ClinVar for Gene (Select 5605) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3061850	NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val)	MAP2K2 (G135V)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GLikely pathogenic
Select item 3026736	NM_030662.4(MAP2K2):c.288C>T (p.Leu96=)	MAP2K2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021502	NM_030662.4(MAP2K2):c.1090A>G (p.Thr364Ala)	MAP2K2 (T364A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3020163	NM_030662.4(MAP2K2):c.58G>A (p.Glu20Lys)	LOC130063193, MAP2K2 (E20K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3019195	NM_030662.4(MAP2K2):c.917G>T (p.Ser306Ile)	MAP2K2 (S306I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3017363	NM_030662.4(MAP2K2):c.919+12A>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3016784	NM_030662.4(MAP2K2):c.183A>G (p.Lys61=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3014587	NM_030662.4(MAP2K2):c.985-18C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3011003	NM_030662.4(MAP2K2):c.1047-20C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3006138	NM_030662.4(MAP2K2):c.92+15G>A	LOC130063193, MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3001257	NM_030662.4(MAP2K2):c.97A>C (p.Asn33His)	MAP2K2 (N33H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2999228	NM_030662.4(MAP2K2):c.451-20_451-17del	MAP2K2	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2998814	NM_030662.4(MAP2K2):c.739C>T (p.Gln247Ter)	MAP2K2 (Q247*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2998780	NM_030662.4(MAP2K2):c.304-11T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2988360	NM_030662.4(MAP2K2):c.304-10C>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2986945	NM_030662.4(MAP2K2):c.539G>A (p.Gly180Asp)	MAP2K2 (G180D)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2986623	NM_030662.4(MAP2K2):c.572T>C (p.Met191Thr)	MAP2K2 (M191T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2984833	NM_030662.4(MAP2K2):c.528+15G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2984633	NM_030662.4(MAP2K2):c.708G>A (p.Pro236=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2981896	NM_030662.4(MAP2K2):c.185C>T (p.Ala62Val)	MAP2K2 (A62V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2979927	NM_030662.4(MAP2K2):c.1197C>G (p.Ala399=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2977294	NM_030662.4(MAP2K2):c.450+3G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2969795	NM_030662.4(MAP2K2):c.705+11G>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2968748	NM_030662.4(MAP2K2):c.1193C>G (p.Thr398Ser)	MAP2K2 (T398S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2964957	NM_030662.4(MAP2K2):c.946A>G (p.Met316Val)	MAP2K2 (M316V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2961761	NM_030662.4(MAP2K2):c.363C>A (p.Val121=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2957235	NM_030662.4(MAP2K2):c.1085T>G (p.Met362Arg)	MAP2K2 (M362R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2956034	NM_030662.4(MAP2K2):c.996G>A (p.Lys332=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2955756	NM_030662.4(MAP2K2):c.920-12C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2955375	NM_030662.4(MAP2K2):c.920-18A>G	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2920917	NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)	MAP2K2 (G217A)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GUncertain significance
Select item 2918956	NM_030662.4(MAP2K2):c.984+12A>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2916460	NM_030662.4(MAP2K2):c.363C>G (p.Val121=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2915393	NM_030662.4(MAP2K2):c.591C>G (p.Pro197=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2913560	NM_030662.4(MAP2K2):c.305T>C (p.Leu102Pro)	MAP2K2 (L102P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2913078	NM_030662.4(MAP2K2):c.660C>T (p.Ile220=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2912384	NM_030662.4(MAP2K2):c.1181C>T (p.Thr394Ile)	MAP2K2 (T394I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2908595	NM_030662.4(MAP2K2):c.1041T>C (p.Asn347=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2908350	NM_030662.4(MAP2K2):c.543G>A (p.Leu181=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2905801	NM_030662.4(MAP2K2):c.1031A>G (p.Glu344Gly)	MAP2K2 (E344G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2901274	NM_030662.4(MAP2K2):c.705+16C>G	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2900667	NM_030662.4(MAP2K2):c.600C>T (p.Ile200=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2899737	NM_030662.4(MAP2K2):c.874C>T (p.His292Tyr)	MAP2K2 (H292Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2898952	NM_030662.4(MAP2K2):c.791G>A (p.Arg264Lys)	MAP2K2 (R264K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2898766	NM_030662.4(MAP2K2):c.1157C>A (p.Thr386Asn)	MAP2K2 (T386N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2898646	NM_030662.4(MAP2K2):c.919+20C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2896051	NM_030662.4(MAP2K2):c.630G>A (p.Leu210=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2896001	NM_030662.4(MAP2K2):c.528G>C (p.Ala176=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GUncertain significance
