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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
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.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_005633.4(SOS1):c.844T>C (p.Cys282Arg)	rs1671004485
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	rs121434499
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	rs1555194026

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