ClinVar for Gene (Select 6655) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1532

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	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 condition	GUncertain significance
Select item 3053653	NM_006939.4(SOS2):c.2613G>A (p.Glu871=)	SOS2	Single nucleotide variant (synonymous variant)	SOS2-related condition	GLikely benign
Select item 3039811	NM_006939.4(SOS2):c.868T>C (p.Phe290Leu)	SOS2 (F290L)	Single nucleotide variant (missense variant)	SOS2-related condition	GUncertain significance
Select item 3035535	NM_006939.4(SOS2):c.2786-4C>A	SOS2	Single nucleotide variant (intron variant)	SOS2-related condition	GLikely benign
Select item 3032558	NM_006939.4(SOS2):c.2790A>T (p.Ile930=)	SOS2	Single nucleotide variant (synonymous variant)	SOS2-related condition	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 condition	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 +2 more	GLikely benign
Select item 3003268	NM_006939.4(SOS2):c.1242C>T (p.His414=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 3001622	NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)	SOS2 (D1156E +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 3000013	NM_006939.4(SOS2):c.1775G>C (p.Ser592Thr)	SOS2 (S559T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2999931	NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)	SOS2 (H1022Q +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 2999508	NM_006939.4(SOS2):c.468A>C (p.Glu156Asp)	SOS2 (E156D)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2999026	NM_006939.4(SOS2):c.345+3A>G	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GUncertain significance
Select item 2997215	NM_006939.4(SOS2):c.2959-4C>A	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2996644	NM_006939.4(SOS2):c.3574C>T (p.Pro1192Ser)	SOS2 (P1159S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2995150	NM_006939.4(SOS2):c.2785+13A>T	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2993808	NM_006939.4(SOS2):c.3107C>G (p.Pro1036Arg)	SOS2 (P1003R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2989396	NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2982685	NM_006939.4(SOS2):c.1196+7C>T	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2976557	NM_006939.4(SOS2):c.511-17T>A	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2976252	NM_006939.4(SOS2):c.346-11T>C	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2967412	NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)	SOS2 (P1211L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GLikely benign
Select item 2967270	NM_006939.4(SOS2):c.2667+20T>G	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2966007	NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)	SOS2 (F1227L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2964009	NM_006939.4(SOS2):c.2958+12C>T	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2962548	NM_006939.4(SOS2):c.3800C>T (p.Ser1267Phe)	SOS2 (S1267F +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2958292	NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)	SOS2 (K1001R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2958198	NM_006939.4(SOS2):c.1183A>T (p.Arg395Ter)	SOS2 (R362* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 9	GUncertain significance
Select item 2956813	NM_006939.4(SOS2):c.330C>A (p.Ile110=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2954577	NM_006939.4(SOS2):c.1370G>A (p.Arg457Gln)	SOS2 (R457Q +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2918489	NM_006939.4(SOS2):c.2214G>A (p.Lys738=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2918304	NM_006939.4(SOS2):c.2572C>A (p.Gln858Lys)	SOS2 (Q825K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2918294	NM_006939.4(SOS2):c.511-8T>C	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2917818	NM_006939.4(SOS2):c.3681T>C (p.Phe1227=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2917635	NM_006939.4(SOS2):c.2162-10C>G	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2916636	NM_006939.4(SOS2):c.3173C>G (p.Pro1058Arg)	SOS2 (P1058R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2916212	NM_006939.4(SOS2):c.715-12_715-8del	SOS2	Deletion (intron variant)	Noonan syndrome 9	GUncertain significance
Select item 2914649	NM_006939.4(SOS2):c.2313A>G (p.Thr771=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2914493	NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)	SOS2 (S636G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GLikely benign
Select item 2914347	NM_006939.4(SOS2):c.20C>G (p.Pro7Arg)	LOC130055588, SOS2 (P7R)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GLikely benign
Select item 2914258	NM_006939.4(SOS2):c.1852+6T>C	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GUncertain significance
Select item 2913013	NM_006939.4(SOS2):c.2162-15G>A	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2912279	NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2911091	NM_006939.4(SOS2):c.490G>A (p.Val164Met)	SOS2 (V164M)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2910867	NM_006939.4(SOS2):c.1464A>G (p.Leu488=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2910079	NM_006939.4(SOS2):c.1393T>G (p.Leu465Val)	SOS2 (L465V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2908785	NM_006939.4(SOS2):c.3027C>G (p.Asn1009Lys)	SOS2 (N976K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2906579	NM_006939.4(SOS2):c.106C>G (p.Pro36Ala)	SOS2 (P36A)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2906146	NM_006939.4(SOS2):c.2162-18T>C	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2905754	NM_006939.4(SOS2):c.15G>A (p.Pro5=)	LOC130055588, SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9	GLikely benign
Select item 2904513	NM_006939.4(SOS2):c.1888C>T (p.Arg630Cys)	SOS2 (R630C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2901922	NM_006939.4(SOS2):c.1069-14_1069-13del	SOS2	Deletion (intron variant)	Noonan syndrome 9	GLikely benign
Select item 2901447	NM_006939.4(SOS2):c.375T>C (p.His125=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9 +1 more	GLikely benign
Select item 2899887	NM_006939.4(SOS2):c.3286G>A (p.Ala1096Thr)	SOS2 (A1063T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2896631	NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)	SOS2 (I702V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GLikely benign
Select item 2895364	NM_006939.4(SOS2):c.1852+4T>C	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GUncertain significance
Select item 2894885	NM_006939.4(SOS2):c.280A>G (p.Ile94Val)	SOS2 (I94V)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 2894487	NM_006939.4(SOS2):c.511-16G>A	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign

<< First< Prev

Page of 16