ClinVar Miner

List of variants in gene CASK reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001367721.1(CASK):c.356+6T>C rs200402760 0.00022
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly) rs759161435 0.00005
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_001367721.1(CASK):c.974C>A (p.Pro325His) rs760139497 0.00005
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001367721.1(CASK):c.1076C>T (p.Ala359Val) rs762180439 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) rs138646715 0.00003
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) rs755594972 0.00003
NM_001367721.1(CASK):c.1117A>G (p.Ser373Gly) rs770423990 0.00002
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945 0.00002
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.1805C>T (p.Ser602Leu) rs868537608 0.00002
NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala) rs775963628 0.00002
NM_001367721.1(CASK):c.1088G>A (p.Cys363Tyr) rs771782394 0.00001
NM_001367721.1(CASK):c.1098G>T (p.Lys366Asn) rs1205947875 0.00001
NM_001367721.1(CASK):c.1210G>A (p.Asp404Asn) rs762462874 0.00001
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1432G>A (p.Gly478Arg) rs771717545 0.00001
NM_001367721.1(CASK):c.1436A>G (p.Asp479Gly) rs1141273 0.00001
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly) rs1409442804 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.1587A>G (p.Thr529=) rs1243353784 0.00001
NM_001367721.1(CASK):c.159G>T (p.Gly53=) rs761946846 0.00001
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) rs900079494 0.00001
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) rs1168108458 0.00001
NM_001367721.1(CASK):c.2048C>T (p.Ala683Val) rs767030499 0.00001
NM_001367721.1(CASK):c.2155+4G>A rs749155089 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) rs760957859 0.00001
NM_001367721.1(CASK):c.2375C>T (p.Ser792Phe) rs2064797874 0.00001
NM_001367721.1(CASK):c.2390T>C (p.Met797Thr) rs771473384 0.00001
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) rs751235198 0.00001
NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu) rs774433205 0.00001
NM_001367721.1(CASK):c.2501T>C (p.Ile834Thr) rs1372580366 0.00001
NM_001367721.1(CASK):c.2509G>A (p.Val837Met) rs768962946 0.00001
NM_001367721.1(CASK):c.2588C>T (p.Thr863Ile) rs966502877 0.00001
NM_001367721.1(CASK):c.2621G>A (p.Arg874His) rs754713652 0.00001
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe) rs777220099 0.00001
NM_001367721.1(CASK):c.2737G>A (p.Val913Met) rs374765049 0.00001
NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys) rs748918088 0.00001
NM_001367721.1(CASK):c.279T>C (p.Phe93=) rs1556042440 0.00001
NM_001367721.1(CASK):c.524T>C (p.Val175Ala) rs781247892 0.00001
NM_001367721.1(CASK):c.656T>C (p.Phe219Ser) rs1189980578 0.00001
NM_001367721.1(CASK):c.661G>A (p.Gly221Arg) rs1256169792 0.00001
NM_001367721.1(CASK):c.709-6C>G rs780772643 0.00001
NM_001367721.1(CASK):c.831+4C>A rs1275463774 0.00001
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) rs1361659361 0.00001
GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3
GRCh37/hg19 Xp11.4(chrX:41439326-41538706)x3
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1
GRCh37/hg19 Xp11.4(chrX:41760334-42078539)x3
NC_000023.10:g.(?_41379673)_(41420907_?)dup
NC_000023.10:g.(?_41393939)_(41420917_?)dup
NC_000023.10:g.(?_41446140)_(41446260_?)del
NC_000023.10:g.(?_41446140)_(41530803_?)dup
NC_000023.10:g.(?_41712348)_(41782241_?)dup
NC_000023.11:g.(?_41520400)_(41665472_?)dup
