ClinVar Miner

List of variants in gene SETD2 reported as uncertain significance for Luscan-Lumish syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_014159.6(SETD2):c.1049A>T (p.Asp350Val)
NM_014159.6(SETD2):c.1103G>A (p.Arg368Gln) rs1385695873
NM_014159.6(SETD2):c.1211G>C (p.Arg404Thr)
NM_014159.6(SETD2):c.1334G>T (p.Arg445Leu)
NM_014159.6(SETD2):c.1337A>C (p.Tyr446Ser)
NM_014159.6(SETD2):c.1414C>T (p.Arg472Cys)
NM_014159.6(SETD2):c.1457C>T (p.Ser486Leu) rs1559748168
NM_014159.6(SETD2):c.1477C>T (p.Arg493Trp) rs778693117
NM_014159.6(SETD2):c.148G>A (p.Ala50Thr) rs191985301
NM_014159.6(SETD2):c.1579A>G (p.Ile527Val) rs373069098
NM_014159.6(SETD2):c.1580T>C (p.Ile527Thr)
NM_014159.6(SETD2):c.1610T>G (p.Leu537Arg) rs753117350
NM_014159.6(SETD2):c.1664A>C (p.Tyr555Ser)
NM_014159.6(SETD2):c.1687A>G (p.Ile563Val) rs587778668
NM_014159.6(SETD2):c.1833G>T (p.Lys611Asn)
NM_014159.6(SETD2):c.1885A>G (p.Lys629Glu) rs145650484
NM_014159.6(SETD2):c.1928A>G (p.His643Arg) rs776293901
NM_014159.6(SETD2):c.2008G>A (p.Glu670Lys)
NM_014159.6(SETD2):c.2032G>A (p.Gly678Arg)
NM_014159.6(SETD2):c.2072C>T (p.Thr691Ile)
NM_014159.6(SETD2):c.2100T>C (p.Asp700=)
NM_014159.6(SETD2):c.2113T>G (p.Ser705Ala)
NM_014159.6(SETD2):c.2155A>G (p.Asn719Asp) rs115859828
NM_014159.6(SETD2):c.2224T>G (p.Ser742Ala) rs774644234
NM_014159.6(SETD2):c.2294T>G (p.Val765Gly) rs1325359308
NM_014159.6(SETD2):c.2299A>G (p.Thr767Ala) rs564476604
NM_014159.6(SETD2):c.2402A>G (p.Asn801Ser) rs1241448462
NM_014159.6(SETD2):c.2450T>C (p.Met817Thr) rs115023083
NM_014159.6(SETD2):c.2452A>C (p.Lys818Gln)
NM_014159.6(SETD2):c.2507G>A (p.Cys836Tyr) rs1559745772
NM_014159.6(SETD2):c.2515A>G (p.Arg839Gly) rs1441287639
NM_014159.6(SETD2):c.2546G>T (p.Cys849Phe)
NM_014159.6(SETD2):c.2647C>T (p.Leu883Phe) rs1269748231
NM_014159.6(SETD2):c.26C>T (p.Pro9Leu) rs1553707534
NM_014159.6(SETD2):c.2702G>C (p.Gly901Ala) rs1194240525
NM_014159.6(SETD2):c.2776A>G (p.Lys926Glu) rs1167396235
NM_014159.6(SETD2):c.2794G>A (p.Val932Ile) rs141532143
NM_014159.6(SETD2):c.2819G>T (p.Gly940Val)
NM_014159.6(SETD2):c.2822A>G (p.Lys941Arg) rs1398213134
NM_014159.6(SETD2):c.2894A>G (p.Glu965Gly)
NM_014159.6(SETD2):c.2942T>C (p.Leu981Ser) rs200569407
NM_014159.6(SETD2):c.2956G>A (p.Glu986Lys)
NM_014159.6(SETD2):c.2959G>A (p.Gly987Arg) rs759593227
NM_014159.6(SETD2):c.2T>A (p.Met1Lys)
NM_014159.6(SETD2):c.3131G>A (p.Ser1044Asn) rs587778673
NM_014159.6(SETD2):c.3176G>A (p.Ser1059Asn) rs558262802
NM_014159.6(SETD2):c.3193C>T (p.Arg1065Cys)
NM_014159.6(SETD2):c.3251G>A (p.Ser1084Asn)
NM_014159.6(SETD2):c.3266G>A (p.Arg1089Gln)
NM_014159.6(SETD2):c.335C>T (p.Ser112Leu) rs187767340
NM_014159.6(SETD2):c.3361G>A (p.Ala1121Thr) rs1336548478
