43418549 | 43418549 | Human | 1 | name |
| 127252227 | CV1107453 | single nucleotide variant | NM_173354.5(SIK1):c.1120-9C>T | Developmental and epileptic encephalopathy, 30 [RCV001436740] | likely benign | 21 | 43419487 | 43419487 | Human | 1 | name |
| 127265321 | CV1107465 | single nucleotide variant | NM_173354.5(SIK1):c.157-10A>G | Developmental and epileptic encephalopathy, 30 [RCV001429040] | likely benign | 21 | 43425533 | 43425533 | Human | 1 | name |
| 127334608 | CV1128853 | single nucleotide variant | NM_173354.5(SIK1):c.1463-5C>A | Developmental and epileptic encephalopathy, 30 [RCV001473693]|Inborn genetic diseases [RCV002396118] | likely benign|uncertain significance | 21 | 43418546 | 43418546 | Human | 2 | name |
| 127314051 | CV1128854 | single nucleotide variant | NM_173354.5(SIK1):c.1462+9C>A | Developmental and epileptic encephalopathy, 30 [RCV001457597] | likely benign | 21 | 43419012 | 43419012 | Human | 1 | name |
| 127330133 | CV1149826 | single nucleotide variant | NM_173354.5(SIK1):c.1120-4C>G | Developmental and epileptic encephalopathy, 30 [RCV001487882] | likely benign | 21 | 43419482 | 43419482 | Human | 1 | name |
| 151351856 | CV1323686 | single nucleotide variant | NM_173354.5(SIK1):c.749-45C>G | Developmental and epileptic encephalopathy, 30 [RCV001807595]|not provided [RCV004713108]|not specified [RCV004598148] | benign | 21 | 43420502 | 43420502 | Human | 1 | name |
| 151351858 | CV1323687 | single nucleotide variant | NM_173354.5(SIK1):c.749-49G>A | Developmental and epileptic encephalopathy, 30 [RCV001807596]|not provided [RCV004713109] | benign | 21 | 43420506 | 43420506 | Human | 1 | name |
| 151351859 | CV1323688 | single nucleotide variant | NM_173354.5(SIK1):c.748+17C>T | Developmental and epileptic encephalopathy, 30 [RCV001807597]|not provided [RCV004713110] | benign | 21 | 43420993 | 43420993 | Human | 1 | name |
| 151351861 | CV1323689 | single nucleotide variant | NM_173354.5(SIK1):c.625-23T>C | Developmental and epileptic encephalopathy, 30 [RCV001807598]|not provided [RCV004714344]|not specified [RCV004598149] | benign | 21 | 43421156 | 43421156 | Human | 1 | name |
| 151351863 | CV1323690 | single nucleotide variant | NM_173354.5(SIK1):c.625-39A>G | Developmental and epileptic encephalopathy, 30 [RCV001807599]|not provided [RCV004714345]|not specified [RCV004598150] | benign | 21 | 43421172 | 43421172 | Human | 1 | name |
| 151351866 | CV1323691 | single nucleotide variant | NM_173354.5(SIK1):c.337+35C>G | Developmental and epileptic encephalopathy, 30 [RCV001807600]|not provided [RCV004714346] | benign | 21 | 43421939 | 43421939 | Human | 1 | name |
| 151351868 | CV1323692 | single nucleotide variant | NM_173354.5(SIK1):c.274-28G>A | Developmental and epileptic encephalopathy, 30 [RCV001807601]|not provided [RCV004714347] | benign | 21 | 43422065 | 43422065 | Human | 1 | name |
| 151351871 | CV1323693 | single nucleotide variant | NM_173354.5(SIK1):c.156+15T>C | Developmental and epileptic encephalopathy, 30 [RCV001807602]|not provided [RCV004714348] | benign | 21 | 43426008 | 43426008 | Human | 1 | name |
| 151777472 | CV1381182 | single nucleotide variant | NM_173354.5(SIK1):c.274-11T>G | Developmental and epileptic encephalopathy, 30 [RCV002045823] | likely benign|uncertain significance | 21 | 43422048 | 43422048 | Human | 1 | name |
| 152121093 | CV1521391 | single nucleotide variant | NM_173354.5(SIK1):c.156+18G>C | Developmental and epileptic encephalopathy, 30 [RCV002135719] | benign | 21 | 43426005 | 43426005 | Human | 1 | name |
| 152042891 | CV1522258 | single nucleotide variant | NM_173354.5(SIK1):c.972+15A>G | Developmental and epileptic encephalopathy, 30 [RCV002088190] | likely benign | 21 | 43420219 | 43420219 | Human | 1 | name |
| 152135784 | CV1528365 | single nucleotide variant | NM_173354.5(SIK1):c.273+15T>C | Developmental and epileptic encephalopathy, 30 [RCV002100097] | likely benign | 21 | 43425392 | 43425392 | Human | 1 | name |
| 152059839 | CV1540534 | single nucleotide variant | NM_173354.5(SIK1):c.973-16C>T | Developmental and epileptic encephalopathy, 30 [RCV002109977] | likely benign | 21 | 43420021 | 43420021 | Human | 1 | name |
| 152121979 | CV1554691 | single nucleotide variant | NM_173354.5(SIK1):c.624+13T>C | Developmental and epileptic encephalopathy, 30 [RCV002198174] | likely benign | 21 | 43421230 | 43421230 | Human | 1 | name |
| 152109580 | CV1556676 | single nucleotide variant | NM_173354.5(SIK1):c.625-12G>C | Developmental and epileptic encephalopathy, 30 [RCV002096662] | likely benign | 21 | 43421145 | 43421145 | Human | 1 | name |
| 152105787 | CV1559972 | single nucleotide variant | NM_173354.5(SIK1):c.337+17T>C | Developmental and epileptic encephalopathy, 30 [RCV002133830] | likely benign | 21 | 43421957 | 43421957 | Human | 1 | name |
| 152158492 | CV1564424 | deletion | NM_173354.5(SIK1):c.1463-5del | Developmental and epileptic encephalopathy, 30 [RCV002140517] | benign | 21 | 43418546 | 43418546 | Human | 1 | name |
| 152069732 | CV1569992 | single nucleotide variant | NM_173354.5(SIK1):c.499+14G>A | Developmental and epileptic encephalopathy, 30 [RCV002191624] | likely benign | 21 | 43421624 | 43421624 | Human | 1 | name |
| 152127972 | CV1572169 | single nucleotide variant | NM_173354.5(SIK1):c.748+18G>A | Developmental and epileptic encephalopathy, 30 [RCV002217669] | likely benign | 21 | 43420992 | 43420992 | Human | 1 | name |
| 152163189 | CV1600755 | single nucleotide variant | NM_173354.5(SIK1):c.338-15T>C | Developmental and epileptic encephalopathy, 30 [RCV002141279] | likely benign | 21 | 43421814 | 43421814 | Human | 1 | name |
| 152035675 | CV1604227 | single nucleotide variant | NM_173354.5(SIK1):c.273+16G>A | Developmental and epileptic encephalopathy, 30 [RCV002087163] | likely benign | 21 | 43425391 | 43425391 | Human | 1 | name |
| 152086305 | CV1608340 | single nucleotide variant | NM_173354.5(SIK1):c.624+15C>T | Developmental and epileptic encephalopathy, 30 [RCV002212087] | benign | 21 | 43421228 | 43421228 | Human | 1 | name |
| 152132063 | CV1621277 | single nucleotide variant | NM_173354.5(SIK1):c.273+15T>G | Developmental and epileptic encephalopathy, 30 [RCV002218204] | likely benign | 21 | 43425392 | 43425392 | Human | 1 | name |
| 152076422 | CV1632703 | single nucleotide variant | NM_173354.5(SIK1):c.1246-7A>G | Developmental and epileptic encephalopathy, 30 [RCV002169975] | likely benign | 21 | 43419244 | 43419244 | Human | 1 | name |
| 152089631 | CV1634036 | single nucleotide variant | NM_173354.5(SIK1):c.972+10G>A | Developmental and epileptic encephalopathy, 30 [RCV002194128] | likely benign | 21 | 43420224 | 43420224 | Human | 1 | name |
| 152113731 | CV1639459 | single nucleotide variant | NM_173354.5(SIK1):c.338-14T>C | Developmental and epileptic encephalopathy, 30 [RCV002197124] | likely benign | 21 | 43421813 | 43421813 | Human | 1 | name |
| 152148209 | CV1640196 | single nucleotide variant | NM_173354.5(SIK1):c.624+18G>A | Developmental and epileptic encephalopathy, 30 [RCV002157760] | likely benign | 21 | 43421225 | 43421225 | Human | 1 | name |
| 152168069 | CV1642963 | single nucleotide variant | NM_173354.5(SIK1):c.500-18T>G | Developmental and epileptic encephalopathy, 30 [RCV002204875] | likely benign | 21 | 43421385 | 43421385 | Human | 1 | name |
| 152100943 | CV1648942 | single nucleotide variant | NM_173354.5(SIK1):c.338-13T>G | Developmental and epileptic encephalopathy, 30 [RCV002213996] | likely benign | 21 | 43421812 | 43421812 | Human | 1 | name |
| 152073403 | CV1657492 | single nucleotide variant | NM_173354.5(SIK1):c.973-19C>T | Developmental and epileptic encephalopathy, 30 [RCV002210276] | likely benign | 21 | 43420024 | 43420024 | Human | 1 | name |
| 152053436 | CV1659344 | single nucleotide variant | NM_173354.5(SIK1):c.156+13G>A | Developmental and epileptic encephalopathy, 30 [RCV002189687] | likely benign | 21 | 43426010 | 43426010 | Human | 1 | name |
| 156386709 | CV1875057 | single nucleotide variant | NM_173354.5(SIK1):c.624+12G>A | Developmental and epileptic encephalopathy, 30 [RCV003050921] | likely benign | 21 | 43421231 | 43421231 | Human | 1 | name |
| 156036422 | CV1890207 | deletion | NM_173354.5(SIK1):c.748+20del | Developmental and epileptic encephalopathy, 30 [RCV003078334] | likely benign | 21 | 43420990 | 43420990 | Human | 1 | name |
| 156038339 | CV1890819 | single nucleotide variant | NM_173354.5(SIK1):c.748+17C>G | Developmental and epileptic encephalopathy, 30 [RCV003078410] | likely benign | 21 | 43420993 | 43420993 | Human | 1 | name |
| 156381111 | CV1893624 | single nucleotide variant | NM_173354.5(SIK1):c.624+19C>G | Developmental and epileptic encephalopathy, 30 [RCV003093281] | likely benign | 21 | 43421224 | 43421224 | Human | 1 | name |
| 156440566 | CV1943621 | single nucleotide variant | NM_173354.5(SIK1):c.1462+4A>G | Developmental and epileptic encephalopathy, 30 [RCV003110601] | uncertain significance | 21 | 43419017 | 43419017 | Human | 1 | name |
| 156356639 | CV1996678 | single nucleotide variant | NM_173354.5(SIK1):c.337+11C>T | Developmental and epileptic encephalopathy, 30 [RCV002675970] | likely benign | 21 | 43421963 | 43421963 | Human | 1 | name |
| 156175313 | CV2038168 | single nucleotide variant | NM_173354.5(SIK1):c.499+17G>A | Developmental and epileptic encephalopathy, 30 [RCV002741991] | likely benign | 21 | 43421621 | 43421621 | Human | 1 | name |
| 156020085 | CV2058898 | single nucleotide variant | NM_173354.5(SIK1):c.338-18T>C | Developmental and epileptic encephalopathy, 30 [RCV002820574] | likely benign | 21 | 43421817 | 43421817 | Human | 1 | name |
| 156128321 | CV2100712 | duplication | NM_173354.5(SIK1):c.1463-5dup | Developmental and epileptic encephalopathy, 30 [RCV002889843] | benign | 21 | 43418545 | 43418546 | Human | 1 | name |
| 156001475 | CV2106788 | single nucleotide variant | NM_173354.5(SIK1):c.156+20C>T | Developmental and epileptic encephalopathy, 30 [RCV002947808] | likely benign | 21 | 43426003 | 43426003 | Human | 1 | name |
| 156266133 | CV2140003 | single nucleotide variant | NM_173354.5(SIK1):c.749-11C>T | Developmental and epileptic encephalopathy, 30 [RCV003009099] | likely benign | 21 | 43420468 | 43420468 | Human | 1 | name |
| 156312322 | CV2143748 | single nucleotide variant | NM_173354.5(SIK1):c.499+16G>A | Developmental and epileptic encephalopathy, 30 [RCV003011185] | likely benign | 21 | 43421622 | 43421622 | Human | 1 | name |
| 156049488 | CV2186653 | duplication | NM_173354.5(SIK1):c.1976+6dup | Developmental and epileptic encephalopathy, 30 [RCV003036859] | likely benign | 21 | 43417536 | 43417537 | Human | 1 | name |
| 156037911 | CV2189827 | single nucleotide variant | NM_173354.5(SIK1):c.337+10A>G | Developmental and epileptic encephalopathy, 30 [RCV003036450] | likely benign | 21 | 43421964 | 43421964 | Human | 1 | name |
| 405178652 | CV2893084 | single nucleotide variant | NM_173354.5(SIK1):c.337+20A>G | Developmental and epileptic encephalopathy, 30 [RCV003588251] | likely benign | 21 | 43421954 | 43421954 | Human | 1 | name |
| 405192075 | CV2916191 | single nucleotide variant | NM_173354.5(SIK1):c.337+19C>T | Developmental and epileptic encephalopathy, 30 [RCV003589995] | likely benign | 21 | 43421955 | 43421955 | Human | 1 | name |
| 405199862 | CV2923295 | single nucleotide variant | NM_173354.5(SIK1):c.273+13C>T | Developmental and epileptic encephalopathy, 30 [RCV003590995] | likely benign | 21 | 43425394 | 43425394 | Human | 1 | name |
| 405108252 | CV2937182 | single nucleotide variant | NM_173354.5(SIK1):c.1246-9C>G | Developmental and epileptic encephalopathy, 30 [RCV003751023] | likely benign | 21 | 43419246 | 43419246 | Human | 1 | name |
| 405112374 | CV2975207 | single nucleotide variant | NM_173354.5(SIK1):c.624+20A>G | Developmental and epileptic encephalopathy, 30 [RCV003751721] | likely benign | 21 | 43421223 | 43421223 | Human | 1 | name |
| 405113115 | CV2978547 | single nucleotide variant | NM_173354.5(SIK1):c.1119+3G>A | Developmental and epileptic encephalopathy, 30 [RCV003751915] | uncertain significance | 21 | 43419856 | 43419856 | Human | 1 | name |
| 405117238 | CV3019912 | single nucleotide variant | NM_173354.5(SIK1):c.499+13C>T | Developmental and epileptic encephalopathy, 30 [RCV003752533] | likely benign | 21 | 43421625 | 43421625 | Human | 1 | name |
| 405105296 | CV3028132 | single nucleotide variant | NM_173354.5(SIK1):c.748+16T>C | Developmental and epileptic encephalopathy, 30 [RCV003750304] | likely benign | 21 | 43420994 | 43420994 | Human | 1 | name |
| 405106061 | CV3040058 | single nucleotide variant | NM_173354.5(SIK1):c.972+14C>T | Developmental and epileptic encephalopathy, 30 [RCV003750419] | likely benign | 21 | 43420220 | 43420220 | Human | 1 | name |
| 405105428 | CV3040995 | single nucleotide variant | NM_173354.5(SIK1):c.1119+6G>A | Developmental and epileptic encephalopathy, 30 [RCV003750357] | uncertain significance | 21 | 43419853 | 43419853 | Human | 1 | name |
| 405110573 | CV3073202 | single nucleotide variant | NM_173354.5(SIK1):c.157-20T>A | Developmental and epileptic encephalopathy, 30 [RCV003751427] | likely benign | 21 | 43425543 | 43425543 | Human | 1 | name |
| 405111732 | CV3081036 | single nucleotide variant | NM_173354.5(SIK1):c.973-13C>T | Developmental and epileptic encephalopathy, 30 [RCV003751609] | likely benign | 21 | 43420018 | 43420018 | Human | 1 | name |
| 405194739 | CV3128511 | duplication | NM_173354.5(SIK1):c.156+11dup | Developmental and epileptic encephalopathy, 30 [RCV003821248] | benign | 21 | 43426011 | 43426012 | Human | 1 | name |
| 405135374 | CV3133914 | single nucleotide variant | NM_173354.5(SIK1):c.973-14C>T | Developmental and epileptic encephalopathy, 30 [RCV003838693] | likely benign | 21 | 43420019 | 43420019 | Human | 1 | name |
| 405281088 | CV3223877 | single nucleotide variant | NM_173354.5(SIK1):c.625-16C>T | not specified [RCV003988255] | likely benign | 21 | 43421149 | 43421149 | Human | | name |
| 407501794 | CV3480738 | single nucleotide variant | NM_173354.5(SIK1):c.1120-5C>A | Inborn genetic diseases [RCV004669836] | uncertain significance | 21 | 43419483 | 43419483 | Human | 1 | name |
| 597846716 | CV3736254 | single nucleotide variant | NM_173354.5(SIK1):c.500-19C>T | Developmental and epileptic encephalopathy, 30 [RCV005065602] | likely benign | 21 | 43421386 | 43421386 | Human | 1 | name |
| 597942393 | CV3757786 | single nucleotide variant | NM_173354.5(SIK1):c.1976+3A>G | Developmental and epileptic encephalopathy, 30 [RCV005077784] | uncertain significance | 21 | 43417540 | 43417540 | Human | 1 | name |
| 597907065 | CV3773137 | single nucleotide variant | NM_173354.5(SIK1):c.1977-7C>G | Developmental and epileptic encephalopathy, 30 [RCV005113202] | likely benign | 21 | 43417124 | 43417124 | Human | 1 | name |
| 597937063 | CV3774622 | single nucleotide variant | NM_173354.5(SIK1):c.337+12T>A | Developmental and epileptic encephalopathy, 30 [RCV005117655] | likely benign | 21 | 43421962 | 43421962 | Human | 1 | name |
| 597967163 | CV3823806 | single nucleotide variant | NM_173354.5(SIK1):c.972+12C>T | Developmental and epileptic encephalopathy, 30 [RCV005165226] | likely benign | 21 | 43420222 | 43420222 | Human | 1 | name |
| 597974314 | CV3831570 | single nucleotide variant | NM_173354.5(SIK1):c.749-11C>A | Developmental and epileptic encephalopathy, 30 [RCV005168509] | likely benign | 21 | 43420468 | 43420468 | Human | 1 | name |
| 597944064 | CV3847291 | single nucleotide variant | NM_173354.5(SIK1):c.624+17C>T | Developmental and epileptic encephalopathy, 30 [RCV005188211] | benign | 21 | 43421226 | 43421226 | Human | 1 | name |
| 13466047 | CV470724 | single nucleotide variant | NM_173354.5(SIK1):c.1463-7C>T | Developmental and epileptic encephalopathy, 30 [RCV001083726]|not provided [RCV000713287] | benign|likely benign | 21 | 43418548 | 43418548 | Human | 1 | name |
| 13500467 | CV471691 | single nucleotide variant | NM_173354.5(SIK1):c.1463-5C>T | Developmental and epileptic encephalopathy, 30 [RCV000536953]|Inborn genetic diseases [RCV002316585]|not specified [RCV005239217] | likely benign|uncertain significance | 21 | 43418546 | 43418546 | Human | 2 | name |
| 13625294 | CV533966 | single nucleotide variant | NM_173354.5(SIK1):c.1463-6C>A | Developmental and epileptic encephalopathy, 30 [RCV000653206] | likely benign | 21 | 43418547 | 43418547 | Human | 1 | name |
| 13625298 | CV534458 | single nucleotide variant | NM_173354.5(SIK1):c.1463-5C>G | Developmental and epileptic encephalopathy, 30 [RCV000653210] | likely benign | 21 | 43418546 | 43418546 | Human | 1 | name |
| 13625284 | CV534460 | single nucleotide variant | NM_173354.5(SIK1):c.1119+7G>A | Developmental and epileptic encephalopathy, 30 [RCV000653195]|not provided [RCV003437386] | benign|likely benign | 21 | 43419852 | 43419852 | Human | 1 | name |
| 13815808 | CV573822 | single nucleotide variant | NM_173354.5(SIK1):c.1745-2A>G | Developmental and epileptic encephalopathy, 30 [RCV000691881] | uncertain significance | 21 | 43417776 | 43417776 | Human | 1 | name |
| 13828371 | CV580486 | single nucleotide variant | NM_173354.5(SIK1):c.1463-3C>T | Developmental and epileptic encephalopathy, 30 [RCV000946247]|Inborn genetic diseases [RCV002312381] | benign | 21 | 43418544 | 43418544 | Human | 2 | name |
| 14724801 | CV653231 | single nucleotide variant | NM_173354.5(SIK1):c.1463-7C>G | Developmental and epileptic encephalopathy, 30 [RCV000814932] | likely benign|uncertain significance | 21 | 43418548 | 43418548 | Human | 1 | name |
| 15143775 | CV695862 | single nucleotide variant | NM_173354.5(SIK1):c.1246-5C>T | Developmental and epileptic encephalopathy, 30 [RCV000878106]|Inborn genetic diseases [RCV002390852] | likely benign | 21 | 43419242 | 43419242 | Human | 2 | name |
| 15201896 | CV731379 | single nucleotide variant | NM_173354.5(SIK1):c.1246-4G>A | Developmental and epileptic encephalopathy, 30 [RCV001462148]|not provided [RCV004704277] | likely benign | 21 | 43419241 | 43419241 | Human | 1 | name |
| 15127235 | CV745339 | single nucleotide variant | NM_173354.5(SIK1):c.1744+7C>G | Developmental and epileptic encephalopathy, 30 [RCV000897072] | likely benign | 21 | 43418253 | 43418253 | Human | 1 | name |
| 15181621 | CV776818 | single nucleotide variant | NM_173354.5(SIK1):c.1120-8G>A | Developmental and epileptic encephalopathy, 30 [RCV000930170] | likely benign | 21 | 43419486 | 43419486 | Human | 1 | name |
| 15178098 | CV778597 | single nucleotide variant | NM_173354.5(SIK1):c.1744+9C>T | Developmental and epileptic encephalopathy, 30 [RCV000951193] | likely benign | 21 | 43418251 | 43418251 | Human | 1 | name |
| 15108201 | CV780219 | single nucleotide variant | NM_173354.5(SIK1):c.1463-6C>G | Developmental and epileptic encephalopathy, 30 [RCV001409915] | likely benign | 21 | 43418547 | 43418547 | Human | 1 | name |
| 15121358 | CV788309 | single nucleotide variant | NM_173354.5(SIK1):c.156+10G>A | Developmental and epileptic encephalopathy, 30 [RCV001416274] | likely benign | 21 | 43426013 | 43426013 | Human | 1 | name |
| 38460860 | CV960327 | single nucleotide variant | NM_173354.5(SIK1):c.1119+6G>C | Developmental and epileptic encephalopathy, 30 [RCV001229427] | uncertain significance | 21 | 43419853 | 43419853 | Human | 1 | name |
| 151351855 | CV1323685 | single nucleotide variant | NM_173354.5(SIK1):c.1246-36T>C | Developmental and epileptic encephalopathy, 30 [RCV001807594]|not provided [RCV004713107] | benign | 21 | 43419273 | 43419273 | Human | 1 | name |
| 151848213 | CV1450919 | single nucleotide variant | NM_173354.5(SIK1):c.1462+13G>A | Developmental and epileptic encephalopathy, 30 [RCV001957621] | likely benign|uncertain significance | 21 | 43419008 | 43419008 | Human | 1 | name |
| 152130068 | CV1519495 | deletion | NM_173354.5(SIK1):c.1976+15del | Developmental and epileptic encephalopathy, 30 [RCV002155408] | benign | 21 | 43417528 | 43417528 | Human | 1 | name |
| 152136018 | CV1528408 | single nucleotide variant | NM_173354.5(SIK1):c.1745-20C>T | Developmental and epileptic encephalopathy, 30 [RCV002100128] | likely benign | 21 | 43417794 | 43417794 | Human | 1 | name |
| 152048054 | CV1549597 | single nucleotide variant | NM_173354.5(SIK1):c.1463-19C>T | Developmental and epileptic encephalopathy, 30 [RCV002166504] | likely benign | 21 | 43418560 | 43418560 | Human | 1 | name |
| 152124726 | CV1553936 | single nucleotide variant | NM_173354.5(SIK1):c.1120-16C>T | Developmental and epileptic encephalopathy, 30 [RCV002098654]|not provided [RCV004704732] | likely benign | 21 | 43419494 | 43419494 | Human | 1 | name |
| 152171271 | CV1562257 | single nucleotide variant | NM_173354.5(SIK1):c.1463-18G>A | Developmental and epileptic encephalopathy, 30 [RCV002183444]|not provided [RCV004714386] | benign | 21 | 43418559 | 43418559 | Human | 1 | name |
| 152138804 | CV1565242 | single nucleotide variant | NM_173354.5(SIK1):c.1463-15G>A | Developmental and epileptic encephalopathy, 30 [RCV002083880] | likely benign | 21 | 43418556 | 43418556 | Human | 1 | name |
| 152067412 | CV1566841 | single nucleotide variant | NM_173354.5(SIK1):c.1463-15G>C | Developmental and epileptic encephalopathy, 30 [RCV002091114] | likely benign | 21 | 43418556 | 43418556 | Human | 1 | name |
| 152068951 | CV1570707 | single nucleotide variant | NM_173354.5(SIK1):c.1246-17G>C | Developmental and epileptic encephalopathy, 30 [RCV002129347] | likely benign | 21 | 43419254 | 43419254 | Human | 1 | name |
| 152138839 | CV1570983 | single nucleotide variant | NM_173354.5(SIK1):c.1245+19T>A | Developmental and epileptic encephalopathy, 30 [RCV002120075] | likely benign | 21 | 43419334 | 43419334 | Human | 1 | name |
| 152141854 | CV1583492 | single nucleotide variant | NM_173354.5(SIK1):c.1462+18C>T | Developmental and epileptic encephalopathy, 30 [RCV002120481] | likely benign | 21 | 43419003 | 43419003 | Human | 1 | name |
| 152128272 | CV1583732 | deletion | NM_173354.5(SIK1):c.1977-14del | Developmental and epileptic encephalopathy, 30 [RCV002198977] | likely benign | 21 | 43417131 | 43417131 | Human | 1 | name |
| 152128956 | CV1584222 | single nucleotide variant | NM_173354.5(SIK1):c.1462+11C>T | Developmental and epileptic encephalopathy, 30 [RCV002082602]|not provided [RCV004713130] | benign | 21 | 43419010 | 43419010 | Human | 1 | name |
| 152133075 | CV1585189 | single nucleotide variant | NM_173354.5(SIK1):c.1119+13A>C | Developmental and epileptic encephalopathy, 30 [RCV002083134] | likely benign | 21 | 43419846 | 43419846 | Human | 1 | name |
| 152075056 | CV1599390 | single nucleotide variant | NM_173354.5(SIK1):c.1462+20C>G | Developmental and epileptic encephalopathy, 30 [RCV002075617] | likely benign | 21 | 43419001 | 43419001 | Human | 1 | name |
| 152161982 | CV1608715 | single nucleotide variant | NM_173354.5(SIK1):c.1245+16G>A | Developmental and epileptic encephalopathy, 30 [RCV002103972] | likely benign | 21 | 43419337 | 43419337 | Human | 1 | name |
| 152099010 | CV1611817 | single nucleotide variant | NM_173354.5(SIK1):c.1976+15C>T | Developmental and epileptic encephalopathy, 30 [RCV002172851] | likely benign | 21 | 43417528 | 43417528 | Human | 1 | name |
| 152132929 | CV1621516 | single nucleotide variant | NM_173354.5(SIK1):c.1462+19C>T | Developmental and epileptic encephalopathy, 30 [RCV002218321] | likely benign | 21 | 43419002 | 43419002 | Human | 1 | name |
| 152094373 | CV1634532 | single nucleotide variant | NM_173354.5(SIK1):c.1463-10C>T | Developmental and epileptic encephalopathy, 30 [RCV002213163] | likely benign | 21 | 43418551 | 43418551 | Human | 1 | name |
| 152066290 | CV1636378 | single nucleotide variant | NM_173354.5(SIK1):c.1119+14G>A | Developmental and epileptic encephalopathy, 30 [RCV002110833]|not provided [RCV004704781] | likely benign | 21 | 43419845 | 43419845 | Human | 1 | name |
| 152145871 | CV1642221 | single nucleotide variant | NM_173354.5(SIK1):c.1977-14C>T | Developmental and epileptic encephalopathy, 30 [RCV002101458] | likely benign | 21 | 43417131 | 43417131 | Human | 1 | name |
| 152115400 | CV1654011 | single nucleotide variant | NM_173354.5(SIK1):c.1744+13C>T | Developmental and epileptic encephalopathy, 30 [RCV002097409] | likely benign | 21 | 43418247 | 43418247 | Human | 1 | name |
| 156237750 | CV1882232 | single nucleotide variant | NM_173354.5(SIK1):c.1120-15G>A | Developmental and epileptic encephalopathy, 30 [RCV003085628] | likely benign | 21 | 43419493 | 43419493 | Human | 1 | name |
| 156412692 | CV1886848 | single nucleotide variant | NM_173354.5(SIK1):c.1976+19C>T | Developmental and epileptic encephalopathy, 30 [RCV003072998] | likely benign | 21 | 43417524 | 43417524 | Human | 1 | name |
| 156404422 | CV1898248 | single nucleotide variant | NM_173354.5(SIK1):c.1119+19C>T | Developmental and epileptic encephalopathy, 30 [RCV002585404] | likely benign | 21 | 43419840 | 43419840 | Human | 1 | name |
| 156418782 | CV1918758 | single nucleotide variant | NM_173354.5(SIK1):c.1119+11G>A | Developmental and epileptic encephalopathy, 30 [RCV002611991] | likely benign | 21 | 43419848 | 43419848 | Human | 1 | name |
| 156442776 | CV1949755 | single nucleotide variant | NM_173354.5(SIK1):c.1976+11C>T | Developmental and epileptic encephalopathy, 30 [RCV003113128] | likely benign | 21 | 43417532 | 43417532 | Human | 1 | name |
| 156378600 | CV1953731 | single nucleotide variant | NM_173354.5(SIK1):c.1463-10C>A | Developmental and epileptic encephalopathy, 30 [RCV002583004] | likely benign | 21 | 43418551 | 43418551 | Human | 1 | name |
| 156139541 | CV1973537 | single nucleotide variant | NM_173354.5(SIK1):c.1246-15G>A | Developmental and epileptic encephalopathy, 30 [RCV002593781] | likely benign | 21 | 43419252 | 43419252 | Human | 1 | name |
| 156285493 | CV2012747 | single nucleotide variant | NM_173354.5(SIK1):c.1119+20T>A | Developmental and epileptic encephalopathy, 30 [RCV002715445] | likely benign | 21 | 43419839 | 43419839 | Human | 1 | name |
| 156309128 | CV2111149 | single nucleotide variant | NM_173354.5(SIK1):c.1462+12C>T | Developmental and epileptic encephalopathy, 30 [RCV002937062] | likely benign | 21 | 43419009 | 43419009 | Human | 1 | name |
| 155959499 | CV2133659 | single nucleotide variant | NM_173354.5(SIK1):c.1246-17G>T | Developmental and epileptic encephalopathy, 30 [RCV003015393] | likely benign | 21 | 43419254 | 43419254 | Human | 1 | name |
| 156319475 | CV2182470 | single nucleotide variant | NM_173354.5(SIK1):c.1977-16T>G | Developmental and epileptic encephalopathy, 30 [RCV003046507] | likely benign | 21 | 43417133 | 43417133 | Human | 1 | name |
| 405189404 | CV2865219 | single nucleotide variant | NM_173354.5(SIK1):c.1246-10T>G | Developmental and epileptic encephalopathy, 30 [RCV003589633] | likely benign | 21 | 43419247 | 43419247 | Human | 1 | name |
| 405196439 | CV2879687 | single nucleotide variant | NM_173354.5(SIK1):c.1462+12C>G | Developmental and epileptic encephalopathy, 30 [RCV003590603] | likely benign | 21 | 43419009 | 43419009 | Human | 1 | name |
| 405197093 | CV2879917 | single nucleotide variant | NM_173354.5(SIK1):c.1976+15C>A | Developmental and epileptic encephalopathy, 30 [RCV003590641] | likely benign | 21 | 43417528 | 43417528 | Human | 1 | name |
| 405181617 | CV2898638 | single nucleotide variant | NM_173354.5(SIK1):c.1976+16G>A | Developmental and epileptic encephalopathy, 30 [RCV003588463] | likely benign | 21 | 43417527 | 43417527 | Human | 1 | name |
| 405194399 | CV2911314 | single nucleotide variant | NM_173354.5(SIK1):c.1744+10G>C | Developmental and epileptic encephalopathy, 30 [RCV003590283] | likely benign | 21 | 43418250 | 43418250 | Human | 1 | name |
| 405193936 | CV2917232 | single nucleotide variant | NM_173354.5(SIK1):c.1245+16G>T | Developmental and epileptic encephalopathy, 30 [RCV003590151] | likely benign | 21 | 43419337 | 43419337 | Human | 1 | name |
| 405108336 | CV2937885 | single nucleotide variant | NM_173354.5(SIK1):c.1976+15C>G | Developmental and epileptic encephalopathy, 30 [RCV003751043] | likely benign | 21 | 43417528 | 43417528 | Human | 1 | name |
| 405116496 | CV3007250 | single nucleotide variant | NM_173354.5(SIK1):c.1976+13C>T | Developmental and epileptic encephalopathy, 30 [RCV003752365] | likely benign | 21 | 43417530 | 43417530 | Human | 1 | name |
