ClinVar (all) for Orgtrack (Select 506439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1270813	NM_012250.6(RRAS2):c.409-16A>T	RRAS2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 936786	NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)	RIT1 (R87C +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 830080	NM_176795.5(HRAS):c.488_507del (p.Leu163fs)	HRAS, LRRC56 (L163fs +1 more)	Deletion (frameshift variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 830079	NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe)	SHOC2 (Y189F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance 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 774811	NM_002709.3(PPP1CB):c.27C>T (p.Asp9=)	PPP1CB	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 636263	NM_005633.4(SOS1):c.1867_1869delinsGAA (p.Phe623Glu)	SOS1 (F623E +1 more)	Indel (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance FDA Recognized database
Select item 636262	NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	SOS1 (F623I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 635782	NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)	MRAS (T68I)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 635781	NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)	MRAS (G23V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 626912	NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	RRAS2 (A35T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 575203	NM_002834.5(PTPN11):c.782T>A (p.Leu261His)	PTPN11 (L261H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 569590	NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln)	MAP2K2 (R281Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance 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 561681	NM_006912.6(RIT1):c.268A>G (p.Met90Val)	RIT1 (M90V +2 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic 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 560681	NM_001085049.3(MRAS):c.67G>C (p.Gly23Arg)	MRAS (G23R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 560679	NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)	RIT1 (G78E +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 543999	NM_030662.4(MAP2K2):c.692G>A (p.Arg231His)	MAP2K2 (R231H)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance FDA Recognized database
Select item 506444	NM_006767.4(LZTR1):c.2373C>T (p.His791=)	LZTR1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign 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 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 477669	NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	PTPN11 (I56T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 448954	NM_030662.4(MAP2K2):c.45C>T (p.Asn15=)	LOC130063193, MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448953	NM_030662.4(MAP2K2):c.141C>T (p.Asp47=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 448952	NM_030662.4(MAP2K2):c.225C>T (p.Ile75=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 448950	NM_030662.4(MAP2K2):c.847G>T (p.Val283Leu)	MAP2K2 (V283L)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448949	NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 448948	NM_002755.4(MAP2K1):c.896-5T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign 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 448946	NM_005633.4(SOS1):c.225A>G (p.Gln75=)	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 448944	NM_005633.4(SOS1):c.294G>A (p.Lys98=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign 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 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 448941	NM_005633.4(SOS1):c.3072C>T (p.Leu1024=)	SOS1	Single nucleotide variant (synonymous 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 448939	NM_005633.4(SOS1):c.3552T>G (p.Pro1184=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign 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 448937	NM_007373.4(SHOC2):c.1540+8C>A	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448936	NM_007373.4(SHOC2):c.1540+8C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448935	NM_007373.4(SHOC2):c.894A>C (p.Ala298=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 448934	NM_007373.4(SHOC2):c.886C>T (p.Leu296=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 448933	NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala)	SHOC2 (T205A)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448932	NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile)	SHOC2 (T126I)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 448931	NM_007373.4(SHOC2):c.363G>A (p.Glu121=)	SHOC2	Single nucleotide variant (synonymous variant)	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 448929	NM_002880.4(RAF1):c.581+4A>G	RAF1	Single nucleotide variant (intron variant)	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 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 448926	NM_005343.4(HRAS):c.291-6T>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 448924	NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly)	BRAF (R384G +4 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 448922	NM_002834.5(PTPN11):c.643-6dup	PTPN11	Duplication (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 445735	NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)	SOS2 (I1252del)	Deletion (inframe_deletion)	RASopathy	GBenign FDA Recognized database
Select item 438796	NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	KRAS (S65I)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 436446	NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 427633	NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)	PPP1CB (A56P)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 417225	NM_004333.6(BRAF):c.976A>G (p.Ile326Val)	BRAF (I326V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 389759	NM_002755.4(MAP2K1):c.438+8A>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 380330	NM_002524.5(NRAS):c.36T>G (p.Gly12=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 378913	NM_030662.4(MAP2K2):c.240G>A (p.Ala80=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 378108	NM_030662.4(MAP2K2):c.813C>T (p.Asp271=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 375981	NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	MAP2K1 (P124S)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 375946	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	BRAF (D594V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 373121	NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)	SOS2 (R225Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 373089	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	LZTR1 (R412C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 372656	NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)	SOS1 (R552W +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 359048	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	BRAF, LOC126860202 (I342V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance 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 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 307226	NM_002834.5(PTPN11):c.951G>A (p.Lys317=)	PTPN11	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 289969	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1 (R362*)	Single nucleotide variant (nonsense)	RASopathy	GLikely pathogenic 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 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 280939	NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)	PTPN11 (L261R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 280446	NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	MAP2K1 (R108L)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 280033	NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	BRAF (T599R +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 279960	NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)	MAP2K2 (T396M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 261928	NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 259747	NM_005343.4(HRAS):c.369C>T (p.Arg123=)	HRAS, LRRC56 (A17V)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 254648	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB (P49R)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic 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 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 228273	NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	MAP2K1 (N122D)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 222971	NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	NRAS (I24N)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic 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 222076	NM_005343.4(HRAS):c.36C>T (p.Gly12=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 209092	NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	SOS2 (M267K)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 209088	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1 (G248R)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic 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 181766	NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)	PTPN11 (R343Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign 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 181528	NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	SHOC2 (M173I)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 181526	NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)	SHOC2 (E13A)	Single nucleotide variant (missense variant)	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 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 180905	NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)	MAP2K2 (R179W)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 180895	NM_002755.4(MAP2K1):c.1068+9A>G	SNAPC5, MAP2K1	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 180859	NM_004985.5(KRAS):c.508A>T (p.Met170Leu)	KRAS (M170L)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database

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