NM_014159.6(SETD2):c.3371C>T (p.Ala1124Val) rs538871720
NM_014159.6(SETD2):c.3484C>T (p.His1162Tyr) rs137871492
NM_014159.6(SETD2):c.3572A>G (p.Lys1191Arg) rs1559742980
NM_014159.6(SETD2):c.3580A>G (p.Ile1194Val)
NM_014159.6(SETD2):c.3582A>G (p.Ile1194Met) rs1211620525
NM_014159.6(SETD2):c.3593A>G (p.Gln1198Arg)
NM_014159.6(SETD2):c.3691G>A (p.Gly1231Arg)
NM_014159.6(SETD2):c.3769A>T (p.Asn1257Tyr)
NM_014159.6(SETD2):c.3850C>A (p.His1284Asn) rs1387669118
NM_014159.6(SETD2):c.3967A>C (p.Thr1323Pro)
NM_014159.6(SETD2):c.3991C>G (p.Leu1331Val)
NM_014159.6(SETD2):c.4027C>A (p.Gln1343Lys) rs781672875
NM_014159.6(SETD2):c.4091A>G (p.Lys1364Arg) rs1559741577
NM_014159.6(SETD2):c.4093G>A (p.Gly1365Arg) rs772882978
NM_014159.6(SETD2):c.4121G>A (p.Ser1374Asn) rs762222123
NM_014159.6(SETD2):c.4344C>G (p.Ser1448=) rs992969331
NM_014159.6(SETD2):c.4487G>A (p.Arg1496Gln) rs1553699111
NM_014159.6(SETD2):c.4928A>G (p.Asn1643Ser) rs1553694843
NM_014159.6(SETD2):c.500C>T (p.Pro167Leu) rs78682369
NM_014159.6(SETD2):c.5142A>G (p.Ser1714=)
NM_014159.6(SETD2):c.5202G>C (p.Gln1734His)
NM_014159.6(SETD2):c.5317C>T (p.Arg1773Cys)
NM_014159.6(SETD2):c.538T>G (p.Ser180Ala) rs1318754770
NM_014159.6(SETD2):c.5524G>A (p.Gly1842Arg)
NM_014159.6(SETD2):c.5542A>G (p.Thr1848Ala)
NM_014159.6(SETD2):c.5561C>T (p.Pro1854Leu) rs1559701896
NM_014159.6(SETD2):c.5632T>C (p.Phe1878Leu)
NM_014159.6(SETD2):c.5633T>C (p.Phe1878Ser) rs587778665
NM_014159.6(SETD2):c.5812G>A (p.Val1938Ile) rs116417406
NM_014159.6(SETD2):c.5870A>G (p.Asp1957Gly) rs1553690289
NM_014159.6(SETD2):c.5872G>C (p.Ala1958Pro)
NM_014159.6(SETD2):c.5900G>C (p.Gly1967Ala)
NM_014159.6(SETD2):c.590C>T (p.Ala197Val) rs374950143
NM_014159.6(SETD2):c.5942A>G (p.Gln1981Arg) rs189529024
NM_014159.6(SETD2):c.6044G>A (p.Ser2015Asn) rs1366338930
NM_014159.6(SETD2):c.6119G>C (p.Arg2040Pro) rs1244929991
NM_014159.6(SETD2):c.6241C>T (p.Leu2081Phe) rs1553685117
NM_014159.6(SETD2):c.6429C>A (p.Asn2143Lys)
NM_014159.6(SETD2):c.6455A>G (p.Tyr2152Cys) rs139628048
NM_014159.6(SETD2):c.6482A>C (p.His2161Pro)
NM_014159.6(SETD2):c.6604C>G (p.Pro2202Ala)
NM_014159.6(SETD2):c.6614A>G (p.His2205Arg) rs746404627
NM_014159.6(SETD2):c.6737G>C (p.Gly2246Ala)
NM_014159.6(SETD2):c.676C>G (p.Pro226Ala) rs780963440
NM_014159.6(SETD2):c.6953C>G (p.Pro2318Arg)
NM_014159.6(SETD2):c.6999_7007del (p.Gln2334_Ile2336del)
NM_014159.6(SETD2):c.7048G>A (p.Ala2350Thr)
NM_014159.6(SETD2):c.7093C>G (p.Gln2365Glu)
NM_014159.6(SETD2):c.7350+6T>C
NM_014159.6(SETD2):c.799G>A (p.Val267Ile) rs186148199
NM_014159.6(SETD2):c.920C>A (p.Ser307Tyr) rs1303561180
NM_014159.6(SETD2):c.94A>G (p.Ile32Val) rs1170321784

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