Select item 2895554	NM_030662.4(MAP2K2):c.626A>G (p.Lys209Arg)	MAP2K2 (K209R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2894153	NM_030662.4(MAP2K2):c.532C>G (p.Leu178Val)	MAP2K2 (L178V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2886225	NM_030662.4(MAP2K2):c.1046+12C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2885705	NM_030662.4(MAP2K2):c.1050C>T (p.Leu350=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2884735	NM_030662.4(MAP2K2):c.854A>T (p.Asp285Val)	MAP2K2 (D285V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2883627	NM_030662.4(MAP2K2):c.165A>G (p.Glu55=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2882490	NM_030662.4(MAP2K2):c.1178G>T (p.Gly393Val)	MAP2K2 (G393V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2877848	NM_030662.4(MAP2K2):c.270G>T (p.Gln90His)	MAP2K2 (Q90H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2870053	NM_030662.4(MAP2K2):c.1190G>T (p.Arg397Leu)	MAP2K2 (R397L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2866893	NM_030662.4(MAP2K2):c.999G>T (p.Leu333=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2864989	NM_030662.4(MAP2K2):c.990T>C (p.Pro330=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2863740	NM_030662.4(MAP2K2):c.594C>T (p.Ser198=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GUncertain significance
Select item 2858992	NM_030662.4(MAP2K2):c.162G>A (p.Leu54=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2851168	NM_030662.4(MAP2K2):c.674A>T (p.Asn225Ile)	MAP2K2 (N225I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2844347	NM_030662.4(MAP2K2):c.30G>C (p.Pro10=)	LOC130063193, MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2843440	NM_030662.4(MAP2K2):c.1150T>C (p.Cys384Arg)	MAP2K2 (C384R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2842098	NM_030662.4(MAP2K2):c.536_537delinsTT (p.Arg179Leu)	MAP2K2 (R179L)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 2841520	NM_030662.4(MAP2K2):c.234G>A (p.Leu78=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2838666	NM_030662.4(MAP2K2):c.61G>C (p.Gly21Arg)	LOC130063193, MAP2K2 (G21R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2834959	NM_030662.4(MAP2K2):c.513G>A (p.Gly171=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2833639	NM_030662.4(MAP2K2):c.567dup (p.Ile190fs)	MAP2K2 (I190fs)	Duplication (frameshift variant)	RASopathy	GUncertain significance
Select item 2832213	NM_030662.4(MAP2K2):c.886C>T (p.Pro296Ser)	MAP2K2 (P296S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2824273	NM_030662.4(MAP2K2):c.694T>A (p.Ser232Thr)	MAP2K2 (S232T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2822077	NM_030662.4(MAP2K2):c.451-4C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2816445	NM_030662.4(MAP2K2):c.1105A>C (p.Ile369Leu)	MAP2K2 (I369L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2815389	NM_030662.4(MAP2K2):c.166G>A (p.Ala56Thr)	MAP2K2 (A56T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2810370	NM_030662.4(MAP2K2):c.450+8C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2807965	NM_030662.4(MAP2K2):c.956T>C (p.Phe319Ser)	MAP2K2 (F319S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2805558	NM_030662.4(MAP2K2):c.255G>A (p.Val85=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2796983	NM_030662.4(MAP2K2):c.659_660delinsCA (p.Ile220Thr)	MAP2K2 (I220T)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 2779329	NM_030662.4(MAP2K2):c.92+18A>T	LOC130063193, MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2778156	NM_030662.4(MAP2K2):c.157C>T (p.Arg53Trp)	MAP2K2 (R53W)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2777650	NM_030662.4(MAP2K2):c.806C>A (p.Pro269Gln)	MAP2K2 (P269Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2771423	NM_030662.4(MAP2K2):c.537G>A (p.Arg179=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2771388	NM_030662.4(MAP2K2):c.985-15T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2770949	NM_030662.4(MAP2K2):c.1123G>T (p.Glu375Ter)	MAP2K2 (E375*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2768026	NM_030662.4(MAP2K2):c.713G>A (p.Arg238Gln)	MAP2K2 (R238Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2766074	NM_030662.4(MAP2K2):c.655C>G (p.Leu219Val)	MAP2K2 (L219V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2764236	NM_030662.4(MAP2K2):c.548A>G (p.Tyr183Cys)	MAP2K2 (Y183C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2763220	NM_030662.4(MAP2K2):c.386A>G (p.Tyr129Cys)	MAP2K2 (Y129C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2761891	NM_030662.4(MAP2K2):c.110T>A (p.Leu37Gln)	MAP2K2 (L37Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2757237	NM_030662.4(MAP2K2):c.21G>A (p.Pro7=)	LOC130063193, MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2754421	NM_030662.4(MAP2K2):c.924C>G (p.His308Gln)	MAP2K2 (H308Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2752458	NM_030662.4(MAP2K2):c.900C>T (p.Pro300=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2750793	NM_030662.4(MAP2K2):c.188A>C (p.Lys63Thr)	MAP2K2 (K63T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2750286	NM_030662.4(MAP2K2):c.706-15C>G	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2746488	NM_030662.4(MAP2K2):c.304-4G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2743793	NM_030662.4(MAP2K2):c.984+15C>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2743214	NM_030662.4(MAP2K2):c.919+7C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2740675	NM_030662.4(MAP2K2):c.855C>T (p.Asp285=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2740447	NM_030662.4(MAP2K2):c.528+19_528+20inv	MAP2K2	Inversion (intron variant)	RASopathy	GUncertain significance

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