ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by ClinGen RASopathy Variant Curation Expert Panel

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.67G>C (p.Gly23Arg) rs1560171992
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro) rs1114167429
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002834.5(PTPN11):c.782T>A (p.Leu261His) rs765642157
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg) rs1671004485
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026

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.