ClinVar Miner

List of variants reported as likely benign for Rasopathy by Invitae

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Total variants: 49
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HGVS dbSNP
NM_002524.5(NRAS):c.393C>T (p.His131=) rs745954671
NM_002755.3(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.3(MAP2K1):c.726G>T (p.Val242=) rs373745627
NM_002755.3(MAP2K1):c.810G>A (p.Glu270=) rs745891583
NM_002834.4(PTPN11):c.1191G>T (p.Thr397=) rs775571445
NM_002834.4(PTPN11):c.643-7C>T rs1555268066
NM_002834.4(PTPN11):c.66A>G (p.Thr22=) rs397516808
NM_002880.3(RAF1):c.30G>A (p.Thr10=) rs140806518
NM_002880.3(RAF1):c.507C>G (p.Gly169=) rs1309333776
NM_002880.3(RAF1):c.513A>G (p.Lys171=) rs561163045
NM_002880.3(RAF1):c.570C>T (p.Ile190=) rs780912024
NM_002880.3(RAF1):c.606T>G (p.Gly202=) rs754197477
NM_002880.3(RAF1):c.835-9C>G rs200112870
NM_002880.3(RAF1):c.855C>T (p.Ser285=) rs763657486
NM_002880.3(RAF1):c.933C>T (p.Pro311=) rs1553613022
NM_004333.6(BRAF):c.2127+7A>G rs371857758
NM_004333.6(BRAF):c.2128-15_2128-14dup rs373442098
NM_004333.6(BRAF):c.2142T>C (p.Ile714=) rs1554388024
NM_004333.6(BRAF):c.279A>G (p.Gln93=) rs150050723
NM_005188.3(CBL):c.120C>T (p.His40=) rs745328496
NM_005188.3(CBL):c.1290G>A (p.Val430=) rs1060503996
NM_005188.3(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
NM_005188.3(CBL):c.2223G>A (p.Ala741=) rs202229538
NM_005188.3(CBL):c.2251+9C>A rs1439660465
NM_005188.3(CBL):c.2316T>G (p.Asp772Glu) rs774428573
NM_005188.3(CBL):c.2337A>G (p.Pro779=) rs1042340033
NM_005188.3(CBL):c.444-9C>T rs892852052
NM_005188.3(CBL):c.591-8C>G rs749291716
NM_005188.3(CBL):c.6C>G (p.Ala2=) rs770473070
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1191A>G (p.Lys397=) rs770175415
NM_005633.3(SOS1):c.1648C>T (p.Leu550=) rs1233000238
NM_005633.3(SOS1):c.3330G>C (p.Ser1110=) rs146383828
NM_005633.3(SOS1):c.39A>G (p.Glu13=) rs763337946
NM_005633.3(SOS1):c.511-9_511-6del rs986512473
NM_005633.3(SOS1):c.543A>G (p.Glu181=) rs201068374
NM_005633.3(SOS1):c.720+9C>T rs370687707
NM_007373.3(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.3(SHOC2):c.1540+8C>A rs771283010
NM_007373.3(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.3(SHOC2):c.879T>C (p.Tyr293=) rs773817796
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.390C>T (p.Ile130=) rs749956316
NM_030662.3(MAP2K2):c.402C>T (p.Tyr134=) rs753713281
NM_030662.3(MAP2K2):c.861A>G (p.Glu287=) rs1431720692
NM_030662.3(MAP2K2):c.96A>G (p.Ala32=) rs1555698705
NM_033360.4(KRAS):c.112-10C>T rs760989619
NM_033360.4(KRAS):c.24A>G (p.Val8=) rs147406419

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