| 405107170 | CV3068213 | single nucleotide variant | NM_173354.5(SIK1):c.1976+12C>G | Developmental and epileptic encephalopathy, 30 [RCV003750730] | likely benign | 21 | 43417531 | 43417531 | Human | 1 | name |
| 405111394 | CV3074546 | single nucleotide variant | NM_173354.5(SIK1):c.1245+20G>A | Developmental and epileptic encephalopathy, 30 [RCV003751538] | likely benign | 21 | 43419333 | 43419333 | Human | 1 | name |
| 405215457 | CV3160647 | single nucleotide variant | NM_173354.5(SIK1):c.1977-13T>C | Developmental and epileptic encephalopathy, 30 [RCV003862709] | likely benign | 21 | 43417130 | 43417130 | Human | 1 | name |
| 405225670 | CV3169289 | single nucleotide variant | NM_173354.5(SIK1):c.1463-11T>G | Developmental and epileptic encephalopathy, 30 [RCV003864312] | uncertain significance | 21 | 43418552 | 43418552 | Human | 1 | name |
| 407455558 | CV3415598 | single nucleotide variant | NM_173354.5(SIK1):c.1977-85T>A | not specified [RCV004598481] | benign | 21 | 43417202 | 43417202 | Human | | name |
| 407455604 | CV3415609 | single nucleotide variant | NM_173354.5(SIK1):c.1119+85T>C | not specified [RCV004598492] | benign | 21 | 43419774 | 43419774 | Human | | name |
| 597954460 | CV3754028 | single nucleotide variant | NM_173354.5(SIK1):c.1245+18G>T | Developmental and epileptic encephalopathy, 30 [RCV005080071] | likely benign | 21 | 43419335 | 43419335 | Human | 1 | name |
| 597890824 | CV3788184 | single nucleotide variant | NM_173354.5(SIK1):c.1977-15C>G | Developmental and epileptic encephalopathy, 30 [RCV005125542] | likely benign | 21 | 43417132 | 43417132 | Human | 1 | name |
| 597970687 | CV3802047 | single nucleotide variant | NM_173354.5(SIK1):c.1245+15C>T | Developmental and epileptic encephalopathy, 30 [RCV005141839] | likely benign | 21 | 43419338 | 43419338 | Human | 1 | name |
| 13625282 | CV534452 | single nucleotide variant | NM_173354.5(SIK1):c.1744+10G>A | Developmental and epileptic encephalopathy, 30 [RCV001086018]|not provided [RCV000653193] | benign | 21 | 43418250 | 43418250 | Human | 1 | name |
| 151751648 | CV1458955 | duplication | NM_173354.5(SIK1):c.157-9_157-8dup | Developmental and epileptic encephalopathy, 30 [RCV002043342] | likely benign|uncertain significance | 21 | 43425530 | 43425531 | Human | 1 | name |
| 151756014 | CV1513477 | microsatellite | NM_173354.5(SIK1):c.338-5_338-3del | Developmental and epileptic encephalopathy, 30 [RCV001927986] | likely benign|uncertain significance | 21 | 43421802 | 43421804 | Human | | name |
| 152062863 | CV1663805 | single nucleotide variant | NM_173354.5(SIK1):c.9C>T (p.Ile3=) | Developmental and epileptic encephalopathy, 30 [RCV002073888] | likely benign | 21 | 43426170 | 43426170 | Human | 1 | name |
| 127319901 | CV1149835 | single nucleotide variant | NM_173354.5(SIK1):c.27G>A (p.Ala9=) | Developmental and epileptic encephalopathy, 30 [RCV001504237] | likely benign | 21 | 43426152 | 43426152 | Human | 1 | name |
| 156074453 | CV1890034 | single nucleotide variant | NM_173354.5(SIK1):c.15G>C (p.Ser5=) | Developmental and epileptic encephalopathy, 30 [RCV003079653] | likely benign | 21 | 43426164 | 43426164 | Human | 1 | name |
| 405191502 | CV2870990 | single nucleotide variant | NM_173354.5(SIK1):c.24C>T (p.Ser8=) | Developmental and epileptic encephalopathy, 30 [RCV003589922] | likely benign | 21 | 43426155 | 43426155 | Human | 1 | name |
| 151842584 | CV1379711 | single nucleotide variant | NM_173354.5(SIK1):c.5T>G (p.Val2Gly) | Developmental and epileptic encephalopathy, 30 [RCV001936297] | uncertain significance | 21 | 43426174 | 43426174 | Human | 1 | name |
| 152155058 | CV1556732 | single nucleotide variant | NM_173354.5(SIK1):c.30C>T (p.Asp10=) | Developmental and epileptic encephalopathy, 30 [RCV002122306]|not provided [RCV003434416] | benign|likely benign | 21 | 43426149 | 43426149 | Human | 1 | name |
| 152079609 | CV1579890 | single nucleotide variant | NM_173354.5(SIK1):c.63C>A (p.Pro21=) | Developmental and epileptic encephalopathy, 30 [RCV002076192] | likely benign | 21 | 43426116 | 43426116 | Human | 1 | name |
| 152168899 | CV1613983 | single nucleotide variant | NM_173354.5(SIK1):c.99G>A (p.Leu33=) | Developmental and epileptic encephalopathy, 30 [RCV002161269] | likely benign | 21 | 43426080 | 43426080 | Human | 1 | name |
| 152103135 | CV1656732 | deletion | NM_173354.5(SIK1):c.499+13_499+55del | Developmental and epileptic encephalopathy, 30 [RCV002115608] | likely benign | 21 | 43421583 | 43421625 | Human | 1 | name |
| 152049399 | CV1657032 | deletion | NM_173354.5(SIK1):c.500-21_500-18del | Developmental and epileptic encephalopathy, 30 [RCV002189213] | benign | 21 | 43421385 | 43421388 | Human | 1 | name |
| 155722752 | CV1814539 | single nucleotide variant | NM_173354.5(SIK1):c.87C>T (p.Ile29=) | Developmental and epileptic encephalopathy, 30 [RCV003103532]|Inborn genetic diseases [RCV002449788]|not provided [RCV003439010] | likely benign | 21 | 43426092 | 43426092 | Human | 2 | name |
| 156409839 | CV1961975 | single nucleotide variant | NM_173354.5(SIK1):c.90G>A (p.Glu30=) | Developmental and epileptic encephalopathy, 30 [RCV002586953] | likely benign | 21 | 43426089 | 43426089 | Human | 1 | name |
| 156359348 | CV2006913 | single nucleotide variant | NM_173354.5(SIK1):c.2T>C (p.Met1Thr) | Developmental and epileptic encephalopathy, 30 [RCV002676142] | uncertain significance | 21 | 43426177 | 43426177 | Human | 1 | name |
| 156273167 | CV2018526 | deletion | NM_173354.5(SIK1):c.972+13_972+27del | Developmental and epileptic encephalopathy, 30 [RCV002715050] | likely benign | 21 | 43420207 | 43420221 | Human | 1 | name |
| 405197994 | CV2880258 | deletion | NM_173354.5(SIK1):c.749-22_749-14del | Developmental and epileptic encephalopathy, 30 [RCV003590714] | uncertain significance | 21 | 43420471 | 43420479 | Human | 1 | name |
| 405111853 | CV2963541 | single nucleotide variant | NM_173354.5(SIK1):c.33C>A (p.Pro11=) | Developmental and epileptic encephalopathy, 30 [RCV003751648] | likely benign | 21 | 43426146 | 43426146 | Human | 1 | name |
| 405106122 | CV3037309 | single nucleotide variant | NM_173354.5(SIK1):c.57G>A (p.Gln19=) | Developmental and epileptic encephalopathy, 30 [RCV003750425] | likely benign | 21 | 43426122 | 43426122 | Human | 1 | name |
| 404986903 | CV3179700 | deletion | NM_173354.5(SIK1):c.338-25_338-20del | Developmental and epileptic encephalopathy, 30 [RCV003881177] | likely benign | 21 | 43421819 | 43421824 | Human | 1 | name |
| 597943423 | CV3765804 | single nucleotide variant | NM_173354.5(SIK1):c.51C>A (p.Gly17=) | Developmental and epileptic encephalopathy, 30 [RCV005119182] | likely benign | 21 | 43426128 | 43426128 | Human | 1 | name |
| 13829248 | CV580648 | single nucleotide variant | NM_173354.5(SIK1):c.4G>A (p.Val2Ile) | Developmental and epileptic encephalopathy, 30 [RCV000969586]|Inborn genetic diseases [RCV002313535]|not provided [RCV002275130] | benign|likely benign | 21 | 43426175 | 43426175 | Human | 2 | name |
| 15167934 | CV731380 | duplication | NM_173354.5(SIK1):c.1119+5_1119+6dup | Developmental and epileptic encephalopathy, 30 [RCV001505847] | likely benign | 21 | 43419849 | 43419850 | Human | 1 | name |
| 15201594 | CV773371 | single nucleotide variant | NM_173354.5(SIK1):c.36G>C (p.Ala12=) | Developmental and epileptic encephalopathy, 30 [RCV001506712] | likely benign | 21 | 43426143 | 43426143 | Human | 1 | name |
| 127267788 | CV1085744 | single nucleotide variant | NM_173354.5(SIK1):c.114C>T (p.Phe38=) | Developmental and epileptic encephalopathy, 30 [RCV001404214]|not provided [RCV003438770] | likely benign | 21 | 43426065 | 43426065 | Human | 1 | name |
| 127243625 | CV1107466 | single nucleotide variant | NM_173354.5(SIK1):c.123G>A (p.Val41=) | Developmental and epileptic encephalopathy, 30 [RCV001434849] | likely benign | 21 | 43426056 | 43426056 | Human | 1 | name |
| 152082317 | CV1551895 | single nucleotide variant | NM_173354.5(SIK1):c.204G>A (p.Leu68=) | Developmental and epileptic encephalopathy, 30 [RCV002093015] | likely benign | 21 | 43425476 | 43425476 | Human | 1 | name |
| 152164274 | CV1619772 | single nucleotide variant | NM_173354.5(SIK1):c.285A>G (p.Thr95=) | Developmental and epileptic encephalopathy, 30 [RCV002181505] | likely benign | 21 | 43422026 | 43422026 | Human | 1 | name |
| 155691708 | CV1772602 | single nucleotide variant | NM_173354.5(SIK1):c.14C>T (p.Ser5Leu) | Developmental and epileptic encephalopathy, 30 [RCV002294941] | uncertain significance | 21 | 43426165 | 43426165 | Human | 1 | name |
| 156418530 | CV1922285 | single nucleotide variant | NM_173354.5(SIK1):c.198C>T (p.Ser66=) | Developmental and epileptic encephalopathy, 30 [RCV002611727] | likely benign | 21 | 43425482 | 43425482 | Human | 1 | name |
| 405188657 | CV2864883 | single nucleotide variant | NM_173354.5(SIK1):c.282A>G (p.Glu94=) | Developmental and epileptic encephalopathy, 30 [RCV003589577] | likely benign | 21 | 43422029 | 43422029 | Human | 1 | name |
| 405117523 | CV3026186 | single nucleotide variant | NM_173354.5(SIK1):c.237G>A (p.Lys79=) | Developmental and epileptic encephalopathy, 30 [RCV003752508] | likely benign | 21 | 43425443 | 43425443 | Human | 1 | name |
| 405106896 | CV3063823 | single nucleotide variant | NM_173354.5(SIK1):c.13T>A (p.Ser5Thr) | Developmental and epileptic encephalopathy, 30 [RCV003750673] | uncertain significance | 21 | 43426166 | 43426166 | Human | 1 | name |
| 405254956 | CV3175545 | single nucleotide variant | NM_173354.5(SIK1):c.252A>G (p.Pro84=) | Developmental and epileptic encephalopathy, 30 [RCV003871812] | likely benign | 21 | 43425428 | 43425428 | Human | 1 | name |
| 405281414 | CV3224104 | single nucleotide variant | NM_173354.5(SIK1):c.25G>A (p.Ala9Thr) | not specified [RCV003988486] | uncertain significance | 21 | 43426154 | 43426154 | Human | | name |
| 597901679 | CV3741382 | single nucleotide variant | NM_173354.5(SIK1):c.10A>C (p.Met4Leu) | Developmental and epileptic encephalopathy, 30 [RCV005072353] | uncertain significance | 21 | 43426169 | 43426169 | Human | 1 | name |
| 597945153 | CV3755310 | single nucleotide variant | NM_173354.5(SIK1):c.216T>C (p.Tyr72=) | Developmental and epileptic encephalopathy, 30 [RCV005078319] | likely benign | 21 | 43425464 | 43425464 | Human | 1 | name |
| 597927164 | CV3783225 | single nucleotide variant | NM_173354.5(SIK1):c.127C>T (p.Leu43=) | Developmental and epileptic encephalopathy, 30 [RCV005115911] | likely benign | 21 | 43426052 | 43426052 | Human | 1 | name |
| 597948501 | CV3800781 | single nucleotide variant | NM_173354.5(SIK1):c.276T>A (p.Val92=) | Developmental and epileptic encephalopathy, 30 [RCV005135181] | likely benign | 21 | 43422035 | 43422035 | Human | 1 | name |
| 597964380 | CV3830461 | single nucleotide variant | NM_173354.5(SIK1):c.258C>T (p.Ile86=) | Developmental and epileptic encephalopathy, 30 [RCV005164601] | likely benign | 21 | 43425422 | 43425422 | Human | 1 | name |
| 13625289 | CV533941 | single nucleotide variant | NM_173354.5(SIK1):c.117G>C (p.Ala39=) | Developmental and epileptic encephalopathy, 30 [RCV001400626] | likely benign | 21 | 43426062 | 43426062 | Human | 1 | name |
| 13830778 | CV580746 | single nucleotide variant | NM_173354.5(SIK1):c.11T>C (p.Met4Thr) | Inborn genetic diseases [RCV002318856] | uncertain significance | 21 | 43426168 | 43426168 | Human | 1 | name |
| 15126758 | CV773369 | single nucleotide variant | NM_173354.5(SIK1):c.243G>C (p.Leu81=) | Developmental and epileptic encephalopathy, 30 [RCV000941437] | benign | 21 | 43425437 | 43425437 | Human | 1 | name |
| 15179141 | CV773370 | single nucleotide variant | NM_173354.5(SIK1):c.207G>A (p.Glu69=) | Developmental and epileptic encephalopathy, 30 [RCV000929568]|not provided [RCV004704332] | likely benign | 21 | 43425473 | 43425473 | Human | 1 | name |
| 126726217 | CV1018755 | single nucleotide variant | NM_173354.5(SIK1):c.468G>A (p.Leu156=) | Developmental and epileptic encephalopathy, 30 [RCV001331846] | conflicting interpretations of pathogenicity|uncertain significance | 21 | 43421669 | 43421669 | Human | 1 | name |
| 126775089 | CV1034939 | deletion | NM_173354.5(SIK1):c.206del (p.Glu69fs) | Developmental and epileptic encephalopathy, 30 [RCV001347978] | uncertain significance | 21 | 43425474 | 43425474 | Human | 1 | name |
| 127271362 | CV1085733 | single nucleotide variant | NM_173354.5(SIK1):c.924G>T (p.Ala308=) | Developmental and epileptic encephalopathy, 30 [RCV001405322] | likely benign | 21 | 43420282 | 43420282 | Human | 1 | name |
| 127260628 | CV1085735 | single nucleotide variant | NM_173354.5(SIK1):c.702G>A (p.Gln234=) | Developmental and epileptic encephalopathy, 30 [RCV001420087] | likely benign | 21 | 43421056 | 43421056 | Human | 1 | name |
| 127250386 | CV1085736 | single nucleotide variant | NM_173354.5(SIK1):c.690G>A (p.Pro230=) | Developmental and epileptic encephalopathy, 30 [RCV001417565]|Inborn genetic diseases [RCV002377655]|not provided [RCV005428235] | likely benign | 21 | 43421068 | 43421068 | Human | 2 | name |
| 127245969 | CV1085737 | single nucleotide variant | NM_173354.5(SIK1):c.642G>A (p.Leu214=) | Developmental and epileptic encephalopathy, 30 [RCV001393983] | likely benign | 21 | 43421116 | 43421116 | Human | 1 | name |
| 127256898 | CV1085738 | single nucleotide variant | NM_173354.5(SIK1):c.513G>C (p.Gly171=) | Developmental and epileptic encephalopathy, 30 [RCV001401333] | likely benign | 21 | 43421354 | 43421354 | Human | 1 | name |
| 127257475 | CV1085740 | single nucleotide variant | NM_173354.5(SIK1):c.423C>T (p.His141=) | Developmental and epileptic encephalopathy, 30 [RCV001401470] | likely benign | 21 | 43421714 | 43421714 | Human | 1 | name |
| 127260186 | CV1085741 | single nucleotide variant | NM_173354.5(SIK1):c.348T>G (p.Thr116=) | Developmental and epileptic encephalopathy, 30 [RCV001419995] | likely benign | 21 | 43421789 | 43421789 | Human | 1 | name |
| 127230569 | CV1085742 | single nucleotide variant | NM_173354.5(SIK1):c.303C>T (p.Ile101=) | Developmental and epileptic encephalopathy, 30 [RCV001394745] | likely benign | 21 | 43422008 | 43422008 | Human | 1 | name |
| 127236366 | CV1085743 | single nucleotide variant | NM_173354.5(SIK1):c.300C>T (p.Tyr100=) | Developmental and epileptic encephalopathy, 30 [RCV001396883] | likely benign | 21 | 43422011 | 43422011 | Human | 1 | name |
| 127256917 | CV1107455 | single nucleotide variant | NM_173354.5(SIK1):c.976C>T (p.Leu326=) | Developmental and epileptic encephalopathy, 30 [RCV001426940] | likely benign | 21 | 43420002 | 43420002 | Human | 1 | name |
| 127284157 | CV1107456 | single nucleotide variant | NM_173354.5(SIK1):c.804C>A (p.Thr268=) | Developmental and epileptic encephalopathy, 30 [RCV001449029] | likely benign | 21 | 43420402 | 43420402 | Human | 1 | name |
| 127241821 | CV1107458 | single nucleotide variant | NM_173354.5(SIK1):c.672C>T (p.Phe224=) | Developmental and epileptic encephalopathy, 30 [RCV001434492] | likely benign | 21 | 43421086 | 43421086 | Human | 1 | name |
| 127233192 | CV1107459 | single nucleotide variant | NM_173354.5(SIK1):c.669C>T (p.Pro223=) | Developmental and epileptic encephalopathy, 30 [RCV001421674] | likely benign | 21 | 43421089 | 43421089 | Human | 1 | name |
| 127256259 | CV1107460 | single nucleotide variant | NM_173354.5(SIK1):c.627C>T (p.Ser209=) | Developmental and epileptic encephalopathy, 30 [RCV001437649] | likely benign | 21 | 43421131 | 43421131 | Human | 1 | name |
| 127263702 | CV1107461 | single nucleotide variant | NM_173354.5(SIK1):c.606C>A (p.Gly202=) | Developmental and epileptic encephalopathy, 30 [RCV001439361] | likely benign | 21 | 43421261 | 43421261 | Human | 1 | name |
| 127276861 | CV1107462 | single nucleotide variant | NM_173354.5(SIK1):c.573C>T (p.Ala191=) | Developmental and epileptic encephalopathy, 30 [RCV001444067] | likely benign | 21 | 43421294 | 43421294 | Human | 1 | name |
| 127268801 | CV1107464 | single nucleotide variant | NM_173354.5(SIK1):c.381G>A (p.Arg127=) | Developmental and epileptic encephalopathy, 30 [RCV001430092] | likely benign | 21 | 43421756 | 43421756 | Human | 1 | name |
| 127291902 | CV1128857 | single nucleotide variant | NM_173354.5(SIK1):c.912C>T (p.Tyr304=) | Developmental and epileptic encephalopathy, 30 [RCV001476195]|not specified [RCV005237844] | likely benign | 21 | 43420294 | 43420294 | Human | 1 | name |
| 127327808 | CV1128858 | single nucleotide variant | NM_173354.5(SIK1):c.807C>T (p.Ile269=) | Developmental and epileptic encephalopathy, 30 [RCV001469263] | likely benign | 21 | 43420399 | 43420399 | Human | 1 | name |
| 127300041 | CV1128859 | single nucleotide variant | NM_173354.5(SIK1):c.705G>A (p.Arg235=) | Developmental and epileptic encephalopathy, 30 [RCV001453751] | likely benign | 21 | 43421053 | 43421053 | Human | 1 | name |
| 127304404 | CV1128861 | single nucleotide variant | NM_173354.5(SIK1):c.564G>T (p.Pro188=) | Developmental and epileptic encephalopathy, 30 [RCV001462217] | likely benign | 21 | 43421303 | 43421303 | Human | 1 | name |
| 127314579 | CV1128862 | single nucleotide variant | NM_173354.5(SIK1):c.378G>A (p.Ala126=) | Developmental and epileptic encephalopathy, 30 [RCV001465017] | likely benign | 21 | 43421759 | 43421759 | Human | 1 | name |
| 127304997 | CV1149827 | single nucleotide variant | NM_173354.5(SIK1):c.861C>T (p.Pro287=) | Developmental and epileptic encephalopathy, 30 [RCV001479682] | likely benign | 21 | 43420345 | 43420345 | Human | 1 | name |
| 127293496 | CV1149828 | single nucleotide variant | NM_173354.5(SIK1):c.855G>T (p.Pro285=) | Developmental and epileptic encephalopathy, 30 [RCV001496798] | likely benign | 21 | 43420351 | 43420351 | Human | 1 | name |
| 127321199 | CV1149829 | single nucleotide variant | NM_173354.5(SIK1):c.840T>C (p.Ala280=) | Developmental and epileptic encephalopathy, 30 [RCV001504688] | likely benign | 21 | 43420366 | 43420366 | Human | 1 | name |
| 127330296 | CV1149830 | single nucleotide variant | NM_173354.5(SIK1):c.789C>T (p.Pro263=) | Developmental and epileptic encephalopathy, 30 [RCV001488023] | likely benign | 21 | 43420417 | 43420417 | Human | 1 | name |
| 127289881 | CV1149831 | single nucleotide variant | NM_173354.5(SIK1):c.456C>T (p.Thr152=) | Developmental and epileptic encephalopathy, 30 [RCV001495798]|Inborn genetic diseases [RCV002334535] | likely benign | 21 | 43421681 | 43421681 | Human | 2 | name |
| 127320437 | CV1149832 | single nucleotide variant | NM_173354.5(SIK1):c.402G>C (p.Leu134=) | Developmental and epileptic encephalopathy, 30 [RCV001484195] | likely benign | 21 | 43421735 | 43421735 | Human | 1 | name |
| 127333395 | CV1149833 | single nucleotide variant | NM_173354.5(SIK1):c.354C>T (p.Asn118=) | Developmental and epileptic encephalopathy, 30 [RCV001490161] | likely benign | 21 | 43421783 | 43421783 | Human | 1 | name |
| 127293235 | CV1149834 | duplication | NM_173354.5(SIK1):c.211dup (p.Ile71fs) | Developmental and epileptic encephalopathy, 30 [RCV001496710] | likely benign | 21 | 43425468 | 43425469 | Human | 1 | name |
| 150529191 | CV1288744 | single nucleotide variant | NM_173354.5(SIK1):c.405G>A (p.Ser135=) | Developmental and epileptic encephalopathy, 30 [RCV003771879]|not provided [RCV001727212] | likely benign | 21 | 43421732 | 43421732 | Human | 1 | name |
| 151851333 | CV1391810 | single nucleotide variant | NM_173354.5(SIK1):c.32C>G (p.Pro11Arg) | Developmental and epileptic encephalopathy, 30 [RCV002033216] | uncertain significance | 21 | 43426147 | 43426147 | Human | 1 | name |
| 151887951 | CV1449476 | single nucleotide variant | NM_173354.5(SIK1):c.74G>T (p.Gly25Val) | Developmental and epileptic encephalopathy, 30 [RCV002038295] | uncertain significance | 21 | 43426105 | 43426105 | Human | 1 | name |
| 151754482 | CV1453850 | single nucleotide variant | NM_173354.5(SIK1):c.31C>T (p.Pro11Ser) | Developmental and epileptic encephalopathy, 30 [RCV001913313] | uncertain significance | 21 | 43426148 | 43426148 | Human | 1 | name |
| 151848760 | CV1511782 | single nucleotide variant | NM_173354.5(SIK1):c.73G>A (p.Gly25Ser) | Developmental and epileptic encephalopathy, 30 [RCV001978646] | uncertain significance | 21 | 43426106 | 43426106 | Human | 1 | name |
| 152037469 | CV1524903 | single nucleotide variant | NM_173354.5(SIK1):c.943C>T (p.Leu315=) | Developmental and epileptic encephalopathy, 30 [RCV002165187] | likely benign | 21 | 43420263 | 43420263 | Human | 1 | name |
| 152114868 | CV1537423 | single nucleotide variant | NM_173354.5(SIK1):c.666C>T (p.Leu222=) | Developmental and epileptic encephalopathy, 30 [RCV002134967] | likely benign | 21 | 43421092 | 43421092 | Human | 1 | name |
| 152171317 | CV1544090 | single nucleotide variant | NM_173354.5(SIK1):c.435C>T (p.Ile145=) | Developmental and epileptic encephalopathy, 30 [RCV002162067] | likely benign | 21 | 43421702 | 43421702 | Human | 1 | name |
| 152120950 | CV1576284 | single nucleotide variant | NM_173354.5(SIK1):c.798C>T (p.Arg266=) | Developmental and epileptic encephalopathy, 30 [RCV002198044] | likely benign | 21 | 43420408 | 43420408 | Human | 1 | name |
| 152156385 | CV1589562 | single nucleotide variant | NM_173354.5(SIK1):c.900C>T (p.Asn300=) | Developmental and epileptic encephalopathy, 30 [RCV002122492] | likely benign | 21 | 43420306 | 43420306 | Human | 1 | name |
| 152047418 | CV1591386 | single nucleotide variant | NM_173354.5(SIK1):c.850T>C (p.Leu284=) | Developmental and epileptic encephalopathy, 30 [RCV002188988] | likely benign | 21 | 43420356 | 43420356 | Human | 1 | name |
| 152041502 | CV1617895 | single nucleotide variant | NM_173354.5(SIK1):c.396A>G (p.Gln132=) | Developmental and epileptic encephalopathy, 30 [RCV002206404] | likely benign | 21 | 43421741 | 43421741 | Human | 1 | name |
| 152157033 | CV1629791 | single nucleotide variant | NM_173354.5(SIK1):c.870C>T (p.Pro290=) | Developmental and epileptic encephalopathy, 30 [RCV002202774] | likely benign | 21 | 43420336 | 43420336 | Human | 1 | name |
| 152172856 | CV1641757 | duplication | NM_173354.5(SIK1):c.1463-27_1463-19dup | Developmental and epileptic encephalopathy, 30 [RCV002183982] | likely benign | 21 | 43418559 | 43418560 | Human | 1 | name |
| 152168151 | CV1645064 | single nucleotide variant | NM_173354.5(SIK1):c.552T>C (p.Cys184=) | Developmental and epileptic encephalopathy, 30 [RCV002142343] | likely benign | 21 | 43421315 | 43421315 | Human | 1 | name |
| 152129210 | CV1650537 | single nucleotide variant | NM_173354.5(SIK1):c.849C>T (p.Cys283=) | Developmental and epileptic encephalopathy, 30 [RCV002118853]|Inborn genetic diseases [RCV002443229] | likely benign | 21 | 43420357 | 43420357 | Human | 2 | name |
| 152119855 | CV1654826 | single nucleotide variant | NM_173354.5(SIK1):c.466C>T (p.Leu156=) | Developmental and epileptic encephalopathy, 30 [RCV002216629] | likely benign | 21 | 43421671 | 43421671 | Human | 1 | name |
| 152080565 | CV1663663 | single nucleotide variant | NM_173354.5(SIK1):c.600T>C (p.Tyr200=) | Developmental and epileptic encephalopathy, 30 [RCV002149255] | likely benign | 21 | 43421267 | 43421267 | Human | 1 | name |
| 155673588 | CV1801377 | single nucleotide variant | NM_173354.5(SIK1):c.633C>T (p.Gly211=) | Developmental and epileptic encephalopathy, 30 [RCV003103292]|Inborn genetic diseases [RCV002368925] | likely benign | 21 | 43421125 | 43421125 | Human | 2 | name |
| 156388987 | CV1955140 | single nucleotide variant | NM_173354.5(SIK1):c.801C>T (p.Ile267=) | Developmental and epileptic encephalopathy, 30 [RCV002583704] | likely benign | 21 | 43420405 | 43420405 | Human | 1 | name |
| 156004729 | CV2014958 | single nucleotide variant | NM_173354.5(SIK1):c.525G>A (p.Lys175=) | Developmental and epileptic encephalopathy, 30 [RCV002690217] | likely benign | 21 | 43421342 | 43421342 | Human | 1 | name |
| 156254765 | CV2025893 | single nucleotide variant | NM_173354.5(SIK1):c.47A>G (p.Gln16Arg) | Developmental and epileptic encephalopathy, 30 [RCV002746111] | uncertain significance | 21 | 43426132 | 43426132 | Human | 1 | name |
| 156135122 | CV2044300 | single nucleotide variant | NM_173354.5(SIK1):c.654C>T (p.Val218=) | Developmental and epileptic encephalopathy, 30 [RCV002786316] | likely benign | 21 | 43421104 | 43421104 | Human | 1 | name |
| 156014411 | CV2051643 | single nucleotide variant | NM_173354.5(SIK1):c.891C>T (p.Tyr297=) | Developmental and epileptic encephalopathy, 30 [RCV002820297] | likely benign | 21 | 43420315 | 43420315 | Human | 1 | name |
| 155986357 | CV2070410 | single nucleotide variant | NM_173354.5(SIK1):c.894C>G (p.Thr298=) | Developmental and epileptic encephalopathy, 30 [RCV002842757] | likely benign | 21 | 43420312 | 43420312 | Human | 1 | name |
| 156050600 | CV2093492 | single nucleotide variant | NM_173354.5(SIK1):c.720C>T (p.Arg240=) | Developmental and epileptic encephalopathy, 30 [RCV002867772] | likely benign | 21 | 43421038 | 43421038 | Human | 1 | name |
| 156009226 | CV2099942 | single nucleotide variant | NM_173354.5(SIK1):c.993T>C (p.Tyr331=) | Developmental and epileptic encephalopathy, 30 [RCV002909013]|not specified [RCV005239534] | likely benign | 21 | 43419985 | 43419985 | Human | 1 | name |
| 155977825 | CV2100185 | single nucleotide variant | NM_173354.5(SIK1):c.948C>A (p.Gly316=) | Developmental and epileptic encephalopathy, 30 [RCV002881786] | likely benign | 21 | 43420258 | 43420258 | Human | 1 | name |
| 156377589 | CV2120767 | single nucleotide variant | NM_173354.5(SIK1):c.43G>T (p.Gly15Cys) | Developmental and epileptic encephalopathy, 30 [RCV002942868] | uncertain significance | 21 | 43426136 | 43426136 | Human | 1 | name |
| 156183701 | CV2151959 | single nucleotide variant | NM_173354.5(SIK1):c.38G>A (p.Gly13Asp) | Developmental and epileptic encephalopathy, 30 [RCV003005788] | uncertain significance | 21 | 43426141 | 43426141 | Human | 1 | name |
| 155994246 | CV2171455 | single nucleotide variant | NM_173354.5(SIK1):c.693G>C (p.Thr231=) | Developmental and epileptic encephalopathy, 30 [RCV003034471] | likely benign | 21 | 43421065 | 43421065 | Human | 1 | name |
| 405188558 | CV2854779 | single nucleotide variant | NM_173354.5(SIK1):c.28G>T (p.Asp10Tyr) | Developmental and epileptic encephalopathy, 30 [RCV003589566] | uncertain significance | 21 | 43426151 | 43426151 | Human | 1 | name |
| 405189829 | CV2859432 | single nucleotide variant | NM_173354.5(SIK1):c.501T>C (p.Asp167=) | Developmental and epileptic encephalopathy, 30 [RCV003589715] | likely benign | 21 | 43421366 | 43421366 | Human | 1 | name |
| 405178907 | CV2886761 | single nucleotide variant | NM_173354.5(SIK1):c.570C>T (p.Ala190=) | Developmental and epileptic encephalopathy, 30 [RCV003588292] | likely benign | 21 | 43421297 | 43421297 | Human | 1 | name |
| 405184213 | CV2895595 | single nucleotide variant | NM_173354.5(SIK1):c.402G>A (p.Leu134=) | Developmental and epileptic encephalopathy, 30 [RCV003589014] | likely benign | 21 | 43421735 | 43421735 | Human | 1 | name |
| 405194705 | CV2931164 | single nucleotide variant | NM_173354.5(SIK1):c.765C>A (p.Ile255=) | Developmental and epileptic encephalopathy, 30 [RCV003590310] | likely benign | 21 | 43420441 | 43420441 | Human | 1 | name |
| 405109284 | CV2952356 | single nucleotide variant | NM_173354.5(SIK1):c.49G>T (p.Gly17Cys) | Developmental and epileptic encephalopathy, 30 [RCV003751243] | uncertain significance | 21 | 43426130 | 43426130 | Human | 1 | name |
| 405114765 | CV2995080 | single nucleotide variant | NM_173354.5(SIK1):c.70G>C (p.Val24Leu) | Developmental and epileptic encephalopathy, 30 [RCV003752054] | uncertain significance | 21 | 43426109 | 43426109 | Human | 1 | name |
| 405115445 | CV3004844 | single nucleotide variant | NM_173354.5(SIK1):c.657C>T (p.Cys219=) | Developmental and epileptic encephalopathy, 30 [RCV003752231] | likely benign | 21 | 43421101 | 43421101 | Human | 1 | name |
| 405118183 | CV3023842 | single nucleotide variant | NM_173354.5(SIK1):c.357G>A (p.Gly119=) | Developmental and epileptic encephalopathy, 30 [RCV003752572] | likely benign | 21 | 43421780 | 43421780 | Human | 1 | name |
