ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4568C>A (p.Ala1523Glu) rs1555619015
NM_000267.3(NF1):c.6560C>G (p.Ala2187Gly) rs1555534886
NM_000267.3(NF1):c.7148C>T (p.Ala2383Val) rs771706364
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp) rs1555391048
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe) rs1555392025
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635

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.