ClinVar for Gene (Select 6655) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381476	NM_006939.4(SOS2):c.2272C>T (p.Pro758Ser)	SOS2 (P725S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377759	NM_006939.4(SOS2):c.3542C>T (p.Pro1181Leu)	SOS2 (P1148L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3372665	NM_006939.4(SOS2):c.3872C>G (p.Pro1291Arg)	SOS2 (P1258R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369350	NM_006939.4(SOS2):c.1236C>G (p.Ser412Arg)	SOS2 (S379R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368914	NM_006939.4(SOS2):c.3652C>T (p.Pro1218Ser)	SOS2 (P1185S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368609	NM_006939.4(SOS2):c.2474A>G (p.His825Arg)	SOS2 (H792R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367684	NM_006939.4(SOS2):c.3586T>A (p.Phe1196Ile)	SOS2 (F1163I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366340	NM_006939.4(SOS2):c.782T>C (p.Ile261Thr)	SOS2 (I261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366214	NM_006939.4(SOS2):c.1690C>A (p.Pro564Thr)	SOS2 (P531T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366189	NM_006939.4(SOS2):c.3380-2A>C	SOS2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3366072	NM_006939.4(SOS2):c.883A>G (p.Thr295Ala)	SOS2 (T295A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363585	NM_006939.4(SOS2):c.2153G>A (p.Ser718Asn)	SOS2 (S685N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361386	NM_006939.4(SOS2):c.2546T>A (p.Val849Glu)	SOS2 (V816E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360387	NM_006939.4(SOS2):c.448T>C (p.Phe150Leu)	SOS2 (F150L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359622	NM_006939.4(SOS2):c.2704G>C (p.Ala902Pro)	SOS2 (A869P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359614	NM_006939.4(SOS2):c.3133_3134del (p.His1045fs)	SOS2 (H1012fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3358321	NM_006939.4(SOS2):c.1190G>A (p.Arg397Gln)	SOS2 (R364Q +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3353423	NM_006939.4(SOS2):c.1764C>G (p.Asp588Glu)	SOS2 (D555E +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3352121	NM_006939.4(SOS2):c.2129A>G (p.Glu710Gly)	SOS2 (E677G +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3350094	NM_006939.4(SOS2):c.763G>C (p.Val255Leu)	SOS2 (V255L)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3347595	NM_006939.4(SOS2):c.814A>C (p.Ser272Arg)	SOS2 (S272R)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3347543	NM_006939.4(SOS2):c.1358C>G (p.Ala453Gly)	SOS2 (A420G +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3346663	NM_006939.4(SOS2):c.2385G>A (p.Arg795=)	SOS2	Single nucleotide variant (synonymous variant)	SOS2-related disorder	GUncertain significance
Select item 3345809	NM_006939.4(SOS2):c.1960A>G (p.Thr654Ala)	SOS2 (T621A +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3340741	NM_006939.4(SOS2):c.2584G>C (p.Asp862His)	SOS2 (D829H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339439	NM_006939.4(SOS2):c.3326A>C (p.Asn1109Thr)	SOS2 (N1076T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321571	NM_006939.4(SOS2):c.3565G>A (p.Val1189Ile)	SOS2 (V1156I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321570	NM_006939.4(SOS2):c.3106C>T (p.Pro1036Ser)	SOS2 (P1003S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321569	NM_006939.4(SOS2):c.3086C>T (p.Ser1029Leu)	SOS2 (S1029L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321568	NM_006939.4(SOS2):c.3013G>A (p.Asp1005Asn)	SOS2 (D1005N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321567	NM_006939.4(SOS2):c.2475T>A (p.His825Gln)	SOS2 (H792Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321566	NM_006939.4(SOS2):c.2395C>T (p.Pro799Ser)	SOS2 (P766S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321564	NM_006939.4(SOS2):c.2687G>A (p.Arg896Lys)	SOS2 (R863K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321563	NM_006939.4(SOS2):c.3616C>A (p.Pro1206Thr)	SOS2 (P1206T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321562	NM_006939.4(SOS2):c.1079C>T (p.Ala360Val)	SOS2 (A327V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321561	NM_006939.4(SOS2):c.3134A>G (p.His1045Arg)	SOS2 (H1012R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321560	NM_006939.4(SOS2):c.1737C>T (p.Asp579=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3321559	NM_006939.4(SOS2):c.3617C>A (p.Pro1206Gln)	SOS2 (P1206Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321557	NM_006939.4(SOS2):c.3778A>G (p.Ser1260Gly)	SOS2 (S1227G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321556	NM_006939.4(SOS2):c.215A>C (p.Glu72Ala)	SOS2 (E72A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321555	NM_006939.4(SOS2):c.180C>T (p.Cys60=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3321554	NM_006939.4(SOS2):c.1208G>T (p.Cys403Phe)	SOS2 (C403F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3253568	NM_006939.4(SOS2):c.16C>T (p.Gln6Ter)	LOC130055588, SOS2 (Q6*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3250822	NM_006939.4(SOS2):c.3706C>T (p.Pro1236Ser)	SOS2 (P1203S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244042	NC_000014.8:g.(?_50649161)_(50655438_?)dup	SOS2	Duplication	Noonan syndrome 9	GUncertain significance
Select item 3244041	NC_000014.8:g.(?_50596659)_(50606797_?)dup	SOS2	Duplication	Noonan syndrome 9	GUncertain significance
Select item 3244040	NC_000014.8:g.(?_50697895)_(51288774_?)dup	ATL1, CDKL1 +6 more	Duplication	Noonan syndrome 9	GUncertain significance
Select item 3244038	NC_000014.8:g.(?_50626129)_(50628347_?)del	SOS2	Deletion	Noonan syndrome 9	GUncertain significance
Select item 3236593	NM_006939.4(SOS2):c.3305T>G (p.Val1102Gly)	SOS2 (V1069G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3234105	NM_006939.4(SOS2):c.1331T>A (p.Met444Lys)	SOS2 (M411K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3233701	NM_006939.4(SOS2):c.570A>T (p.Glu190Asp)	SOS2 (E190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225975	NM_006939.4(SOS2):c.874C>T (p.Pro292Ser)	SOS2 (P292S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225974	NM_006939.4(SOS2):c.82C>G (p.Arg28Gly)	LOC130055588, SOS2 (R28G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225973	NM_006939.4(SOS2):c.825C>G (p.Pro275=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225972	NM_006939.4(SOS2):c.758T>C (p.Leu253Ser)	SOS2 (L253S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225971	NM_006939.4(SOS2):c.606T>C (p.Leu202=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225970	NM_006939.4(SOS2):c.5A>T (p.Gln2Leu)	LOC130055588, SOS2 (Q2L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225969	NM_006939.4(SOS2):c.37G>A (p.Glu13Lys)	LOC130055588, SOS2 (E13K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225968	NM_006939.4(SOS2):c.3784C>T (p.Pro1262Ser)	SOS2 (P1229S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225967	NM_006939.4(SOS2):c.3549A>G (p.Pro1183=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225966	NM_006939.4(SOS2):c.3415C>G (p.Leu1139Val)	SOS2 (L1106V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225965	NM_006939.4(SOS2):c.3332C>G (p.Ser1111Cys)	SOS2 (S1078C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225964	NM_006939.4(SOS2):c.3122A>T (p.Asn1041Ile)	SOS2 (N1008I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225963	NM_006939.4(SOS2):c.3000A>G (p.Glu1000=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225962	NM_006939.4(SOS2):c.2975T>C (p.Leu992Pro)	SOS2 (L959P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225961	NM_006939.4(SOS2):c.24C>T (p.Tyr8=)	LOC130055588, SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225960	NM_006939.4(SOS2):c.2441T>A (p.Ile814Lys)	SOS2 (I781K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225959	NM_006939.4(SOS2):c.2066A>G (p.Asn689Ser)	SOS2 (N656S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225958	