| 405106106 | CV3044163 | single nucleotide variant | NM_173354.5(SIK1):c.42G>C (p.Gln14His) | Developmental and epileptic encephalopathy, 30 [RCV003750504] | uncertain significance | 21 | 43426137 | 43426137 | Human | 1 | name |
| 405111430 | CV3074734 | single nucleotide variant | NM_173354.5(SIK1):c.648C>T (p.Val216=) | Developmental and epileptic encephalopathy, 30 [RCV003751546] | likely benign | 21 | 43421110 | 43421110 | Human | 1 | name |
| 405110588 | CV3078195 | single nucleotide variant | NM_173354.5(SIK1):c.645C>T (p.Tyr215=) | Developmental and epileptic encephalopathy, 30 [RCV003751368] | likely benign | 21 | 43421113 | 43421113 | Human | 1 | name |
| 402517604 | CV3135861 | single nucleotide variant | NM_173354.5(SIK1):c.534G>A (p.Glu178=) | Developmental and epileptic encephalopathy, 30 [RCV003824487] | likely benign | 21 | 43421333 | 43421333 | Human | 1 | name |
| 597837241 | CV3761468 | single nucleotide variant | NM_173354.5(SIK1):c.576G>A (p.Pro192=) | Developmental and epileptic encephalopathy, 30 [RCV005085839] | likely benign | 21 | 43421291 | 43421291 | Human | 1 | name |
| 597895131 | CV3763552 | single nucleotide variant | NM_173354.5(SIK1):c.921G>A (p.Gln307=) | Developmental and epileptic encephalopathy, 30 [RCV005111133] | likely benign | 21 | 43420285 | 43420285 | Human | 1 | name |
| 597876972 | CV3813300 | single nucleotide variant | NM_173354.5(SIK1):c.945G>A (p.Leu315=) | Developmental and epileptic encephalopathy, 30 [RCV005149236] | likely benign | 21 | 43420261 | 43420261 | Human | 1 | name |
| 597915430 | CV3833884 | single nucleotide variant | NM_173354.5(SIK1):c.873C>G (p.Ala291=) | Developmental and epileptic encephalopathy, 30 [RCV005183243] | likely benign | 21 | 43420333 | 43420333 | Human | 1 | name |
| 616933639 | CV4011596 | single nucleotide variant | NM_173354.5(SIK1):c.804C>T (p.Thr268=) | not specified [RCV005408144] | likely benign | 21 | 43420402 | 43420402 | Human | | name |
| 13497901 | CV469670 | single nucleotide variant | NM_173354.5(SIK1):c.951G>T (p.Val317=) | Developmental and epileptic encephalopathy, 30 [RCV001086260]|Inborn genetic diseases [RCV002315036]|not provided [RCV000713297] | benign|likely benign | 21 | 43420255 | 43420255 | Human | 2 | name |
| 13497703 | CV469674 | single nucleotide variant | NM_173354.5(SIK1):c.906C>T (p.Gly302=) | Developmental and epileptic encephalopathy, 30 [RCV001083722]|Inborn genetic diseases [RCV002311891]|not provided [RCV000713294]|not specified [RCV005000213] | benign | 21 | 43420300 | 43420300 | Human | 2 | name |
| 13497544 | CV469678 | single nucleotide variant | NM_173354.5(SIK1):c.693G>A (p.Thr231=) | Developmental and epileptic encephalopathy, 30 [RCV001084216]|Inborn genetic diseases [RCV002311889]|not provided [RCV000713293] | benign | 21 | 43421065 | 43421065 | Human | 2 | name |
| 13465890 | CV469679 | single nucleotide variant | NM_173354.5(SIK1):c.306C>T (p.Val102=) | Developmental and epileptic encephalopathy, 30 [RCV000548803]|Inborn genetic diseases [RCV002448791] | likely benign | 21 | 43422005 | 43422005 | Human | 2 | name |
| 13467642 | CV471702 | single nucleotide variant | NM_173354.5(SIK1):c.930T>C (p.Gly310=) | Developmental and epileptic encephalopathy, 30 [RCV001082117]|Inborn genetic diseases [RCV002311892]|not provided [RCV000713295]|not specified [RCV005000214] | benign | 21 | 43420276 | 43420276 | Human | 2 | name |
| 13466083 | CV471703 | single nucleotide variant | NM_173354.5(SIK1):c.879C>T (p.Ser293=) | Developmental and epileptic encephalopathy, 30 [RCV000549679] | likely benign | 21 | 43420327 | 43420327 | Human | 1 | name |
| 13625283 | CV533924 | single nucleotide variant | NM_173354.5(SIK1):c.924G>A (p.Ala308=) | Developmental and epileptic encephalopathy, 30 [RCV000653194]|Inborn genetic diseases [RCV002317897] | benign|likely benign | 21 | 43420282 | 43420282 | Human | 2 | name |
| 13625296 | CV533977 | single nucleotide variant | NM_173354.5(SIK1):c.966G>A (p.Thr322=) | Developmental and epileptic encephalopathy, 30 [RCV000653208]|Inborn genetic diseases [RCV002315980]|not provided [RCV003437387] | benign|likely benign | 21 | 43420240 | 43420240 | Human | 2 | name |
| 13706271 | CV537396 | single nucleotide variant | NM_173354.5(SIK1):c.408C>T (p.Ala136=) | Developmental and epileptic encephalopathy, 30 [RCV001493074]|not provided [RCV000658925] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 43421729 | 43421729 | Human | 1 | name |
| 13801458 | CV577897 | single nucleotide variant | NM_173354.5(SIK1):c.948C>T (p.Gly316=) | Developmental and epileptic encephalopathy, 30 [RCV001522162]|Inborn genetic diseases [RCV002312253]|not provided [RCV000713296] | benign | 21 | 43420258 | 43420258 | Human | 2 | name |
| 13801455 | CV577899 | single nucleotide variant | NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) | Developmental and epileptic encephalopathy, 30 [RCV001522240]|Inborn genetic diseases [RCV002312252]|not provided [RCV000713292]|not specified [RCV004597870] | benign | 21 | 43426136 | 43426136 | Human | 2 | name |
| 13830779 | CV580603 | single nucleotide variant | NM_173354.5(SIK1):c.345G>A (p.Leu115=) | Developmental and epileptic encephalopathy, 30 [RCV002067070]|Inborn genetic diseases [RCV002318857] | likely benign | 21 | 43421792 | 43421792 | Human | 2 | name |
| 13828938 | CV580744 | single nucleotide variant | NM_173354.5(SIK1):c.546G>T (p.Thr182=) | Developmental and epileptic encephalopathy, 30 [RCV001509927]|Inborn genetic diseases [RCV002316175]|not provided [RCV003432751] | benign|likely benign | 21 | 43421321 | 43421321 | Human | 2 | name |
| 15182525 | CV705722 | single nucleotide variant | NM_173354.5(SIK1):c.453G>A (p.Lys151=) | Developmental and epileptic encephalopathy, 30 [RCV000952238]|Inborn genetic diseases [RCV002337001]|not provided [RCV003432960] | benign|likely benign | 21 | 43421684 | 43421684 | Human | 2 | name |
| 15143638 | CV717232 | single nucleotide variant | NM_173354.5(SIK1):c.855G>A (p.Pro285=) | Developmental and epileptic encephalopathy, 30 [RCV000966701]|not provided [RCV003438635] | benign|likely benign | 21 | 43420351 | 43420351 | Human | 1 | name |
| 15176039 | CV742668 | single nucleotide variant | NM_173354.5(SIK1):c.564G>A (p.Pro188=) | Developmental and epileptic encephalopathy, 30 [RCV000906345] | likely benign | 21 | 43421303 | 43421303 | Human | 1 | name |
| 15118829 | CV757849 | single nucleotide variant | NM_173354.5(SIK1):c.999C>T (p.His333=) | Developmental and epileptic encephalopathy, 30 [RCV001443992] | likely benign | 21 | 43419979 | 43419979 | Human | 1 | name |
| 15151067 | CV757850 | single nucleotide variant | NM_173354.5(SIK1):c.901C>T (p.Leu301=) | Developmental and epileptic encephalopathy, 30 [RCV000923597] | likely benign | 21 | 43420305 | 43420305 | Human | 1 | name |
| 15187383 | CV773366 | single nucleotide variant | NM_173354.5(SIK1):c.984C>T (p.Asn328=) | Developmental and epileptic encephalopathy, 30 [RCV002068677] | likely benign | 21 | 43419994 | 43419994 | Human | 1 | name |
| 15107074 | CV773367 | single nucleotide variant | NM_173354.5(SIK1):c.591G>C (p.Gly197=) | Developmental and epileptic encephalopathy, 30 [RCV001467181] | likely benign | 21 | 43421276 | 43421276 | Human | 1 | name |
| 15187579 | CV773368 | single nucleotide variant | NM_173354.5(SIK1):c.400C>T (p.Leu134=) | Developmental and epileptic encephalopathy, 30 [RCV001425721] | likely benign | 21 | 43421737 | 43421737 | Human | 1 | name |
| 15145719 | CV786509 | single nucleotide variant | NM_173354.5(SIK1):c.372C>T (p.Asn124=) | Developmental and epileptic encephalopathy, 30 [RCV000983714] | likely benign | 21 | 43421765 | 43421765 | Human | 1 | name |
| 26897191 | CV848853 | single nucleotide variant | NM_173354.5(SIK1):c.91C>G (p.Arg31Gly) | Developmental and epileptic encephalopathy, 30 [RCV001048407] | likely benign|uncertain significance | 21 | 43426088 | 43426088 | Human | 1 | name |
| 26917180 | CV848854 | single nucleotide variant | NM_173354.5(SIK1):c.76T>G (p.Phe26Val) | Developmental and epileptic encephalopathy, 30 [RCV001056830] | uncertain significance | 21 | 43426103 | 43426103 | Human | 1 | name |
| 26889945 | CV848855 | single nucleotide variant | NM_173354.5(SIK1):c.50G>A (p.Gly17Asp) | Developmental and epileptic encephalopathy, 30 [RCV001067654] | uncertain significance | 21 | 43426129 | 43426129 | Human | 1 | name |
| 26920772 | CV848856 | single nucleotide variant | NM_173354.5(SIK1):c.37G>A (p.Gly13Ser) | Developmental and epileptic encephalopathy, 30 [RCV001060322] | uncertain significance | 21 | 43426142 | 43426142 | Human | 1 | name |
| 38459993 | CV951254 | single nucleotide variant | NM_173354.5(SIK1):c.88G>C (p.Glu30Gln) | Developmental and epileptic encephalopathy, 30 [RCV001229257] | uncertain significance | 21 | 43426091 | 43426091 | Human | 1 | name |
| 38484740 | CV951255 | single nucleotide variant | NM_173354.5(SIK1):c.46C>G (p.Gln16Glu) | Developmental and epileptic encephalopathy, 30 [RCV001236492] | uncertain significance | 21 | 43426133 | 43426133 | Human | 1 | name |
| 126760656 | CV1014372 | single nucleotide variant | NM_173354.5(SIK1):c.223G>A (p.Val75Ile) | Developmental and epileptic encephalopathy, 30 [RCV001318402] | uncertain significance | 21 | 43425457 | 43425457 | Human | 1 | name |
| 126748044 | CV1014373 | single nucleotide variant | NM_173354.5(SIK1):c.140G>T (p.Arg47Leu) | Developmental and epileptic encephalopathy, 30 [RCV001326265] | uncertain significance | 21 | 43426039 | 43426039 | Human | 1 | name |
| 126730749 | CV1034940 | single nucleotide variant | NM_173354.5(SIK1):c.114C>A (p.Phe38Leu) | Developmental and epileptic encephalopathy, 30 [RCV001349313] | uncertain significance | 21 | 43426065 | 43426065 | Human | 1 | name |
| 126911730 | CV1051915 | single nucleotide variant | NM_173354.5(SIK1):c.1581G>A (p.Gln527=) | Developmental and epileptic encephalopathy, 30 [RCV001369365] | likely benign|uncertain significance | 21 | 43418423 | 43418423 | Human | 1 | name |
| 127237886 | CV1085723 | single nucleotide variant | NM_173354.5(SIK1):c.2139C>T (p.Leu713=) | Developmental and epileptic encephalopathy, 30 [RCV001392387]|Inborn genetic diseases [RCV002432080] | likely benign | 21 | 43416955 | 43416955 | Human | 2 | name |
| 127243981 | CV1085724 | single nucleotide variant | NM_173354.5(SIK1):c.2001G>A (p.Pro667=) | Developmental and epileptic encephalopathy, 30 [RCV001416278] | likely benign | 21 | 43417093 | 43417093 | Human | 1 | name |
| 127248564 | CV1085726 | single nucleotide variant | NM_173354.5(SIK1):c.1551C>T (p.Pro517=) | Developmental and epileptic encephalopathy, 30 [RCV001399422]|not provided [RCV004704526] | likely benign | 21 | 43418453 | 43418453 | Human | 1 | name |
| 127236917 | CV1085727 | single nucleotide variant | NM_173354.5(SIK1):c.1539G>A (p.Ala513=) | Developmental and epileptic encephalopathy, 30 [RCV001392186] | likely benign | 21 | 43418465 | 43418465 | Human | 1 | name |
| 127281331 | CV1085728 | single nucleotide variant | NM_173354.5(SIK1):c.1518C>T (p.Asp506=) | Developmental and epileptic encephalopathy, 30 [RCV001410387]|Inborn genetic diseases [RCV002395926] | likely benign | 21 | 43418486 | 43418486 | Human | 2 | name |
| 127251823 | CV1085730 | single nucleotide variant | NM_173354.5(SIK1):c.1275C>T (p.Cys425=) | Developmental and epileptic encephalopathy, 30 [RCV001400209] | likely benign | 21 | 43419208 | 43419208 | Human | 1 | name |
| 127248471 | CV1085731 | single nucleotide variant | NM_173354.5(SIK1):c.1101G>A (p.Ser367=) | Developmental and epileptic encephalopathy, 30 [RCV001399400]|Inborn genetic diseases [RCV002456629] | likely benign | 21 | 43419877 | 43419877 | Human | 2 | name |
| 127275607 | CV1085732 | single nucleotide variant | NM_173354.5(SIK1):c.1050T>C (p.Asn350=) | Developmental and epileptic encephalopathy, 30 [RCV001406783] | likely benign | 21 | 43419928 | 43419928 | Human | 1 | name |
| 127267364 | CV1107443 | single nucleotide variant | NM_173354.5(SIK1):c.2334G>A (p.Thr778=) | Developmental and epileptic encephalopathy, 30 [RCV001429658] | likely benign | 21 | 43416760 | 43416760 | Human | 1 | name |
| 127241276 | CV1107444 | single nucleotide variant | NM_173354.5(SIK1):c.2193C>T (p.His731=) | Developmental and epileptic encephalopathy, 30 [RCV001423531] | likely benign | 21 | 43416901 | 43416901 | Human | 1 | name |
| 127265289 | CV1107445 | single nucleotide variant | NM_173354.5(SIK1):c.2151C>G (p.Gly717=) | Developmental and epileptic encephalopathy, 30 [RCV001439900] | likely benign | 21 | 43416943 | 43416943 | Human | 1 | name |
| 127281880 | CV1107446 | single nucleotide variant | NM_173354.5(SIK1):c.2091C>T (p.Leu697=) | Developmental and epileptic encephalopathy, 30 [RCV001447452]|not provided [RCV004704563] | likely benign | 21 | 43417003 | 43417003 | Human | 1 | name |
| 127259221 | CV1107447 | single nucleotide variant | NM_173354.5(SIK1):c.2052T>C (p.Phe684=) | Developmental and epileptic encephalopathy, 30 [RCV001427556] | likely benign | 21 | 43417042 | 43417042 | Human | 1 | name |
| 127266250 | CV1107451 | single nucleotide variant | NM_173354.5(SIK1):c.1413G>A (p.Arg471=) | Developmental and epileptic encephalopathy, 30 [RCV001429351] | likely benign | 21 | 43419070 | 43419070 | Human | 1 | name |
| 127273547 | CV1107452 | single nucleotide variant | NM_173354.5(SIK1):c.1137T>C (p.Leu379=) | Developmental and epileptic encephalopathy, 30 [RCV001442588]|Inborn genetic diseases [RCV002456739] | likely benign | 21 | 43419461 | 43419461 | Human | 2 | name |
| 127262269 | CV1107454 | single nucleotide variant | NM_173354.5(SIK1):c.1059C>T (p.Cys353=) | Developmental and epileptic encephalopathy, 30 [RCV001428257]|Inborn genetic diseases [RCV002404999] | likely benign | 21 | 43419919 | 43419919 | Human | 2 | name |
| 127296690 | CV1128846 | single nucleotide variant | NM_173354.5(SIK1):c.2118C>T (p.Leu706=) | Developmental and epileptic encephalopathy, 30 [RCV001477430] | likely benign | 21 | 43416976 | 43416976 | Human | 1 | name |
| 127319500 | CV1128847 | single nucleotide variant | NM_173354.5(SIK1):c.2013C>G (p.Pro671=) | Developmental and epileptic encephalopathy, 30 [RCV001466558] | likely benign | 21 | 43417081 | 43417081 | Human | 1 | name |
| 127300699 | CV1128848 | single nucleotide variant | NM_173354.5(SIK1):c.1914C>T (p.His638=) | Developmental and epileptic encephalopathy, 30 [RCV001453958] | likely benign | 21 | 43417605 | 43417605 | Human | 1 | name |
| 127290387 | CV1128849 | single nucleotide variant | NM_173354.5(SIK1):c.1911G>A (p.Leu637=) | Developmental and epileptic encephalopathy, 30 [RCV001451226]|not provided [RCV004704566] | likely benign | 21 | 43417608 | 43417608 | Human | 1 | name |
| 127303217 | CV1128850 | single nucleotide variant | NM_173354.5(SIK1):c.1887C>T (p.His629=) | Developmental and epileptic encephalopathy, 30 [RCV001461880] | likely benign | 21 | 43417632 | 43417632 | Human | 1 | name |
| 127318181 | CV1128851 | single nucleotide variant | NM_173354.5(SIK1):c.1698C>A (p.Val566=) | Developmental and epileptic encephalopathy, 30 [RCV001466099] | likely benign | 21 | 43418306 | 43418306 | Human | 1 | name |
| 127322599 | CV1128852 | single nucleotide variant | NM_173354.5(SIK1):c.1593C>T (p.Gly531=) | Developmental and epileptic encephalopathy, 30 [RCV001467668] | likely benign | 21 | 43418411 | 43418411 | Human | 1 | name |
| 127336154 | CV1128855 | single nucleotide variant | NM_173354.5(SIK1):c.1353G>A (p.Gly451=) | Developmental and epileptic encephalopathy, 30 [RCV001474790] | likely benign | 21 | 43419130 | 43419130 | Human | 1 | name |
| 127288621 | CV1128856 | single nucleotide variant | NM_173354.5(SIK1):c.1260G>C (p.Pro420=) | Developmental and epileptic encephalopathy, 30 [RCV001450541] | likely benign | 21 | 43419223 | 43419223 | Human | 1 | name |
| 127333319 | CV1149818 | single nucleotide variant | NM_173354.5(SIK1):c.2211C>T (p.Gly737=) | Developmental and epileptic encephalopathy, 30 [RCV001490097] | likely benign | 21 | 43416883 | 43416883 | Human | 1 | name |
| 127327370 | CV1149819 | single nucleotide variant | NM_173354.5(SIK1):c.2109G>A (p.Thr703=) | Developmental and epileptic encephalopathy, 30 [RCV001486334] | likely benign | 21 | 43416985 | 43416985 | Human | 1 | name |
| 127308724 | CV1149820 | single nucleotide variant | NM_173354.5(SIK1):c.2013C>T (p.Pro671=) | Developmental and epileptic encephalopathy, 30 [RCV001500852] | likely benign | 21 | 43417081 | 43417081 | Human | 1 | name |
| 127300365 | CV1149821 | single nucleotide variant | NM_173354.5(SIK1):c.1920C>T (p.Gly640=) | Developmental and epileptic encephalopathy, 30 [RCV001498577] | likely benign | 21 | 43417599 | 43417599 | Human | 1 | name |
| 127301507 | CV1149822 | single nucleotide variant | NM_173354.5(SIK1):c.1635G>A (p.Ser545=) | Developmental and epileptic encephalopathy, 30 [RCV001498861]|not provided [RCV004584915] | likely benign | 21 | 43418369 | 43418369 | Human | 1 | name |
| 127303390 | CV1149823 | single nucleotide variant | NM_173354.5(SIK1):c.1515T>C (p.Ser505=) | Developmental and epileptic encephalopathy, 30 [RCV001499386] | likely benign | 21 | 43418489 | 43418489 | Human | 1 | name |
| 127321359 | CV1149824 | single nucleotide variant | NM_173354.5(SIK1):c.1299C>T (p.Pro433=) | Developmental and epileptic encephalopathy, 30 [RCV001504734]|Inborn genetic diseases [RCV002384850] | likely benign | 21 | 43419184 | 43419184 | Human | 2 | name |
| 127312313 | CV1149825 | single nucleotide variant | NM_173354.5(SIK1):c.1236G>A (p.Ser412=) | Developmental and epileptic encephalopathy, 30 [RCV001501889] | likely benign | 21 | 43419362 | 43419362 | Human | 1 | name |
| 127320647 | CV1159003 | single nucleotide variant | NM_173354.5(SIK1):c.1488G>A (p.Thr496=) | Developmental and epileptic encephalopathy, 30 [RCV001522742]|Inborn genetic diseases [RCV002388571] | benign | 21 | 43418516 | 43418516 | Human | 2 | name |
| 150548404 | CV1316308 | single nucleotide variant | NM_173354.5(SIK1):c.189A>C (p.Leu63Phe) | Inborn genetic diseases [RCV002544293]|not provided [RCV001786109] | uncertain significance | 21 | 43425491 | 43425491 | Human | 1 | name |
| 151862469 | CV1353478 | single nucleotide variant | NM_173354.5(SIK1):c.1746G>T (p.Gly582=) | Developmental and epileptic encephalopathy, 30 [RCV001924176] | likely benign|uncertain significance | 21 | 43417773 | 43417773 | Human | 1 | name |
| 151841818 | CV1379536 | single nucleotide variant | NM_173354.5(SIK1):c.185G>T (p.Arg62Leu) | Developmental and epileptic encephalopathy, 30 [RCV001936213] | uncertain significance | 21 | 43425495 | 43425495 | Human | 1 | name |
| 151867526 | CV1429472 | single nucleotide variant | NM_173354.5(SIK1):c.1587G>A (p.Leu529=) | Developmental and epileptic encephalopathy, 30 [RCV002035242] | likely benign | 21 | 43418417 | 43418417 | Human | 1 | name |
| 151838006 | CV1445295 | single nucleotide variant | NM_173354.5(SIK1):c.200A>G (p.Asn67Ser) | Developmental and epileptic encephalopathy, 30 [RCV001994400] | uncertain significance | 21 | 43425480 | 43425480 | Human | 1 | name |
| 151738811 | CV1455116 | single nucleotide variant | NM_173354.5(SIK1):c.2151C>T (p.Gly717=) | Developmental and epileptic encephalopathy, 30 [RCV002005608] | likely benign|uncertain significance | 21 | 43416943 | 43416943 | Human | 1 | name |
| 151741814 | CV1466920 | single nucleotide variant | NM_173354.5(SIK1):c.209A>G (p.Lys70Arg) | Developmental and epileptic encephalopathy, 30 [RCV001911995] | uncertain significance | 21 | 43425471 | 43425471 | Human | 1 | name |
| 151753693 | CV1501345 | single nucleotide variant | NM_173354.5(SIK1):c.2013C>A (p.Pro671=) | Developmental and epileptic encephalopathy, 30 [RCV001969458] | likely benign|uncertain significance | 21 | 43417081 | 43417081 | Human | 1 | name |
| 151858200 | CV1503487 | single nucleotide variant | NM_173354.5(SIK1):c.1143C>A (p.Thr381=) | Developmental and epileptic encephalopathy, 30 [RCV001996794] | uncertain significance | 21 | 43419455 | 43419455 | Human | 1 | name |
| 151773548 | CV1504930 | deletion | NM_173354.5(SIK1):c.9_11del (p.Ile3del) | Developmental and epileptic encephalopathy, 30 [RCV001988467] | uncertain significance | 21 | 43426168 | 43426170 | Human | 1 | name |
| 152042885 | CV1522257 | single nucleotide variant | NM_173354.5(SIK1):c.2073C>A (p.Gly691=) | Developmental and epileptic encephalopathy, 30 [RCV002088189] | likely benign | 21 | 43417021 | 43417021 | Human | 1 | name |
| 152166346 | CV1524335 | single nucleotide variant | NM_173354.5(SIK1):c.2340C>T (p.Val780=) | Developmental and epileptic encephalopathy, 30 [RCV002141906] | likely benign | 21 | 43416754 | 43416754 | Human | 1 | name |
| 152083236 | CV1526326 | single nucleotide variant | NM_173354.5(SIK1):c.1086G>A (p.Pro362=) | Developmental and epileptic encephalopathy, 30 [RCV002170819] | likely benign | 21 | 43419892 | 43419892 | Human | 1 | name |
| 152117505 | CV1541167 | single nucleotide variant | NM_173354.5(SIK1):c.1869C>T (p.Gly623=) | Developmental and epileptic encephalopathy, 30 [RCV002197594] | likely benign | 21 | 43417650 | 43417650 | Human | 1 | name |
| 152067926 | CV1547557 | single nucleotide variant | NM_173354.5(SIK1):c.2208C>G (p.Thr736=) | Developmental and epileptic encephalopathy, 30 [RCV002074701] | likely benign | 21 | 43416886 | 43416886 | Human | 1 | name |
| 152083973 | CV1554817 | single nucleotide variant | NM_173354.5(SIK1):c.1155A>C (p.Arg385=) | Developmental and epileptic encephalopathy, 30 [RCV002211791] | likely benign | 21 | 43419443 | 43419443 | Human | 1 | name |
| 152125326 | CV1580761 | single nucleotide variant | NM_173354.5(SIK1):c.1434C>T (p.Ser478=) | Developmental and epileptic encephalopathy, 30 [RCV002082131] | likely benign | 21 | 43419049 | 43419049 | Human | 1 | name |
| 152124030 | CV1587344 | single nucleotide variant | NM_173354.5(SIK1):c.2004C>T (p.Ala668=) | Developmental and epileptic encephalopathy, 30 [RCV002136083] | likely benign | 21 | 43417090 | 43417090 | Human | 1 | name |
| 152045285 | CV1600105 | single nucleotide variant | NM_173354.5(SIK1):c.1479C>G (p.Pro493=) | Developmental and epileptic encephalopathy, 30 [RCV002088481] | likely benign | 21 | 43418525 | 43418525 | Human | 1 | name |
| 152037570 | CV1605656 | single nucleotide variant | NM_173354.5(SIK1):c.2112G>C (p.Ser704=) | Developmental and epileptic encephalopathy, 30 [RCV002087472] | likely benign | 21 | 43416982 | 43416982 | Human | 1 | name |
| 152070637 | CV1628444 | single nucleotide variant | NM_173354.5(SIK1):c.2133C>G (p.Pro711=) | Developmental and epileptic encephalopathy, 30 [RCV002169243] | likely benign | 21 | 43416961 | 43416961 | Human | 1 | name |
| 152085494 | CV1633506 | single nucleotide variant | NM_173354.5(SIK1):c.1635G>T (p.Ser545=) | Developmental and epileptic encephalopathy, 30 [RCV002113329] | likely benign | 21 | 43418369 | 43418369 | Human | 1 | name |
| 152107656 | CV1634639 | single nucleotide variant | NM_173354.5(SIK1):c.1563T>C (p.Ser521=) | Developmental and epileptic encephalopathy, 30 [RCV002079822] | likely benign | 21 | 43418441 | 43418441 | Human | 1 | name |
| 152130935 | CV1636848 | single nucleotide variant | NM_173354.5(SIK1):c.1191G>C (p.Val397=) | Developmental and epileptic encephalopathy, 30 [RCV002199309] | likely benign | 21 | 43419407 | 43419407 | Human | 1 | name |
| 152113267 | CV1644560 | single nucleotide variant | NM_173354.5(SIK1):c.1605G>T (p.Pro535=) | Developmental and epileptic encephalopathy, 30 [RCV002174599] | likely benign | 21 | 43418399 | 43418399 | Human | 1 | name |
| 152116632 | CV1645741 | single nucleotide variant | NM_173354.5(SIK1):c.2130G>A (p.Pro710=) | Developmental and epileptic encephalopathy, 30 [RCV002175016] | likely benign | 21 | 43416964 | 43416964 | Human | 1 | name |
| 152137517 | CV1652360 | single nucleotide variant | NM_173354.5(SIK1):c.1410G>C (p.Arg470=) | Developmental and epileptic encephalopathy, 30 [RCV002083712] | likely benign | 21 | 43419073 | 43419073 | Human | 1 | name |
| 152173703 | CV1655787 | single nucleotide variant | NM_173354.5(SIK1):c.2037G>A (p.Pro679=) | Developmental and epileptic encephalopathy, 30 [RCV002184264] | likely benign | 21 | 43417057 | 43417057 | Human | 1 | name |
| 152155069 | CV1658057 | single nucleotide variant | NM_173354.5(SIK1):c.1419C>T (p.Thr473=) | Developmental and epileptic encephalopathy, 30 [RCV002180021] | likely benign | 21 | 43419064 | 43419064 | Human | 1 | name |
| 152131732 | CV1660352 | single nucleotide variant | NM_173354.5(SIK1):c.2311C>T (p.Leu771=) | Developmental and epileptic encephalopathy, 30 [RCV002176889] | likely benign | 21 | 43416783 | 43416783 | Human | 1 | name |
| 155702453 | CV1800533 | single nucleotide variant | NM_173354.5(SIK1):c.1209C>T (p.Ala403=) | Developmental and epileptic encephalopathy, 30 [RCV003103228]|Inborn genetic diseases [RCV002359613] | likely benign | 21 | 43419389 | 43419389 | Human | 2 | name |
| 155689991 | CV1826767 | single nucleotide variant | NM_173354.5(SIK1):c.1425C>T (p.Ala475=) | Developmental and epileptic encephalopathy, 30 [RCV003750919]|Inborn genetic diseases [RCV002391917] | likely benign | 21 | 43419058 | 43419058 | Human | 2 | name |
| 155801835 | CV1864146 | single nucleotide variant | NM_173354.5(SIK1):c.190G>A (p.Asp64Asn) | Developmental and epileptic encephalopathy, 30 [RCV003588845]|not provided [RCV002475099] | uncertain significance | 21 | 43425490 | 43425490 | Human | 1 | name |
| 156054327 | CV1882006 | single nucleotide variant | NM_173354.5(SIK1):c.2115G>A (p.Gly705=) | Developmental and epileptic encephalopathy, 30 [RCV003078993] | likely benign | 21 | 43416979 | 43416979 | Human | 1 | name |
| 156154839 | CV1896205 | single nucleotide variant | NM_173354.5(SIK1):c.110A>C (p.Asn37Thr) | Developmental and epileptic encephalopathy, 30 [RCV003082676] | uncertain significance | 21 | 43426069 | 43426069 | Human | 1 | name |
| 156412671 | CV1904539 | single nucleotide variant | NM_173354.5(SIK1):c.1908C>T (p.Gly636=) | Developmental and epileptic encephalopathy, 30 [RCV002587905] | likely benign | 21 | 43417611 | 43417611 | Human | 1 | name |
| 156396689 | CV1924953 | single nucleotide variant | NM_173354.5(SIK1):c.1371G>A (p.Glu457=) | Developmental and epileptic encephalopathy, 30 [RCV002654976] | likely benign | 21 | 43419112 | 43419112 | Human | 1 | name |
| 156017173 | CV2019123 | single nucleotide variant | NM_173354.5(SIK1):c.1461A>G (p.Pro487=) | Developmental and epileptic encephalopathy, 30 [RCV002690824] | uncertain significance | 21 | 43419022 | 43419022 | Human | 1 | name |
| 156327203 | CV2050366 | single nucleotide variant | NM_173354.5(SIK1):c.1668G>T (p.Gly556=) | Developmental and epileptic encephalopathy, 30 [RCV002810465] | likely benign | 21 | 43418336 | 43418336 | Human | 1 | name |
| 156324426 | CV2053993 | single nucleotide variant | NM_173354.5(SIK1):c.1923A>G (p.Ala641=) | Developmental and epileptic encephalopathy, 30 [RCV002810299] | likely benign | 21 | 43417596 | 43417596 | Human | 1 | name |
| 155999333 | CV2057330 | deletion | NM_173354.5(SIK1):c.988del (p.Ser330fs) | Developmental and epileptic encephalopathy, 30 [RCV002819572] | uncertain significance | 21 | 43419990 | 43419990 | Human | 1 | name |
| 156162092 | CV2096926 | single nucleotide variant | NM_173354.5(SIK1):c.1149T>C (p.Pro383=) | Developmental and epileptic encephalopathy, 30 [RCV002872698] | likely benign | 21 | 43419449 | 43419449 | Human | 1 | name |
| 155938901 | CV2110546 | single nucleotide variant | NM_173354.5(SIK1):c.1572G>A (p.Pro524=) | Developmental and epileptic encephalopathy, 30 [RCV002904332] | likely benign | 21 | 43418432 | 43418432 | Human | 1 | name |
| 155939845 | CV2110625 | single nucleotide variant | NM_173354.5(SIK1):c.1788C>T (p.Thr596=) | Developmental and epileptic encephalopathy, 30 [RCV002904393] | likely benign | 21 | 43417731 | 43417731 | Human | 1 | name |
| 156137293 | CV2129106 | single nucleotide variant | NM_173354.5(SIK1):c.1962G>A (p.Val654=) | Developmental and epileptic encephalopathy, 30 [RCV002954096] | likely benign | 21 | 43417557 | 43417557 | Human | 1 | name |
| 156394299 | CV2141162 | single nucleotide variant | NM_173354.5(SIK1):c.1230G>A (p.Gln410=) | Developmental and epileptic encephalopathy, 30 [RCV002944254] | likely benign | 21 | 43419368 | 43419368 | Human | 1 | name |
