ClinVar Miner

List of variants reported as likely pathogenic by Neurogenetics Laboratory - MEYER, AOU Meyer

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.4031G>A (p.Cys1344Tyr) rs1057519527
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly) rs1057519525
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) rs1057519543
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro) rs1057519545
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.2839A>G (p.Lys947Glu) rs1057519544
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser) rs1057519535

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.