ClinVar Miner

List of variants reported as likely pathogenic for Rasopathy by Invitae

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Total variants: 23
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HGVS dbSNP
NC_000012.11:g.(?_112915455)_(112915819_?)del
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.779C>A (p.Thr260Lys)
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_033360.4(KRAS):c.*12A>G rs104894360
NM_033360.4(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_033360.4(KRAS):c.436G>T (p.Ala146Ser) rs121913527
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110

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