| 155952940 | CV2143709 | single nucleotide variant | NM_173354.5(SIK1):c.158T>C (p.Val53Ala) | Developmental and epileptic encephalopathy, 30 [RCV002994734] | uncertain significance | 21 | 43425522 | 43425522 | Human | 1 | name |
| 156094662 | CV2152030 | single nucleotide variant | NM_173354.5(SIK1):c.136C>G (p.His46Asp) | Developmental and epileptic encephalopathy, 30 [RCV003020814] | uncertain significance | 21 | 43426043 | 43426043 | Human | 1 | name |
| 156213916 | CV2171090 | single nucleotide variant | NM_173354.5(SIK1):c.2250C>T (p.Ala750=) | Developmental and epileptic encephalopathy, 30 [RCV003042439] | likely benign | 21 | 43416844 | 43416844 | Human | 1 | name |
| 156210763 | CV2175678 | single nucleotide variant | NM_173354.5(SIK1):c.1425C>G (p.Ala475=) | Developmental and epileptic encephalopathy, 30 [RCV003024798] | likely benign | 21 | 43419058 | 43419058 | Human | 1 | name |
| 401743056 | CV2715384 | single nucleotide variant | NM_173354.5(SIK1):c.263A>G (p.Lys88Arg) | Inborn genetic diseases [RCV003292983] | uncertain significance | 21 | 43425417 | 43425417 | Human | 1 | name |
| 401892060 | CV2777200 | single nucleotide variant | NM_173354.5(SIK1):c.278T>C (p.Met93Thr) | Inborn genetic diseases [RCV003369755] | uncertain significance | 21 | 43422033 | 43422033 | Human | 1 | name |
| 401920151 | CV2824805 | single nucleotide variant | NM_173354.5(SIK1):c.1710G>A (p.Glu570=) | not provided [RCV003431523] | likely benign | 21 | 43418294 | 43418294 | Human | | name |
| 405187600 | CV2854706 | single nucleotide variant | NM_173354.5(SIK1):c.256A>G (p.Ile86Val) | Developmental and epileptic encephalopathy, 30 [RCV003589561] | uncertain significance | 21 | 43425424 | 43425424 | Human | 1 | name |
| 405196981 | CV2868204 | single nucleotide variant | NM_173354.5(SIK1):c.1695T>C (p.Pro565=) | Developmental and epileptic encephalopathy, 30 [RCV003590530] | likely benign | 21 | 43418309 | 43418309 | Human | 1 | name |
| 405185375 | CV2900599 | single nucleotide variant | NM_173354.5(SIK1):c.208A>G (p.Lys70Glu) | Developmental and epileptic encephalopathy, 30 [RCV003589217] | uncertain significance | 21 | 43425472 | 43425472 | Human | 1 | name |
| 405199161 | CV2923326 | single nucleotide variant | NM_173354.5(SIK1):c.288G>C (p.Lys96Asn) | Developmental and epileptic encephalopathy, 30 [RCV003590999] | uncertain significance | 21 | 43422023 | 43422023 | Human | 1 | name |
| 405200409 | CV2927563 | single nucleotide variant | NM_173354.5(SIK1):c.2160G>A (p.Pro720=) | Developmental and epileptic encephalopathy, 30 [RCV003591070] | likely benign | 21 | 43416934 | 43416934 | Human | 1 | name |
| 405195532 | CV2931905 | single nucleotide variant | NM_173354.5(SIK1):c.1095G>A (p.Arg365=) | Developmental and epileptic encephalopathy, 30 [RCV003590419] | likely benign | 21 | 43419883 | 43419883 | Human | 1 | name |
| 405199716 | CV2933422 | single nucleotide variant | NM_173354.5(SIK1):c.179A>C (p.Lys60Thr) | Developmental and epileptic encephalopathy, 30 [RCV003591063] | uncertain significance | 21 | 43425501 | 43425501 | Human | 1 | name |
| 405108936 | CV2961258 | single nucleotide variant | NM_173354.5(SIK1):c.2148C>G (p.Thr716=) | Developmental and epileptic encephalopathy, 30 [RCV003751173] | likely benign | 21 | 43416946 | 43416946 | Human | 1 | name |
| 405111616 | CV2970749 | single nucleotide variant | NM_173354.5(SIK1):c.1692C>T (p.Leu564=) | Developmental and epileptic encephalopathy, 30 [RCV003751657] | likely benign | 21 | 43418312 | 43418312 | Human | 1 | name |
| 405112773 | CV2973122 | single nucleotide variant | NM_173354.5(SIK1):c.1398C>T (p.Ser466=) | Developmental and epileptic encephalopathy, 30 [RCV003751790] | likely benign | 21 | 43419085 | 43419085 | Human | 1 | name |
| 405113189 | CV2987846 | single nucleotide variant | NM_173354.5(SIK1):c.2238A>G (p.Pro746=) | Developmental and epileptic encephalopathy, 30 [RCV003751877] | likely benign | 21 | 43416856 | 43416856 | Human | 1 | name |
| 405113286 | CV2988173 | single nucleotide variant | NM_173354.5(SIK1):c.2220C>T (p.Ala740=) | Developmental and epileptic encephalopathy, 30 [RCV003751898] | likely benign | 21 | 43416874 | 43416874 | Human | 1 | name |
| 405113597 | CV2990632 | single nucleotide variant | NM_173354.5(SIK1):c.1761G>A (p.Arg587=) | Developmental and epileptic encephalopathy, 30 [RCV003751997] | likely benign | 21 | 43417758 | 43417758 | Human | 1 | name |
| 405117146 | CV3022197 | single nucleotide variant | NM_173354.5(SIK1):c.2196G>A (p.Leu732=) | Developmental and epileptic encephalopathy, 30 [RCV003752465] | likely benign | 21 | 43416898 | 43416898 | Human | 1 | name |
| 405107377 | CV3057626 | single nucleotide variant | NM_173354.5(SIK1):c.1869C>A (p.Gly623=) | Developmental and epileptic encephalopathy, 30 [RCV003750719] | likely benign | 21 | 43417650 | 43417650 | Human | 1 | name |
| 405203744 | CV3116762 | single nucleotide variant | NM_173354.5(SIK1):c.2016C>G (p.Gly672=) | Developmental and epileptic encephalopathy, 30 [RCV003822246] | likely benign | 21 | 43417078 | 43417078 | Human | 1 | name |
| 405183740 | CV3124042 | single nucleotide variant | NM_173354.5(SIK1):c.1449A>G (p.Pro483=) | Developmental and epileptic encephalopathy, 30 [RCV003820238] | likely benign | 21 | 43419034 | 43419034 | Human | 1 | name |
| 405154663 | CV3135143 | single nucleotide variant | NM_173354.5(SIK1):c.1909C>T (p.Leu637=) | Developmental and epileptic encephalopathy, 30 [RCV003840255] | likely benign | 21 | 43417610 | 43417610 | Human | 1 | name |
| 402477701 | CV3170160 | single nucleotide variant | NM_173354.5(SIK1):c.1089G>A (p.Arg363=) | Developmental and epileptic encephalopathy, 30 [RCV003875548] | likely benign | 21 | 43419889 | 43419889 | Human | 1 | name |
| 402465829 | CV3177358 | single nucleotide variant | NM_173354.5(SIK1):c.1362A>G (p.Leu454=) | Developmental and epileptic encephalopathy, 30 [RCV003872989] | likely benign | 21 | 43419121 | 43419121 | Human | 1 | name |
| 402492174 | CV3182411 | single nucleotide variant | NM_173354.5(SIK1):c.1302G>T (p.Val434=) | Developmental and epileptic encephalopathy, 30 [RCV003876897] | likely benign | 21 | 43419181 | 43419181 | Human | 1 | name |
| 405281941 | CV3224616 | single nucleotide variant | NM_173354.5(SIK1):c.184C>T (p.Arg62Ter) | Developmental and epileptic encephalopathy, 30 [RCV003988951] | uncertain significance | 21 | 43425496 | 43425496 | Human | 1 | name |
| 407427490 | CV3410470 | single nucleotide variant | NM_173354.5(SIK1):c.2259C>A (p.Ala753=) | not specified [RCV004586117] | likely benign | 21 | 43416835 | 43416835 | Human | | name |
| 597709065 | CV3599227 | single nucleotide variant | NM_173354.5(SIK1):c.223G>T (p.Val75Phe) | Developmental and epileptic encephalopathy, 30 [RCV005107868]|Inborn genetic diseases [RCV004957780] | uncertain significance | 21 | 43425457 | 43425457 | Human | 2 | name |
| 597709075 | CV3599229 | single nucleotide variant | NM_173354.5(SIK1):c.121G>T (p.Val41Leu) | Inborn genetic diseases [RCV004957782] | uncertain significance | 21 | 43426058 | 43426058 | Human | 1 | name |
| 597895665 | CV3744198 | single nucleotide variant | NM_173354.5(SIK1):c.1959G>A (p.Glu653=) | Developmental and epileptic encephalopathy, 30 [RCV005071668] | likely benign | 21 | 43417560 | 43417560 | Human | 1 | name |
| 597877761 | CV3744296 | single nucleotide variant | NM_173354.5(SIK1):c.1845C>G (p.Ala615=) | Developmental and epileptic encephalopathy, 30 [RCV005069510] | likely benign | 21 | 43417674 | 43417674 | Human | 1 | name |
| 597868396 | CV3764464 | single nucleotide variant | NM_173354.5(SIK1):c.277A>G (p.Met93Val) | Developmental and epileptic encephalopathy, 30 [RCV005107264] | uncertain significance | 21 | 43422034 | 43422034 | Human | 1 | name |
| 597871020 | CV3768265 | single nucleotide variant | NM_173354.5(SIK1):c.1527G>A (p.Leu509=) | Developmental and epileptic encephalopathy, 30 [RCV005122644] | likely benign | 21 | 43418477 | 43418477 | Human | 1 | name |
| 597906566 | CV3772898 | single nucleotide variant | NM_173354.5(SIK1):c.269A>T (p.Tyr90Phe) | Developmental and epileptic encephalopathy, 30 [RCV005112963] | uncertain significance | 21 | 43425411 | 43425411 | Human | 1 | name |
| 597893085 | CV3784902 | single nucleotide variant | NM_173354.5(SIK1):c.1860C>A (p.Ala620=) | Developmental and epileptic encephalopathy, 30 [RCV005125681] | likely benign | 21 | 43417659 | 43417659 | Human | 1 | name |
| 597937567 | CV3787907 | single nucleotide variant | NM_173354.5(SIK1):c.1855C>A (p.Arg619=) | Developmental and epileptic encephalopathy, 30 [RCV005132786] | likely benign | 21 | 43417664 | 43417664 | Human | 1 | name |
| 597956659 | CV3792397 | single nucleotide variant | NM_173354.5(SIK1):c.1797T>C (p.Phe599=) | Developmental and epileptic encephalopathy, 30 [RCV005137284] | likely benign | 21 | 43417722 | 43417722 | Human | 1 | name |
| 597849799 | CV3793136 | single nucleotide variant | NM_173354.5(SIK1):c.1020C>T (p.Leu340=) | Developmental and epileptic encephalopathy, 30 [RCV005145272] | likely benign | 21 | 43419958 | 43419958 | Human | 1 | name |
| 597898196 | CV3806920 | single nucleotide variant | NM_173354.5(SIK1):c.1881C>T (p.Pro627=) | Developmental and epileptic encephalopathy, 30 [RCV005152307] | likely benign | 21 | 43417638 | 43417638 | Human | 1 | name |
| 597922596 | CV3812265 | single nucleotide variant | NM_173354.5(SIK1):c.1515T>G (p.Ser505=) | Developmental and epileptic encephalopathy, 30 [RCV005155902] | likely benign | 21 | 43418489 | 43418489 | Human | 1 | name |
| 597956901 | CV3818087 | single nucleotide variant | NM_173354.5(SIK1):c.1452C>T (p.Leu484=) | Developmental and epileptic encephalopathy, 30 [RCV005162538] | likely benign | 21 | 43419031 | 43419031 | Human | 1 | name |
| 597941420 | CV3819272 | single nucleotide variant | NM_173354.5(SIK1):c.2310C>T (p.Asp770=) | Developmental and epileptic encephalopathy, 30 [RCV005159082] | likely benign | 21 | 43416784 | 43416784 | Human | 1 | name |
| 597876967 | CV3825710 | single nucleotide variant | NM_173354.5(SIK1):c.2049G>C (p.Pro683=) | Developmental and epileptic encephalopathy, 30 [RCV005177584] | likely benign | 21 | 43417045 | 43417045 | Human | 1 | name |
| 597974599 | CV3831736 | single nucleotide variant | NM_173354.5(SIK1):c.1806G>A (p.Leu602=) | Developmental and epileptic encephalopathy, 30 [RCV005168675] | likely benign | 21 | 43417713 | 43417713 | Human | 1 | name |
| 597946303 | CV3841622 | single nucleotide variant | NM_173354.5(SIK1):c.2322C>T (p.Cys774=) | Developmental and epileptic encephalopathy, 30 [RCV005189055] | likely benign | 21 | 43416772 | 43416772 | Human | 1 | name |
| 597861794 | CV3850835 | single nucleotide variant | NM_173354.5(SIK1):c.1269C>T (p.Ala423=) | Developmental and epileptic encephalopathy, 30 [RCV005195968] | likely benign | 21 | 43419214 | 43419214 | Human | 1 | name |
| 597913628 | CV3850996 | single nucleotide variant | NM_173354.5(SIK1):c.2160G>C (p.Pro720=) | Developmental and epileptic encephalopathy, 30 [RCV005203964] | likely benign | 21 | 43416934 | 43416934 | Human | 1 | name |
| 597886122 | CV3854897 | single nucleotide variant | NM_173354.5(SIK1):c.1122G>A (p.Val374=) | Developmental and epileptic encephalopathy, 30 [RCV005199742] | likely benign | 21 | 43419476 | 43419476 | Human | 1 | name |
| 13470134 | CV442312 | single nucleotide variant | NM_173354.5(SIK1):c.1455C>T (p.Thr485=) | Developmental and epileptic encephalopathy, 30 [RCV000556496]|Inborn genetic diseases [RCV002311839]|not provided [RCV004712872]|not specified [RCV000516916] | benign | 21 | 43419028 | 43419028 | Human | 2 | name |
| 13499388 | CV469657 | single nucleotide variant | NM_173354.5(SIK1):c.1926C>T (p.Ala642=) | Developmental and epileptic encephalopathy, 30 [RCV000532637]|Inborn genetic diseases [RCV002413636]|not provided [RCV004704097] | benign|likely benign | 21 | 43417593 | 43417593 | Human | 2 | name |
| 13500931 | CV469661 | single nucleotide variant | NM_173354.5(SIK1):c.1554G>T (p.Ala518=) | Developmental and epileptic encephalopathy, 30 [RCV000538949]|Inborn genetic diseases [RCV002311885]|not provided [RCV004714078] | benign | 21 | 43418450 | 43418450 | Human | 2 | name |
| 13465465 | CV470697 | single nucleotide variant | NM_173354.5(SIK1):c.2142G>A (p.Leu714=) | Developmental and epileptic encephalopathy, 30 [RCV000547209]|Inborn genetic diseases [RCV002315035] | benign|likely benign | 21 | 43416952 | 43416952 | Human | 2 | name |
| 13466724 | CV470714 | single nucleotide variant | NM_173354.5(SIK1):c.1782G>A (p.Thr594=) | Developmental and epileptic encephalopathy, 30 [RCV000552354]|Inborn genetic diseases [RCV002404561]|not provided [RCV003431120] | benign|likely benign | 21 | 43417737 | 43417737 | Human | 2 | name |
| 13498027 | CV470715 | single nucleotide variant | NM_173354.5(SIK1):c.1605G>A (p.Pro535=) | Developmental and epileptic encephalopathy, 30 [RCV001083721]|Inborn genetic diseases [RCV002311886]|not provided [RCV000713288]|not specified [RCV005000212] | benign | 21 | 43418399 | 43418399 | Human | 2 | name |
| 13468106 | CV470722 | single nucleotide variant | NM_173354.5(SIK1):c.1470C>T (p.Val490=) | Developmental and epileptic encephalopathy, 30 [RCV000557287]|Inborn genetic diseases [RCV002311884]|not provided [RCV003431119] | benign|likely benign | 21 | 43418534 | 43418534 | Human | 2 | name |
| 13499133 | CV471233 | single nucleotide variant | NM_173354.5(SIK1):c.1404G>A (p.Thr468=) | Developmental and epileptic encephalopathy, 30 [RCV000531623]|Inborn genetic diseases [RCV002316584] | likely benign | 21 | 43419079 | 43419079 | Human | 2 | name |
| 13498657 | CV471235 | single nucleotide variant | NM_173354.5(SIK1):c.1077C>T (p.Ala359=) | Developmental and epileptic encephalopathy, 30 [RCV000529739]|Inborn genetic diseases [RCV002315031]|not provided [RCV002060366] | benign|likely benign | 21 | 43419901 | 43419901 | Human | 2 | name |
| 13498793 | CV471674 | single nucleotide variant | NM_173354.5(SIK1):c.2121G>A (p.Pro707=) | Developmental and epileptic encephalopathy, 30 [RCV000530212]|Inborn genetic diseases [RCV002316587] | likely benign | 21 | 43416973 | 43416973 | Human | 2 | name |
| 13501313 | CV471676 | single nucleotide variant | NM_173354.5(SIK1):c.2049G>A (p.Pro683=) | Developmental and epileptic encephalopathy, 30 [RCV000540526]|Inborn genetic diseases [RCV002315033]|not provided [RCV003437286] | benign|likely benign | 21 | 43417045 | 43417045 | Human | 2 | name |
| 13501086 | CV471679 | single nucleotide variant | NM_173354.5(SIK1):c.1641C>T (p.Ser547=) | Developmental and epileptic encephalopathy, 30 [RCV000539603]|not provided [RCV003437285] | likely benign | 21 | 43418363 | 43418363 | Human | 1 | name |
| 13466250 | CV471681 | single nucleotide variant | NM_173354.5(SIK1):c.1482C>T (p.Ser494=) | Developmental and epileptic encephalopathy, 30 [RCV000550361] | likely benign | 21 | 43418522 | 43418522 | Human | 1 | name |
| 13464800 | CV471695 | single nucleotide variant | NM_173354.5(SIK1):c.1416C>T (p.His472=) | Developmental and epileptic encephalopathy, 30 [RCV000543964] | likely benign | 21 | 43419067 | 43419067 | Human | 1 | name |
| 13625290 | CV533905 | single nucleotide variant | NM_173354.5(SIK1):c.2208C>T (p.Thr736=) | Developmental and epileptic encephalopathy, 30 [RCV000653202] | likely benign | 21 | 43416886 | 43416886 | Human | 1 | name |
| 13625286 | CV533906 | single nucleotide variant | NM_173354.5(SIK1):c.2202T>C (p.Ile734=) | Developmental and epileptic encephalopathy, 30 [RCV000653197]|Inborn genetic diseases [RCV002424538] | likely benign | 21 | 43416892 | 43416892 | Human | 2 | name |
| 13625293 | CV533907 | single nucleotide variant | NM_173354.5(SIK1):c.1875G>T (p.Leu625=) | Developmental and epileptic encephalopathy, 30 [RCV000653205]|not provided [RCV004568464] | likely benign | 21 | 43417644 | 43417644 | Human | 1 | name |
| 13625288 | CV533910 | single nucleotide variant | NM_173354.5(SIK1):c.1992G>A (p.Gln664=) | Developmental and epileptic encephalopathy, 30 [RCV000653199] | likely benign | 21 | 43417102 | 43417102 | Human | 1 | name |
| 13625292 | CV533921 | single nucleotide variant | NM_173354.5(SIK1):c.1368G>A (p.Glu456=) | Developmental and epileptic encephalopathy, 30 [RCV000653204] | likely benign | 21 | 43419115 | 43419115 | Human | 1 | name |
| 13625287 | CV533925 | single nucleotide variant | NM_173354.5(SIK1):c.1278C>T (p.Ser426=) | Developmental and epileptic encephalopathy, 30 [RCV000653198] | benign | 21 | 43419205 | 43419205 | Human | 1 | name |
| 13625295 | CV533951 | single nucleotide variant | NM_173354.5(SIK1):c.2160G>T (p.Pro720=) | Developmental and epileptic encephalopathy, 30 [RCV000653207]|Inborn genetic diseases [RCV002317899] | benign|likely benign | 21 | 43416934 | 43416934 | Human | 2 | name |
| 13625291 | CV533953 | single nucleotide variant | NM_173354.5(SIK1):c.1917C>T (p.Gly639=) | Developmental and epileptic encephalopathy, 30 [RCV000653203] | likely benign | 21 | 43417602 | 43417602 | Human | 1 | name |
| 13625297 | CV534454 | single nucleotide variant | NM_173354.5(SIK1):c.1530C>G (p.Thr510=) | Developmental and epileptic encephalopathy, 30 [RCV000653209] | likely benign | 21 | 43418474 | 43418474 | Human | 1 | name |
| 13806178 | CV573143 | single nucleotide variant | NM_173354.5(SIK1):c.233T>C (p.Met78Thr) | Developmental and epileptic encephalopathy, 30 [RCV000686108] | uncertain significance | 21 | 43425447 | 43425447 | Human | 1 | name |
| 13801453 | CV577895 | single nucleotide variant | NM_173354.5(SIK1):c.1848C>T (p.Pro616=) | Developmental and epileptic encephalopathy, 30 [RCV001511473]|Inborn genetic diseases [RCV002312251]|not provided [RCV000713290]|not specified [RCV004597869] | benign | 21 | 43417671 | 43417671 | Human | 2 | name |
| 13829990 | CV580464 | single nucleotide variant | NM_173354.5(SIK1):c.2166C>T (p.Ala722=) | Developmental and epileptic encephalopathy, 30 [RCV003768145]|Inborn genetic diseases [RCV002318781] | likely benign | 21 | 43416928 | 43416928 | Human | 2 | name |
| 13830589 | CV580467 | single nucleotide variant | NM_173354.5(SIK1):c.2148C>T (p.Thr716=) | Developmental and epileptic encephalopathy, 30 [RCV001485763]|Inborn genetic diseases [RCV002318184]|not provided [RCV004704197] | likely benign | 21 | 43416946 | 43416946 | Human | 2 | name |
| 13829860 | CV580474 | single nucleotide variant | NM_173354.5(SIK1):c.2127G>A (p.Leu709=) | Developmental and epileptic encephalopathy, 30 [RCV002067044]|Inborn genetic diseases [RCV002318654] | likely benign | 21 | 43416967 | 43416967 | Human | 2 | name |
| 13830524 | CV580477 | single nucleotide variant | NM_173354.5(SIK1):c.2112G>A (p.Ser704=) | Developmental and epileptic encephalopathy, 30 [RCV001034082]|Inborn genetic diseases [RCV002317641]|not provided [RCV000997834] | benign|likely benign|uncertain significance | 21 | 43416982 | 43416982 | Human | 2 | name |
| 13829790 | CV580586 | single nucleotide variant | NM_173354.5(SIK1):c.2182C>T (p.Leu728=) | Developmental and epileptic encephalopathy, 30 [RCV000959505]|Inborn genetic diseases [RCV002318093] | likely benign | 21 | 43416912 | 43416912 | Human | 2 | name |
| 13829037 | CV580588 | single nucleotide variant | NM_173354.5(SIK1):c.2154G>A (p.Ala718=) | Developmental and epileptic encephalopathy, 30 [RCV001434050]|Inborn genetic diseases [RCV002314455] | likely benign | 21 | 43416940 | 43416940 | Human | 2 | name |
| 13829541 | CV580633 | single nucleotide variant | NM_173354.5(SIK1):c.2217C>T (p.Thr739=) | Developmental and epileptic encephalopathy, 30 [RCV000929977]|Inborn genetic diseases [RCV002315394]|not provided [RCV003432757] | likely benign | 21 | 43416877 | 43416877 | Human | 2 | name |
| 13830413 | CV580644 | single nucleotide variant | NM_173354.5(SIK1):c.1179G>A (p.Pro393=) | Developmental and epileptic encephalopathy, 30 [RCV001089340]|Inborn genetic diseases [RCV002317535]|not provided [RCV000951895] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 43419419 | 43419419 | Human | 2 | name |
| 13828369 | CV580645 | single nucleotide variant | NM_173354.5(SIK1):c.1143C>T (p.Thr381=) | Developmental and epileptic encephalopathy, 30 [RCV001444870]|Inborn genetic diseases [RCV002312379] | likely benign | 21 | 43419455 | 43419455 | Human | 2 | name |
| 14708793 | CV650487 | single nucleotide variant | NM_173354.5(SIK1):c.1260G>A (p.Pro420=) | Developmental and epileptic encephalopathy, 30 [RCV000810364] | uncertain significance | 21 | 43419223 | 43419223 | Human | 1 | name |
| 14709337 | CV650502 | single nucleotide variant | NM_173354.5(SIK1):c.232A>T (p.Met78Leu) | Developmental and epileptic encephalopathy, 30 [RCV000811716] | uncertain significance | 21 | 43425448 | 43425448 | Human | 1 | name |
| 15174378 | CV705718 | single nucleotide variant | NM_173354.5(SIK1):c.1725G>A (p.Ser575=) | Developmental and epileptic encephalopathy, 30 [RCV000950334] | likely benign | 21 | 43418279 | 43418279 | Human | 1 | name |
| 15181362 | CV705719 | single nucleotide variant | NM_173354.5(SIK1):c.1395C>T (p.Pro465=) | Developmental and epileptic encephalopathy, 30 [RCV001402336]|Inborn genetic diseases [RCV002391001] | likely benign | 21 | 43419088 | 43419088 | Human | 2 | name |
| 15152459 | CV705721 | single nucleotide variant | NM_173354.5(SIK1):c.1086G>T (p.Pro362=) | Developmental and epileptic encephalopathy, 30 [RCV000945887]|Inborn genetic diseases [RCV002427376] | likely benign | 21 | 43419892 | 43419892 | Human | 2 | name |
| 15108126 | CV717230 | single nucleotide variant | NM_173354.5(SIK1):c.1197C>T (p.Ser399=) | Developmental and epileptic encephalopathy, 30 [RCV001435381]|not provided [RCV000960425] | likely benign | 21 | 43419401 | 43419401 | Human | 1 | name |
| 15188298 | CV728928 | single nucleotide variant | NM_173354.5(SIK1):c.2226C>T (p.Pro742=) | Developmental and epileptic encephalopathy, 30 [RCV000887493]|Inborn genetic diseases [RCV002427243]|not provided [RCV003432879] | likely benign | 21 | 43416868 | 43416868 | Human | 2 | name |
| 15166086 | CV728929 | single nucleotide variant | NM_173354.5(SIK1):c.2088G>A (p.Pro696=) | Developmental and epileptic encephalopathy, 30 [RCV000882554]|not provided [RCV001200273] | likely benign | 21 | 43417006 | 43417006 | Human | 1 | name |
| 15170182 | CV728930 | single nucleotide variant | NM_173354.5(SIK1):c.1623C>T (p.Pro541=) | Developmental and epileptic encephalopathy, 30 [RCV000883421]|not provided [RCV003432875] | likely benign | 21 | 43418381 | 43418381 | Human | 1 | name |
| 15194470 | CV728931 | single nucleotide variant | NM_173354.5(SIK1):c.1560C>T (p.Leu520=) | Developmental and epileptic encephalopathy, 30 [RCV000889232] | benign | 21 | 43418444 | 43418444 | Human | 1 | name |
| 15188739 | CV728932 | single nucleotide variant | NM_173354.5(SIK1):c.1380G>A (p.Thr460=) | Developmental and epileptic encephalopathy, 30 [RCV000887624]|not provided [RCV001815455] | likely benign | 21 | 43419103 | 43419103 | Human | 1 | name |
| 15172072 | CV742662 | single nucleotide variant | NM_173354.5(SIK1):c.2175G>A (p.Ala725=) | Developmental and epileptic encephalopathy, 30 [RCV000905596]|Inborn genetic diseases [RCV002427262] | likely benign | 21 | 43416919 | 43416919 | Human | 2 | name |
| 15149367 | CV742663 | single nucleotide variant | NM_173354.5(SIK1):c.2058C>T (p.Ile686=) | Developmental and epileptic encephalopathy, 30 [RCV001421590] | likely benign | 21 | 43417036 | 43417036 | Human | 1 | name |
| 15190188 | CV742664 | single nucleotide variant | NM_173354.5(SIK1):c.1458G>A (p.Ala486=) | Developmental and epileptic encephalopathy, 30 [RCV000909875] | likely benign | 21 | 43419025 | 43419025 | Human | 1 | name |
| 15187537 | CV742665 | single nucleotide variant | NM_173354.5(SIK1):c.1386G>A (p.Glu462=) | Developmental and epileptic encephalopathy, 30 [RCV000909118]|not provided [RCV003432900] | likely benign | 21 | 43419097 | 43419097 | Human | 1 | name |
| 15136415 | CV742666 | single nucleotide variant | NM_173354.5(SIK1):c.1173G>A (p.Pro391=) | Developmental and epileptic encephalopathy, 30 [RCV002540171] | likely benign | 21 | 43419425 | 43419425 | Human | 1 | name |
| 15192978 | CV742667 | single nucleotide variant | NM_173354.5(SIK1):c.1068C>T (p.Pro356=) | Developmental and epileptic encephalopathy, 30 [RCV001453355]|Inborn genetic diseases [RCV002409166]|not provided [RCV003438580] | likely benign | 21 | 43419910 | 43419910 | Human | 2 | name |
| 15132407 | CV757842 | single nucleotide variant | NM_173354.5(SIK1):c.2226C>G (p.Pro742=) | Developmental and epileptic encephalopathy, 30 [RCV000920335]|not provided [RCV003438590] | likely benign | 21 | 43416868 | 43416868 | Human | 1 | name |
| 15132374 | CV757843 | single nucleotide variant | NM_173354.5(SIK1):c.1770G>A (p.Leu590=) | Developmental and epileptic encephalopathy, 30 [RCV001406006] | likely benign | 21 | 43417749 | 43417749 | Human | 1 | name |
| 15202908 | CV757844 | single nucleotide variant | NM_173354.5(SIK1):c.1722G>A (p.Ala574=) | Developmental and epileptic encephalopathy, 30 [RCV002540862] | likely benign | 21 | 43418282 | 43418282 | Human | 1 | name |
| 15122356 | CV757845 | single nucleotide variant | NM_173354.5(SIK1):c.1449A>T (p.Pro483=) | Developmental and epileptic encephalopathy, 30 [RCV001424761] | likely benign | 21 | 43419034 | 43419034 | Human | 1 | name |
| 15128218 | CV757846 | single nucleotide variant | NM_173354.5(SIK1):c.1338G>A (p.Glu446=) | Developmental and epileptic encephalopathy, 30 [RCV001401950] | likely benign | 21 | 43419145 | 43419145 | Human | 1 | name |
| 15195161 | CV757847 | single nucleotide variant | NM_173354.5(SIK1):c.1200C>T (p.Val400=) | Developmental and epileptic encephalopathy, 30 [RCV000911336] | likely benign | 21 | 43419398 | 43419398 | Human | 1 | name |
| 15122208 | CV757848 | single nucleotide variant | NM_173354.5(SIK1):c.1179G>T (p.Pro393=) | Developmental and epileptic encephalopathy, 30 [RCV001455129] | likely benign | 21 | 43419419 | 43419419 | Human | 1 | name |
| 15182951 | CV773365 | single nucleotide variant | NM_173354.5(SIK1):c.1620G>A (p.Ser540=) | Developmental and epileptic encephalopathy, 30 [RCV000930480] | likely benign | 21 | 43418384 | 43418384 | Human | 1 | name |
| 15137148 | CV786504 | single nucleotide variant | NM_173354.5(SIK1):c.1830C>T (p.Arg610=) | Developmental and epileptic encephalopathy, 30 [RCV000982238] | likely benign | 21 | 43417689 | 43417689 | Human | 1 | name |
| 15108970 | CV786505 | single nucleotide variant | NM_173354.5(SIK1):c.1734A>C (p.Ser578=) | Developmental and epileptic encephalopathy, 30 [RCV001464068] | likely benign | 21 | 43418270 | 43418270 | Human | 1 | name |
| 15114509 | CV786506 | single nucleotide variant | NM_173354.5(SIK1):c.1554G>A (p.Ala518=) | Developmental and epileptic encephalopathy, 30 [RCV001483873]|not specified [RCV005056708] | likely benign | 21 | 43418450 | 43418450 | Human | 1 | name |
| 15101086 | CV786507 | single nucleotide variant | NM_173354.5(SIK1):c.1422G>A (p.Leu474=) | Developmental and epileptic encephalopathy, 30 [RCV001460930] | likely benign | 21 | 43419061 | 43419061 | Human | 1 | name |
| 15106340 | CV786508 | single nucleotide variant | NM_173354.5(SIK1):c.1356G>A (p.Pro452=) | Developmental and epileptic encephalopathy, 30 [RCV002548408]|Inborn genetic diseases [RCV002382202] | likely benign | 21 | 43419127 | 43419127 | Human | 2 | name |
| 26901010 | CV848852 | single nucleotide variant | NM_173354.5(SIK1):c.118G>A (p.Val40Met) | Developmental and epileptic encephalopathy, 30 [RCV001035511] | uncertain significance | 21 | 43426061 | 43426061 | Human | 1 | name |
| 38489594 | CV929343 | single nucleotide variant | NM_173354.5(SIK1):c.134G>A (p.Arg45Gln) | Developmental and epileptic encephalopathy, 30 [RCV001221771] | uncertain significance | 21 | 43426045 | 43426045 | Human | 1 | name |
| 38496655 | CV951243 | single nucleotide variant | NM_173354.5(SIK1):c.2172G>A (p.Ala724=) | Developmental and epileptic encephalopathy, 30 [RCV001226535] | likely benign|uncertain significance | 21 | 43416922 | 43416922 | Human | 1 | name |
| 126765992 | CV1014369 | single nucleotide variant | NM_173354.5(SIK1):c.779T>C (p.Val260Ala) | Developmental and epileptic encephalopathy, 30 [RCV001320262] | uncertain significance | 21 | 43420427 | 43420427 | Human | 1 | name |
