ClinVar for Gene (Select 6654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361371	NM_005633.4(SOS1):c.1042T>G (p.Tyr348Asp)	SOS1 (Y341D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359524	NM_005633.4(SOS1):c.1535A>T (p.His512Leu)	SOS1 (H505L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355333	NM_005633.4(SOS1):c.335C>T (p.Pro112Leu)	SOS1 (P105L +1 more)	Single nucleotide variant (missense variant)	SOS1-related disorder	GUncertain significance
Select item 3347613	NM_005633.4(SOS1):c.162A>C (p.Gln54His)	SOS1 (Q47H +1 more)	Single nucleotide variant (missense variant)	SOS1-related disorder	GUncertain significance
Select item 3344728	NM_005633.4(SOS1):c.3779C>T (p.Pro1260Leu)	SOS1 (P1245L +2 more)	Single nucleotide variant (missense variant)	SOS1-related disorder	GUncertain significance
Select item 3342875	NM_005633.4(SOS1):c.671A>C (p.Lys224Thr)	SOS1 (K217T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342344	NM_005633.4(SOS1):c.573_575del (p.Glu192del)	SOS1 (E185del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3341777	NM_005633.4(SOS1):c.584C>T (p.Thr195Ile)	SOS1 (T188I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339860	NM_005633.4(SOS1):c.2437G>A (p.Asp813Asn)	SOS1 (D806N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339199	NM_005633.4(SOS1):c.3365T>C (p.Ile1122Thr)	SOS1 (I1115T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338752	NM_005633.4(SOS1):c.3938A>T (p.Glu1313Val)	SOS1 (E1298V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338720	NM_005633.4(SOS1):c.952C>A (p.Pro318Thr)	SOS1 (P311T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338701	NM_005633.4(SOS1):c.346G>A (p.Glu116Lys)	SOS1 (E116K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337611	NM_005633.4(SOS1):c.2435A>G (p.Glu812Gly)	SOS1 (E805G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336954	NM_005633.4(SOS1):c.305C>A (p.Pro102His)	SOS1 (P102H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336143	NM_005633.4(SOS1):c.3819G>A (p.Leu1273=)	SOS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336023	NM_005633.4(SOS1):c.110C>T (p.Thr37Ile)	SOS1 (T30I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321552	NM_005633.4(SOS1):c.2471T>C (p.Met824Thr)	SOS1 (M817T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321550	NM_005633.4(SOS1):c.579T>C (p.Pro193=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3321549	NM_005633.4(SOS1):c.173T>G (p.Met58Arg)	SOS1 (M51R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321548	NM_005633.4(SOS1):c.3704C>T (p.Pro1235Leu)	SOS1 (P1228L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321545	NM_005633.4(SOS1):c.1381A>G (p.Ile461Val)	SOS1 (I461V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321544	NM_005633.4(SOS1):c.1873C>T (p.Arg625Trp)	SOS1 (R625W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321543	NM_005633.4(SOS1):c.1730T>A (p.Phe577Tyr)	SOS1 (F577Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321542	NM_005633.4(SOS1):c.742C>G (p.Arg248Gly)	SOS1 (R241G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321541	NM_005633.4(SOS1):c.3632C>T (p.Pro1211Leu)	SOS1 (P1211L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321540	NM_005633.4(SOS1):c.1751A>G (p.Glu584Gly)	SOS1 (E577G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321539	NM_005633.4(SOS1):c.544G>T (p.Asp182Tyr)	SOS1 (D175Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321537	NM_005633.4(SOS1):c.3234T>G (p.Ser1078=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3321536	NM_005633.4(SOS1):c.3754A>G (p.Ser1252Gly)	SOS1 (S1245G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3321535	NM_005633.4(SOS1):c.3129A>G (p.Ser1043=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3254911	NM_005633.4(SOS1):c.1473_1474insAAAAAAAAA (p.Lys491_Glu492insLysLysLys)	SOS1	Insertion (inframe_insertion +1 more)	Noonan syndrome 4	GUncertain significance
Select item 3251176	NM_005633.4(SOS1):c.2006C>T (p.Pro669Leu)	SOS1 (P662L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250980	NM_005633.4(SOS1):c.2499G>T (p.Leu833=)	SOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250649	NM_005633.4(SOS1):c.1347T>C (p.Thr449=)	SOS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247422	NC_000002.11:g.(?_39212965)_(39347563_?)dup	SOS1, SOS1-IT1	Duplication	RASopathy	GPathogenic
Select item 3247421	NC_000002.11:g.(?_39212965)_(39262661_?)del	SOS1, SOS1-IT1	Deletion	RASopathy	GUncertain significance
Select item 3247420	NC_000002.11:g.(?_39278265)_(39347563_?)del	SOS1	Deletion	RASopathy	GUncertain significance
Select item 3237451	NM_005633.4(SOS1):c.2167+5dup	SOS1	Duplication (intron variant)	Noonan syndrome 4	GUncertain significance
Select item 3234898	NM_005633.4(SOS1):c.3399T>C (p.Ala1133=)	SOS1	Single nucleotide variant (synonymous variant)	Noonan syndrome 4	GUncertain significance