NM_001367721.1(CASK):c.*1317G>A
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala)
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val) rs2066303451
NM_001367721.1(CASK):c.1033+7A>G
NM_001367721.1(CASK):c.1036G>A (p.Ala346Thr) rs2147279563
NM_001367721.1(CASK):c.1046A>G (p.Gln349Arg)
NM_001367721.1(CASK):c.104G>A (p.Gly35Glu) rs1485547629
NM_001367721.1(CASK):c.1081A>G (p.Thr361Ala)
NM_001367721.1(CASK):c.1094A>G (p.Glu365Gly) rs2147279282
NM_001367721.1(CASK):c.1108T>A (p.Phe370Ile) rs2147279219
NM_001367721.1(CASK):c.1114C>T (p.His372Tyr) rs2147279206
NM_001367721.1(CASK):c.1116C>G (p.His372Gln)
NM_001367721.1(CASK):c.1127A>G (p.Gln376Arg)
NM_001367721.1(CASK):c.1136A>G (p.His379Arg)
NM_001367721.1(CASK):c.1155+2dup
NM_001367721.1(CASK):c.1159T>C (p.Tyr387His)
NM_001367721.1(CASK):c.1168A>C (p.Ile390Leu) rs2147231422
NM_001367721.1(CASK):c.1186C>G (p.Pro396Ala)
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.1238T>C (p.Leu413Ser) rs2147224451
NM_001367721.1(CASK):c.1241A>C (p.Glu414Ala)
NM_001367721.1(CASK):c.1253G>A (p.Cys418Tyr)
NM_001367721.1(CASK):c.1258C>T (p.Pro420Ser) rs2065666644
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.1270G>A (p.Asp424Asn)
NM_001367721.1(CASK):c.1273G>A (p.Ala425Thr) rs1064796207
NM_001367721.1(CASK):c.1279G>A (p.Glu427Lys)
NM_001367721.1(CASK):c.1294T>G (p.Leu432Val)
NM_001367721.1(CASK):c.1314+3A>G
NM_001367721.1(CASK):c.1314+5_1314+8del rs772325722
NM_001367721.1(CASK):c.1315G>A (p.Ala439Thr)
NM_001367721.1(CASK):c.1333G>A (p.Asp445Asn) rs2065516822
NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys) rs2147201432
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser) rs1021774904
NM_001367721.1(CASK):c.1438A>T (p.Met480Leu) rs2065514700
NM_001367721.1(CASK):c.1439T>A (p.Met480Lys) rs2147201151
NM_001367721.1(CASK):c.1439T>C (p.Met480Thr) rs2147201151
NM_001367721.1(CASK):c.1451A>G (p.Asn484Ser)
NM_001367721.1(CASK):c.1453G>C (p.Val485Leu) rs2065514569
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.1487A>C (p.Asn496Thr)
NM_001367721.1(CASK):c.1501A>G (p.Met501Val) rs2065513776
NM_001367721.1(CASK):c.1504-5A>G
NM_001367721.1(CASK):c.1504-6T>A rs767346232
NM_001367721.1(CASK):c.1504G>A (p.Gly502Arg) rs2147179382
NM_001367721.1(CASK):c.1521G>T (p.Met507Ile) rs1064794341
NM_001367721.1(CASK):c.1535A>G (p.His512Arg)
NM_001367721.1(CASK):c.1538G>A (p.Cys513Tyr) rs2147179242
NM_001367721.1(CASK):c.1540A>G (p.Ile514Val) rs2065378550
NM_001367721.1(CASK):c.1556T>C (p.Met519Thr) rs1555983784
NM_001367721.1(CASK):c.1565G>T (p.Gly522Val) rs2065377974
NM_001367721.1(CASK):c.1582+3A>T rs2147179049
NM_001367721.1(CASK):c.1598G>C (p.Gly533Ala) rs2147155894
NM_001367721.1(CASK):c.15C>A (p.Asp5Glu) rs2148116158
NM_001367721.1(CASK):c.1619A>G (p.Asn540Ser)
NM_001367721.1(CASK):c.1643C>G (p.Thr548Arg)
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile) rs2147155700
NM_001367721.1(CASK):c.1669-5T>A rs187065810
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.1669-7C>G rs780719523
NM_001367721.1(CASK):c.1678C>T (p.Arg560Trp)
NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr) rs1064797367
NM_001367721.1(CASK):c.1715G>A (p.Arg572His)
NM_001367721.1(CASK):c.172+1G>A rs2147971387
NM_001367721.1(CASK):c.172+5_172+6delinsAT
NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu) rs2065202221
NM_001367721.1(CASK):c.1737+7A>T
NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly) rs2147145150
NM_001367721.1(CASK):c.1790C>G (p.Thr597Ser)