| 126749594 | CV1014370 | single nucleotide variant | NM_173354.5(SIK1):c.769C>T (p.Arg257Cys) | Developmental and epileptic encephalopathy, 30 [RCV001326566]|Inborn genetic diseases [RCV005278825] | uncertain significance | 21 | 43420437 | 43420437 | Human | 2 | name |
| 126734810 | CV1014371 | single nucleotide variant | NM_173354.5(SIK1):c.339T>G (p.Asp113Glu) | Developmental and epileptic encephalopathy, 30 [RCV001313626] | uncertain significance | 21 | 43421798 | 43421798 | Human | 1 | name |
| 126772060 | CV1034936 | single nucleotide variant | NM_173354.5(SIK1):c.938A>G (p.Gln313Arg) | Developmental and epileptic encephalopathy, 30 [RCV001345399]|not provided [RCV002292632] | likely benign|uncertain significance | 21 | 43420268 | 43420268 | Human | 1 | name |
| 126767565 | CV1034937 | single nucleotide variant | NM_173354.5(SIK1):c.800T>C (p.Ile267Thr) | Developmental and epileptic encephalopathy, 30 [RCV001342871] | uncertain significance | 21 | 43420406 | 43420406 | Human | 1 | name |
| 126766264 | CV1034938 | single nucleotide variant | NM_173354.5(SIK1):c.368A>T (p.Glu123Val) | Developmental and epileptic encephalopathy, 30 [RCV001342355] | uncertain significance | 21 | 43421769 | 43421769 | Human | 1 | name |
| 126910304 | CV1038792 | single nucleotide variant | NM_173354.5(SIK1):c.803C>A (p.Thr268Asn) | Developmental and epileptic encephalopathy, 30 [RCV002547589]|not provided [RCV001354508] | uncertain significance | 21 | 43420403 | 43420403 | Human | 1 | name |
| 127292660 | CV1159004 | single nucleotide variant | NM_173354.5(SIK1):c.939G>T (p.Gln313His) | Developmental and epileptic encephalopathy, 30 [RCV001510918] | benign | 21 | 43420267 | 43420267 | Human | 1 | name |
| 150529192 | CV1288745 | single nucleotide variant | NM_173354.5(SIK1):c.332T>C (p.Met111Thr) | not provided [RCV001727213] | uncertain significance | 21 | 43421979 | 43421979 | Human | | name |
| 150551390 | CV1292683 | single nucleotide variant | NM_173354.5(SIK1):c.536C>G (p.Pro179Arg) | Inborn genetic diseases [RCV002343810]|not provided [RCV001754291] | uncertain significance | 21 | 43421331 | 43421331 | Human | 1 | name |
| 150549534 | CV1299508 | single nucleotide variant | NM_173354.5(SIK1):c.698G>A (p.Arg233Lys) | Developmental and epileptic encephalopathy, 30 [RCV001868512]|not provided [RCV001752434] | uncertain significance | 21 | 43421060 | 43421060 | Human | 1 | name |
| 151350830 | CV1324847 | single nucleotide variant | NM_173354.5(SIK1):c.443G>C (p.Arg148Pro) | Developmental and epileptic encephalopathy, 30 [RCV001809292] | uncertain significance | 21 | 43421694 | 43421694 | Human | 1 | name |
| 151741789 | CV1335533 | deletion | NM_173354.5(SIK1):c.1794del (p.Leu600fs) | Epileptic encephalopathy [RCV001845061] | likely benign | 21 | 43417725 | 43417725 | Human | 2 | name |
| 151844152 | CV1339434 | single nucleotide variant | NM_173354.5(SIK1):c.620T>C (p.Ile207Thr) | Developmental and epileptic encephalopathy, 30 [RCV001978064] | uncertain significance | 21 | 43421247 | 43421247 | Human | 1 | name |
| 151778004 | CV1342780 | single nucleotide variant | NM_173354.5(SIK1):c.871G>C (p.Ala291Pro) | Developmental and epileptic encephalopathy, 30 [RCV001988868] | uncertain significance | 21 | 43420335 | 43420335 | Human | 1 | name |
| 151823340 | CV1352200 | single nucleotide variant | NM_173354.5(SIK1):c.371A>G (p.Asn124Ser) | Developmental and epileptic encephalopathy, 30 [RCV002013609] | uncertain significance | 21 | 43421766 | 43421766 | Human | 1 | name |
| 151860204 | CV1374027 | single nucleotide variant | NM_173354.5(SIK1):c.796C>T (p.Arg266Cys) | Developmental and epileptic encephalopathy, 30 [RCV001938444] | uncertain significance | 21 | 43420410 | 43420410 | Human | 1 | name |
| 151709509 | CV1375906 | single nucleotide variant | NM_173354.5(SIK1):c.700C>T (p.Gln234Ter) | Developmental and epileptic encephalopathy, 30 [RCV001964002] | uncertain significance | 21 | 43421058 | 43421058 | Human | 1 | name |
| 151871505 | CV1384284 | single nucleotide variant | NM_173354.5(SIK1):c.818G>A (p.Arg273Gln) | Developmental and epileptic encephalopathy, 30 [RCV001960488] | uncertain significance | 21 | 43420388 | 43420388 | Human | 1 | name |
| 151826972 | CV1396278 | single nucleotide variant | NM_173354.5(SIK1):c.835C>G (p.Arg279Gly) | Developmental and epileptic encephalopathy, 30 [RCV001934674]|Inborn genetic diseases [RCV002548071] | likely benign|uncertain significance | 21 | 43420371 | 43420371 | Human | 2 | name |
| 151744631 | CV1401608 | single nucleotide variant | NM_173354.5(SIK1):c.710T>C (p.Leu237Pro) | Developmental and epileptic encephalopathy, 30 [RCV001947456]|Inborn genetic diseases [RCV004040410] | uncertain significance | 21 | 43421048 | 43421048 | Human | 2 | name |
| 151800285 | CV1403974 | single nucleotide variant | NM_173354.5(SIK1):c.691A>G (p.Thr231Ala) | Developmental and epileptic encephalopathy, 30 [RCV001973844]|Inborn genetic diseases [RCV002573421] | likely benign|uncertain significance | 21 | 43421067 | 43421067 | Human | 2 | name |
| 151877958 | CV1415919 | single nucleotide variant | NM_173354.5(SIK1):c.913G>C (p.Asp305His) | Developmental and epileptic encephalopathy, 30 [RCV001926063] | uncertain significance | 21 | 43420293 | 43420293 | Human | 1 | name |
| 151729885 | CV1416684 | single nucleotide variant | NM_173354.5(SIK1):c.372C>A (p.Asn124Lys) | Developmental and epileptic encephalopathy, 30 [RCV002004658] | uncertain significance | 21 | 43421765 | 43421765 | Human | 1 | name |
| 151842922 | CV1418360 | single nucleotide variant | NM_173354.5(SIK1):c.817C>T (p.Arg273Trp) | Developmental and epileptic encephalopathy, 30 [RCV001903069] | uncertain significance | 21 | 43420389 | 43420389 | Human | 1 | name |
| 151816785 | CV1427295 | single nucleotide variant | NM_173354.5(SIK1):c.593A>G (p.Lys198Arg) | Developmental and epileptic encephalopathy, 30 [RCV001878819] | uncertain significance | 21 | 43421274 | 43421274 | Human | 1 | name |
| 151795915 | CV1437716 | single nucleotide variant | NM_173354.5(SIK1):c.860C>T (p.Pro287Leu) | Developmental and epileptic encephalopathy, 30 [RCV001876935] | uncertain significance | 21 | 43420346 | 43420346 | Human | 1 | name |
| 151882267 | CV1443163 | single nucleotide variant | NM_173354.5(SIK1):c.386A>C (p.Lys129Thr) | Developmental and epileptic encephalopathy, 30 [RCV002037105]|Inborn genetic diseases [RCV002543445] | uncertain significance | 21 | 43421751 | 43421751 | Human | 2 | name |
| 151774702 | CV1450244 | single nucleotide variant | NM_173354.5(SIK1):c.521A>T (p.Tyr174Phe) | Developmental and epileptic encephalopathy, 30 [RCV001915318] | uncertain significance | 21 | 43421346 | 43421346 | Human | 1 | name |
| 151768658 | CV1486315 | single nucleotide variant | NM_173354.5(SIK1):c.914A>G (p.Asp305Gly) | Developmental and epileptic encephalopathy, 30 [RCV001914768] | uncertain significance | 21 | 43420292 | 43420292 | Human | 1 | name |
| 151813139 | CV1498338 | single nucleotide variant | NM_173354.5(SIK1):c.369G>C (p.Glu123Asp) | Developmental and epileptic encephalopathy, 30 [RCV001954025] | uncertain significance | 21 | 43421768 | 43421768 | Human | 1 | name |
| 151790465 | CV1512940 | single nucleotide variant | NM_173354.5(SIK1):c.910T>C (p.Tyr304His) | Developmental and epileptic encephalopathy, 30 [RCV001876466] | uncertain significance | 21 | 43420296 | 43420296 | Human | 1 | name |
| 151812478 | CV1516014 | single nucleotide variant | NM_173354.5(SIK1):c.854C>A (p.Pro285Gln) | Developmental and epileptic encephalopathy, 30 [RCV002012578] | uncertain significance | 21 | 43420352 | 43420352 | Human | 1 | name |
| 152137465 | CV1563399 | single nucleotide variant | NM_173354.5(SIK1):c.880G>A (p.Ala294Thr) | Developmental and epileptic encephalopathy, 30 [RCV002200137]|Inborn genetic diseases [RCV004045570]|not provided [RCV004598179] | likely benign | 21 | 43420326 | 43420326 | Human | 2 | name |
| 155670825 | CV1771040 | single nucleotide variant | NM_173354.5(SIK1):c.901C>G (p.Leu301Val) | Developmental and epileptic encephalopathy, 30 [RCV002297346] | uncertain significance | 21 | 43420305 | 43420305 | Human | 1 | name |
| 155716773 | CV1774220 | single nucleotide variant | NM_173354.5(SIK1):c.353A>T (p.Asn118Ile) | Developmental and epileptic encephalopathy, 30 [RCV002296485] | uncertain significance | 21 | 43421784 | 43421784 | Human | 1 | name |
| 155718030 | CV1775493 | single nucleotide variant | NM_173354.5(SIK1):c.376G>T (p.Ala126Ser) | Developmental and epileptic encephalopathy, 30 [RCV002301161] | uncertain significance | 21 | 43421761 | 43421761 | Human | 1 | name |
| 155709732 | CV1775758 | single nucleotide variant | NM_173354.5(SIK1):c.326G>T (p.Gly109Val) | Developmental and epileptic encephalopathy, 30 [RCV002296143] | uncertain significance | 21 | 43421985 | 43421985 | Human | 1 | name |
| 155701154 | CV1776158 | single nucleotide variant | NM_173354.5(SIK1):c.753T>G (p.Cys251Trp) | Developmental and epileptic encephalopathy, 30 [RCV002299979] | uncertain significance | 21 | 43420453 | 43420453 | Human | 1 | name |
| 155730688 | CV1814204 | single nucleotide variant | NM_173354.5(SIK1):c.836G>A (p.Arg279Gln) | Developmental and epileptic encephalopathy, 30 [RCV003588827]|Inborn genetic diseases [RCV002434771] | likely benign|uncertain significance | 21 | 43420370 | 43420370 | Human | 2 | name |
| 155713247 | CV1830014 | deletion | NM_173354.5(SIK1):c.1479del (p.Ser494fs) | Inborn genetic diseases [RCV002397082] | uncertain significance | 21 | 43418525 | 43418525 | Human | 1 | name |
| 155795552 | CV1861368 | single nucleotide variant | NM_173354.5(SIK1):c.934A>C (p.Met312Leu) | not provided [RCV002469650] | uncertain significance | 21 | 43420272 | 43420272 | Human | | name |
| 10044741 | CV187940 | single nucleotide variant | NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) | Developmental and epileptic encephalopathy, 30 [RCV000170344] | pathogenic | 21 | 43420347 | 43420347 | Human | 1 | name |
| 156405219 | CV1912996 | single nucleotide variant | NM_173354.5(SIK1):c.692C>T (p.Thr231Met) | Developmental and epileptic encephalopathy, 30 [RCV002606279]|Inborn genetic diseases [RCV004068946] | likely benign|uncertain significance | 21 | 43421066 | 43421066 | Human | 2 | name |
| 156360965 | CV2016650 | single nucleotide variant | NM_173354.5(SIK1):c.521A>G (p.Tyr174Cys) | Developmental and epileptic encephalopathy, 30 [RCV002720857] | uncertain significance | 21 | 43421346 | 43421346 | Human | 1 | name |
| 156299243 | CV2017226 | single nucleotide variant | NM_173354.5(SIK1):c.833T>C (p.Met278Thr) | Developmental and epileptic encephalopathy, 30 [RCV002715984]|Inborn genetic diseases [RCV004067708] | uncertain significance | 21 | 43420373 | 43420373 | Human | 2 | name |
| 155963334 | CV2034052 | single nucleotide variant | NM_173354.5(SIK1):c.967G>A (p.Val323Met) | Developmental and epileptic encephalopathy, 30 [RCV002731280] | uncertain significance | 21 | 43420239 | 43420239 | Human | 1 | name |
| 156335471 | CV2057744 | single nucleotide variant | NM_173354.5(SIK1):c.908A>T (p.Asp303Val) | Developmental and epileptic encephalopathy, 30 [RCV002810915] | uncertain significance | 21 | 43420298 | 43420298 | Human | 1 | name |
| 155949474 | CV2058628 | deletion | NM_173354.5(SIK1):c.1455del (p.Ala486fs) | Developmental and epileptic encephalopathy, 30 [RCV002816183] | uncertain significance | 21 | 43419028 | 43419028 | Human | 1 | name |
| 156281666 | CV2161010 | single nucleotide variant | NM_173354.5(SIK1):c.445G>A (p.Asp149Asn) | Developmental and epileptic encephalopathy, 30 [RCV003027338] | uncertain significance | 21 | 43421692 | 43421692 | Human | 1 | name |
| 156070333 | CV2295806 | single nucleotide variant | NM_173354.5(SIK1):c.718C>T (p.Arg240Cys) | Inborn genetic diseases [RCV002868671] | uncertain significance | 21 | 43421040 | 43421040 | Human | 1 | name |
| 156440064 | CV2401748 | single nucleotide variant | NM_173354.5(SIK1):c.788C>T (p.Pro263Leu) | not provided [RCV003110036] | uncertain significance | 21 | 43420418 | 43420418 | Human | | name |
| 401868439 | CV2767235 | single nucleotide variant | NM_173354.5(SIK1):c.673G>A (p.Asp225Asn) | Developmental and epileptic encephalopathy, 30 [RCV003777532]|Inborn genetic diseases [RCV003345427] | uncertain significance | 21 | 43421085 | 43421085 | Human | 2 | name |
| 401930622 | CV2824806 | single nucleotide variant | NM_173354.5(SIK1):c.580G>C (p.Val194Leu) | not provided [RCV003440596] | uncertain significance | 21 | 43421287 | 43421287 | Human | | name |
| 401920273 | CV2824807 | single nucleotide variant | NM_173354.5(SIK1):c.428A>G (p.His143Arg) | not provided [RCV003431524] | uncertain significance | 21 | 43421709 | 43421709 | Human | | name |
| 401945587 | CV2839760 | single nucleotide variant | NM_173354.5(SIK1):c.742T>C (p.Ser248Pro) | Developmental and epileptic encephalopathy, 30 [RCV003458290] | uncertain significance | 21 | 43421016 | 43421016 | Human | 1 | name |
| 405188244 | CV2865289 | single nucleotide variant | NM_173354.5(SIK1):c.558C>A (p.Ser186Arg) | Developmental and epileptic encephalopathy, 30 [RCV003589634] | uncertain significance | 21 | 43421309 | 43421309 | Human | 1 | name |
| 405191930 | CV2871383 | single nucleotide variant | NM_173354.5(SIK1):c.562C>T (p.Pro188Ser) | Developmental and epileptic encephalopathy, 30 [RCV003589976] | uncertain significance | 21 | 43421305 | 43421305 | Human | 1 | name |
| 405190627 | CV2874309 | single nucleotide variant | NM_173354.5(SIK1):c.674A>G (p.Asp225Gly) | Developmental and epileptic encephalopathy, 30 [RCV003589905] | uncertain significance | 21 | 43421084 | 43421084 | Human | 1 | name |
| 405197754 | CV2884060 | single nucleotide variant | NM_173354.5(SIK1):c.634G>A (p.Val212Met) | Developmental and epileptic encephalopathy, 30 [RCV003590797] | uncertain significance | 21 | 43421124 | 43421124 | Human | 1 | name |
| 405183355 | CV2902114 | single nucleotide variant | NM_173354.5(SIK1):c.871G>T (p.Ala291Ser) | Developmental and epileptic encephalopathy, 30 [RCV003589035] | uncertain significance | 21 | 43420335 | 43420335 | Human | 1 | name |
| 405192989 | CV2914972 | single nucleotide variant | NM_173354.5(SIK1):c.758G>A (p.Ser253Asn) | Developmental and epileptic encephalopathy, 30 [RCV003590177] | uncertain significance | 21 | 43420448 | 43420448 | Human | 1 | name |
| 405187061 | CV2915966 | single nucleotide variant | NM_173354.5(SIK1):c.845C>A (p.Pro282His) | Developmental and epileptic encephalopathy, 30 [RCV003589501] | uncertain significance | 21 | 43420361 | 43420361 | Human | 1 | name |
| 405199066 | CV2926978 | single nucleotide variant | NM_173354.5(SIK1):c.462C>A (p.Asn154Lys) | Developmental and epileptic encephalopathy, 30 [RCV003590987] | uncertain significance | 21 | 43421675 | 43421675 | Human | 1 | name |
| 405112355 | CV2964944 | single nucleotide variant | NM_173354.5(SIK1):c.866G>C (p.Cys289Ser) | Developmental and epileptic encephalopathy, 30 [RCV003751711] | uncertain significance | 21 | 43420340 | 43420340 | Human | 1 | name |
| 405112814 | CV2966236 | single nucleotide variant | NM_173354.5(SIK1):c.647T>C (p.Val216Ala) | Developmental and epileptic encephalopathy, 30 [RCV003751798] | uncertain significance | 21 | 43421111 | 43421111 | Human | 1 | name |
| 405112286 | CV2969297 | single nucleotide variant | NM_173354.5(SIK1):c.524A>C (p.Lys175Thr) | Developmental and epileptic encephalopathy, 30 [RCV003751769] | uncertain significance | 21 | 43421343 | 43421343 | Human | 1 | name |
| 405115382 | CV3015919 | single nucleotide variant | NM_173354.5(SIK1):c.692C>A (p.Thr231Lys) | Developmental and epileptic encephalopathy, 30 [RCV003752289] | uncertain significance | 21 | 43421066 | 43421066 | Human | 1 | name |
| 405106444 | CV3050977 | single nucleotide variant | NM_173354.5(SIK1):c.767G>A (p.Arg256His) | Developmental and epileptic encephalopathy, 30 [RCV003750515] | uncertain significance | 21 | 43420439 | 43420439 | Human | 1 | name |
| 405139816 | CV3125765 | single nucleotide variant | NM_173354.5(SIK1):c.857G>C (p.Gly286Ala) | Developmental and epileptic encephalopathy, 30 [RCV003816680] | uncertain significance | 21 | 43420349 | 43420349 | Human | 1 | name |
| 405193917 | CV3167523 | single nucleotide variant | NM_173354.5(SIK1):c.392G>C (p.Trp131Ser) | Developmental and epileptic encephalopathy, 30 [RCV003859929] | uncertain significance | 21 | 43421745 | 43421745 | Human | 1 | name |
| 405269791 | CV3187489 | single nucleotide variant | NM_173354.5(SIK1):c.572C>T (p.Ala191Val) | not provided [RCV003887573] | uncertain significance | 21 | 43421295 | 43421295 | Human | | name |
| 405705354 | CV3224788 | deletion | NM_173354.5(SIK1):c.1373del (p.Gln458fs) | Developmental and epileptic encephalopathy, 30 [RCV003990168] | likely pathogenic | 21 | 43419110 | 43419110 | Human | 1 | name |
| 407425277 | CV3411089 | single nucleotide variant | NM_173354.5(SIK1):c.512G>A (p.Gly171Glu) | not provided [RCV004588779] | uncertain significance | 21 | 43421355 | 43421355 | Human | | name |
| 407501789 | CV3480736 | single nucleotide variant | NM_173354.5(SIK1):c.811C>G (p.Gln271Glu) | Inborn genetic diseases [RCV004669835] | uncertain significance | 21 | 43420395 | 43420395 | Human | 1 | name |
| 597639335 | CV3599226 | single nucleotide variant | NM_173354.5(SIK1):c.482T>C (p.Met161Thr) | Inborn genetic diseases [RCV004971181] | uncertain significance | 21 | 43421655 | 43421655 | Human | 1 | name |
| 597709071 | CV3599228 | single nucleotide variant | NM_173354.5(SIK1):c.646G>T (p.Val216Phe) | Inborn genetic diseases [RCV004957781] | uncertain significance | 21 | 43421112 | 43421112 | Human | 1 | name |
| 597932563 | CV3742647 | single nucleotide variant | NM_173354.5(SIK1):c.658G>A (p.Gly220Ser) | Developmental and epileptic encephalopathy, 30 [RCV005076086] | uncertain significance | 21 | 43421100 | 43421100 | Human | 1 | name |
| 597970395 | CV3750238 | single nucleotide variant | NM_173354.5(SIK1):c.534G>T (p.Glu178Asp) | Developmental and epileptic encephalopathy, 30 [RCV005084179] | uncertain significance | 21 | 43421333 | 43421333 | Human | 1 | name |
| 597868388 | CV3764463 | single nucleotide variant | NM_173354.5(SIK1):c.739A>G (p.Met247Val) | Developmental and epileptic encephalopathy, 30 [RCV005107263] | uncertain significance | 21 | 43421019 | 43421019 | Human | 1 | name |
| 597964492 | CV3792474 | single nucleotide variant | NM_173354.5(SIK1):c.766C>T (p.Arg256Cys) | Developmental and epileptic encephalopathy, 30 [RCV005139841] | uncertain significance | 21 | 43420440 | 43420440 | Human | 1 | name |
| 597893462 | CV3809922 | single nucleotide variant | NM_173354.5(SIK1):c.890A>G (p.Tyr297Cys) | Developmental and epileptic encephalopathy, 30 [RCV005151643] | uncertain significance | 21 | 43420316 | 43420316 | Human | 1 | name |
| 597943097 | CV3816387 | single nucleotide variant | NM_173354.5(SIK1):c.689C>T (p.Pro230Leu) | Developmental and epileptic encephalopathy, 30 [RCV005159448] | uncertain significance | 21 | 43421069 | 43421069 | Human | 1 | name |
| 597914367 | CV3851098 | single nucleotide variant | NM_173354.5(SIK1):c.793A>G (p.Arg265Gly) | Developmental and epileptic encephalopathy, 30 [RCV005204066] | uncertain significance | 21 | 43420413 | 43420413 | Human | 1 | name |
| 598177636 | CV4008324 | single nucleotide variant | NM_173354.5(SIK1):c.886A>G (p.Ser296Gly) | Developmental and epileptic encephalopathy, 30 [RCV005393842] | uncertain significance | 21 | 43420320 | 43420320 | Human | 1 | name |
| 617152790 | CV4018405 | single nucleotide variant | NM_173354.5(SIK1):c.853C>A (p.Pro285Thr) | not specified [RCV005418665] | uncertain significance | 21 | 43420353 | 43420353 | Human | | name |
| 13500789 | CV470741 | single nucleotide variant | NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) | Developmental and epileptic encephalopathy, 30 [RCV000538396]|Inborn genetic diseases [RCV002448792] | benign|uncertain significance | 21 | 43420299 | 43420299 | Human | 2 | name |
| 13464416 | CV471238 | single nucleotide variant | NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) | Developmental and epileptic encephalopathy, 30 [RCV000542041]|Inborn genetic diseases [RCV002311890]|not provided [RCV003311849] | benign|likely benign | 21 | 43420416 | 43420416 | Human | 2 | name |
| 13625224 | CV533926 | single nucleotide variant | NM_173354.5(SIK1):c.862G>T (p.Ala288Ser) | Developmental and epileptic encephalopathy, 30 [RCV000653182]|Inborn genetic diseases [RCV004957967] | likely benign|uncertain significance | 21 | 43420344 | 43420344 | Human | 2 | name |
| 13625233 | CV533932 | single nucleotide variant | NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) | Developmental and epileptic encephalopathy, 30 [RCV000653191]|not specified [RCV005418273] | uncertain significance | 21 | 43421772 | 43421772 | Human | 1 | name |
| 13625223 | CV533937 | single nucleotide variant | NM_173354.5(SIK1):c.881C>T (p.Ala294Val) | Developmental and epileptic encephalopathy, 30 [RCV000653181]|Inborn genetic diseases [RCV002311989]|not provided [RCV001287961] | benign|likely benign|uncertain significance | 21 | 43420325 | 43420325 | Human | 2 | name |
| 13625225 | CV533938 | single nucleotide variant | NM_173354.5(SIK1):c.709C>G (p.Leu237Val) | Developmental and epileptic encephalopathy, 30 [RCV000653183] | uncertain significance | 21 | 43421049 | 43421049 | Human | 1 | name |
| 13828936 | CV580601 | single nucleotide variant | NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr) | Developmental and epileptic encephalopathy, 30 [RCV001476836]|Inborn genetic diseases [RCV002316173]|not provided [RCV003437408] | benign|likely benign | 21 | 43420331 | 43420331 | Human | 2 | name |
| 14709250 | CV650503 | single nucleotide variant | NM_173354.5(SIK1):c.380G>A (p.Arg127Gln) | Developmental and epileptic encephalopathy, 30 [RCV000811438] | uncertain significance | 21 | 43421757 | 43421757 | Human | 1 | name |
| 14703782 | CV650504 | single nucleotide variant | NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) | Developmental and epileptic encephalopathy, 30 [RCV000795133]|Inborn genetic diseases [RCV002325510] | uncertain significance | 21 | 43421733 | 43421733 | Human | 2 | name |
| 14705177 | CV650505 | single nucleotide variant | NM_173354.5(SIK1):c.409G>A (p.Val137Met) | Developmental and epileptic encephalopathy, 30 [RCV000800063] | uncertain significance | 21 | 43421728 | 43421728 | Human | 1 | name |
| 14707565 | CV650506 | single nucleotide variant | NM_173354.5(SIK1):c.436G>A (p.Val146Ile) | Developmental and epileptic encephalopathy, 30 [RCV000807486] | uncertain significance | 21 | 43421701 | 43421701 | Human | 1 | name |
| 14705720 | CV650507 | single nucleotide variant | NM_173354.5(SIK1):c.599A>G (p.Tyr200Cys) | Developmental and epileptic encephalopathy, 30 [RCV000801772] | uncertain significance | 21 | 43421268 | 43421268 | Human | 1 | name |
| 14703697 | CV650508 | single nucleotide variant | NM_173354.5(SIK1):c.748G>A (p.Asp250Asn) | Developmental and epileptic encephalopathy, 30 [RCV000794848] | uncertain significance | 21 | 43421010 | 43421010 | Human | 1 | name |
| 14703322 | CV650509 | single nucleotide variant | NM_173354.5(SIK1):c.808G>A (p.Ala270Thr) | Developmental and epileptic encephalopathy, 30 [RCV000793213] | likely benign|uncertain significance | 21 | 43420398 | 43420398 | Human | 1 | name |
| 15155474 | CV717231 | single nucleotide variant | NM_173354.5(SIK1):c.871G>A (p.Ala291Thr) | Developmental and epileptic encephalopathy, 30 [RCV000968931]|Inborn genetic diseases [RCV002372671] | benign|likely benign | 21 | 43420335 | 43420335 | Human | 2 | name |
| 26897954 | CV822200 | single nucleotide variant | NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) | Developmental and epileptic encephalopathy, 30 [RCV001034369]|not provided [RCV003432993] | benign|likely benign | 21 | 43420352 | 43420352 | Human | 1 | name |
| 26897637 | CV822201 | single nucleotide variant | NM_173354.5(SIK1):c.750C>G (p.Asp250Glu) | Developmental and epileptic encephalopathy, 30 [RCV001034247] | likely benign | 21 | 43420456 | 43420456 | Human | 1 | name |
| 26897182 | CV822202 | single nucleotide variant | NM_173354.5(SIK1):c.424G>C (p.Asp142His) | Developmental and epileptic encephalopathy, 30 [RCV001034027] | likely benign | 21 | 43421713 | 43421713 | Human | 1 | name |
| 26897084 | CV822203 | single nucleotide variant | NM_173354.5(SIK1):c.379C>T (p.Arg127Trp) | Developmental and epileptic encephalopathy, 30 [RCV001033982] | likely benign | 21 | 43421758 | 43421758 | Human | 1 | name |
| 26898034 | CV822204 | single nucleotide variant | NM_173354.5(SIK1):c.377C>T (p.Ala126Val) | Developmental and epileptic encephalopathy, 30 [RCV001034390] | likely benign | 21 | 43421760 | 43421760 | Human | 1 | name |
| 26921305 | CV848842 | single nucleotide variant | NM_173354.5(SIK1):c.955C>T (p.Arg319Trp) | Developmental and epileptic encephalopathy, 30 [RCV001060866] | uncertain significance | 21 | 43420251 | 43420251 | Human | 1 | name |
| 26906611 | CV848843 | single nucleotide variant | NM_173354.5(SIK1):c.923C>T (p.Ala308Val) | Developmental and epileptic encephalopathy, 30 [RCV001051821] | uncertain significance | 21 | 43420283 | 43420283 | Human | 1 | name |
| 26921924 | CV848844 | single nucleotide variant | NM_173354.5(SIK1):c.913G>A (p.Asp305Asn) | Developmental and epileptic encephalopathy, 30 [RCV001061431] | uncertain significance | 21 | 43420293 | 43420293 | Human | 1 | name |
| 26912874 | CV848845 | single nucleotide variant | NM_173354.5(SIK1):c.805A>G (p.Ile269Val) | Developmental and epileptic encephalopathy, 30 [RCV001039683] | uncertain significance | 21 | 43420401 | 43420401 | Human | 1 | name |
| 26897468 | CV848846 | single nucleotide variant | NM_173354.5(SIK1):c.770G>A (p.Arg257His) | Developmental and epileptic encephalopathy, 30 [RCV001070315] | uncertain significance | 21 | 43420436 | 43420436 | Human | 1 | name |
| 26920571 | CV848847 | single nucleotide variant | NM_173354.5(SIK1):c.580G>A (p.Val194Ile) | Developmental and epileptic encephalopathy, 30 [RCV001060113] | uncertain significance | 21 | 43421287 | 43421287 | Human | 1 | name |
| 26919916 | CV848848 | single nucleotide variant | NM_173354.5(SIK1):c.563C>G (p.Pro188Arg) | Developmental and epileptic encephalopathy, 30 [RCV001059468]|Inborn genetic diseases [RCV002554420] | uncertain significance | 21 | 43421304 | 43421304 | Human | 2 | name |
| 26885548 | CV848849 | single nucleotide variant | NM_173354.5(SIK1):c.549G>T (p.Trp183Cys) | Developmental and epileptic encephalopathy, 30 [RCV001065515] | uncertain significance | 21 | 43421318 | 43421318 | Human | 1 | name |
| 26903031 | CV848850 | single nucleotide variant | NM_173354.5(SIK1):c.424G>A (p.Asp142Asn) | Developmental and epileptic encephalopathy, 30 [RCV001072040] | uncertain significance | 21 | 43421713 | 43421713 | Human | 1 | name |
| 26904100 | CV848851 | single nucleotide variant | NM_173354.5(SIK1):c.301A>G (p.Ile101Val) | Developmental and epileptic encephalopathy, 30 [RCV001050656]|Inborn genetic diseases [RCV002436600] | uncertain significance | 21 | 43422010 | 43422010 | Human | 2 | name |
| 38490517 | CV929342 | single nucleotide variant | NM_173354.5(SIK1):c.862G>A (p.Ala288Thr) | Developmental and epileptic encephalopathy, 30 [RCV001222196] | uncertain significance | 21 | 43420344 | 43420344 | Human | 1 | name |
| 38479280 | CV939133 | single nucleotide variant | NM_173354.5(SIK1):c.826C>T (p.Arg276Trp) | Developmental and epileptic encephalopathy, 30 [RCV001205910] | uncertain significance | 21 | 43420380 | 43420380 | Human | 1 | name |
| 38468330 | CV939134 | single nucleotide variant | NM_173354.5(SIK1):c.673G>C (p.Asp225His) | Developmental and epileptic encephalopathy, 30 [RCV001202187] | uncertain significance | 21 | 43421085 | 43421085 | Human | 1 | name |
| 38456742 | CV939135 | single nucleotide variant | NM_173354.5(SIK1):c.331A>G (p.Met111Val) | Developmental and epileptic encephalopathy, 30 [RCV001210917]|Inborn genetic diseases [RCV002562368] | uncertain significance | 21 | 43421980 | 43421980 | Human | 2 | name |
| 38490484 | CV951251 | single nucleotide variant | NM_173354.5(SIK1):c.953A>C (p.Asp318Ala) | Developmental and epileptic encephalopathy, 30 [RCV001238855] | uncertain significance | 21 | 43420253 | 43420253 | Human | 1 | name |
