C5681679[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 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 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 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 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 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 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 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 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 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 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 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 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 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 45373	NM_005633.4(SOS1):c.512T>C (p.Val171Ala)	SOS1 (V171A +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic 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 40643	NM_005633.4(SOS1):c.195A>C (p.Arg65=)	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 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 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 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 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 178666	NM_002880.4(RAF1):c.1108+9_1108+21del	RAF1	Deletion (intron variant)	RASopathy	GBenign 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 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 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 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 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 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 40399	NM_004333.6(BRAF):c.2235A>G (p.Leu745=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40370	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	BRAF (L485S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 13974	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	BRAF (G469E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 40363	NM_004333.6(BRAF):c.1383A>G (p.Gln461=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40362	NM_004333.6(BRAF):c.1332G>A (p.Arg444=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40360	NM_004333.6(BRAF):c.1227A>G (p.Ser409=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	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 44788	NM_004333.6(BRAF):c.1068A>G (p.Gln356=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 44834	NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)	BRAF (S323L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 13973	NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	BRAF (Q257R +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 55793	NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 40349	NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)	BRAF (F247S +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 180784	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 44830	NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	BRAF (F247V +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 40348	NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 40347	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 44827	NM_004333.6(BRAF):c.708C>T (p.Asn236=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 178963	NM_004333.6(BRAF):c.622A>G (p.Ile208Val)	BRAF (I208V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 44825	NM_004333.6(BRAF):c.375T>G (p.Ser125=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 44833	NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)	BRAF (A31G)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40335	NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)	BRAF (D22N)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40333	NM_004333.6(BRAF):c.36G>A (p.Ala12=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic 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 139104	NM_007373.4(SHOC2):c.457C>T (p.Leu153=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 139109	NM_007373.4(SHOC2):c.1423-7C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 139110	NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)	SHOC2 (S532G +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40446	NM_005343.4(HRAS):c.477G>A (p.Leu159=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40442	NM_005343.4(HRAS):c.378A>G (p.Glu126=)	HRAS, LRRC56 (N20S)	Single nucleotide variant (synonymous variant +1 more)	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 40441	NM_005343.4(HRAS):c.357C>T (p.Asp119=)	HRAS, LRRC56 (T13I)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40440	NM_005343.4(HRAS):c.309G>A (p.Val103=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40437	NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)	HRAS, LRRC56 (N86T)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40431	NM_005343.4(HRAS):c.81T>C (p.His27=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic 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 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	LRRC56, HRAS (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 45129	NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)	KRAS (K180del)	Microsatellite (3 prime UTR variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 12589	NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	KRAS (V14I)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 44608	NM_002834.5(PTPN11):c.48A>G (p.Ala16=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 135112	NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)	PTPN11 (N18S)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40485	NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	PTPN11 (I56V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic 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 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13333	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11 (Y63C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 36708	NM_002834.5(PTPN11):c.255C>T (p.His85=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 44607	NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)	PTPN11 (K131R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 36709	NM_002834.5(PTPN11):c.526-8C>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database

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