ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_3929813)_(4387545_?)dup
NM_001079846.1(CREBBP):c.2027G>T (p.Arg676Leu) rs141098117
NM_001079846.1(CREBBP):c.3386A>G (p.Tyr1129Cys) rs587783481
NM_001079846.1(CREBBP):c.4307_4308delinsTC (p.Cys1436Phe) rs1555473126
NM_001079846.1(CREBBP):c.4351C>G (p.Pro1451Ala)
NM_001079846.1(CREBBP):c.4776+6C>T rs1567265838
NM_001079846.1(CREBBP):c.4937C>A (p.Ser1646Tyr) rs1555471841
NM_001079846.1(CREBBP):c.5723C>A (p.Pro1908Gln)
NM_001079846.1(CREBBP):c.5957C>T (p.Ala1986Val) rs745551441
NM_001079846.1(CREBBP):c.6270_6287del (p.Gln2090_Met2095del)
NM_001079846.1(CREBBP):c.6330C>T (p.Gly2110=) rs148539895
NM_001079846.1(CREBBP):c.6944_6964del (p.Arg2315_Pro2321del) rs766383937
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser)
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1627A>G (p.Met543Val)
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser)
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser)

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.