| 38478289 | CV951252 | single nucleotide variant | NM_173354.5(SIK1):c.849C>G (p.Cys283Trp) | Developmental and epileptic encephalopathy, 30 [RCV001233855] | uncertain significance | 21 | 43420357 | 43420357 | Human | 1 | name |
| 38479948 | CV951253 | single nucleotide variant | NM_173354.5(SIK1):c.688C>A (p.Pro230Thr) | Developmental and epileptic encephalopathy, 30 [RCV001234531]|not specified [RCV003994241] | uncertain significance | 21 | 43421070 | 43421070 | Human | 1 | name |
| 126756406 | CV999230 | single nucleotide variant | NM_173354.5(SIK1):c.956G>A (p.Arg319Gln) | Developmental and epileptic encephalopathy, 30 [RCV001308103] | uncertain significance | 21 | 43420250 | 43420250 | Human | 1 | name |
| 126755358 | CV999231 | single nucleotide variant | NM_173354.5(SIK1):c.949G>A (p.Val317Met) | Developmental and epileptic encephalopathy, 30 [RCV001298332] | uncertain significance | 21 | 43420257 | 43420257 | Human | 1 | name |
| 126741730 | CV999232 | single nucleotide variant | NM_173354.5(SIK1):c.817C>G (p.Arg273Gly) | Developmental and epileptic encephalopathy, 30 [RCV001295943] | uncertain significance | 21 | 43420389 | 43420389 | Human | 1 | name |
| 126764171 | CV999233 | single nucleotide variant | NM_173354.5(SIK1):c.646G>A (p.Val216Ile) | Developmental and epileptic encephalopathy, 30 [RCV001300989] | uncertain significance | 21 | 43421112 | 43421112 | Human | 1 | name |
| 126755088 | CV1014360 | single nucleotide variant | NM_173354.5(SIK1):c.1904C>G (p.Pro635Arg) | Developmental and epileptic encephalopathy, 30 [RCV001316860]|Inborn genetic diseases [RCV002412018] | likely benign|uncertain significance | 21 | 43417615 | 43417615 | Human | 2 | name |
| 126746768 | CV1014361 | single nucleotide variant | NM_173354.5(SIK1):c.1691T>C (p.Leu564Pro) | Developmental and epileptic encephalopathy, 30 [RCV001326055]|Inborn genetic diseases [RCV004960777] | likely benign|uncertain significance | 21 | 43418313 | 43418313 | Human | 2 | name |
| 126753615 | CV1014362 | single nucleotide variant | NM_173354.5(SIK1):c.1667G>A (p.Gly556Glu) | Developmental and epileptic encephalopathy, 30 [RCV001327319] | uncertain significance | 21 | 43418337 | 43418337 | Human | 1 | name |
| 126760318 | CV1014366 | single nucleotide variant | NM_173354.5(SIK1):c.1135C>A (p.Leu379Ile) | Developmental and epileptic encephalopathy, 30 [RCV001318304] | uncertain significance | 21 | 43419463 | 43419463 | Human | 1 | name |
| 126747165 | CV1014367 | single nucleotide variant | NM_173354.5(SIK1):c.1133G>T (p.Gly378Val) | Developmental and epileptic encephalopathy, 30 [RCV001315309] | uncertain significance | 21 | 43419465 | 43419465 | Human | 1 | name |
| 126746876 | CV1014368 | single nucleotide variant | NM_173354.5(SIK1):c.1087C>T (p.Arg363Trp) | Developmental and epileptic encephalopathy, 30 [RCV001326076] | uncertain significance | 21 | 43419891 | 43419891 | Human | 1 | name |
| 126726215 | CV1018754 | single nucleotide variant | NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) | Developmental and epileptic encephalopathy, 30 [RCV001331845]|Inborn genetic diseases [RCV002546511] | uncertain significance | 21 | 43417615 | 43417615 | Human | 2 | name |
| 126748543 | CV1034931 | single nucleotide variant | NM_173354.5(SIK1):c.1939G>A (p.Gly647Ser) | Developmental and epileptic encephalopathy, 30 [RCV001337673] | uncertain significance | 21 | 43417580 | 43417580 | Human | 1 | name |
| 126757762 | CV1034932 | single nucleotide variant | NM_173354.5(SIK1):c.1783C>T (p.Arg595Trp) | Developmental and epileptic encephalopathy, 30 [RCV001339659]|not provided [RCV001532454] | uncertain significance | 21 | 43417736 | 43417736 | Human | 1 | name |
| 126725853 | CV1034933 | single nucleotide variant | NM_173354.5(SIK1):c.1634C>T (p.Ser545Leu) | Developmental and epileptic encephalopathy, 30 [RCV001348281]|Inborn genetic diseases [RCV004036550] | likely benign|uncertain significance | 21 | 43418370 | 43418370 | Human | 2 | name |
| 126766599 | CV1034935 | single nucleotide variant | NM_173354.5(SIK1):c.1295G>A (p.Arg432Gln) | Developmental and epileptic encephalopathy, 30 [RCV001342490]|not provided [RCV005243518] | uncertain significance | 21 | 43419188 | 43419188 | Human | 1 | name |
| 126919939 | CV1051906 | single nucleotide variant | NM_173354.5(SIK1):c.2201T>C (p.Ile734Thr) | Developmental and epileptic encephalopathy, 30 [RCV001373516]|Inborn genetic diseases [RCV002432052] | likely benign|uncertain significance | 21 | 43416893 | 43416893 | Human | 2 | name |
| 126923632 | CV1051908 | single nucleotide variant | NM_173354.5(SIK1):c.2149G>A (p.Gly717Ser) | Developmental and epileptic encephalopathy, 30 [RCV001366070] | uncertain significance | 21 | 43416945 | 43416945 | Human | 1 | name |
| 126921169 | CV1051910 | single nucleotide variant | NM_173354.5(SIK1):c.2052T>G (p.Phe684Leu) | Developmental and epileptic encephalopathy, 30 [RCV001363322]|not specified [RCV004587142] | uncertain significance | 21 | 43417042 | 43417042 | Human | 1 | name |
| 126922012 | CV1051911 | single nucleotide variant | NM_173354.5(SIK1):c.1991A>G (p.Gln664Arg) | Developmental and epileptic encephalopathy, 30 [RCV001364164] | uncertain significance | 21 | 43417103 | 43417103 | Human | 1 | name |
| 126914339 | CV1051914 | single nucleotide variant | NM_173354.5(SIK1):c.1777A>T (p.Thr593Ser) | Developmental and epileptic encephalopathy, 30 [RCV001359502]|Inborn genetic diseases [RCV002547721] | uncertain significance | 21 | 43417742 | 43417742 | Human | 2 | name |
| 126921722 | CV1051916 | single nucleotide variant | NM_173354.5(SIK1):c.1450C>A (p.Leu484Ile) | Developmental and epileptic encephalopathy, 30 [RCV001363830] | uncertain significance | 21 | 43419033 | 43419033 | Human | 1 | name |
| 126923032 | CV1051917 | single nucleotide variant | NM_173354.5(SIK1):c.1447C>T (p.Pro483Ser) | Developmental and epileptic encephalopathy, 30 [RCV001365379]|Inborn genetic diseases [RCV004681144] | uncertain significance | 21 | 43419036 | 43419036 | Human | 2 | name |
| 127246344 | CV1085739 | indel | NM_173354.5(SIK1):c.499+10_499+11delinsCC | Developmental and epileptic encephalopathy, 30 [RCV001398949]|not specified [RCV003987863] | likely benign | 21 | 43421627 | 43421628 | Human | | name |
| 127268409 | CV1107448 | single nucleotide variant | NM_173354.5(SIK1):c.1601C>T (p.Ser534Phe) | Developmental and epileptic encephalopathy, 30 [RCV001440774] | likely benign | 21 | 43418403 | 43418403 | Human | 1 | name |
| 150550337 | CV1300194 | single nucleotide variant | NM_173354.5(SIK1):c.2042C>T (p.Pro681Leu) | not provided [RCV001765664] | uncertain significance | 21 | 43417052 | 43417052 | Human | | name |
| 150552446 | CV1301422 | single nucleotide variant | NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser) | Developmental and epileptic encephalopathy, 30 [RCV003446903]|not provided [RCV001767832] | uncertain significance | 21 | 43417029 | 43417029 | Human | 1 | name |
| 151351788 | CV1323633 | single nucleotide variant | NM_173354.5(SIK1):c.1153C>T (p.Arg385Ter) | Global developmental delay [RCV001807537] | likely pathogenic | 21 | 43419445 | 43419445 | Human | 2 | name |
| 151868564 | CV1338608 | single nucleotide variant | NM_173354.5(SIK1):c.1643C>A (p.Ala548Asp) | Developmental and epileptic encephalopathy, 30 [RCV001884845] | uncertain significance | 21 | 43418361 | 43418361 | Human | 1 | name |
| 151761677 | CV1340785 | single nucleotide variant | NM_173354.5(SIK1):c.2320T>C (p.Cys774Arg) | Developmental and epileptic encephalopathy, 30 [RCV001987344] | uncertain significance | 21 | 43416774 | 43416774 | Human | 1 | name |
| 151797849 | CV1352661 | single nucleotide variant | NM_173354.5(SIK1):c.1078A>T (p.Arg360Trp) | Developmental and epileptic encephalopathy, 30 [RCV001877106] | uncertain significance | 21 | 43419900 | 43419900 | Human | 1 | name |
| 151747484 | CV1352951 | single nucleotide variant | NM_173354.5(SIK1):c.2038G>A (p.Ala680Thr) | Developmental and epileptic encephalopathy, 30 [RCV001912599] | uncertain significance | 21 | 43417056 | 43417056 | Human | 1 | name |
| 151891151 | CV1356308 | single nucleotide variant | NM_173354.5(SIK1):c.1690C>T (p.Leu564Phe) | Developmental and epileptic encephalopathy, 30 [RCV001943264] | uncertain significance | 21 | 43418314 | 43418314 | Human | 1 | name |
| 151843166 | CV1357860 | single nucleotide variant | NM_173354.5(SIK1):c.1076C>G (p.Ala359Gly) | Developmental and epileptic encephalopathy, 30 [RCV001881606] | uncertain significance | 21 | 43419902 | 43419902 | Human | 1 | name |
| 151805212 | CV1359259 | single nucleotide variant | NM_173354.5(SIK1):c.1682C>T (p.Ala561Val) | Developmental and epileptic encephalopathy, 30 [RCV002028463] | uncertain significance | 21 | 43418322 | 43418322 | Human | 1 | name |
| 151854846 | CV1372742 | single nucleotide variant | NM_173354.5(SIK1):c.1201C>T (p.Leu401Phe) | Developmental and epileptic encephalopathy, 30 [RCV001996411] | uncertain significance | 21 | 43419397 | 43419397 | Human | 1 | name |
| 151883267 | CV1384142 | single nucleotide variant | NM_173354.5(SIK1):c.1304C>T (p.Ser435Phe) | Developmental and epileptic encephalopathy, 30 [RCV001886902] | uncertain significance | 21 | 43419179 | 43419179 | Human | 1 | name |
| 151751702 | CV1385470 | single nucleotide variant | NM_173354.5(SIK1):c.1829G>T (p.Arg610Leu) | Developmental and epileptic encephalopathy, 30 [RCV001969250] | uncertain significance | 21 | 43417690 | 43417690 | Human | 1 | name |
| 151851208 | CV1386099 | single nucleotide variant | NM_173354.5(SIK1):c.1342G>A (p.Ala448Thr) | Developmental and epileptic encephalopathy, 30 [RCV001937373] | uncertain significance | 21 | 43419141 | 43419141 | Human | 1 | name |
| 151846273 | CV1386423 | single nucleotide variant | NM_173354.5(SIK1):c.2321G>C (p.Cys774Ser) | Developmental and epileptic encephalopathy, 30 [RCV001881983] | uncertain significance | 21 | 43416773 | 43416773 | Human | 1 | name |
| 151794353 | CV1390444 | single nucleotide variant | NM_173354.5(SIK1):c.1481C>T (p.Ser494Phe) | Developmental and epileptic encephalopathy, 30 [RCV001952343] | uncertain significance | 21 | 43418523 | 43418523 | Human | 1 | name |
| 151752858 | CV1398160 | single nucleotide variant | NM_173354.5(SIK1):c.1754C>T (p.Ala585Val) | Developmental and epileptic encephalopathy, 30 [RCV001969372] | uncertain significance | 21 | 43417765 | 43417765 | Human | 1 | name |
| 151714116 | CV1399384 | single nucleotide variant | NM_173354.5(SIK1):c.1235C>T (p.Ser412Leu) | Developmental and epileptic encephalopathy, 30 [RCV001908619]|Inborn genetic diseases [RCV002361186]|not provided [RCV003438887] | likely benign|uncertain significance | 21 | 43419363 | 43419363 | Human | 2 | name |
| 151765102 | CV1403241 | single nucleotide variant | NM_173354.5(SIK1):c.1168T>C (p.Cys390Arg) | Developmental and epileptic encephalopathy, 30 [RCV001914422] | uncertain significance | 21 | 43419430 | 43419430 | Human | 1 | name |
| 151721805 | CV1421847 | single nucleotide variant | NM_173354.5(SIK1):c.1642G>A (p.Ala548Thr) | Developmental and epileptic encephalopathy, 30 [RCV001909850]|Inborn genetic diseases [RCV005278957] | likely benign|uncertain significance | 21 | 43418362 | 43418362 | Human | 2 | name |
| 151804448 | CV1432330 | single nucleotide variant | NM_173354.5(SIK1):c.2062C>G (p.Pro688Ala) | Developmental and epileptic encephalopathy, 30 [RCV001991249] | uncertain significance | 21 | 43417032 | 43417032 | Human | 1 | name |
| 151774144 | CV1440043 | single nucleotide variant | NM_173354.5(SIK1):c.1784G>A (p.Arg595Gln) | Developmental and epileptic encephalopathy, 30 [RCV001874736]|Inborn genetic diseases [RCV005271439] | likely benign|uncertain significance | 21 | 43417735 | 43417735 | Human | 2 | name |
| 151795670 | CV1449056 | single nucleotide variant | NM_173354.5(SIK1):c.2060C>T (p.Ala687Val) | Developmental and epileptic encephalopathy, 30 [RCV001990483] | uncertain significance | 21 | 43417034 | 43417034 | Human | 1 | name |
| 151884049 | CV1452551 | single nucleotide variant | NM_173354.5(SIK1):c.1670G>A (p.Gly557Asp) | Developmental and epileptic encephalopathy, 30 [RCV002037473]|Inborn genetic diseases [RCV003164007] | uncertain significance | 21 | 43418334 | 43418334 | Human | 2 | name |
| 151731213 | CV1457941 | single nucleotide variant | NM_173354.5(SIK1):c.1159G>A (p.Ala387Thr) | Developmental and epileptic encephalopathy, 30 [RCV001967130] | uncertain significance | 21 | 43419439 | 43419439 | Human | 1 | name |
| 151730651 | CV1463942 | single nucleotide variant | NM_173354.5(SIK1):c.1471G>A (p.Val491Ile) | Developmental and epileptic encephalopathy, 30 [RCV001946011] | uncertain significance | 21 | 43418533 | 43418533 | Human | 1 | name |
| 151795420 | CV1470924 | single nucleotide variant | NM_173354.5(SIK1):c.1921G>A (p.Ala641Thr) | Developmental and epileptic encephalopathy, 30 [RCV001952434] | uncertain significance | 21 | 43417598 | 43417598 | Human | 1 | name |
| 151827750 | CV1472118 | single nucleotide variant | NM_173354.5(SIK1):c.2047C>T (p.Pro683Ser) | Developmental and epileptic encephalopathy, 30 [RCV002030499] | uncertain significance | 21 | 43417047 | 43417047 | Human | 1 | name |
| 151877893 | CV1475815 | single nucleotide variant | NM_173354.5(SIK1):c.1304C>G (p.Ser435Cys) | Developmental and epileptic encephalopathy, 30 [RCV002019765] | uncertain significance | 21 | 43419179 | 43419179 | Human | 1 | name |
| 151824806 | CV1478325 | single nucleotide variant | NM_173354.5(SIK1):c.1115T>G (p.Leu372Trp) | Developmental and epileptic encephalopathy, 30 [RCV002030242] | uncertain significance | 21 | 43419863 | 43419863 | Human | 1 | name |
| 151848606 | CV1480356 | single nucleotide variant | NM_173354.5(SIK1):c.2137C>G (p.Leu713Val) | Developmental and epileptic encephalopathy, 30 [RCV001903788] | uncertain significance | 21 | 43416957 | 43416957 | Human | 1 | name |
| 151745230 | CV1485035 | single nucleotide variant | NM_173354.5(SIK1):c.1595C>T (p.Ala532Val) | Developmental and epileptic encephalopathy, 30 [RCV002006235] | uncertain significance | 21 | 43418409 | 43418409 | Human | 1 | name |
| 151870997 | CV1488677 | single nucleotide variant | NM_173354.5(SIK1):c.1981C>T (p.Leu661Phe) | Developmental and epileptic encephalopathy, 30 [RCV002035664] | uncertain significance | 21 | 43417113 | 43417113 | Human | 1 | name |
| 151809242 | CV1498812 | single nucleotide variant | NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr) | Developmental and epileptic encephalopathy, 30 [RCV002048698] | uncertain significance | 21 | 43419027 | 43419027 | Human | 1 | name |
| 151764410 | CV1499545 | single nucleotide variant | NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu) | Developmental and epileptic encephalopathy, 30 [RCV001863467]|not provided [RCV003232438] | uncertain significance | 21 | 43416851 | 43416851 | Human | 1 | name |
| 151719754 | CV1500228 | single nucleotide variant | NM_173354.5(SIK1):c.2084C>T (p.Ala695Val) | Developmental and epileptic encephalopathy, 30 [RCV001909539] | uncertain significance | 21 | 43417010 | 43417010 | Human | 1 | name |
| 151745541 | CV1501830 | single nucleotide variant | NM_173354.5(SIK1):c.2258C>T (p.Ala753Val) | Developmental and epileptic encephalopathy, 30 [RCV002042685] | uncertain significance | 21 | 43416836 | 43416836 | Human | 1 | name |
| 151847868 | CV1502426 | single nucleotide variant | NM_173354.5(SIK1):c.2161G>A (p.Val721Met) | Developmental and epileptic encephalopathy, 30 [RCV001882201] | uncertain significance | 21 | 43416933 | 43416933 | Human | 1 | name |
| 151840479 | CV1508246 | single nucleotide variant | NM_173354.5(SIK1):c.2014G>C (p.Gly672Arg) | Developmental and epileptic encephalopathy, 30 [RCV001956687] | uncertain significance | 21 | 43417080 | 43417080 | Human | 1 | name |
| 151873961 | CV1511379 | single nucleotide variant | NM_173354.5(SIK1):c.1279G>A (p.Gly427Arg) | Developmental and epileptic encephalopathy, 30 [RCV001960806] | uncertain significance | 21 | 43419204 | 43419204 | Human | 1 | name |
| 151727930 | CV1511859 | single nucleotide variant | NM_173354.5(SIK1):c.1160C>T (p.Ala387Val) | Developmental and epileptic encephalopathy, 30 [RCV001983903] | uncertain significance | 21 | 43419438 | 43419438 | Human | 1 | name |
| 152098857 | CV1530991 | single nucleotide variant | NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) | Developmental and epileptic encephalopathy, 30 [RCV002132996] | likely benign|conflicting interpretations of pathogenicity | 21 | 43419923 | 43419923 | Human | 1 | name |
| 155265308 | CV1695501 | single nucleotide variant | NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter) | Developmental and epileptic encephalopathy, 30 [RCV002280233] | likely pathogenic | 21 | 43417680 | 43417680 | Human | 1 | name |
| 155717352 | CV1772041 | single nucleotide variant | NM_173354.5(SIK1):c.2200A>C (p.Ile734Leu) | Developmental and epileptic encephalopathy, 30 [RCV002296528] | uncertain significance | 21 | 43416894 | 43416894 | Human | 1 | name |
| 155699956 | CV1773049 | single nucleotide variant | NM_173354.5(SIK1):c.1345A>G (p.Arg449Gly) | Developmental and epileptic encephalopathy, 30 [RCV002295567] | uncertain significance | 21 | 43419138 | 43419138 | Human | 1 | name |
| 155747531 | CV1774680 | single nucleotide variant | NM_173354.5(SIK1):c.1902C>G (p.Ser634Arg) | Developmental and epileptic encephalopathy, 30 [RCV002303676]|Inborn genetic diseases [RCV003097956] | uncertain significance | 21 | 43417617 | 43417617 | Human | 2 | name |
| 155741006 | CV1777144 | single nucleotide variant | NM_173354.5(SIK1):c.1759C>T (p.Arg587Trp) | Developmental and epileptic encephalopathy, 30 [RCV002302403] | uncertain significance | 21 | 43417760 | 43417760 | Human | 1 | name |
| 155749892 | CV1779319 | single nucleotide variant | NM_173354.5(SIK1):c.1892C>T (p.Pro631Leu) | Developmental and epileptic encephalopathy, 30 [RCV002305130] | uncertain significance | 21 | 43417627 | 43417627 | Human | 1 | name |
| 155739541 | CV1779588 | single nucleotide variant | NM_173354.5(SIK1):c.1172C>G (p.Pro391Arg) | Developmental and epileptic encephalopathy, 30 [RCV002302225] | uncertain significance | 21 | 43419426 | 43419426 | Human | 1 | name |
| 155738465 | CV1832054 | single nucleotide variant | NM_173354.5(SIK1):c.1820G>A (p.Gly607Glu) | Inborn genetic diseases [RCV002410352] | uncertain significance | 21 | 43417699 | 43417699 | Human | 1 | name |
| 155744032 | CV1838740 | single nucleotide variant | NM_173354.5(SIK1):c.1855C>T (p.Arg619Trp) | Developmental and epileptic encephalopathy, 30 [RCV003100891]|Inborn genetic diseases [RCV002413080] | uncertain significance | 21 | 43417664 | 43417664 | Human | 2 | name |
| 155804239 | CV1866673 | single nucleotide variant | NM_173354.5(SIK1):c.2126T>C (p.Leu709Pro) | Developmental and epileptic encephalopathy, 30 [RCV002571551]|not provided [RCV002481220] | uncertain significance | 21 | 43416968 | 43416968 | Human | 1 | name |
| 156148596 | CV1878815 | single nucleotide variant | NM_173354.5(SIK1):c.1375G>A (p.Asp459Asn) | Developmental and epileptic encephalopathy, 30 [RCV003056451] | uncertain significance | 21 | 43419108 | 43419108 | Human | 1 | name |
| 10044742 | CV187941 | single nucleotide variant | NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) | Developmental and epileptic encephalopathy, 30 [RCV000170345] | pathogenic | 21 | 43419939 | 43419939 | Human | 1 | name |
| 10044743 | CV187942 | single nucleotide variant | NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) | Developmental and epileptic encephalopathy, 30 [RCV000170346] | pathogenic | 21 | 43417679 | 43417679 | Human | 1 | name |
| 10044744 | CV187943 | single nucleotide variant | NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) | Developmental and epileptic encephalopathy, 30 [RCV000170347] | pathogenic|conflicting interpretations of pathogenicity | 21 | 43417622 | 43417622 | Human | 1 | name |
| 10044745 | CV187944 | single nucleotide variant | NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) | Developmental and epileptic encephalopathy, 30 [RCV000170348] | pathogenic | 21 | 43417613 | 43417613 | Human | 1 | name |
| 156200526 | CV1882962 | single nucleotide variant | NM_173354.5(SIK1):c.1189G>A (p.Val397Met) | Developmental and epileptic encephalopathy, 30 [RCV003084198] | uncertain significance | 21 | 43419409 | 43419409 | Human | 1 | name |
| 156352149 | CV1883303 | single nucleotide variant | NM_173354.5(SIK1):c.2036C>T (p.Pro679Leu) | Developmental and epileptic encephalopathy, 30 [RCV003091063] | uncertain significance | 21 | 43417058 | 43417058 | Human | 1 | name |
| 156134401 | CV1905602 | single nucleotide variant | NM_173354.5(SIK1):c.1892C>G (p.Pro631Arg) | Developmental and epileptic encephalopathy, 30 [RCV003081961]|not provided [RCV004598238] | uncertain significance | 21 | 43417627 | 43417627 | Human | 1 | name |
| 156179840 | CV1924420 | single nucleotide variant | NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr) | Developmental and epileptic encephalopathy, 30 [RCV002625003]|Inborn genetic diseases [RCV003162070] | benign|likely benign|conflicting interpretations of pathogenicity | 21 | 43416942 | 43416942 | Human | 2 | name |
| 155911956 | CV1935278 | single nucleotide variant | NM_173354.5(SIK1):c.2099C>T (p.Thr700Ile) | Developmental and epileptic encephalopathy, 30 [RCV002510607] | uncertain significance | 21 | 43416995 | 43416995 | Human | 1 | name |
| 155913060 | CV1935400 | single nucleotide variant | NM_173354.5(SIK1):c.1463G>T (p.Cys488Phe) | Developmental and epileptic encephalopathy, 30 [RCV002510734] | uncertain significance | 21 | 43418541 | 43418541 | Human | 1 | name |
| 156439090 | CV1943959 | single nucleotide variant | NM_173354.5(SIK1):c.2053G>A (p.Val685Met) | Developmental and epileptic encephalopathy, 30 [RCV003109043] | uncertain significance | 21 | 43417041 | 43417041 | Human | 1 | name |
| 156437435 | CV1947442 | single nucleotide variant | NM_173354.5(SIK1):c.1922C>T (p.Ala641Val) | Developmental and epileptic encephalopathy, 30 [RCV003106972] | uncertain significance | 21 | 43417597 | 43417597 | Human | 1 | name |
| 156409071 | CV1954633 | single nucleotide variant | NM_173354.5(SIK1):c.1262T>C (p.Val421Ala) | Developmental and epileptic encephalopathy, 30 [RCV002586703] | uncertain significance | 21 | 43419221 | 43419221 | Human | 1 | name |
| 156256611 | CV1960888 | single nucleotide variant | NM_173354.5(SIK1):c.1408C>T (p.Arg470Trp) | Developmental and epileptic encephalopathy, 30 [RCV002576708] | uncertain significance | 21 | 43419075 | 43419075 | Human | 1 | name |
| 156354444 | CV1962272 | single nucleotide variant | NM_173354.5(SIK1):c.1495C>G (p.Pro499Ala) | Developmental and epileptic encephalopathy, 30 [RCV002581292] | uncertain significance | 21 | 43418509 | 43418509 | Human | 1 | name |
| 156335825 | CV1966872 | single nucleotide variant | NM_173354.5(SIK1):c.1793G>C (p.Gly598Ala) | Developmental and epileptic encephalopathy, 30 [RCV002601024] | uncertain significance | 21 | 43417726 | 43417726 | Human | 1 | name |
| 156335840 | CV1966873 | single nucleotide variant | NM_173354.5(SIK1):c.1051G>T (p.Ala351Ser) | Developmental and epileptic encephalopathy, 30 [RCV002601025] | uncertain significance | 21 | 43419927 | 43419927 | Human | 1 | name |
| 156419497 | CV1967281 | single nucleotide variant | NM_173354.5(SIK1):c.1661C>T (p.Ala554Val) | Developmental and epileptic encephalopathy, 30 [RCV002612734] | uncertain significance | 21 | 43418343 | 43418343 | Human | 1 | name |
| 156326904 | CV1972776 | single nucleotide variant | NM_173354.5(SIK1):c.1036A>G (p.Lys346Glu) | Developmental and epileptic encephalopathy, 30 [RCV002600579] | uncertain significance | 21 | 43419942 | 43419942 | Human | 1 | name |
| 156337146 | CV1988402 | single nucleotide variant | NM_173354.5(SIK1):c.2135C>A (p.Pro712Gln) | Developmental and epileptic encephalopathy, 30 [RCV002631243] | uncertain significance | 21 | 43416959 | 43416959 | Human | 1 | name |
| 156327939 | CV1990697 | single nucleotide variant | NM_173354.5(SIK1):c.1898A>G (p.Gln633Arg) | Developmental and epileptic encephalopathy, 30 [RCV002630762] | uncertain significance | 21 | 43417621 | 43417621 | Human | 1 | name |
| 156284992 | CV2001646 | single nucleotide variant | NM_173354.5(SIK1):c.1721C>T (p.Ala574Val) | Developmental and epileptic encephalopathy, 30 [RCV002646974] | uncertain significance | 21 | 43418283 | 43418283 | Human | 1 | name |
| 156373177 | CV2028265 | single nucleotide variant | NM_173354.5(SIK1):c.1728C>G (p.Asp576Glu) | Developmental and epileptic encephalopathy, 30 [RCV002721692] | uncertain significance | 21 | 43418276 | 43418276 | Human | 1 | name |
| 155998545 | CV2045407 | single nucleotide variant | NM_173354.5(SIK1):c.1829G>C (p.Arg610Pro) | Developmental and epileptic encephalopathy, 30 [RCV002756086] | uncertain significance | 21 | 43417690 | 43417690 | Human | 1 | name |
| 156334121 | CV2057670 | single nucleotide variant | NM_173354.5(SIK1):c.1445C>T (p.Ser482Phe) | Developmental and epileptic encephalopathy, 30 [RCV002810841] | uncertain significance | 21 | 43419038 | 43419038 | Human | 1 | name |
| 156116198 | CV2058489 | single nucleotide variant | NM_173354.5(SIK1):c.2230G>C (p.Val744Leu) | Developmental and epileptic encephalopathy, 30 [RCV002825116] | uncertain significance | 21 | 43416864 | 43416864 | Human | 1 | name |
| 156015120 | CV2061564 | single nucleotide variant | NM_173354.5(SIK1):c.1789A>G (p.Lys597Glu) | Developmental and epileptic encephalopathy, 30 [RCV002820335] | uncertain significance | 21 | 43417730 | 43417730 | Human | 1 | name |
| 155910465 | CV2069374 | single nucleotide variant | NM_173354.5(SIK1):c.2302A>G (p.Met768Val) | Developmental and epileptic encephalopathy, 30 [RCV002837672] | uncertain significance | 21 | 43416792 | 43416792 | Human | 1 | name |
| 156299544 | CV2069836 | single nucleotide variant | NM_173354.5(SIK1):c.1823T>C (p.Leu608Pro) | Developmental and epileptic encephalopathy, 30 [RCV002833556] | uncertain significance | 21 | 43417696 | 43417696 | Human | 1 | name |
| 156260769 | CV2099077 | single nucleotide variant | NM_173354.5(SIK1):c.1330A>G (p.Ile444Val) | Developmental and epileptic encephalopathy, 30 [RCV002895570] | uncertain significance | 21 | 43419153 | 43419153 | Human | 1 | name |
| 156073357 | CV2102062 | single nucleotide variant | NM_173354.5(SIK1):c.2123T>C (p.Leu708Pro) | Developmental and epileptic encephalopathy, 30 [RCV002912455] | uncertain significance | 21 | 43416971 | 43416971 | Human | 1 | name |
| 156367522 | CV2116881 | single nucleotide variant | NM_173354.5(SIK1):c.1918G>T (p.Gly640Cys) | Developmental and epileptic encephalopathy, 30 [RCV002942066] | uncertain significance | 21 | 43417601 | 43417601 | Human | 1 | name |
| 155914037 | CV2149620 | single nucleotide variant | NM_173354.5(SIK1):c.1477C>A (p.Pro493Thr) | Developmental and epileptic encephalopathy, 30 [RCV003012467] | uncertain significance | 21 | 43418527 | 43418527 | Human | 1 | name |
| 156203442 | CV2150240 | single nucleotide variant | NM_173354.5(SIK1):c.1341G>C (p.Glu447Asp) | Developmental and epileptic encephalopathy, 30 [RCV003006406] | uncertain significance | 21 | 43419142 | 43419142 | Human | 1 | name |
| 156238053 | CV2154496 | single nucleotide variant | NM_173354.5(SIK1):c.1990C>T (p.Gln664Ter) | Developmental and epileptic encephalopathy, 30 [RCV003025902] | uncertain significance | 21 | 43417104 | 43417104 | Human | 1 | name |
| 156090090 | CV2155592 | single nucleotide variant | NM_173354.5(SIK1):c.1151T>A (p.Phe384Tyr) | Developmental and epileptic encephalopathy, 30 [RCV003020651] | uncertain significance | 21 | 43419447 | 43419447 | Human | 1 | name |
| 156209951 | CV2175617 | single nucleotide variant | NM_173354.5(SIK1):c.2279G>A (p.Gly760Glu) | Developmental and epileptic encephalopathy, 30 [RCV003024767] | uncertain significance | 21 | 43416815 | 43416815 | Human | 1 | name |
| 156320533 | CV2182596 | single nucleotide variant | NM_173354.5(SIK1):c.1799T>A (p.Leu600Gln) | Developmental and epileptic encephalopathy, 30 [RCV003046571]|Inborn genetic diseases [RCV005281293] | uncertain significance | 21 | 43417720 | 43417720 | Human | 2 | name |
