ClinVar Miner

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

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=) rs200293968
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.3(MAP2K1):c.896-5T>C rs748953467
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.643-6dup rs758889732
NM_002880.3(RAF1):c.124G>A (p.Ala42Thr) rs200856000
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.581+4A>G rs201776526
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419
NM_004985.5(KRAS):c.451-14T>C rs372508498
NM_004985.5(KRAS):c.90C>T (p.Asp30=) rs113623140
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1647A>G (p.Thr549=) rs139683425
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.294G>A (p.Lys98=) rs748478952
NM_005633.3(SOS1):c.3330G>C (p.Ser1110=) rs146383828
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.3(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_007373.3(SHOC2):c.1540+8C>A rs771283010
NM_007373.3(SHOC2):c.1540+8C>T rs771283010
NM_007373.3(SHOC2):c.363G>A (p.Glu121=) rs115713408
NM_007373.3(SHOC2):c.377C>T (p.Thr126Ile) rs138375593
NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) rs730881018
NM_007373.3(SHOC2):c.613A>G (p.Thr205Ala) rs768411950
NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=) rs146618055
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_030662.3(MAP2K2):c.847G>T (p.Val283Leu) rs185999703

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