NM_006939.4(SOS2):c.203A>G (p.Gln68Arg)	SOS2 (Q68R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225957	NM_006939.4(SOS2):c.1786A>T (p.Ile596Phe)	SOS2 (I563F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225956	NM_006939.4(SOS2):c.1720C>T (p.Arg574Cys)	SOS2 (R541C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225955	NM_006939.4(SOS2):c.1617T>A (p.Leu539=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3167643	NM_006939.4(SOS2):c.3838A>C (p.Ser1280Arg)	SOS2 (S1247R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3167642	NM_006939.4(SOS2):c.3722A>G (p.His1241Arg)	SOS2 (H1208R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3167640	NM_006939.4(SOS2):c.1784G>A (p.Gly595Asp)	SOS2 (G562D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3167639	NM_006939.4(SOS2):c.1772A>C (p.Gln591Pro)	SOS2 (Q558P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3167638	NM_006939.4(SOS2):c.1760A>C (p.Glu587Ala)	SOS2 (E587A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063930	NM_006939.4(SOS2):c.1069-12G>A	SOS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063888	NM_006939.4(SOS2):c.1323A>T (p.Glu441Asp)	SOS2 (E408D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063812	NM_006939.4(SOS2):c.1310A>G (p.Gln437Arg)	SOS2 (Q404R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061470	NM_006939.4(SOS2):c.-6G>C	LOC130055588, SOS2	Single nucleotide variant (5 prime UTR variant)	SOS2-related disorder	GLikely benign
Select item 3061038	NM_006939.4(SOS2):c.1306G>A (p.Gly436Arg)	SOS2 (G403R +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3053653	NM_006939.4(SOS2):c.2613G>A (p.Glu871=)	SOS2	Single nucleotide variant (synonymous variant)	SOS2-related disorder	GLikely benign
Select item 3039811	NM_006939.4(SOS2):c.868T>C (p.Phe290Leu)	SOS2 (F290L)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3035535	NM_006939.4(SOS2):c.2786-4C>A	SOS2	Single nucleotide variant (intron variant)	SOS2-related disorder	GLikely benign
Select item 3032558	NM_006939.4(SOS2):c.2790A>T (p.Ile930=)	SOS2	Single nucleotide variant (synonymous variant)	SOS2-related disorder	GLikely benign
Select item 3032101	NM_006939.4(SOS2):c.2653G>A (p.Asp885Asn)	SOS2 (D852N +1 more)	Single nucleotide variant (missense variant)	SOS2-related disorder	GUncertain significance
Select item 3023618	NM_006939.4(SOS2):c.462T>G (p.His154Gln)	SOS2 (H154Q)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3023261	NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)	SOS2 (P682L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3022927	NM_006939.4(SOS2):c.1957C>T (p.Pro653Ser)	SOS2 (P620S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3021082	NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)	SOS2 (P1285A +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GBenign
Select item 3020490	NM_006939.4(SOS2):c.2735A>G (p.Lys912Arg)	SOS2 (K912R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3020422	NM_006939.4(SOS2):c.2505A>G (p.Lys835=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GUncertain significance
Select item 3019523	NM_006939.4(SOS2):c.2034A>G (p.Glu678=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 3017103	NM_006939.4(SOS2):c.1230A>G (p.Leu410=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 3016795	NM_006939.4(SOS2):c.214-9A>G	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 3015722	NM_006939.4(SOS2):c.2162-12T>C	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 3013372	NM_006939.4(SOS2):c.3250A>C (p.Thr1084Pro)	SOS2 (T1051P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3012714	NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)	SOS2 (L455* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 9	GUncertain significance
Select item 3008789	NM_006939.4(SOS2):c.1227A>G (p.Gln409=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9 +1 more	GLikely benign

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