ClinVar Miner

List of variants in gene SETD2 reported as likely benign for Luscan-Lumish syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_014159.6(SETD2):c.1734A>T (p.Leu578Phe) rs138401612
NM_014159.6(SETD2):c.1775C>A (p.Thr592Lys) rs115569620
NM_014159.6(SETD2):c.2040A>G (p.Glu680=) rs374447180
NM_014159.6(SETD2):c.2251C>A (p.Pro751Thr) rs115788094
NM_014159.6(SETD2):c.2610A>G (p.Leu870=) rs1184838235
NM_014159.6(SETD2):c.2712A>G (p.Thr904=) rs759642122
NM_014159.6(SETD2):c.2730A>G (p.Ala910=) rs377041426
NM_014159.6(SETD2):c.2730A>T (p.Ala910=) rs377041426
NM_014159.6(SETD2):c.2988A>G (p.Ser996=) rs772906890
NM_014159.6(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179
NM_014159.6(SETD2):c.310C>A (p.Pro104Thr) rs539506462
NM_014159.6(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990
NM_014159.6(SETD2):c.3282T>C (p.Tyr1094=) rs774952312
NM_014159.6(SETD2):c.3309T>C (p.Asp1103=) rs1308698174
NM_014159.6(SETD2):c.336G>A (p.Ser112=) rs965088151
NM_014159.6(SETD2):c.3390G>A (p.Lys1130=) rs773475708
NM_014159.6(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093
NM_014159.6(SETD2):c.3897C>T (p.Tyr1299=) rs150036725
NM_014159.6(SETD2):c.4989G>A (p.Thr1663=) rs148325978
NM_014159.6(SETD2):c.5217C>T (p.Ser1739=) rs1553691527
NM_014159.6(SETD2):c.5364C>T (p.Asp1788=) rs148618471
NM_014159.6(SETD2):c.5505T>C (p.Pro1835=) rs1553690489
NM_014159.6(SETD2):c.558G>A (p.Pro186=) rs183095591
NM_014159.6(SETD2):c.561C>G (p.Pro187=) rs1553701917
NM_014159.6(SETD2):c.5666T>C (p.Met1889Thr) rs148097513
NM_014159.6(SETD2):c.5682T>C (p.Ser1894=) rs1553690398
NM_014159.6(SETD2):c.6109A>G (p.Thr2037Ala) rs113798770
NM_014159.6(SETD2):c.624A>G (p.Val208=) rs1174715079
NM_014159.6(SETD2):c.6780G>A (p.Pro2260=) rs774896853
NM_014159.6(SETD2):c.6885A>G (p.Ile2295Met) rs150476239
NM_014159.6(SETD2):c.7164C>T (p.Thr2388=) rs144752494
NM_014159.6(SETD2):c.7374A>G (p.Ala2458=) rs775487978

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.