ClinVar Miner

List of variants reported as uncertain significance for Luscan-Lumish syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
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HGVS dbSNP
NM_014159.6(SETD2):c.7350+6T>C rs369951554
NM_014159.6(SETD2):c.986G>A (p.Arg329Gln) rs540015912
NM_014159.7(SETD2):c.1049A>T (p.Asp350Val) rs1320463023
NM_014159.7(SETD2):c.1103G>A (p.Arg368Gln) rs1385695873
NM_014159.7(SETD2):c.1184G>A (p.Arg395Lys)
NM_014159.7(SETD2):c.1199G>A (p.Arg400Gln)
NM_014159.7(SETD2):c.1211G>C (p.Arg404Thr) rs1575818079
NM_014159.7(SETD2):c.1247A>G (p.Asn416Ser)
NM_014159.7(SETD2):c.1331C>A (p.Thr444Lys)
NM_014159.7(SETD2):c.1334G>T (p.Arg445Leu) rs935586454
NM_014159.7(SETD2):c.1337A>C (p.Tyr446Ser) rs1575817748
NM_014159.7(SETD2):c.1369G>A (p.Glu457Lys)
NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys)
NM_014159.7(SETD2):c.1457C>T (p.Ser486Leu) rs1559748168
NM_014159.7(SETD2):c.1477C>T (p.Arg493Trp) rs778693117
NM_014159.7(SETD2):c.1478G>A (p.Arg493Gln)
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301
NM_014159.7(SETD2):c.1523G>T (p.Gly508Val)
NM_014159.7(SETD2):c.1580T>C (p.Ile527Thr) rs769791652
NM_014159.7(SETD2):c.1590T>G (p.Cys530Trp)
NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg) rs753117350
NM_014159.7(SETD2):c.1619G>A (p.Arg540Gln)
NM_014159.7(SETD2):c.1661G>A (p.Arg554His)
NM_014159.7(SETD2):c.1664A>C (p.Tyr555Ser) rs573301881
NM_014159.7(SETD2):c.1706T>G (p.Phe569Cys)
NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr)
NM_014159.7(SETD2):c.1769T>C (p.Leu590Ser)
NM_014159.7(SETD2):c.1833G>T (p.Lys611Asn) rs575862721
NM_014159.7(SETD2):c.1928A>G (p.His643Arg) rs776293901
NM_014159.7(SETD2):c.2008G>A (p.Glu670Lys) rs374976472
NM_014159.7(SETD2):c.2032G>A (p.Gly678Arg) rs145499611
NM_014159.7(SETD2):c.2072C>T (p.Thr691Ile) rs371953347
NM_014159.7(SETD2):c.2100T>C (p.Asp700=) rs775142324
NM_014159.7(SETD2):c.2155A>C (p.Asn719His)
NM_014159.7(SETD2):c.2176A>G (p.Arg726Gly)
NM_014159.7(SETD2):c.2192A>G (p.Asp731Gly)
NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala) rs774644234
NM_014159.7(SETD2):c.2248G>A (p.Glu750Lys)
NM_014159.7(SETD2):c.2299A>G (p.Thr767Ala) rs564476604
NM_014159.7(SETD2):c.2312C>G (p.Ser771Cys)
NM_014159.7(SETD2):c.2417A>C (p.Asn806Thr)
NM_014159.7(SETD2):c.2507G>A (p.Cys836Tyr) rs1559745772
NM_014159.7(SETD2):c.2515A>G (p.Arg839Gly) rs1441287639
NM_014159.7(SETD2):c.2546G>T (p.Cys849Phe) rs776511280
NM_014159.7(SETD2):c.2553A>C (p.Glu851Asp)
NM_014159.7(SETD2):c.2647C>T (p.Leu883Phe) rs1269748231
NM_014159.7(SETD2):c.265C>T (p.Leu89Phe)
NM_014159.7(SETD2):c.26C>T (p.Pro9Leu) rs1553707534
NM_014159.7(SETD2):c.2702G>C (p.Gly901Ala) rs1194240525
NM_014159.7(SETD2):c.2716C>T (p.Pro906Ser)
NM_014159.7(SETD2):c.2731G>A (p.Val911Met)
NM_014159.7(SETD2):c.2813A>G (p.Asp938Gly)
NM_014159.7(SETD2):c.2822A>G (p.Lys941Arg) rs1398213134
NM_014159.7(SETD2):c.2894A>G (p.Glu965Gly) rs781662505
NM_014159.7(SETD2):c.2912C>G (p.Pro971Arg)
NM_014159.7(SETD2):c.2942T>C (p.Leu981Ser) rs200569407
NM_014159.7(SETD2):c.2956G>A (p.Glu986Lys) rs1559744630
NM_014159.7(SETD2):c.2959G>A (p.Gly987Arg) rs759593227