| 155962857 | CV2183656 | single nucleotide variant | NM_173354.5(SIK1):c.1097G>A (p.Ser366Asn) | Developmental and epileptic encephalopathy, 30 [RCV003033028] | uncertain significance | 21 | 43419881 | 43419881 | Human | 1 | name |
| 156126880 | CV2185703 | single nucleotide variant | NM_173354.5(SIK1):c.1394C>T (p.Pro465Leu) | Developmental and epileptic encephalopathy, 30 [RCV003055685] | uncertain significance | 21 | 43419089 | 43419089 | Human | 1 | name |
| 156051247 | CV2237966 | single nucleotide variant | NM_173354.5(SIK1):c.1547G>A (p.Ser516Asn) | Inborn genetic diseases [RCV002782033] | uncertain significance | 21 | 43418457 | 43418457 | Human | 1 | name |
| 156364474 | CV2342023 | single nucleotide variant | NM_173354.5(SIK1):c.1078A>G (p.Arg360Gly) | Inborn genetic diseases [RCV002941838] | uncertain significance | 21 | 43419900 | 43419900 | Human | 1 | name |
| 156439909 | CV2401590 | single nucleotide variant | NM_173354.5(SIK1):c.1291C>T (p.Pro431Ser) | not provided [RCV003109878] | uncertain significance | 21 | 43419192 | 43419192 | Human | | name |
| 243060694 | CV2408548 | single nucleotide variant | NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser) | Developmental and epileptic encephalopathy, 30 [RCV003136677] | uncertain significance | 21 | 43417035 | 43417035 | Human | 1 | name |
| 401758779 | CV2694274 | single nucleotide variant | NM_173354.5(SIK1):c.1450C>T (p.Leu484Phe) | Developmental and epileptic encephalopathy, 30 [RCV005102571]|Inborn genetic diseases [RCV003279906] | uncertain significance | 21 | 43419033 | 43419033 | Human | 2 | name |
| 11639296 | CV269845 | single nucleotide variant | NM_173354.5(SIK1):c.1210G>A (p.Glu404Lys) | Developmental and epileptic encephalopathy, 30 [RCV001345589]|not provided [RCV000316940] | uncertain significance | 21 | 43419388 | 43419388 | Human | 1 | name |
| 401743338 | CV2715456 | single nucleotide variant | NM_173354.5(SIK1):c.1871G>T (p.Gly624Val) | Inborn genetic diseases [RCV003293055] | likely benign | 21 | 43417648 | 43417648 | Human | 1 | name |
| 401796834 | CV2739809 | single nucleotide variant | NM_173354.5(SIK1):c.1936G>A (p.Glu646Lys) | not provided [RCV003319770] | uncertain significance | 21 | 43417583 | 43417583 | Human | | name |
| 401860291 | CV2768544 | single nucleotide variant | NM_173354.5(SIK1):c.2333C>T (p.Thr778Met) | Inborn genetic diseases [RCV003357396] | uncertain significance | 21 | 43416761 | 43416761 | Human | 1 | name |
| 401887481 | CV2773329 | single nucleotide variant | NM_173354.5(SIK1):c.1525C>A (p.Leu509Met) | Inborn genetic diseases [RCV003367124] | uncertain significance | 21 | 43418479 | 43418479 | Human | 1 | name |
| 401930621 | CV2824804 | single nucleotide variant | NM_173354.5(SIK1):c.2117T>A (p.Leu706His) | Developmental and epileptic encephalopathy, 30 [RCV003778421]|not provided [RCV003440595] | uncertain significance | 21 | 43416977 | 43416977 | Human | 1 | name |
| 401912743 | CV2829969 | single nucleotide variant | NM_173354.5(SIK1):c.1648C>T (p.Pro550Ser) | not provided [RCV003441183] | uncertain significance | 21 | 43418356 | 43418356 | Human | | name |
| 401912744 | CV2829970 | single nucleotide variant | NM_173354.5(SIK1):c.1670G>T (p.Gly557Val) | not provided [RCV003441184] | uncertain significance | 21 | 43418334 | 43418334 | Human | | name |
| 404999630 | CV2851019 | single nucleotide variant | NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe) | Developmental and epileptic encephalopathy, 30 [RCV003493155] | uncertain significance | 21 | 43419050 | 43419050 | Human | 1 | name |
| 405188389 | CV2862064 | single nucleotide variant | NM_173354.5(SIK1):c.1972C>T (p.Gln658Ter) | Developmental and epileptic encephalopathy, 30 [RCV003589651] | uncertain significance | 21 | 43417547 | 43417547 | Human | 1 | name |
| 405182716 | CV2863819 | single nucleotide variant | NM_173354.5(SIK1):c.1795T>A (p.Phe599Ile) | Developmental and epileptic encephalopathy, 30 [RCV003588940] | uncertain significance | 21 | 43417724 | 43417724 | Human | 1 | name |
| 405183011 | CV2864236 | single nucleotide variant | NM_173354.5(SIK1):c.1510A>C (p.Ser504Arg) | Developmental and epileptic encephalopathy, 30 [RCV003588980] | uncertain significance | 21 | 43418494 | 43418494 | Human | 1 | name |
| 405197272 | CV2869724 | single nucleotide variant | NM_173354.5(SIK1):c.2129C>T (p.Pro710Leu) | Developmental and epileptic encephalopathy, 30 [RCV003590700] | uncertain significance | 21 | 43416965 | 43416965 | Human | 1 | name |
| 405175758 | CV2888753 | single nucleotide variant | NM_173354.5(SIK1):c.1852A>G (p.Ser618Gly) | Developmental and epileptic encephalopathy, 30 [RCV003588081] | uncertain significance | 21 | 43417667 | 43417667 | Human | 1 | name |
| 405184707 | CV2896528 | single nucleotide variant | NM_173354.5(SIK1):c.1915G>C (p.Gly639Arg) | Developmental and epileptic encephalopathy, 30 [RCV003589226] | uncertain significance | 21 | 43417604 | 43417604 | Human | 1 | name |
| 405184667 | CV2900638 | single nucleotide variant | NM_173354.5(SIK1):c.2258C>G (p.Ala753Gly) | Developmental and epileptic encephalopathy, 30 [RCV003589221] | uncertain significance | 21 | 43416836 | 43416836 | Human | 1 | name |
| 405184926 | CV2903420 | single nucleotide variant | NM_173354.5(SIK1):c.1120G>T (p.Val374Leu) | Developmental and epileptic encephalopathy, 30 [RCV003589252] | uncertain significance | 21 | 43419478 | 43419478 | Human | 1 | name |
| 405187053 | CV2915965 | single nucleotide variant | NM_173354.5(SIK1):c.1084C>T (p.Pro362Ser) | Developmental and epileptic encephalopathy, 30 [RCV003589500] | uncertain significance | 21 | 43419894 | 43419894 | Human | 1 | name |
| 405191813 | CV2920063 | single nucleotide variant | NM_173354.5(SIK1):c.1805T>C (p.Leu602Pro) | Developmental and epileptic encephalopathy, 30 [RCV003590034] | uncertain significance | 21 | 43417714 | 43417714 | Human | 1 | name |
| 405193615 | CV2921659 | single nucleotide variant | NM_173354.5(SIK1):c.1258C>A (p.Pro420Thr) | Developmental and epileptic encephalopathy, 30 [RCV003590245] | uncertain significance | 21 | 43419225 | 43419225 | Human | 1 | name |
| 405195065 | CV2931910 | single nucleotide variant | NM_173354.5(SIK1):c.1280G>C (p.Gly427Ala) | Developmental and epileptic encephalopathy, 30 [RCV003590420] | uncertain significance | 21 | 43419203 | 43419203 | Human | 1 | name |
| 405200152 | CV2933775 | single nucleotide variant | NM_173354.5(SIK1):c.2026G>A (p.Ala676Thr) | Developmental and epileptic encephalopathy, 30 [RCV003591114] | uncertain significance | 21 | 43417068 | 43417068 | Human | 1 | name |
| 405108485 | CV2938784 | single nucleotide variant | NM_173354.5(SIK1):c.1580A>C (p.Gln527Pro) | Developmental and epileptic encephalopathy, 30 [RCV003751077] | uncertain significance | 21 | 43418424 | 43418424 | Human | 1 | name |
| 405108162 | CV2946583 | single nucleotide variant | NM_173354.5(SIK1):c.2263G>C (p.Gly755Arg) | Developmental and epileptic encephalopathy, 30 [RCV003751003] | uncertain significance | 21 | 43416831 | 43416831 | Human | 1 | name |
| 405108633 | CV2953076 | single nucleotide variant | NM_173354.5(SIK1):c.1945A>C (p.Ser649Arg) | Developmental and epileptic encephalopathy, 30 [RCV003751109] | uncertain significance | 21 | 43417574 | 43417574 | Human | 1 | name |
| 405111756 | CV2956225 | single nucleotide variant | NM_173354.5(SIK1):c.1688T>C (p.Leu563Pro) | Developmental and epileptic encephalopathy, 30 [RCV003751622] | uncertain significance | 21 | 43418316 | 43418316 | Human | 1 | name |
| 405112249 | CV2968964 | single nucleotide variant | NM_173354.5(SIK1):c.2062C>T (p.Pro688Ser) | Developmental and epileptic encephalopathy, 30 [RCV003751763] | uncertain significance | 21 | 43417032 | 43417032 | Human | 1 | name |
| 405112017 | CV2972210 | single nucleotide variant | NM_173354.5(SIK1):c.2230G>A (p.Val744Met) | Developmental and epileptic encephalopathy, 30 [RCV003751724] | uncertain significance | 21 | 43416864 | 43416864 | Human | 1 | name |
| 405111591 | CV2973798 | single nucleotide variant | NM_173354.5(SIK1):c.1829G>A (p.Arg610His) | Developmental and epileptic encephalopathy, 30 [RCV003751653] | uncertain significance | 21 | 43417690 | 43417690 | Human | 1 | name |
| 405113224 | CV2979146 | single nucleotide variant | NM_173354.5(SIK1):c.2173G>A (p.Ala725Thr) | Developmental and epileptic encephalopathy, 30 [RCV003751933] | uncertain significance | 21 | 43416921 | 43416921 | Human | 1 | name |
| 405113138 | CV2981144 | single nucleotide variant | NM_173354.5(SIK1):c.2189C>T (p.Thr730Ile) | Developmental and epileptic encephalopathy, 30 [RCV003751870] | uncertain significance | 21 | 43416905 | 43416905 | Human | 1 | name |
| 405113742 | CV2991133 | single nucleotide variant | NM_173354.5(SIK1):c.1801G>A (p.Gly601Arg) | Developmental and epileptic encephalopathy, 30 [RCV003752021] | uncertain significance | 21 | 43417718 | 43417718 | Human | 1 | name |
| 405114815 | CV3004397 | single nucleotide variant | NM_173354.5(SIK1):c.1887C>A (p.His629Gln) | Developmental and epileptic encephalopathy, 30 [RCV003752200] | uncertain significance | 21 | 43417632 | 43417632 | Human | 1 | name |
| 405115941 | CV3007024 | single nucleotide variant | NM_173354.5(SIK1):c.1298C>A (p.Pro433His) | Developmental and epileptic encephalopathy, 30 [RCV003752361] | uncertain significance | 21 | 43419185 | 43419185 | Human | 1 | name |
| 405116576 | CV3017220 | single nucleotide variant | NM_173354.5(SIK1):c.1319T>A (p.Leu440Gln) | Developmental and epileptic encephalopathy, 30 [RCV003752372] | uncertain significance | 21 | 43419164 | 43419164 | Human | 1 | name |
| 405105319 | CV3034326 | single nucleotide variant | NM_173354.5(SIK1):c.1045C>T (p.Arg349Trp) | Developmental and epileptic encephalopathy, 30 [RCV003750309] | uncertain significance | 21 | 43419933 | 43419933 | Human | 1 | name |
| 405109451 | CV3058882 | single nucleotide variant | NM_173354.5(SIK1):c.2255T>C (p.Leu752Pro) | Developmental and epileptic encephalopathy, 30 [RCV003751273] | uncertain significance | 21 | 43416839 | 43416839 | Human | 1 | name |
| 405107221 | CV3064449 | single nucleotide variant | NM_173354.5(SIK1):c.1057T>C (p.Cys353Arg) | Developmental and epileptic encephalopathy, 30 [RCV003750741] | uncertain significance | 21 | 43419921 | 43419921 | Human | 1 | name |
| 405107067 | CV3067488 | single nucleotide variant | NM_173354.5(SIK1):c.1066C>T (p.Pro356Ser) | Developmental and epileptic encephalopathy, 30 [RCV003750667]|Inborn genetic diseases [RCV004968422] | likely benign|uncertain significance | 21 | 43419912 | 43419912 | Human | 2 | name |
| 405110488 | CV3073620 | single nucleotide variant | NM_173354.5(SIK1):c.2083G>C (p.Ala695Pro) | Developmental and epileptic encephalopathy, 30 [RCV003751467] | uncertain significance | 21 | 43417011 | 43417011 | Human | 1 | name |
| 405110707 | CV3074277 | single nucleotide variant | NM_173354.5(SIK1):c.1144G>C (p.Asp382His) | Developmental and epileptic encephalopathy, 30 [RCV003751507] | uncertain significance | 21 | 43419454 | 43419454 | Human | 1 | name |
| 404981195 | CV3121117 | single nucleotide variant | NM_173354.5(SIK1):c.1666G>C (p.Gly556Arg) | Developmental and epileptic encephalopathy, 30 [RCV003826109] | uncertain significance | 21 | 43418338 | 43418338 | Human | 1 | name |
| 405138897 | CV3130837 | single nucleotide variant | NM_173354.5(SIK1):c.1933C>T (p.Arg645Trp) | Developmental and epileptic encephalopathy, 30 [RCV003839071] | uncertain significance | 21 | 43417586 | 43417586 | Human | 1 | name |
| 405024865 | CV3133014 | single nucleotide variant | NM_173354.5(SIK1):c.1175A>G (p.Gln392Arg) | Developmental and epileptic encephalopathy, 30 [RCV003830161] | uncertain significance | 21 | 43419423 | 43419423 | Human | 1 | name |
| 405213498 | CV3142808 | single nucleotide variant | NM_173354.5(SIK1):c.1193A>G (p.Gln398Arg) | Developmental and epileptic encephalopathy, 30 [RCV003846166] | uncertain significance | 21 | 43419405 | 43419405 | Human | 1 | name |
| 405229539 | CV3153426 | single nucleotide variant | NM_173354.5(SIK1):c.1967A>G (p.Glu656Gly) | Developmental and epileptic encephalopathy, 30 [RCV003848490] | uncertain significance | 21 | 43417552 | 43417552 | Human | 1 | name |
| 405216956 | CV3160848 | single nucleotide variant | NM_173354.5(SIK1):c.1351G>T (p.Gly451Trp) | Developmental and epileptic encephalopathy, 30 [RCV003862910] | uncertain significance | 21 | 43419132 | 43419132 | Human | 1 | name |
| 405150211 | CV3162848 | single nucleotide variant | NM_173354.5(SIK1):c.2195T>G (p.Leu732Arg) | Developmental and epileptic encephalopathy, 30 [RCV003856291] | uncertain significance | 21 | 43416899 | 43416899 | Human | 1 | name |
| 405255269 | CV3176104 | single nucleotide variant | NM_173354.5(SIK1):c.1478C>G (p.Pro493Arg) | Developmental and epileptic encephalopathy, 30 [RCV003872188] | uncertain significance | 21 | 43418526 | 43418526 | Human | 1 | name |
| 405229987 | CV3176702 | single nucleotide variant | NM_173354.5(SIK1):c.1679G>A (p.Gly560Glu) | Developmental and epileptic encephalopathy, 30 [RCV003865076] | uncertain significance | 21 | 43418325 | 43418325 | Human | 1 | name |
| 405281466 | CV3224142 | single nucleotide variant | NM_173354.5(SIK1):c.1345A>T (p.Arg449Trp) | not specified [RCV003988524] | uncertain significance | 21 | 43419138 | 43419138 | Human | | name |
| 405691412 | CV3227468 | single nucleotide variant | NM_173354.5(SIK1):c.1582G>A (p.Gly528Arg) | Developmental and epileptic encephalopathy, 30 [RCV003991813] | likely benign | 21 | 43418422 | 43418422 | Human | 1 | name |
| 405750140 | CV3311546 | single nucleotide variant | NM_173354.5(SIK1):c.1478C>T (p.Pro493Leu) | Developmental and epileptic encephalopathy, 30 [RCV005065109]|Inborn genetic diseases [RCV004453658] | uncertain significance | 21 | 43418526 | 43418526 | Human | 2 | name |
| 405750147 | CV3311547 | single nucleotide variant | NM_173354.5(SIK1):c.2257G>T (p.Ala753Ser) | Inborn genetic diseases [RCV004453659] | likely benign | 21 | 43416837 | 43416837 | Human | 1 | name |
| 407519279 | CV3480737 | single nucleotide variant | NM_173354.5(SIK1):c.2093C>G (p.Pro698Arg) | Inborn genetic diseases [RCV004676428] | uncertain significance | 21 | 43417001 | 43417001 | Human | 1 | name |
| 407574174 | CV3498523 | single nucleotide variant | NM_173354.5(SIK1):c.1580A>G (p.Gln527Arg) | not specified [RCV004702999] | uncertain significance | 21 | 43418424 | 43418424 | Human | | name |
| 596927458 | CV3536713 | single nucleotide variant | NM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr) | Developmental and epileptic encephalopathy, 30 [RCV004790123] | uncertain significance | 21 | 43416758 | 43416758 | Human | 1 | name |
| 596927473 | CV3536718 | single nucleotide variant | NM_173354.5(SIK1):c.1658A>C (p.Gln553Pro) | Developmental and epileptic encephalopathy, 30 [RCV004790128] | uncertain significance | 21 | 43418346 | 43418346 | Human | 1 | name |
| 12849120 | CV363759 | single nucleotide variant | NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) | Developmental and epileptic encephalopathy, 30 [RCV000546024]|Inborn genetic diseases [RCV002314121]|not provided [RCV000424372] | benign|likely benign | 21 | 43417007 | 43417007 | Human | 2 | name |
| 12849757 | CV364017 | single nucleotide variant | NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) | Developmental and epileptic encephalopathy, 30 [RCV000990353]|Inborn genetic diseases [RCV002311443]|not provided [RCV000435369] | benign|likely benign | 21 | 43419383 | 43419383 | Human | 2 | name |
| 597851719 | CV3737562 | single nucleotide variant | NM_173354.5(SIK1):c.1651G>C (p.Val551Leu) | Developmental and epileptic encephalopathy, 30 [RCV005066335] | uncertain significance | 21 | 43418353 | 43418353 | Human | 1 | name |
| 597886630 | CV3741851 | single nucleotide variant | NM_173354.5(SIK1):c.1276A>G (p.Ser426Gly) | Developmental and epileptic encephalopathy, 30 [RCV005070571] | uncertain significance | 21 | 43419207 | 43419207 | Human | 1 | name |
| 597831059 | CV3743766 | single nucleotide variant | NM_173354.5(SIK1):c.1648C>G (p.Pro550Ala) | Developmental and epileptic encephalopathy, 30 [RCV005062583] | uncertain significance | 21 | 43418356 | 43418356 | Human | 1 | name |
| 597831261 | CV3750867 | single nucleotide variant | NM_173354.5(SIK1):c.1834G>C (p.Val612Leu) | Developmental and epileptic encephalopathy, 30 [RCV005084611] | uncertain significance | 21 | 43417685 | 43417685 | Human | 1 | name |
| 597838987 | CV3758291 | single nucleotide variant | NM_173354.5(SIK1):c.1439G>T (p.Arg480Leu) | Developmental and epileptic encephalopathy, 30 [RCV005086126] | uncertain significance | 21 | 43419044 | 43419044 | Human | 1 | name |
| 597847547 | CV3762054 | single nucleotide variant | NM_173354.5(SIK1):c.1867G>A (p.Gly623Ser) | Developmental and epileptic encephalopathy, 30 [RCV005087472] | uncertain significance | 21 | 43417652 | 43417652 | Human | 1 | name |
| 597868376 | CV3764460 | single nucleotide variant | NM_173354.5(SIK1):c.2293G>A (p.Asp765Asn) | Developmental and epileptic encephalopathy, 30 [RCV005107260] | uncertain significance | 21 | 43416801 | 43416801 | Human | 1 | name |
| 597868383 | CV3764462 | single nucleotide variant | NM_173354.5(SIK1):c.1171C>T (p.Pro391Ser) | Developmental and epileptic encephalopathy, 30 [RCV005107262] | uncertain significance | 21 | 43419427 | 43419427 | Human | 1 | name |
| 597876314 | CV3766594 | single nucleotide variant | NM_173354.5(SIK1):c.1109G>A (p.Ser370Asn) | Developmental and epileptic encephalopathy, 30 [RCV005108534] | uncertain significance | 21 | 43419869 | 43419869 | Human | 1 | name |
| 597909930 | CV3806521 | single nucleotide variant | NM_173354.5(SIK1):c.2060C>G (p.Ala687Gly) | Developmental and epileptic encephalopathy, 30 [RCV005154088] | uncertain significance | 21 | 43417034 | 43417034 | Human | 1 | name |
| 597896084 | CV3810491 | single nucleotide variant | NM_173354.5(SIK1):c.1966G>C (p.Glu656Gln) | Developmental and epileptic encephalopathy, 30 [RCV005152016] | uncertain significance | 21 | 43417553 | 43417553 | Human | 1 | name |
| 597874266 | CV3816814 | single nucleotide variant | NM_173354.5(SIK1):c.1229A>C (p.Gln410Pro) | Developmental and epileptic encephalopathy, 30 [RCV005148867] | uncertain significance | 21 | 43419369 | 43419369 | Human | 1 | name |
| 597835491 | CV3828228 | single nucleotide variant | NM_173354.5(SIK1):c.1250T>C (p.Leu417Ser) | Developmental and epileptic encephalopathy, 30 [RCV005171120] | uncertain significance | 21 | 43419233 | 43419233 | Human | 1 | name |
| 597893714 | CV3833466 | single nucleotide variant | NM_173354.5(SIK1):c.1438C>T (p.Arg480Cys) | Developmental and epileptic encephalopathy, 30 [RCV005180158]|Inborn genetic diseases [RCV005283619] | likely benign|uncertain significance | 21 | 43419045 | 43419045 | Human | 2 | name |
| 597924887 | CV3840478 | single nucleotide variant | NM_173354.5(SIK1):c.1775A>G (p.Lys592Arg) | Developmental and epileptic encephalopathy, 30 [RCV005184949] | uncertain significance | 21 | 43417744 | 43417744 | Human | 1 | name |
| 597950823 | CV3847059 | single nucleotide variant | NM_173354.5(SIK1):c.2062C>A (p.Pro688Thr) | Developmental and epileptic encephalopathy, 30 [RCV005190231] | uncertain significance | 21 | 43417032 | 43417032 | Human | 1 | name |
| 598257397 | CV3914539 | single nucleotide variant | NM_173354.5(SIK1):c.1663C>A (p.Gln555Lys) | Inborn genetic diseases [RCV005279192] | uncertain significance | 21 | 43418341 | 43418341 | Human | 1 | name |
| 598199490 | CV3914540 | single nucleotide variant | NM_173354.5(SIK1):c.2249C>T (p.Ala750Val) | Inborn genetic diseases [RCV005268402] | uncertain significance | 21 | 43416845 | 43416845 | Human | 1 | name |
| 616937908 | CV4013807 | single nucleotide variant | NM_173354.5(SIK1):c.2290G>C (p.Gly764Arg) | Developmental and epileptic encephalopathy, 30 [RCV005413299] | uncertain significance | 21 | 43416804 | 43416804 | Human | 1 | name |
| 13445869 | CV438217 | single nucleotide variant | NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu) | Developmental and epileptic encephalopathy, 30 [RCV000802030]|not provided [RCV000512961] | likely benign|uncertain significance | 21 | 43419224 | 43419224 | Human | 1 | name |
| 13484536 | CV446327 | single nucleotide variant | NM_173354.5(SIK1):c.2191C>A (p.His731Asn) | not provided [RCV000522362] | uncertain significance | 21 | 43416903 | 43416903 | Human | | name |
| 13466511 | CV469658 | single nucleotide variant | NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) | Developmental and epileptic encephalopathy, 30 [RCV000551430] | uncertain significance | 21 | 43418400 | 43418400 | Human | 1 | name |
| 13497838 | CV469663 | single nucleotide variant | NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) | Developmental and epileptic encephalopathy, 30 [RCV000526239]|Inborn genetic diseases [RCV002395477] | benign|likely benign | 21 | 43418515 | 43418515 | Human | 2 | name |
| 13500696 | CV469665 | single nucleotide variant | NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) | Developmental and epileptic encephalopathy, 30 [RCV000538008]|Inborn genetic diseases [RCV002316586]|not provided [RCV003437284] | benign|likely benign|uncertain significance | 21 | 43418533 | 43418533 | Human | 2 | name |
| 13468947 | CV470691 | single nucleotide variant | NM_173354.5(SIK1):c.2243G>A (p.Arg748His) | Developmental and epileptic encephalopathy, 30 [RCV000560539]|Inborn genetic diseases [RCV002311888] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 43416851 | 43416851 | Human | 2 | name |
| 13500067 | CV470696 | single nucleotide variant | NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) | Developmental and epileptic encephalopathy, 30 [RCV000535373]|Inborn genetic diseases [RCV002316588] | benign|likely benign | 21 | 43416890 | 43416890 | Human | 2 | name |
| 13468400 | CV470703 | single nucleotide variant | NM_173354.5(SIK1):c.2093C>T (p.Pro698Leu) | Developmental and epileptic encephalopathy, 30 [RCV000558419] | likely benign|uncertain significance | 21 | 43417001 | 43417001 | Human | 1 | name |
| 13498527 | CV470705 | single nucleotide variant | NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) | Developmental and epileptic encephalopathy, 30 [RCV000529277]|Inborn genetic diseases [RCV002315034]|not provided [RCV003437287] | benign|likely benign | 21 | 43417022 | 43417022 | Human | 2 | name |
| 13467020 | CV470707 | single nucleotide variant | NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser) | Developmental and epileptic encephalopathy, 30 [RCV000553286] | benign|uncertain significance | 21 | 43417080 | 43417080 | Human | 1 | name |
| 13467435 | CV470729 | single nucleotide variant | NM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr) | Developmental and epileptic encephalopathy, 30 [RCV000554654] | uncertain significance | 21 | 43419459 | 43419459 | Human | 1 | name |
| 13464419 | CV470733 | single nucleotide variant | NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys) | Developmental and epileptic encephalopathy, 30 [RCV000542044] | benign|uncertain significance | 21 | 43419469 | 43419469 | Human | 1 | name |
| 13467114 | CV470739 | single nucleotide variant | NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) | Developmental and epileptic encephalopathy, 30 [RCV000553595]|Inborn genetic diseases [RCV002316583]|not provided [RCV003326465] | benign|likely benign | 21 | 43419906 | 43419906 | Human | 2 | name |
| 13465704 | CV471231 | single nucleotide variant | NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys) | Developmental and epileptic encephalopathy, 30 [RCV000548146]|Inborn genetic diseases [RCV002526726] | uncertain significance | 21 | 43416852 | 43416852 | Human | 2 | name |
| 13468660 | CV471232 | single nucleotide variant | NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) | Developmental and epileptic encephalopathy, 30 [RCV000559345]|Inborn genetic diseases [RCV002311887]|not provided [RCV004712888] | benign | 21 | 43416920 | 43416920 | Human | 2 | name |
| 13468808 | CV471696 | single nucleotide variant | NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) | Developmental and epileptic encephalopathy, 30 [RCV001084738]|Inborn genetic diseases [RCV002315032]|not provided [RCV000559968] | benign | 21 | 43419195 | 43419195 | Human | 2 | name |
| 13464623 | CV471700 | single nucleotide variant | NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) | Developmental and epileptic encephalopathy, 30 [RCV000543156]|Inborn genetic diseases [RCV002413635] | uncertain significance | 21 | 43419224 | 43419224 | Human | 2 | name |
| 13532706 | CV512495 | single nucleotide variant | NM_173354.5(SIK1):c.1828C>T (p.Arg610Cys) | Developmental and epileptic encephalopathy, 30 [RCV001868150]|Inborn genetic diseases [RCV000624457] | uncertain significance | 21 | 43417691 | 43417691 | Human | 2 | name |
| 13625229 | CV533909 | single nucleotide variant | NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) | Developmental and epileptic encephalopathy, 30 [RCV000653187]|not provided [RCV003437385] | uncertain significance | 21 | 43418433 | 43418433 | Human | 1 | name |
| 13625234 | CV533912 | single nucleotide variant | NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) | Developmental and epileptic encephalopathy, 30 [RCV000653192] | conflicting interpretations of pathogenicity|uncertain significance | 21 | 43417585 | 43417585 | Human | 1 | name |
| 13625281 | CV533913 | single nucleotide variant | NM_173354.5(SIK1):c.1418C>A (p.Thr473Asn) | Developmental and epileptic encephalopathy, 30 [RCV000653185] | uncertain significance | 21 | 43419065 | 43419065 | Human | 1 | name |
| 13625228 | CV533915 | single nucleotide variant | NM_173354.5(SIK1):c.1379C>T (p.Thr460Met) | Developmental and epileptic encephalopathy, 30 [RCV000653186] | benign|uncertain significance | 21 | 43419104 | 43419104 | Human | 1 | name |
| 13625231 | CV533917 | single nucleotide variant | NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) | Developmental and epileptic encephalopathy, 30 [RCV000653189]|Inborn genetic diseases [RCV002315979]|not provided [RCV004584786] | benign|likely benign|uncertain significance | 21 | 43418451 | 43418451 | Human | 2 | name |
| 13625232 | CV533922 | single nucleotide variant | NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg) | Developmental and epileptic encephalopathy, 30 [RCV000653190]|not provided [RCV001508001] | uncertain significance | 21 | 43419379 | 43419379 | Human | 1 | name |
| 13625222 | CV533927 | single nucleotide variant | NM_173354.5(SIK1):c.1069G>A (p.Gly357Arg) | Developmental and epileptic encephalopathy, 30 [RCV000653180] | likely benign|uncertain significance | 21 | 43419909 | 43419909 | Human | 1 | name |
| 13625230 | CV533929 | single nucleotide variant | NM_173354.5(SIK1):c.1064G>A (p.Arg355His) | Developmental and epileptic encephalopathy, 30 [RCV000653188]|Inborn genetic diseases [RCV002315978]|not provided [RCV002060776] | benign|likely benign|uncertain significance | 21 | 43419914 | 43419914 | Human | 2 | name |
| 13625226 | CV533975 | single nucleotide variant | NM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys) | Developmental and epileptic encephalopathy, 30 [RCV000653184] | likely benign|uncertain significance | 21 | 43419935 | 43419935 | Human | 1 | name |
| 13811863 | CV571580 | single nucleotide variant | NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr) | Developmental and epileptic encephalopathy, 30 [RCV000689045] | uncertain significance | 21 | 43416801 | 43416801 | Human | 1 | name |
| 13811884 | CV571583 | single nucleotide variant | NM_173354.5(SIK1):c.2074C>G (p.Pro692Ala) | Developmental and epileptic encephalopathy, 30 [RCV000689060] | uncertain significance | 21 | 43417020 | 43417020 | Human | 1 | name |
| 13817335 | CV571587 | single nucleotide variant | NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala) | Developmental and epileptic encephalopathy, 30 [RCV000692954]|Inborn genetic diseases [RCV004025139] | benign|likely benign|uncertain significance | 21 | 43419113 | 43419113 | Human | 2 | name |
