ClinVar for Gene (Select 6654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 condition	GUncertain significance
Select item 3025206	NM_001145451.5(ARHGEF33):c.2343+2201C>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	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	GUncertain significance
Select item 2993189	NM_005633.4(SOS1):c.3272C>G (p.Pro1091Arg)	SOS1 (P1084R +1 more)	Single nucleotide variant (missense variant)	RASopathy	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 (missense 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
Select item 2969797	NM_005633.4(SOS1):c.782G>A (p.Gly261Asp)	SOS1 (G254D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2968749	NM_005633.4(SOS1):c.3392-16A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2967943	NM_005633.4(SOS1):c.1248A>G (p.Gln416=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2967779	NM_005633.4(SOS1):c.3100C>A (p.Pro1034Thr)	SOS1 (P1027T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2966467	NM_005633.4(SOS1):c.3347-11_3347-10dup	SOS1	Duplication (intron variant)	RASopathy	GLikely benign
Select item 2964262	NM_005633.4(SOS1):c.346-10A>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2963238	NM_005633.4(SOS1):c.3160A>T (p.Thr1054Ser)	SOS1 (T1047S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2963030	NM_005633.4(SOS1):c.346-15_346-11del	SOS1	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2962920	NM_005633.4(SOS1):c.2097C>T (p.His699=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2958954	NM_005633.4(SOS1):c.945A>G (p.Leu315=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2958941	NM_005633.4(SOS1):c.3391+12T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2957800	NM_005633.4(SOS1):c.2804C>G (p.Thr935Ser)	SOS1 (T935S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2921239	NM_005633.4(SOS1):c.3392-14T>G	SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921124	NM_005633.4(SOS1):c.1203-18T>A	SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919360	NM_005633.4(SOS1):c.3220G>A (p.Glu1074Lys)	SOS1 (E1074K +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2919131	NM_005633.4(SOS1):c.2249ATA[1] (p.Asn751del)	SOS1 (N744del +1 more)	Microsatellite (inframe_deletion)	RASopathy	GUncertain significance
Select item 2917324	NM_005633.4(SOS1):c.117G>A (p.Glu39=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2913878	NM_005633.4(SOS1):c.1859-8C>A	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2912026	NM_005633.4(SOS1):c.433G>A (p.Val145Ile)	SOS1 (V145I +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2910798	NM_005633.4(SOS1):c.554T>C (p.Ile185Thr)	SOS1 (I185T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2907314	NM_005633.4(SOS1):c.198T>G (p.Ser66Arg)	SOS1 (S59R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2906253	NM_005633.4(SOS1):c.2305G>C (p.Gly769Arg)	SOS1 (G762R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2905197	NM_005633.4(SOS1):c.2922C>T (p.Tyr974=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2904993	NM_005633.4(SOS1):c.1150C>G (p.Gln384Glu)	SOS1 (Q384E +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2904152	NM_005633.4(SOS1):c.1203-6T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2903082	NM_005633.4(SOS1):c.8C>T (p.Ala3Val)	LOC129933535, SOS1 (A3V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2899624	NM_005633.4(SOS1):c.1902T>C (p.Phe634=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2899427	NM_005633.4(SOS1):c.1814C>A (p.Thr605Asn)	SOS1 (T605N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2899279	NM_005633.4(SOS1):c.3298G>C (p.Asp1100His)	SOS1 (D1100H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2899186	NM_005633.4(SOS1):c.3347-19T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2895305	NM_005633.4(SOS1):c.3325C>A (p.His1109Asn)	SOS1 (H1109N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2895099	NM_005633.4(SOS1):c.2105A>C (p.Tyr702Ser)	SOS1 (Y695S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic
Select item 2894400	NM_005633.4(SOS1):c.2791+16T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2886295	NM_005633.4(SOS1):c.87+19C>G	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2885727	NM_005633.4(SOS1):c.1127C>G (p.Ala376Gly)	SOS1 (A376G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2881663	NM_005633.4(SOS1):c.192C>G (p.Pro64=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2872898	NM_005633.4(SOS1):c.1611G>C (p.Trp537Cys)	SOS1 (W530C +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2872861	NM_005633.4(SOS1):c.3318T>G (p.Asp1106Glu)	SOS1 (D1099E +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2872279	NM_005633.4(SOS1):c.87+16G>C	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2869184	NM_005633.4(SOS1):c.2280A>T (p.Thr760=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2869126	NM_005633.4(SOS1):c.3082-11T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2865030	NM_005633.4(SOS1):c.2571G>T (p.Glu857Asp)	SOS1 (E857D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2864764	NM_005633.4(SOS1):c.457del (p.Arg153fs)	SOS1 (R146fs +1 more)	Deletion (frameshift variant)	RASopathy	GUncertain significance
Select item 2863098	NM_005633.4(SOS1):c.3447C>G (p.Val1149=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2861970	NM_005633.4(SOS1):c.2546T>C (p.Val849Ala)	SOS1 (V842A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2860252	NM_005633.4(SOS1):c.1235T>C (p.Met412Thr)	SOS1 (M405T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2860053	NM_005633.4(SOS1):c.3081+6C>T	SOS1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2859156	NM_005633.4(SOS1):c.3175G>C (p.Glu1059Gln)	SOS1 (E1059Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2857004	NM_005633.4(SOS1):c.1113A>G (p.Glu371=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign
Select item 2856773	NM_005633.4(SOS1):c.3980T>C (p.Leu1327Ser)	SOS1 (L1320S +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2856475	NM_005633.4(SOS1):c.2673+20_2673+27del	SOS1	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2856115	NM_005633.4(SOS1):c.1604A>C (p.Asn535Thr)	SOS1 (N528T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign
Select item 2855286	NM_005633.4(SOS1):c.1107C>T (p.Asp369=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2854608	NM_005633.4(SOS1):c.1858+10A>T	SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2853242	NM_005633.4(SOS1):c.1166A>C (p.Lys389Thr)	SOS1 (K382T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2852964	NM_005633.4(SOS1):c.911G>A (p.Arg304Gln)	SOS1 (R304Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign
Select item 2852039	NM_005633.4(SOS1):c.2316G>A (p.Glu772=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2848362	NM_005633.4(SOS1):c.482A>G (p.Asp161Gly)	SOS1 (D154G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2847614	NM_005633.4(SOS1):c.777A>G (p.Leu259=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2840337	NM_005633.4(SOS1):c.392T>G (p.Val131Gly)	SOS1 (V124G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2839556	NM_005633.4(SOS1):c.2167+6T>A	SOS1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2832451	NM_005633.4(SOS1):c.228_229del (p.Ser77fs)	SOS1 (S77fs +1 more)	Deletion (frameshift variant)	RASopathy	GUncertain significance
Select item 2829821	NM_005633.4(SOS1):c.11A>G (p.Gln4Arg)	LOC129933535, SOS1 (Q4R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2829275	NM_005633.4(SOS1):c.311C>A (p.Ser104Tyr)	SOS1 (S104Y +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2828656	NM_005633.4(SOS1):c.2803A>C (p.Thr935Pro)	SOS1 (T935P +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance

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