ClinVar Miner

List of variants reported as pathogenic for RASopathy by GeneReviews

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.3(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370

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