Select item 3233674	NM_005633.4(SOS1):c.*13T>C	SOS1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3224902	NM_005633.4(SOS1):c.88-4A>T	SOS1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3224901	NM_005633.4(SOS1):c.609T>C (p.Asp203=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224900	NM_005633.4(SOS1):c.605A>G (p.Tyr202Cys)	SOS1 (Y195C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224899	NM_005633.4(SOS1):c.3892A>G (p.Thr1298Ala)	SOS1 (T1283A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224897	NM_005633.4(SOS1):c.3853C>T (p.His1285Tyr)	SOS1 (H1270Y +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224896	NM_005633.4(SOS1):c.3758C>G (p.Pro1253Arg)	SOS1 (P1238R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224895	NM_005633.4(SOS1):c.3708C>T (p.Pro1236=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224894	NM_005633.4(SOS1):c.3598G>A (p.Asp1200Asn)	SOS1 (D1185N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224893	NM_005633.4(SOS1):c.3403G>A (p.Val1135Ile)	SOS1 (V1120I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224892	NM_005633.4(SOS1):c.3347-5C>T	SOS1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224891	NM_005633.4(SOS1):c.3280G>A (p.Gly1094Ser)	SOS1 (G1087S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224890	NM_005633.4(SOS1):c.3213T>A (p.Ser1071Arg)	SOS1 (S1064R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224889	NM_005633.4(SOS1):c.3163C>T (p.Pro1055Ser)	SOS1 (P1048S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224888	NM_005633.4(SOS1):c.3145A>G (p.Thr1049Ala)	SOS1 (T1042A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224887	NM_005633.4(SOS1):c.3130A>C (p.Asn1044His)	SOS1 (N1037H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224886	NM_005633.4(SOS1):c.3121C>T (p.Arg1041Cys)	SOS1 (R1034C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224885	NM_005633.4(SOS1):c.3101C>A (p.Pro1034His)	SOS1 (P1027H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224884	NM_005633.4(SOS1):c.3008A>G (p.Lys1003Arg)	SOS1 (K1003R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224883	NM_005633.4(SOS1):c.2613C>T (p.Val871=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224882	NM_005633.4(SOS1):c.2434G>A (p.Glu812Lys)	SOS1 (E805K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224881	NM_005633.4(SOS1):c.1053C>T (p.Leu351=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3167637	NM_005633.4(SOS1):c.964C>T (p.Leu322Phe)	SOS1 (L315F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3167636	NM_005633.4(SOS1):c.3416G>A (p.Ser1139Asn)	SOS1 (S1139N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3148852	GRCh37/hg19 2p22.1(chr2:39234590-40799474)x3	CDKL4, MAP4K3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3075829	NM_005633.4(SOS1):c.767G>A (p.Ser256Asn)	SOS1 (S249N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063992	NM_005633.4(SOS1):c.2045T>C (p.Ile682Thr)	SOS1 (I675T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063809	NM_005633.4(SOS1):c.2057A>G (p.Gln686Arg)	SOS1 (Q679R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063622	NM_005633.4(SOS1):c.214-18A>T	SOS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062621	GRCh37/hg19 2p22.1(chr2:39264431-39630997)x3	CDKL4, MAP4K3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3061909	NM_005633.4(SOS1):c.157T>G (p.Leu53Val)	SOS1 (L46V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GUncertain significance
Select item 3030485	NM_005633.4(SOS1):c.570C>G (p.Asp190Glu)	SOS1 (D183E +1 more)	Single nucleotide variant (missense variant)	SOS1-related disorder	GUncertain significance
Select item 3025206	NC_000002.12:g.38962849C>A	ARHGEF33, SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3020622	NM_005633.4(SOS1):c.982G>C (p.Gly328Arg)	SOS1 (G321R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
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 3019474	NM_005633.4(SOS1):c.2516T>C (p.Ile839Thr)	SOS1 (I832T +1 more)	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 3017799	NM_005633.4(SOS1):c.2390+18C>G	SOS1	Single nucleotide variant (intron variant)	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 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 3012947	NM_005633.4(SOS1):c.3810A>G (p.Arg1270=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3012487	NM_005633.4(SOS1):c.2168-11A>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3011255	NM_005633.4(SOS1):c.2633T>C (p.Met878Thr)	SOS1 (M871T +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 3005245	NM_005633.4(SOS1):c.3609_3614del (p.Ile1204_Ser1205del)	SOS1	Deletion (inframe_deletion)	RASopathy	GUncertain significance
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 3002375	NM_005633.4(SOS1):c.3945A>C (p.Thr1315=)	SOS1	Single nucleotide variant (synonymous 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 2995838	NM_005633.4(SOS1):c.563T>C (p.Leu188Ser)	SOS1 (L181S +1 more)	Single nucleotide variant (missense 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 +1 more	GUncertain significance
Select item 2993189	NM_005633.4(SOS1):c.3272C>G (p.Pro1091Arg)	SOS1 (P1084R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2988583	NM_005633.4(SOS1):c.1212A>G (p.Ala404=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2987025	NM_005633.4(SOS1):c.1988T>A (p.Ile663Lys)	SOS1 (I663K +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2986912	NM_005633.4(SOS1):c.3481T>C (p.Ser1161Pro)	SOS1 (S1146P +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2981163	NM_005633.4(SOS1):c.54G>C (p.Lys18Asn)	LOC129933535, SOS1 (K18N)	Single nucleotide variant (intron variant +1 more)	RASopathy	GUncertain significance
Select item 2977564	NM_005633.4(SOS1):c.213+11_213+12delinsAT	SOS1	Indel (intron variant)	RASopathy	GUncertain significance
Select item 2976786	NM_005633.4(SOS1):c.2131T>C (p.Leu711=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2970370	NM_005633.4(SOS1):c.1518C>T (p.Asp506=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign

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