NM_014159.7(SETD2):c.2993T>G (p.Val998Gly)
NM_014159.7(SETD2):c.29C>T (p.Pro10Leu)
NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly)
NM_014159.7(SETD2):c.3098C>T (p.Thr1033Ile)
NM_014159.7(SETD2):c.3131G>A (p.Ser1044Asn) rs587778673
NM_014159.7(SETD2):c.3146G>A (p.Ser1049Asn)
NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn) rs558262802
NM_014159.7(SETD2):c.3193C>T (p.Arg1065Cys) rs765867260
NM_014159.7(SETD2):c.3239T>C (p.Met1080Thr)
NM_014159.7(SETD2):c.3251G>A (p.Ser1084Asn) rs753435281
NM_014159.7(SETD2):c.3266G>A (p.Arg1089Gln) rs536163785
NM_014159.7(SETD2):c.3356G>A (p.Ser1119Asn)
NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr) rs1336548478
NM_014159.7(SETD2):c.3475G>A (p.Glu1159Lys)
NM_014159.7(SETD2):c.3572A>G (p.Lys1191Arg) rs1559742980
NM_014159.7(SETD2):c.3580A>G (p.Ile1194Val) rs541209644
NM_014159.7(SETD2):c.3582A>G (p.Ile1194Met) rs1211620525
NM_014159.7(SETD2):c.3593A>G (p.Gln1198Arg) rs1575811938
NM_014159.7(SETD2):c.3601G>C (p.Glu1201Gln)
NM_014159.7(SETD2):c.3614A>G (p.Tyr1205Cys)
NM_014159.7(SETD2):c.3655C>G (p.Gln1219Glu)
NM_014159.7(SETD2):c.3661A>G (p.Thr1221Ala)
NM_014159.7(SETD2):c.3681T>G (p.Asp1227Glu)
NM_014159.7(SETD2):c.3691G>A (p.Gly1231Arg) rs773007833
NM_014159.7(SETD2):c.3710T>A (p.Phe1237Tyr)
NM_014159.7(SETD2):c.3748C>G (p.His1250Asp)
NM_014159.7(SETD2):c.3769A>T (p.Asn1257Tyr) rs750887950
NM_014159.7(SETD2):c.3788C>G (p.Ser1263Cys)
NM_014159.7(SETD2):c.3802_3804del (p.Ser1268del)
NM_014159.7(SETD2):c.3860A>C (p.Gln1287Pro) rs1553700083
NM_014159.7(SETD2):c.3908A>G (p.Asn1303Ser)
NM_014159.7(SETD2):c.3919G>T (p.Asp1307Tyr)
NM_014159.7(SETD2):c.3936A>G (p.Arg1312=)
NM_014159.7(SETD2):c.3959A>G (p.Tyr1320Cys)
NM_014159.7(SETD2):c.3967A>C (p.Thr1323Pro) rs1575810763
NM_014159.7(SETD2):c.3991C>G (p.Leu1331Val) rs1575810676
NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys) rs781672875
NM_014159.7(SETD2):c.4031A>C (p.Gln1344Pro)
NM_014159.7(SETD2):c.4034A>G (p.Asp1345Gly)
NM_014159.7(SETD2):c.4075T>C (p.Ser1359Pro)
NM_014159.7(SETD2):c.4091A>G (p.Lys1364Arg) rs1559741577
NM_014159.7(SETD2):c.4093G>A (p.Gly1365Arg) rs772882978
NM_014159.7(SETD2):c.4121G>A (p.Ser1374Asn) rs762222123
NM_014159.7(SETD2):c.4124A>G (p.Asn1375Ser)
NM_014159.7(SETD2):c.4151A>G (p.Asn1384Ser)
NM_014159.7(SETD2):c.4187A>G (p.Asn1396Ser)
NM_014159.7(SETD2):c.4220G>T (p.Arg1407Met)
NM_014159.7(SETD2):c.4240G>C (p.Asp1414His)
NM_014159.7(SETD2):c.4344C>G (p.Ser1448=) rs992969331
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018
NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln) rs1553699111
NM_014159.7(SETD2):c.4500G>C (p.Glu1500Asp)
NM_014159.7(SETD2):c.4683C>T (p.Gly1561=)
NM_014159.7(SETD2):c.4804A>G (p.Ile1602Val)
NM_014159.7(SETD2):c.4928A>G (p.Asn1643Ser) rs1553694843
NM_014159.7(SETD2):c.5142A>G (p.Ser1714=) rs1306274414
NM_014159.7(SETD2):c.5150G>A (p.Gly1717Glu)
NM_014159.7(SETD2):c.5202G>C (p.Gln1734His) rs141847082
NM_014159.7(SETD2):c.523G>T (p.Ala175Ser)
NM_014159.7(SETD2):c.5317C>T (p.Arg1773Cys) rs758473163
NM_014159.7(SETD2):c.5369G>C (p.Arg1790Pro) rs376246790
NM_014159.7(SETD2):c.538T>G (p.Ser180Ala) rs1318754770
