ClinVar Miner

List of variants reported as likely pathogenic by Geisinger Autism and Developmental Medicine Institute,Geisinger Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000540.2(RYR1):c.7836-1G>A rs1568507354
NM_001040142.2(SCN2A):c.3964G>A (p.Gly1322Arg) rs1057521223
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe) rs1568303086
NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys) rs1555313219
NM_001330078.2(NRXN1):c.773-304_790+128del rs1553368900
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs) rs1555970404
NM_001376.5(DYNC1H1):c.6490G>A (p.Val2164Met) rs1567010427
NM_002693.2(POLG):c.1646del (p.Leu549fs) rs1555453538
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_015189.3(EXOC6B):c.1299T>G (p.Tyr433Ter) rs1064795104
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
Single allele

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.