NM_001367721.1(CASK):c.1790C>T (p.Thr597Ile)
NM_001367721.1(CASK):c.1806G>A (p.Ser602=)
NM_001367721.1(CASK):c.1807-4A>T
NM_001367721.1(CASK):c.1816T>C (p.Ser606Pro)
NM_001367721.1(CASK):c.1819A>G (p.Thr607Ala) rs2065150872
NM_001367721.1(CASK):c.181C>T (p.Arg61Trp) rs2147833182
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
NM_001367721.1(CASK):c.1842+6T>C rs2147142062
NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys) rs2147138697
NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu)
NM_001367721.1(CASK):c.1880A>G (p.Lys627Arg)
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1912A>T (p.Ile638Phe)
NM_001367721.1(CASK):c.1916G>A (p.Arg639Gln)
NM_001367721.1(CASK):c.191G>A (p.Ser64Asn) rs1556121425
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val) rs1555980007
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
NM_001367721.1(CASK):c.1949G>A (p.Ser650Asn) rs2147138480
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp)
NM_001367721.1(CASK):c.2038T>C (p.Trp680Arg)
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.2042G>A (p.Arg681Gln) rs2064965930
NM_001367721.1(CASK):c.2047G>A (p.Ala683Thr) rs1162012524
NM_001367721.1(CASK):c.2047G>T (p.Ala683Ser)
NM_001367721.1(CASK):c.2076G>C (p.Gln692His)
NM_001367721.1(CASK):c.2090G>A (p.Ser697Asn)
NM_001367721.1(CASK):c.2113AAG[1] (p.Lys706del) rs2147111902
NM_001367721.1(CASK):c.2126A>G (p.Lys709Arg) rs2147111852
NM_001367721.1(CASK):c.2155+4_2155+6delinsA rs752382791
NM_001367721.1(CASK):c.2155+5_2155+6del
NM_001367721.1(CASK):c.2156-4_2156-3delinsAAAACGCAAAGTGTTTTAGTTTTTAGTGTTTAGTTAAAACACTAA rs2147096402
NM_001367721.1(CASK):c.2174T>C (p.Leu725Pro) rs1064794425
NM_001367721.1(CASK):c.2179A>C (p.Thr727Pro) rs2147096327
NM_001367721.1(CASK):c.2190A>C (p.Glu730Asp)
NM_001367721.1(CASK):c.2192T>C (p.Val731Ala) rs2064855229
NM_001367721.1(CASK):c.2224C>A (p.Leu742Ile) rs2147096193
NM_001367721.1(CASK):c.2230T>G (p.Leu744Val) rs2064854651
NM_001367721.1(CASK):c.2236+6T>G
NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp) rs1555975493
NM_001367721.1(CASK):c.2243A>G (p.His748Arg) rs2064853222
NM_001367721.1(CASK):c.2248G>T (p.Val750Phe) rs2147095961
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) rs758345399
NM_001367721.1(CASK):c.2288A>T (p.His763Leu)
NM_001367721.1(CASK):c.2295C>A (p.Asp765Glu)
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)
NM_001367721.1(CASK):c.2303C>T (p.Ala768Val) rs2147095720
NM_001367721.1(CASK):c.2317+10G>C rs797045432
NM_001367721.1(CASK):c.2343C>G (p.Asp781Glu) rs55642200
NM_001367721.1(CASK):c.2358G>T (p.Lys786Asn) rs2064798017
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val) rs2064797651
NM_001367721.1(CASK):c.2382C>G (p.Asp794Glu) rs1348397781
NM_001367721.1(CASK):c.2384A>G (p.Gln795Arg) rs2147086271
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu) rs1064795035
NM_001367721.1(CASK):c.2434G>A (p.Glu812Lys) rs1235769310
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln) rs1235769310
NM_001367721.1(CASK):c.2444T>A (p.Met815Lys)
NM_001367721.1(CASK):c.2446T>C (p.Tyr816His)
NM_001367721.1(CASK):c.2449G>A (p.Gly817Arg)
NM_001367721.1(CASK):c.2452A>T (p.Thr818Ser) rs2147085972
NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys)
NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr) rs1569288273
NM_001367721.1(CASK):c.2530G>T (p.Val844Phe) rs2147067804
NM_001367721.1(CASK):c.2540C>T (p.Thr847Ile) rs2064675122
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile)
NM_001367721.1(CASK):c.2572G>A (p.Ala858Thr)
