ClinVar for MedGen (Select 1792298) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023848	NM_005633.4(SOS1):c.1548A>G (p.Ile516Met)	SOS1 (I509M +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3023767	NM_002834.5(PTPN11):c.756+16A>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3023757	NM_004985.5(KRAS):c.450+3A>G	KRAS	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3023528	NM_004333.6(BRAF):c.1993A>G (p.Ile665Val)	BRAF (I613V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3022696	NM_005188.4(CBL):c.2004A>G (p.Ser668=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3022033	NM_002880.4(RAF1):c.912C>G (p.Gly304=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3021504	NM_004333.6(BRAF):c.2296C>T (p.His766Tyr)	BRAF (H744Y +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3021502	NM_030662.4(MAP2K2):c.1090A>G (p.Thr364Ala)	MAP2K2 (T364A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3020677	NM_005188.4(CBL):c.93C>T (p.Asp31=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3020622	NM_005633.4(SOS1):c.982G>C (p.Gly328Arg)	SOS1 (G321R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3020447	NM_004333.6(BRAF):c.88G>A (p.Gly30Ser)	BRAF (G30S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3020433	NM_002880.4(RAF1):c.730A>C (p.Ser244Arg)	RAF1 (S163R +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3020428	NM_002834.5(PTPN11):c.756+6T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3020163	NM_030662.4(MAP2K2):c.58G>A (p.Glu20Lys)	LOC130063193, MAP2K2 (E20K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3020045	NM_005188.4(CBL):c.1173A>G (p.Val391=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3019860	NM_005633.4(SOS1):c.1534C>T (p.His512Tyr)	SOS1 (H512Y +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3019684	NM_002880.4(RAF1):c.630T>C (p.Pro210=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GLikely benign
Select item 3019474	NM_005633.4(SOS1):c.2516T>C (p.Ile839Thr)	SOS1 (I832T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3019378	NM_005188.4(CBL):c.196-4G>A	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3019195	NM_030662.4(MAP2K2):c.917G>T (p.Ser306Ile)	MAP2K2 (S306I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3018992	NM_005633.4(SOS1):c.3320C>G (p.Ser1107Cys)	SOS1 (S1107C +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign
Select item 3018687	NM_005188.4(CBL):c.1230A>G (p.Glu410=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3018676	NM_005188.4(CBL):c.1431+15T>C	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3018277	NM_002880.4(RAF1):c.1869A>G (p.Pro623=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3018185	NM_002880.4(RAF1):c.1548G>A (p.Val516=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3018123	NM_002834.5(PTPN11):c.1448-17T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017949	NM_007373.4(SHOC2):c.972+16G>A	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017799	NM_005633.4(SOS1):c.2390+18C>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017775	NM_002880.4(RAF1):c.1273G>A (p.Glu425Lys)	RAF1 (E344K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RASopathy	GUncertain significance
Select item 3017437	NM_004333.6(BRAF):c.981-16G>C	BRAF, LOC126860202	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017363	NM_030662.4(MAP2K2):c.919+12A>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017352	NM_002834.5(PTPN11):c.332+3C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3017204	NM_007373.4(SHOC2):c.842-16_842-15insG	SHOC2	Insertion (intron variant)	RASopathy	GLikely benign
Select item 3016871	NM_005188.4(CBL):c.2542G>T (p.Ala848Ser)	CBL (A848S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3016784	NM_030662.4(MAP2K2):c.183A>G (p.Lys61=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3016703	NM_007373.4(SHOC2):c.261T>C (p.Asn87=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3016641	NM_002834.5(PTPN11):c.1225-7A>C	PTPN11	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3016320	NM_005633.4(SOS1):c.1569T>G (p.Ser523Arg)	SOS1 (S516R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3016301	NM_004333.6(BRAF):c.1993-20C>A	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3016298	NM_007373.4(SHOC2):c.321A>C (p.Leu107Phe)	SHOC2 (L107F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3015661	NM_005633.4(SOS1):c.1100A>G (p.Gln367Arg)	SOS1 (Q360R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3015283	NM_005633.4(SOS1):c.3082-12A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3015127	NM_007373.4(SHOC2):c.1515A>G (p.Leu505=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3015036	NM_005188.4(CBL):c.2154-13C>G	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3014982	NM_005188.4(CBL):c.929C>G (p.Ala310Gly)	CBL (A310G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3014811	NM_004333.6(BRAF):c.2128-6_2128-5insTTTTTTTTTC	BRAF	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 3014587	NM_030662.4(MAP2K2):c.985-18C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3014457	NM_004333.6(BRAF):c.1264C>T (p.Pro422Ser)	BRAF (P385S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3014225	NM_002880.4(RAF1):c.662T>C (p.Val221Ala)	RAF1 (V140A +1 more)	Single nucleotide variant (intron variant +2 more)	RASopathy	GLikely benign
