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: 73
Download table as spreadsheet
HGVS dbSNP
NM_014159.6(SETD2):c.1103G>A (p.Arg368Gln)
NM_014159.6(SETD2):c.1334G>T (p.Arg445Leu)
NM_014159.6(SETD2):c.1414C>T (p.Arg472Cys)
NM_014159.6(SETD2):c.1457C>T (p.Ser486Leu)
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.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.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)
NM_014159.6(SETD2):c.2299A>G (p.Thr767Ala) rs564476604
NM_014159.6(SETD2):c.2402A>G (p.Asn801Ser)
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)
NM_014159.6(SETD2):c.2515A>G (p.Arg839Gly) rs1441287639
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.2959G>A (p.Gly987Arg) rs759593227
NM_014159.6(SETD2):c.3193C>T (p.Arg1065Cys)
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)
NM_014159.6(SETD2):c.3582A>G (p.Ile1194Met) rs1211620525
NM_014159.6(SETD2):c.3850C>A (p.His1284Asn)
NM_014159.6(SETD2):c.4027C>A (p.Gln1343Lys) rs781672875
NM_014159.6(SETD2):c.4091A>G (p.Lys1364Arg)
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.5202G>C (p.Gln1734His)
NM_014159.6(SETD2):c.538T>G (p.Ser180Ala) rs1318754770
NM_014159.6(SETD2):c.5561C>T (p.Pro1854Leu)
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)
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.6455A>G (p.Tyr2152Cys) rs139628048
NM_014159.6(SETD2):c.6614A>G (p.His2205Arg) rs746404627
NM_014159.6(SETD2):c.676C>G (p.Pro226Ala) rs780963440
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)
NM_014159.6(SETD2):c.94A>G (p.Ile32Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.