List of variants in gene CAMTA1 reported as uncertain significance for cerebellar disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 50

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)	rs138288107	0.00016
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)	rs755920468	0.00005
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val)	rs147636995	0.00004
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser)	rs373331254	0.00004
NM_015215.4(CAMTA1):c.439-60758C>T	rs997317904	0.00003
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys)	rs200732212	0.00002
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr)	rs2095986041	0.00001
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)	rs965685976	0.00001
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)	rs774307423	0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys)	rs758739555	0.00001
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn)	rs2095980355
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)	rs879255532
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)	rs1557636777
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg)	rs2095989201
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)	rs765488241
NM_015215.4(CAMTA1):c.2585G>C (p.Gly862Ala)
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
NM_015215.4(CAMTA1):c.2779+5G>A	rs2149222075
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala)	rs2096135808
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val)	rs1577305812
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs)	rs2149302921
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)	rs1435279555
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
NM_015215.4(CAMTA1):c.4990-3503A>C	rs2150309041
NM_015215.4(CAMTA1):c.511-22_511-19del	rs2095751767
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
NM_015215.4(CAMTA1):c.699C>G (p.Asn233Lys)
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val)	rs2149152505
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)	rs767725186

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.