Select item 3013995	NM_005188.4(CBL):c.2282A>G (p.Asn761Ser)	CBL (N761S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3013525	NM_002880.4(RAF1):c.862+4C>A	RAF1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3013391	NM_004333.6(BRAF):c.279A>T (p.Gln93His)	BRAF (Q41H +2 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3012947	NM_005633.4(SOS1):c.3810A>G (p.Arg1270=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3012603	NM_005188.4(CBL):c.1406T>C (p.Met469Thr)	CBL (M469T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3012487	NM_005633.4(SOS1):c.2168-11A>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3011924	NM_002880.4(RAF1):c.138C>T (p.Gly46=)	RAF1 (A3V)	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GUncertain significance
Select item 3011897	NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)	SHOC2 (F34L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3011698	NM_002834.5(PTPN11):c.1448-13G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3011599	NM_002755.4(MAP2K1):c.81-13del	MAP2K1	Deletion (intron variant)	RASopathy	GBenign
Select item 3011255	NM_005633.4(SOS1):c.2633T>C (p.Met878Thr)	SOS1 (M871T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3011003	NM_030662.4(MAP2K2):c.1047-20C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3010796	NM_002834.5(PTPN11):c.1387A>G (p.Ile463Val)	PTPN11 (I467V +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3010320	NM_005188.4(CBL):c.444-14C>A	CBL	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3009878	NM_004985.5(KRAS):c.548C>G (p.Thr183Arg)	KRAS (T183R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3007916	NM_002524.5(NRAS):c.21G>T (p.Val7=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3007034	NM_002880.4(RAF1):c.151C>G (p.Pro51Ala)	RAF1 (I7M +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3006138	NM_030662.4(MAP2K2):c.92+15G>A	LOC130063193, MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3005245	NM_005633.4(SOS1):c.3609_3614del (p.Ile1204_Ser1205del)	SOS1	Deletion (inframe_deletion)	RASopathy	GUncertain significance
Select item 3005032	NM_004333.6(BRAF):c.1617C>T (p.His539=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3003504	NM_004333.6(BRAF):c.1077A>G (p.Gln359=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3003377	NM_002880.4(RAF1):c.1529T>C (p.Leu510Pro)	RAF1 (L510P +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3003124	NM_002880.4(RAF1):c.1418-9A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3003057	NM_005633.4(SOS1):c.982G>A (p.Gly328Ser)	SOS1 (G328S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3002928	NM_002880.4(RAF1):c.1621C>A (p.Leu541Met)	RAF1 (L460M +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 3002424	NM_005188.4(CBL):c.748-20G>A	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3002375	NM_005633.4(SOS1):c.3945A>C (p.Thr1315=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3002119	NM_004333.6(BRAF):c.1860+5G>A	BRAF	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3001986	NM_005188.4(CBL):c.1942-18C>T	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3001439	NM_004333.6(BRAF):c.1861-18C>G	BRAF	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3001257	NM_030662.4(MAP2K2):c.97A>C (p.Asn33His)	MAP2K2 (N33H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3000160	NM_002880.4(RAF1):c.1848C>T (p.Ile616=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2999228	NM_030662.4(MAP2K2):c.451-20_451-17del	MAP2K2	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2999085	NM_005633.4(SOS1):c.3702A>G (p.Gln1234=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2998814	NM_030662.4(MAP2K2):c.739C>T (p.Gln247Ter)	MAP2K2 (Q247*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2998780	NM_030662.4(MAP2K2):c.304-11T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2998050	NM_007373.4(SHOC2):c.1541-20T>A	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2997336	NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu)	MAP2K1, SNAPC5 (F323L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2996554	NM_004333.6(BRAF):c.1028C>T (p.Pro343Leu)	BRAF, LOC126860202 (P255L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2996187	NM_007373.4(SHOC2):c.1130G>A (p.Arg377Lys)	SHOC2 (R377K +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2995838	NM_005633.4(SOS1):c.563T>C (p.Leu188Ser)	SOS1 (L181S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign
Select item 2995649	NM_002880.4(RAF1):c.774A>G (p.Thr258=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2995164	NM_002880.4(RAF1):c.1311G>A (p.Glu437=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2994655	NM_004985.5(KRAS):c.261T>G (p.Thr87=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2994307	NM_005633.4(SOS1):c.3182G>A (p.Arg1061Lys)	SOS1 (R1061K +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2993247	NM_007373.4(SHOC2):c.703+17T>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2993189	NM_005633.4(SOS1):c.3272C>G (p.Pro1091Arg)	SOS1 (P1084R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2993126	NM_007373.4(SHOC2):c.826C>T (p.Leu276Phe)	SHOC2 (L276F)	Single nucleotide variant (missense variant +2 more)	RASopathy	GUncertain significance
Select item 2992542	NM_002880.4(RAF1):c.89C>A (p.Pro30His)	RAF1 (P30H)	Single nucleotide variant (missense variant +2 more)	RASopathy	GUncertain significance
Select item 2990668	NM_002834.5(PTPN11):c.854-13_854-12del	PTPN11	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2990631	NM_002880.4(RAF1):c.581+8A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign

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