| 13806726 | CV571591 | single nucleotide variant | NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln) | Developmental and epileptic encephalopathy, 30 [RCV000686120]|Inborn genetic diseases [RCV002458202] | likely benign|uncertain significance | 21 | 43419884 | 43419884 | Human | 2 | name |
| 13818860 | CV573815 | single nucleotide variant | NM_173354.5(SIK1):c.2108C>T (p.Thr703Met) | Developmental and epileptic encephalopathy, 30 [RCV000693990] | benign|uncertain significance | 21 | 43416986 | 43416986 | Human | 1 | name |
| 13806334 | CV573817 | single nucleotide variant | NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr) | Developmental and epileptic encephalopathy, 30 [RCV000700529]|Inborn genetic diseases [RCV002406620]|not provided [RCV004692164] | likely benign|uncertain significance | 21 | 43417676 | 43417676 | Human | 2 | name |
| 13818346 | CV573824 | single nucleotide variant | NM_173354.5(SIK1):c.1031G>A (p.Arg344Gln) | Developmental and epileptic encephalopathy, 30 [RCV000693649] | uncertain significance | 21 | 43419947 | 43419947 | Human | 1 | name |
| 13814882 | CV575174 | single nucleotide variant | NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) | Developmental and epileptic encephalopathy, 30 [RCV000691190] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 43418466 | 43418466 | Human | 1 | name |
| 13821606 | CV575175 | single nucleotide variant | NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) | Developmental and epileptic encephalopathy, 30 [RCV000696137] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 43419026 | 43419026 | Human | 1 | name |
| 13807903 | CV575176 | single nucleotide variant | NM_173354.5(SIK1):c.1393C>T (p.Pro465Ser) | Developmental and epileptic encephalopathy, 30 [RCV000701386] | uncertain significance | 21 | 43419090 | 43419090 | Human | 1 | name |
| 13801451 | CV577896 | single nucleotide variant | NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) | Developmental and epileptic encephalopathy, 30 [RCV000990352]|Inborn genetic diseases [RCV002312250]|not provided [RCV000713289]|not specified [RCV004597868] | benign | 21 | 43417675 | 43417675 | Human | 2 | name |
| 13829106 | CV580479 | single nucleotide variant | NM_173354.5(SIK1):c.2104C>A (p.Leu702Ile) | Inborn genetic diseases [RCV002314526] | uncertain significance | 21 | 43416990 | 43416990 | Human | 1 | name |
| 13828733 | CV580484 | single nucleotide variant | NM_173354.5(SIK1):c.2011C>T (p.Pro671Ser) | Inborn genetic diseases [RCV002316024] | uncertain significance | 21 | 43417083 | 43417083 | Human | 1 | name |
| 13830736 | CV580589 | single nucleotide variant | NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) | Developmental and epileptic encephalopathy, 30 [RCV001034152]|Inborn genetic diseases [RCV002318327]|not provided [RCV004721577] | benign|likely benign | 21 | 43417035 | 43417035 | Human | 2 | name |
| 13829707 | CV580596 | single nucleotide variant | NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro) | Developmental and epileptic encephalopathy, 30 [RCV001369004]|Inborn genetic diseases [RCV002318012]|not provided [RCV004692209] | uncertain significance | 21 | 43417061 | 43417061 | Human | 2 | name |
| 13828937 | CV580597 | single nucleotide variant | NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) | Developmental and epileptic encephalopathy, 30 [RCV000954028]|Inborn genetic diseases [RCV002316174]|not provided [RCV003437409] | benign|likely benign | 21 | 43419183 | 43419183 | Human | 2 | name |
| 13829699 | CV580638 | single nucleotide variant | NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser) | Developmental and epileptic encephalopathy, 30 [RCV001039542]|Inborn genetic diseases [RCV002318006] | likely benign|uncertain significance | 21 | 43416885 | 43416885 | Human | 2 | name |
| 13830458 | CV580642 | single nucleotide variant | NM_173354.5(SIK1):c.1403C>T (p.Thr468Met) | Developmental and epileptic encephalopathy, 30 [RCV001043301]|Inborn genetic diseases [RCV002317577] | likely benign|uncertain significance | 21 | 43419080 | 43419080 | Human | 2 | name |
| 13830612 | CV580722 | single nucleotide variant | NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu) | Developmental and epileptic encephalopathy, 30 [RCV002534980]|Inborn genetic diseases [RCV002318206] | likely benign|uncertain significance | 21 | 43416869 | 43416869 | Human | 2 | name |
| 13829235 | CV580723 | single nucleotide variant | NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser) | Developmental and epileptic encephalopathy, 30 [RCV001862039]|Inborn genetic diseases [RCV002313521] | likely benign|uncertain significance | 21 | 43417008 | 43417008 | Human | 2 | name |
| 13830583 | CV580726 | single nucleotide variant | NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu) | Developmental and epileptic encephalopathy, 30 [RCV001057377]|Inborn genetic diseases [RCV002318178] | likely benign|uncertain significance | 21 | 43417046 | 43417046 | Human | 2 | name |
| 13830399 | CV580734 | single nucleotide variant | NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) | Developmental and epileptic encephalopathy, 30 [RCV001034283]|Inborn genetic diseases [RCV002317521] | benign|likely benign|uncertain significance | 21 | 43417089 | 43417089 | Human | 2 | name |
| 13829188 | CV580736 | single nucleotide variant | NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) | Developmental and epileptic encephalopathy, 30 [RCV000792606]|Inborn genetic diseases [RCV002313469] | uncertain significance | 21 | 43419444 | 43419444 | Human | 2 | name |
| 13830532 | CV580739 | single nucleotide variant | NM_173354.5(SIK1):c.1046G>A (p.Arg349Gln) | Developmental and epileptic encephalopathy, 30 [RCV001862078]|Inborn genetic diseases [RCV002318129] | uncertain significance | 21 | 43419932 | 43419932 | Human | 2 | name |
| 14710297 | CV650484 | single nucleotide variant | NM_173354.5(SIK1):c.1198G>T (p.Val400Phe) | Developmental and epileptic encephalopathy, 30 [RCV000814099]|Inborn genetic diseases [RCV002345858]|not provided [RCV001532456] | likely benign|uncertain significance | 21 | 43419400 | 43419400 | Human | 2 | name |
| 14705640 | CV650485 | single nucleotide variant | NM_173354.5(SIK1):c.1208C>G (p.Ala403Gly) | Developmental and epileptic encephalopathy, 30 [RCV000801484] | uncertain significance | 21 | 43419390 | 43419390 | Human | 1 | name |
| 14704356 | CV650488 | single nucleotide variant | NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln) | Developmental and epileptic encephalopathy, 30 [RCV000797209]|Inborn genetic diseases [RCV004027588] | likely benign|uncertain significance | 21 | 43419194 | 43419194 | Human | 2 | name |
| 14706063 | CV650489 | single nucleotide variant | NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu) | Developmental and epileptic encephalopathy, 30 [RCV000802912]|Inborn genetic diseases [RCV002386434] | likely benign|uncertain significance | 21 | 43419128 | 43419128 | Human | 2 | name |
| 14711024 | CV650491 | single nucleotide variant | NM_173354.5(SIK1):c.1568C>T (p.Thr523Ile) | Developmental and epileptic encephalopathy, 30 [RCV000816343] | uncertain significance | 21 | 43418436 | 43418436 | Human | 1 | name |
| 14711295 | CV650493 | single nucleotide variant | NM_173354.5(SIK1):c.1628T>C (p.Leu543Pro) | Developmental and epileptic encephalopathy, 30 [RCV000817324] | likely benign|uncertain significance | 21 | 43418376 | 43418376 | Human | 1 | name |
| 14704383 | CV650494 | single nucleotide variant | NM_173354.5(SIK1):c.1870G>A (p.Gly624Ser) | Developmental and epileptic encephalopathy, 30 [RCV000797255] | uncertain significance | 21 | 43417649 | 43417649 | Human | 1 | name |
| 14710963 | CV650495 | single nucleotide variant | NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser) | Developmental and epileptic encephalopathy, 30 [RCV000816229]|not provided [RCV004808892] | likely benign|uncertain significance | 21 | 43417604 | 43417604 | Human | 1 | name |
| 14713202 | CV650496 | single nucleotide variant | NM_173354.5(SIK1):c.1918G>A (p.Gly640Ser) | Developmental and epileptic encephalopathy, 30 [RCV000822965]|Inborn genetic diseases [RCV005278679] | likely benign|uncertain significance | 21 | 43417601 | 43417601 | Human | 2 | name |
| 14706135 | CV650499 | single nucleotide variant | NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg) | Developmental and epileptic encephalopathy, 30 [RCV000803098] | uncertain significance | 21 | 43416962 | 43416962 | Human | 1 | name |
| 15146020 | CV694637 | single nucleotide variant | NM_173354.5(SIK1):c.1309A>G (p.Ser437Gly) | Developmental and epileptic encephalopathy, 30 [RCV000878479] | likely benign | 21 | 43419174 | 43419174 | Human | 1 | name |
| 15152490 | CV705720 | single nucleotide variant | NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu) | Developmental and epileptic encephalopathy, 30 [RCV000945893]|Inborn genetic diseases [RCV002454174] | likely benign | 21 | 43419878 | 43419878 | Human | 2 | name |
| 15109782 | CV717229 | single nucleotide variant | NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) | Developmental and epileptic encephalopathy, 30 [RCV000960770]|Inborn genetic diseases [RCV004029892] | likely benign|conflicting interpretations of pathogenicity | 21 | 43416935 | 43416935 | Human | 2 | name |
| 15203141 | CV757841 | single nucleotide variant | NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr) | Developmental and epileptic encephalopathy, 30 [RCV000913745] | benign | 21 | 43416867 | 43416867 | Human | 1 | name |
| 21067909 | CV793855 | single nucleotide variant | NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu) | Developmental and epileptic encephalopathy, 30 [RCV002549821]|Inborn genetic diseases [RCV004958355]|not provided [RCV000992982] | uncertain significance | 21 | 43419893 | 43419893 | Human | 2 | name |
| 21068213 | CV798030 | single nucleotide variant | NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly) | Developmental and epileptic encephalopathy, 30 [RCV001058555]|not provided [RCV000997833] | likely benign|uncertain significance | 21 | 43416774 | 43416774 | Human | 1 | name |
| 21405298 | CV800783 | single nucleotide variant | NM_173354.5(SIK1):c.2191C>T (p.His731Tyr) | Developmental and epileptic encephalopathy, 30 [RCV001367566]|Seizure [RCV001003369] | likely benign|uncertain significance | 21 | 43416903 | 43416903 | Human | 3 | name |
| 26897189 | CV822187 | single nucleotide variant | NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg) | Developmental and epileptic encephalopathy, 30 [RCV001034029] | benign | 21 | 43416872 | 43416872 | Human | 1 | name |
| 26897553 | CV822188 | single nucleotide variant | NM_173354.5(SIK1):c.2045C>T (p.Ala682Val) | Developmental and epileptic encephalopathy, 30 [RCV001034204] | benign | 21 | 43417049 | 43417049 | Human | 1 | name |
| 26897104 | CV822189 | single nucleotide variant | NM_173354.5(SIK1):c.2034G>T (p.Gln678His) | Developmental and epileptic encephalopathy, 30 [RCV001033991]|Inborn genetic diseases [RCV002416318]|not provided [RCV002067716] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 21 | 43417060 | 43417060 | Human | 2 | name |
| 26897222 | CV822190 | single nucleotide variant | NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile) | Developmental and epileptic encephalopathy, 30 [RCV001034041]|Inborn genetic diseases [RCV003346254] | likely benign | 21 | 43418265 | 43418265 | Human | 2 | name |
| 26897266 | CV822191 | single nucleotide variant | NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser) | Developmental and epileptic encephalopathy, 30 [RCV001034067] | benign | 21 | 43418410 | 43418410 | Human | 1 | name |
| 26898161 | CV822192 | single nucleotide variant | NM_173354.5(SIK1):c.1475C>T (p.Ser492Phe) | Developmental and epileptic encephalopathy, 30 [RCV001034434] | likely benign | 21 | 43418529 | 43418529 | Human | 1 | name |
| 26897948 | CV822193 | single nucleotide variant | NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) | Developmental and epileptic encephalopathy, 30 [RCV001034368] | likely benign|conflicting interpretations of pathogenicity | 21 | 43418541 | 43418541 | Human | 1 | name |
| 26897163 | CV822194 | single nucleotide variant | NM_173354.5(SIK1):c.1462T>G (p.Cys488Gly) | Developmental and epileptic encephalopathy, 30 [RCV001034018] | likely benign | 21 | 43419021 | 43419021 | Human | 1 | name |
| 26897493 | CV822195 | single nucleotide variant | NM_173354.5(SIK1):c.1424C>T (p.Ala475Val) | Developmental and epileptic encephalopathy, 30 [RCV001034175] | likely benign | 21 | 43419059 | 43419059 | Human | 1 | name |
| 26897328 | CV822196 | single nucleotide variant | NM_173354.5(SIK1):c.1300G>A (p.Val434Met) | Developmental and epileptic encephalopathy, 30 [RCV001034092]|Inborn genetic diseases [RCV002382262] | likely benign | 21 | 43419183 | 43419183 | Human | 2 | name |
| 26898267 | CV822197 | single nucleotide variant | NM_173354.5(SIK1):c.1144G>A (p.Asp382Asn) | Developmental and epileptic encephalopathy, 30 [RCV001034469] | likely benign | 21 | 43419454 | 43419454 | Human | 1 | name |
| 26897071 | CV822198 | single nucleotide variant | NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) | Developmental and epileptic encephalopathy, 30 [RCV001033973]|Inborn genetic diseases [RCV002552047]|not provided [RCV001287960] | likely benign|uncertain significance | 21 | 43419890 | 43419890 | Human | 2 | name |
| 26898116 | CV822199 | single nucleotide variant | NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr) | Developmental and epileptic encephalopathy, 30 [RCV001034421] | benign | 21 | 43419918 | 43419918 | Human | 1 | name |
| 26921990 | CV848822 | single nucleotide variant | NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser) | Developmental and epileptic encephalopathy, 30 [RCV001061491] | uncertain significance | 21 | 43416822 | 43416822 | Human | 1 | name |
| 26915523 | CV848823 | single nucleotide variant | NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr) | Developmental and epileptic encephalopathy, 30 [RCV001055769] | benign|uncertain significance | 21 | 43416876 | 43416876 | Human | 1 | name |
| 26906018 | CV848824 | single nucleotide variant | NM_173354.5(SIK1):c.2161G>T (p.Val721Leu) | Developmental and epileptic encephalopathy, 30 [RCV001051514] | uncertain significance | 21 | 43416933 | 43416933 | Human | 1 | name |
| 26917698 | CV848825 | single nucleotide variant | NM_173354.5(SIK1):c.2000C>T (p.Pro667Leu) | Developmental and epileptic encephalopathy, 30 [RCV001042815]|not provided [RCV004693491] | uncertain significance | 21 | 43417094 | 43417094 | Human | 1 | name |
| 26897469 | CV848826 | single nucleotide variant | NM_173354.5(SIK1):c.1989A>C (p.Leu663Phe) | Developmental and epileptic encephalopathy, 30 [RCV001048558]|Inborn genetic diseases [RCV004031515] | uncertain significance | 21 | 43417105 | 43417105 | Human | 2 | name |
| 26898784 | CV848827 | single nucleotide variant | NM_173354.5(SIK1):c.1888G>A (p.Ala630Thr) | Developmental and epileptic encephalopathy, 30 [RCV001049016] | uncertain significance | 21 | 43417631 | 43417631 | Human | 1 | name |
| 26886061 | CV848828 | single nucleotide variant | NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) | Developmental and epileptic encephalopathy, 30 [RCV001043950] | benign|uncertain significance | 21 | 43417687 | 43417687 | Human | 1 | name |
| 26922007 | CV848829 | single nucleotide variant | NM_173354.5(SIK1):c.1594G>A (p.Ala532Thr) | Developmental and epileptic encephalopathy, 30 [RCV001061501] | likely benign|uncertain significance | 21 | 43418410 | 43418410 | Human | 1 | name |
| 26913010 | CV848830 | single nucleotide variant | NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro) | Developmental and epileptic encephalopathy, 30 [RCV001039763]|Inborn genetic diseases [RCV002391113]|not provided [RCV001171964] | likely benign|uncertain significance | 21 | 43418452 | 43418452 | Human | 2 | name |
| 26914176 | CV848831 | single nucleotide variant | NM_173354.5(SIK1):c.1552G>A (p.Ala518Thr) | Developmental and epileptic encephalopathy, 30 [RCV001054775] | likely benign|uncertain significance | 21 | 43418452 | 43418452 | Human | 1 | name |
| 26900649 | CV848832 | single nucleotide variant | NM_173354.5(SIK1):c.1487C>T (p.Thr496Met) | Developmental and epileptic encephalopathy, 30 [RCV001049620] | uncertain significance | 21 | 43418517 | 43418517 | Human | 1 | name |
| 26921793 | CV848833 | single nucleotide variant | NM_173354.5(SIK1):c.1439G>A (p.Arg480His) | Developmental and epileptic encephalopathy, 30 [RCV001061304]|Inborn genetic diseases [RCV005268893] | likely benign|uncertain significance | 21 | 43419044 | 43419044 | Human | 2 | name |
| 26917679 | CV848834 | single nucleotide variant | NM_173354.5(SIK1):c.1424C>G (p.Ala475Gly) | Developmental and epileptic encephalopathy, 30 [RCV001057184] | uncertain significance | 21 | 43419059 | 43419059 | Human | 1 | name |
| 26912106 | CV848835 | single nucleotide variant | NM_173354.5(SIK1):c.1415A>T (p.His472Leu) | Developmental and epileptic encephalopathy, 30 [RCV001038968]|Inborn genetic diseases [RCV004963008] | uncertain significance | 21 | 43419068 | 43419068 | Human | 2 | name |
| 26923624 | CV848836 | single nucleotide variant | NM_173354.5(SIK1):c.1388C>G (p.Ser463Cys) | Developmental and epileptic encephalopathy, 30 [RCV001064332]|Inborn genetic diseases [RCV004960414] | uncertain significance | 21 | 43419095 | 43419095 | Human | 2 | name |
| 26917086 | CV848837 | single nucleotide variant | NM_173354.5(SIK1):c.1312A>G (p.Ser438Gly) | Developmental and epileptic encephalopathy, 30 [RCV001056761] | uncertain significance | 21 | 43419171 | 43419171 | Human | 1 | name |
| 26907537 | CV848838 | single nucleotide variant | NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) | Developmental and epileptic encephalopathy, 30 [RCV001052270]|Inborn genetic diseases [RCV002379555]|not provided [RCV001532455] | likely benign|uncertain significance | 21 | 43419189 | 43419189 | Human | 2 | name |
| 26914996 | CV848839 | single nucleotide variant | NM_173354.5(SIK1):c.1218C>G (p.Asp406Glu) | Developmental and epileptic encephalopathy, 30 [RCV001055367] | uncertain significance | 21 | 43419380 | 43419380 | Human | 1 | name |
| 26912152 | CV848840 | single nucleotide variant | NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu) | Developmental and epileptic encephalopathy, 30 [RCV001039028]|Inborn genetic diseases [RCV002551434] | likely benign|uncertain significance | 21 | 43419426 | 43419426 | Human | 2 | name |
| 26886375 | CV848841 | single nucleotide variant | NM_173354.5(SIK1):c.1105C>T (p.Leu369Phe) | Developmental and epileptic encephalopathy, 30 [RCV001044185]|Inborn genetic diseases [RCV002552546] | uncertain significance | 21 | 43419873 | 43419873 | Human | 2 | name |
| 38459911 | CV919937 | single nucleotide variant | NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) | Developmental and epileptic encephalopathy, 30 [RCV001196198]|not provided [RCV002275303] | uncertain significance | 21 | 43419053 | 43419053 | Human | 1 | name |
| 38481532 | CV929332 | single nucleotide variant | NM_173354.5(SIK1):c.2153C>T (p.Ala718Val) | Developmental and epileptic encephalopathy, 30 [RCV001218048] | uncertain significance | 21 | 43416941 | 43416941 | Human | 1 | name |
| 38487084 | CV929333 | single nucleotide variant | NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu) | Developmental and epileptic encephalopathy, 30 [RCV001220600]|not specified [RCV003226445] | uncertain significance | 21 | 43416974 | 43416974 | Human | 1 | name |
| 38485530 | CV929334 | single nucleotide variant | NM_173354.5(SIK1):c.2052T>A (p.Phe684Leu) | Developmental and epileptic encephalopathy, 30 [RCV001219898] | uncertain significance | 21 | 43417042 | 43417042 | Human | 1 | name |
| 38488769 | CV929335 | single nucleotide variant | NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser) | Developmental and epileptic encephalopathy, 30 [RCV001221397]|not provided [RCV001311574] | likely benign|uncertain significance | 21 | 43417592 | 43417592 | Human | 1 | name |
| 38482553 | CV929336 | single nucleotide variant | NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln) | Developmental and epileptic encephalopathy, 30 [RCV001218516]|Inborn genetic diseases [RCV002562456] | likely benign|uncertain significance | 21 | 43417663 | 43417663 | Human | 2 | name |
| 38485693 | CV929337 | single nucleotide variant | NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu) | Developmental and epileptic encephalopathy, 30 [RCV001219908]|Inborn genetic diseases [RCV002402658] | likely benign|uncertain significance | 21 | 43418385 | 43418385 | Human | 2 | name |
| 38484592 | CV929338 | single nucleotide variant | NM_173354.5(SIK1):c.1205A>C (p.Gln402Pro) | Developmental and epileptic encephalopathy, 30 [RCV001219497] | uncertain significance | 21 | 43419393 | 43419393 | Human | 1 | name |
| 38481826 | CV929339 | single nucleotide variant | NM_173354.5(SIK1):c.1178C>T (p.Pro393Leu) | Developmental and epileptic encephalopathy, 30 [RCV001218183] | uncertain significance | 21 | 43419420 | 43419420 | Human | 1 | name |
| 38493735 | CV929340 | single nucleotide variant | NM_173354.5(SIK1):c.1139C>G (p.Ser380Cys) | Developmental and epileptic encephalopathy, 30 [RCV001224479] | uncertain significance | 21 | 43419459 | 43419459 | Human | 1 | name |
| 38476050 | CV929341 | single nucleotide variant | NM_173354.5(SIK1):c.1093C>T (p.Arg365Trp) | Developmental and epileptic encephalopathy, 30 [RCV001215464] | uncertain significance | 21 | 43419885 | 43419885 | Human | 1 | name |
| 38488481 | CV939124 | single nucleotide variant | NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys) | Developmental and epileptic encephalopathy, 30 [RCV001209770] | likely benign|uncertain significance | 21 | 43416789 | 43416789 | Human | 1 | name |
| 38471390 | CV939126 | single nucleotide variant | NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu) | Developmental and epileptic encephalopathy, 30 [RCV001202826]|Inborn genetic diseases [RCV004671247] | uncertain significance | 21 | 43417082 | 43417082 | Human | 2 | name |
| 38472525 | CV939127 | single nucleotide variant | NM_173354.5(SIK1):c.1932C>G (p.Ser644Arg) | Developmental and epileptic encephalopathy, 30 [RCV001203202]|Inborn genetic diseases [RCV004963180] | uncertain significance | 21 | 43417587 | 43417587 | Human | 2 | name |
| 38473460 | CV939128 | single nucleotide variant | NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser) | Developmental and epileptic encephalopathy, 30 [RCV001203465]|not provided [RCV003326551] | likely benign|uncertain significance | 21 | 43417598 | 43417598 | Human | 1 | name |
| 38482711 | CV939129 | single nucleotide variant | NM_173354.5(SIK1):c.1849G>A (p.Ala617Thr) | Developmental and epileptic encephalopathy, 30 [RCV001207379]|Inborn genetic diseases [RCV005278759] | likely benign|uncertain significance | 21 | 43417670 | 43417670 | Human | 2 | name |
| 38476990 | CV939130 | single nucleotide variant | NM_173354.5(SIK1):c.1833G>T (p.Gln611His) | Developmental and epileptic encephalopathy, 30 [RCV001204891] | uncertain significance | 21 | 43417686 | 43417686 | Human | 1 | name |
| 38483959 | CV939131 | single nucleotide variant | NM_173354.5(SIK1):c.1538C>G (p.Ala513Gly) | Developmental and epileptic encephalopathy, 30 [RCV001207846] | uncertain significance | 21 | 43418466 | 43418466 | Human | 1 | name |
| 38468235 | CV939132 | single nucleotide variant | NM_173354.5(SIK1):c.1373A>G (p.Gln458Arg) | Developmental and epileptic encephalopathy, 30 [RCV001213103] | uncertain significance | 21 | 43419110 | 43419110 | Human | 1 | name |
| 38474666 | CV951244 | single nucleotide variant | NM_173354.5(SIK1):c.1538C>A (p.Ala513Glu) | Developmental and epileptic encephalopathy, 30 [RCV001232312] | uncertain significance | 21 | 43418466 | 43418466 | Human | 1 | name |
| 38487150 | CV951245 | single nucleotide variant | NM_173354.5(SIK1):c.1535C>T (p.Ser512Phe) | Developmental and epileptic encephalopathy, 30 [RCV001237453] | uncertain significance | 21 | 43418469 | 43418469 | Human | 1 | name |
| 38479181 | CV951246 | duplication | NM_173354.5(SIK1):c.1515dup (p.Asp506Ter) | Developmental and epileptic encephalopathy, 30 [RCV001234176] | uncertain significance | 21 | 43418488 | 43418489 | Human | 1 | name |
| 38498733 | CV951247 | single nucleotide variant | NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu) | Developmental and epileptic encephalopathy, 30 [RCV001227940]|Inborn genetic diseases [RCV002393559]|not provided [RCV003332309] | uncertain significance | 21 | 43418499 | 43418499 | Human | 2 | name |
| 38462713 | CV951248 | single nucleotide variant | NM_173354.5(SIK1):c.1198G>A (p.Val400Ile) | Developmental and epileptic encephalopathy, 30 [RCV001229749] | uncertain significance | 21 | 43419400 | 43419400 | Human | 1 | name |
| 38477823 | CV951249 | single nucleotide variant | NM_173354.5(SIK1):c.1152C>G (p.Phe384Leu) | Developmental and epileptic encephalopathy, 30 [RCV001233643] | uncertain significance | 21 | 43419446 | 43419446 | Human | 1 | name |
| 38495888 | CV951250 | single nucleotide variant | NM_173354.5(SIK1):c.1147C>G (p.Pro383Ala) | Developmental and epileptic encephalopathy, 30 [RCV001226028]|Inborn genetic diseases [RCV004960585] | likely benign|uncertain significance | 21 | 43419451 | 43419451 | Human | 2 | name |
| 38462688 | CV958967 | single nucleotide variant | NM_173354.5(SIK1):c.1885C>T (p.His629Tyr) | Developmental and epileptic encephalopathy, 30 [RCV001247179] | uncertain significance | 21 | 43417634 | 43417634 | Human | 1 | name |
| 38499788 | CV958968 | single nucleotide variant | NM_173354.5(SIK1):c.1834G>A (p.Val612Met) | Developmental and epileptic encephalopathy, 30 [RCV001245082] | uncertain significance | 21 | 43417685 | 43417685 | Human | 1 | name |
| 38469834 | CV958969 | single nucleotide variant | NM_173354.5(SIK1):c.1781C>T (p.Thr594Met) | Developmental and epileptic encephalopathy, 30 [RCV001248297]|Inborn genetic diseases [RCV002411913] | uncertain significance | 21 | 43417738 | 43417738 | Human | 2 | name |
| 40886806 | CV974218 | single nucleotide variant | NM_173354.5(SIK1):c.1063C>T (p.Arg355Cys) | Developmental and epileptic encephalopathy, 30 [RCV002537683]|Inborn genetic diseases [RCV001266053] | uncertain significance | 21 | 43419915 | 43419915 | Human | 2 | name |
| 126733167 | CV999222 | single nucleotide variant | NM_173354.5(SIK1):c.2179C>T (p.Leu727Phe) | Developmental and epileptic encephalopathy, 30 [RCV001304220] | uncertain significance | 21 | 43416915 | 43416915 | Human | 1 | name |
| 126761408 | CV999223 | single nucleotide variant | NM_173354.5(SIK1):c.2165C>A (p.Ala722Asp) | Developmental and epileptic encephalopathy, 30 [RCV001300081] | uncertain significance | 21 | 43416929 | 43416929 | Human | 1 | name |
| 126736609 | CV999224 | single nucleotide variant | NM_173354.5(SIK1):c.1999C>A (p.Pro667Thr) | Developmental and epileptic encephalopathy, 30 [RCV001295243] | uncertain significance | 21 | 43417095 | 43417095 | Human | 1 | name |
| 126743378 | CV999225 | single nucleotide variant | NM_173354.5(SIK1):c.1988T>C (p.Leu663Ser) | Developmental and epileptic encephalopathy, 30 [RCV001296179] | uncertain significance | 21 | 43417106 | 43417106 | Human | 1 | name |
| 126745326 | CV999226 | single nucleotide variant | NM_173354.5(SIK1):c.1877G>T (p.Ser626Ile) | Developmental and epileptic encephalopathy, 30 [RCV001305968] | uncertain significance | 21 | 43417642 | 43417642 | Human | 1 | name |
| 126735188 | CV999227 | single nucleotide variant | NM_173354.5(SIK1):c.1693C>T (p.Pro565Ser) | Developmental and epileptic encephalopathy, 30 [RCV001295041] | uncertain significance | 21 | 43418311 | 43418311 | Human | 1 | name |
| 126727416 | CV999228 | single nucleotide variant | NM_173354.5(SIK1):c.1283T>G (p.Val428Gly) | Developmental and epileptic encephalopathy, 30 [RCV001303148] | uncertain significance | 21 | 43419200 | 43419200 | Human | 1 | name |
| 126734084 | CV999229 | single nucleotide variant | NM_173354.5(SIK1):c.1231A>G (p.Ser411Gly) | Developmental and epileptic encephalopathy, 30 [RCV001304377] | uncertain significance | 21 | 43419367 | 43419367 | Human | 1 | name |