NM_014159.7(SETD2):c.5510T>C (p.Leu1837Ser)
NM_014159.7(SETD2):c.5524G>A (p.Gly1842Arg) rs1575745225
NM_014159.7(SETD2):c.5542A>G (p.Thr1848Ala) rs1575745202
NM_014159.7(SETD2):c.5561C>T (p.Pro1854Leu) rs1559701896
NM_014159.7(SETD2):c.5567A>G (p.Asn1856Ser)
NM_014159.7(SETD2):c.5632T>C (p.Phe1878Leu) rs138568145
NM_014159.7(SETD2):c.5633T>C (p.Phe1878Ser) rs587778665
NM_014159.7(SETD2):c.5689A>C (p.Thr1897Pro)
NM_014159.7(SETD2):c.570_578GCCTCCACC[3] (p.Pro194_Pro196dup)
NM_014159.7(SETD2):c.5870A>G (p.Asp1957Gly) rs1553690289
NM_014159.7(SETD2):c.5872G>A (p.Ala1958Thr)
NM_014159.7(SETD2):c.5872G>C (p.Ala1958Pro) rs377115716
NM_014159.7(SETD2):c.5887A>G (p.Lys1963Glu)
NM_014159.7(SETD2):c.5900G>C (p.Gly1967Ala) rs143991928
NM_014159.7(SETD2):c.5906A>G (p.Lys1969Arg)
NM_014159.7(SETD2):c.5942A>G (p.Gln1981Arg) rs189529024
NM_014159.7(SETD2):c.5987A>G (p.Gln1996Arg)
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)
NM_014159.7(SETD2):c.6039G>A (p.Leu2013=)
NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn) rs1366338930
NM_014159.7(SETD2):c.6053A>G (p.Asp2018Gly)
NM_014159.7(SETD2):c.6119G>C (p.Arg2040Pro) rs1244929991
NM_014159.7(SETD2):c.6121G>A (p.Gly2041Arg)
NM_014159.7(SETD2):c.6212A>G (p.Asn2071Ser)
NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe) rs1553685117
NM_014159.7(SETD2):c.6293+9C>T
NM_014159.7(SETD2):c.6307A>C (p.Thr2103Pro)
NM_014159.7(SETD2):c.6429C>A (p.Asn2143Lys) rs139626026
NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys) rs139628048
NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu)
NM_014159.7(SETD2):c.6482A>C (p.His2161Pro) rs1575701343
NM_014159.7(SETD2):c.6604C>G (p.Pro2202Ala) rs143083979
NM_014159.7(SETD2):c.6614A>G (p.His2205Arg) rs746404627
NM_014159.7(SETD2):c.661G>C (p.Val221Leu)
NM_014159.7(SETD2):c.6628G>A (p.Val2210Met)
NM_014159.7(SETD2):c.6664C>T (p.Pro2222Ser) rs587778666
NM_014159.7(SETD2):c.6737G>C (p.Gly2246Ala) rs1575700909
NM_014159.7(SETD2):c.6760G>A (p.Val2254Ile)
NM_014159.7(SETD2):c.676C>G (p.Pro226Ala) rs780963440
NM_014159.7(SETD2):c.6770T>G (p.Leu2257Trp)
NM_014159.7(SETD2):c.6895G>A (p.Gly2299Arg)
NM_014159.7(SETD2):c.68C>G (p.Pro23Arg)
NM_014159.7(SETD2):c.6953C>G (p.Pro2318Arg) rs374228543
NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly)
NM_014159.7(SETD2):c.6982C>G (p.Leu2328Val)
NM_014159.7(SETD2):c.6999_7007del (p.Gln2334_Ile2336del) rs1575682841
NM_014159.7(SETD2):c.7048G>A (p.Ala2350Thr) rs199739297
NM_014159.7(SETD2):c.7048G>T (p.Ala2350Ser)
NM_014159.7(SETD2):c.7142C>A (p.Pro2381His)
NM_014159.7(SETD2):c.722C>G (p.Pro241Arg)
NM_014159.7(SETD2):c.7270A>G (p.Ser2424Gly)
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)
NM_014159.7(SETD2):c.7431+6_7431+28del
NM_014159.7(SETD2):c.7447G>A (p.Val2483Ile)
NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)
NM_014159.7(SETD2):c.7685A>G (p.Glu2562Gly)
NM_014159.7(SETD2):c.775A>G (p.Ile259Val)
NM_014159.7(SETD2):c.920C>A (p.Ser307Tyr) rs1303561180
NM_014159.7(SETD2):c.94A>G (p.Ile32Val) rs1170321784
NM_014159.7(SETD2):c.985C>T (p.Arg329Trp)

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