C5555857[trait identifier] AND "ClinGen RASopathy Variant Curation Exp - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177950	NM_005633.4(SOS1):c.*4C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	RASopathy	GBenign FDA Recognized database
Select item 45367	NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)	SOS1 (P1237T +2 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 45366	NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)	SOS1 (P1235S +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 448938	NM_005633.4(SOS1):c.3658G>A (p.Val1220Met)	SOS1 (V1220M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40733	NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)	SOS1 (D1200E +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely benign FDA Recognized database
Select item 448939	NM_005633.4(SOS1):c.3552T>G (p.Pro1184=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45362	NM_005633.4(SOS1):c.3391+7A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 448940	NM_005633.4(SOS1):c.3330G>C (p.Ser1110=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 240197	NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)	SOS1 (D1108N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 477722	NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)	SOS1 (S1096T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 448941	NM_005633.4(SOS1):c.3072C>T (p.Leu1024=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40716	NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)	SOS1 (N1011S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40714	NM_005633.4(SOS1):c.2997T>C (p.Asn999=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40713	NM_005633.4(SOS1):c.2988G>A (p.Pro996=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40708	NM_005633.4(SOS1):c.2760G>A (p.Arg920=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 290125	NM_005633.4(SOS1):c.2728G>C (p.Asp910His)	SOS1 (D910H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 45353	NM_005633.4(SOS1):c.2673+14T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40706	NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)	SOS1 (E846K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40702	NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)	SOS1 (L791I +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 139228	NM_005633.4(SOS1):c.2238T>C (p.Asn746=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45350	NM_005633.4(SOS1):c.2167+6T>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40698	NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)	SOS1 (G719A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40697	NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)	SOS1 (A708T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 448942	NM_005633.4(SOS1):c.2010G>C (p.Leu670Phe)	SOS1 (L670F +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40692	NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)	SOS1 (P655L +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 448943	NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser)	SOS1 (N591S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40687	NM_005633.4(SOS1):c.1770G>A (p.Glu590=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40686	NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)	SOS1 (L569V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 561347	NM_005633.4(SOS1):c.1666G>A (p.Val556Ile)	SOS1 (V556I +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 40684	NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 12872	NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 40683	NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SOS1 (R552K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40682	NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	SOS1 (R552T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40681	NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	SOS1 (R552M +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 12871	NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	SOS1 (R552G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 139236	NM_005633.4(SOS1):c.1647A>G (p.Thr549=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 561935	NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala)	SOS1 (T549A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 40678	NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	SOS1 (S548R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 45348	NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	SOS1 (R497Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40665	NM_005633.4(SOS1):c.1230G>A (p.Gln410=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45343	NM_005633.4(SOS1):c.1074+5G>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40664	NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser)	SOS1 (P340S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GBenign FDA Recognized database
Select item 336021	NM_005633.4(SOS1):c.899G>A (p.Arg300Gln)	SOS1 (R300Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 830078	NM_005633.4(SOS1):c.844T>C (p.Cys282Arg)	SOS1 (C282R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 40662	NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	SOS1 (M269T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40660	NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	SOS1 (V250A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 197778	NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)	SOS1 (N233S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 181547	NM_005633.4(SOS1):c.643T>C (p.Tyr215His)	SOS1 (Y215H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 40655	NM_005633.4(SOS1):c.570C>T (p.Asp190=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45374	NM_005633.4(SOS1):c.553A>G (p.Ile185Val)	SOS1 (I185V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40651	NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	SOS1 (K170E +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 45364	NM_005633.4(SOS1):c.350T>G (p.Val117Gly)	SOS1 (V117G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40649	NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)	SOS1 (E108K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 448944	NM_005633.4(SOS1):c.294G>A (p.Lys98=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448945	NM_005633.4(SOS1):c.280A>G (p.Ile94Val)	SOS1 (I94V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448946	NM_005633.4(SOS1):c.225A>G (p.Gln75=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40643	NM_005633.4(SOS1):c.195A>C (p.Arg65=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 448947	NM_005633.4(SOS1):c.141T>C (p.Tyr47=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40641	NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)	SOS1 (T37A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40640	NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)	LOC129933535, SOS1 (P25S)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 282591	NM_005633.4(SOS1):c.39A>G (p.Glu13=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 44623	NM_002880.4(RAF1):c.1941C>T (p.Val647=)	MKRN2, RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40628	NM_002880.4(RAF1):c.1914G>A (p.Thr638=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 13960	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1 (L613V +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40627	NM_002880.4(RAF1):c.1830A>G (p.Gln610=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40626	NM_002880.4(RAF1):c.1755A>G (p.Val585=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 285438	NM_002880.4(RAF1):c.1668+4A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 448927	NM_002880.4(RAF1):c.1629G>A (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40621	NM_002880.4(RAF1):c.1629G>C (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40620	NM_002880.4(RAF1):c.1587G>A (p.Ser529=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 21342	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	RAF1 (T491I +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 40614	NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	RAF1 (R398L +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 181509	NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)	RAF1 (D381N +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 180718	NM_002880.4(RAF1):c.1113T>C (p.Asp371=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 178666	NM_002880.4(RAF1):c.1108+9_1108+21del	RAF1	Deletion (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40613	NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	RAF1 (G361A +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 40612	NM_002880.4(RAF1):c.935T>C (p.Val312Ala)	RAF1 (V312A +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 40611	NM_002880.4(RAF1):c.923C>T (p.Pro308Leu)	RAF1 (P308L +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40609	NM_002880.4(RAF1):c.909A>C (p.Thr303=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 448928	NM_002880.4(RAF1):c.907A>G (p.Thr303Ala)	RAF1 (T303A +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 181510	NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)	RAF1 (D279N +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 40607	NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	RAF1 (V263G +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 13958	NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	RAF1 (P261S +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 222774	NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)	RAF1 (T260I +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 44633	NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	RAF1 (S259Y +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 504514	NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)	RAF1 (S259A +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 40601	NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)	RAF1 (S259T +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 13957	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	RAF1 (S257L +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40600	NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)	RAF1 (S257P +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 40599	NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)	RAF1 (R256S +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 44630	NM_002880.4(RAF1):c.680+6T>C	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 44629	NM_002880.4(RAF1):c.639T>C (p.Thr213=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 448929	NM_002880.4(RAF1):c.581+4A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40588	NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)	RAF1 (N71S)	Single nucleotide variant (missense variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 343103	NM_002880.4(RAF1):c.125C>T (p.Ala42Val)	RAF1 (A42V)	Single nucleotide variant (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 229175	NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)	RAF1 (A42I)	Indel (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 448930	NM_002880.4(RAF1):c.124G>A (p.Ala42Thr)	RAF1 (A42T)	Single nucleotide variant (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 40585	NM_002880.4(RAF1):c.119G>A (p.Arg40His)	RAF1 (R40H)	Single nucleotide variant (missense variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 40584	NM_002880.4(RAF1):c.94A>G (p.Ile32Val)	RAF1 (I32V)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome and Noonan-related syndrome	GBenign FDA Recognized database
Select item 40583	NM_002880.4(RAF1):c.66T>G (p.Phe22Leu)	RAF1 (F22L)	Single nucleotide variant (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database

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