NM_001367721.1(CASK):c.2573C>T (p.Ala858Val)
NM_001367721.1(CASK):c.2576C>T (p.Ala859Val)
NM_001367721.1(CASK):c.2604+3A>G rs2147067529
NM_001367721.1(CASK):c.2604+5G>A rs2064673944
NM_001367721.1(CASK):c.2629_2631del (p.Lys877del)
NM_001367721.1(CASK):c.2662C>T (p.His888Tyr) rs2147059682
NM_001367721.1(CASK):c.2678C>A (p.Thr893Lys)
NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)
NM_001367721.1(CASK):c.269T>C (p.Val90Ala) rs2147833052
NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)
NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)
NM_001367721.1(CASK):c.2741G>A (p.Cys914Tyr)
NM_001367721.1(CASK):c.274G>A (p.Glu92Lys)
NM_001367721.1(CASK):c.2767T>A (p.Ser923Thr)
NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)
NM_001367721.1(CASK):c.281T>C (p.Met94Thr) rs2147736309
NM_001367721.1(CASK):c.282G>A (p.Met94Ile)
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu) rs2068673777
NM_001367721.1(CASK):c.317G>A (p.Arg106Gln) rs2147736164
NM_001367721.1(CASK):c.334G>A (p.Val112Met) rs2147736091
NM_001367721.1(CASK):c.344A>T (p.Glu115Val) rs886043662
NM_001367721.1(CASK):c.356+4T>A rs2147736000
NM_001367721.1(CASK):c.357C>A (p.Ser119Arg)
NM_001367721.1(CASK):c.366G>A (p.Met122Ile)
NM_001367721.1(CASK):c.418A>G (p.Arg140Gly) rs2147718784
NM_001367721.1(CASK):c.421G>C (p.Asp141His)
NM_001367721.1(CASK):c.424G>A (p.Val142Met)
NM_001367721.1(CASK):c.429+4del rs797045434
NM_001367721.1(CASK):c.430-4T>C
NM_001367721.1(CASK):c.430C>T (p.Pro144Ser) rs2147495797
NM_001367721.1(CASK):c.434A>G (p.His145Arg) rs2067197587
NM_001367721.1(CASK):c.493G>A (p.Val165Ile) rs1057521754
NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)
NM_001367721.1(CASK):c.533-5T>G rs2147479605
NM_001367721.1(CASK):c.536G>A (p.Arg179His)
NM_001367721.1(CASK):c.541G>A (p.Gly181Arg)
NM_001367721.1(CASK):c.550C>A (p.His184Asn) rs2147479461
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.55G>C (p.Gly19Arg)
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) rs2072812741
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile) rs1569379996
NM_001367721.1(CASK):c.589G>A (p.Gly197Arg) rs2067100386
NM_001367721.1(CASK):c.596C>T (p.Pro199Leu) rs1569379968
NM_001367721.1(CASK):c.60-3T>C
NM_001367721.1(CASK):c.601G>A (p.Asp201Asn)
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.62G>A (p.Gly21Asp) rs2071299462
NM_001367721.1(CASK):c.62G>T (p.Gly21Val)
NM_001367721.1(CASK):c.689T>C (p.Ile230Thr)
NM_001367721.1(CASK):c.708+2dup
NM_001367721.1(CASK):c.709-3C>T rs2067016459
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser) rs886043863
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp) rs1556013344
NM_001367721.1(CASK):c.757G>C (p.Val253Leu)
NM_001367721.1(CASK):c.761G>A (p.Arg254His) rs1569376084
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe) rs2147465356
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_001367721.1(CASK):c.835C>T (p.Arg279Trp)
NM_001367721.1(CASK):c.836G>A (p.Arg279Gln) rs2066559589
NM_001367721.1(CASK):c.838G>T (p.Asp280Tyr)
NM_001367721.1(CASK):c.847G>A (p.Ala283Thr) rs1012863843
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001367721.1(CASK):c.898G>A (p.Ala300Thr) rs1442053618
NM_001367721.1(CASK):c.916G>A (p.Gly306Ser)
NM_001367721.1(CASK):c.92A>G (p.Asn31Ser)
NM_001367721.1(CASK):c.931G>A (p.Ala311Thr)
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr) rs771426240
NM_001367721.1(CASK):c.989A>G (p.Asp330Gly)

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