ClinVar for Gene (Select 3815) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067845	NM_000222.3(KIT):c.1774+1G>T	KIT	Single nucleotide variant (splice donor variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 3066083	NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)	KIT (Y895* +5 more)	Single nucleotide variant (nonsense)	Piebaldism	GPathogenic
Select item 3065265	NM_000222.3(KIT):c.1823C>A (p.Ala608Asp)	KIT (A604D +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 3065151	NM_000222.3(KIT):c.1820C>A (p.Thr607Asn)	KIT (T603N +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3044158	NM_000222.3(KIT):c.-9G>T	KIT	Single nucleotide variant (5 prime UTR variant)	KIT-related condition	GLikely benign
Select item 3027151	NM_000222.3(KIT):c.447G>C (p.Lys149Asn)	KIT (K149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3024035	NM_000222.3(KIT):c.2411G>T (p.Arg804Leu)	KIT (R800L +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3023080	NM_000222.3(KIT):c.667C>T (p.Leu223Phe)	KIT (L223F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3021415	NM_000222.3(KIT):c.2233+19A>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3018799	NM_000222.3(KIT):c.925+17G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3017652	NM_000222.3(KIT):c.338-7del	KIT	Deletion (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3017641	NM_000222.3(KIT):c.68-4G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3017421	NM_000222.3(KIT):c.2790G>A (p.Glu930=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3016714	NM_000222.3(KIT):c.1569T>C (p.Thr523=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3016544	NM_000222.3(KIT):c.543G>A (p.Arg181=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3015352	NM_000222.3(KIT):c.2802+10C>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3014851	NM_000222.3(KIT):c.1146A>G (p.Leu382=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3014468	NM_000222.3(KIT):c.604del (p.Ile201_Leu202insTer)	KIT	Deletion (nonsense)	Gastrointestinal stromal tumor	GPathogenic
Select item 3012763	NM_000222.3(KIT):c.972T>C (p.Phe324=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3011051	NM_000222.3(KIT):c.903C>G (p.Val301=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3009981	NM_000222.3(KIT):c.2745A>T (p.Pro915=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3008684	NM_000222.3(KIT):c.586C>A (p.Leu196Met)	KIT (L196M)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3004710	NM_000222.3(KIT):c.2050A>G (p.Arg684Gly)	KIT (R684G +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3001742	NM_000222.3(KIT):c.2117T>C (p.Leu706Pro)	KIT (L702P +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3000623	NM_000222.3(KIT):c.1709A>G (p.Tyr570Cys)	KIT (Y566C +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2999051	NM_000222.3(KIT):c.1023C>G (p.Pro341=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2998613	NM_000222.3(KIT):c.437A>T (p.Tyr146Phe)	KIT (Y146F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2996310	NM_000222.3(KIT):c.1347-14T>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2995642	NM_000222.3(KIT):c.2910_2911delinsAA (p.Leu971Ile)	KIT (L970I +5 more)	Indel (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2993847	NM_000222.3(KIT):c.1491G>C (p.Val497=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2989926	NM_000222.3(KIT):c.2597-7G>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2989677	NM_000222.3(KIT):c.1755C>T (p.Pro585=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2989466	NM_000222.3(KIT):c.756+16C>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2988422	NM_000222.3(KIT):c.2177C>T (p.Pro726Leu)	KIT (P722L +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2987804	NM_000222.3(KIT):c.1648-15C>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2986243	NM_000222.3(KIT):c.1115+17G>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2984097	NM_000222.3(KIT):c.653A>G (p.Lys218Arg)	KIT (K218R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2983559	NM_000222.3(KIT):c.114C>T (p.Ser38=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2963962	NM_000222.3(KIT):c.624C>G (p.Phe208Leu)	KIT (F208L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2962455	NM_000222.3(KIT):c.1474A>G (p.Lys492Glu)	KIT (K492E +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2959884	NM_000222.3(KIT):c.1520C>T (p.Ala507Val)	KIT (A507V +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2957753	NM_000222.3(KIT):c.678G>T (p.Gly226=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2956142	NM_000222.3(KIT):c.2142-17T>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2917571	NM_000222.3(KIT):c.481A>G (p.Arg161Gly)	KIT (R161G)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2917496	NM_000222.3(KIT):c.1116-12T>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2916130	NM_000222.3(KIT):c.2414T>C (p.Ile805Thr)	KIT (I804T +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2915282	NM_000222.3(KIT):c.756+13C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2914715	NM_000222.3(KIT):c.2512C>T (p.Pro838Ser)	KIT (P834S +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2912789	NM_000222.3(KIT):c.2179G>A (p.Gly727Arg)	KIT (G728R +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2912110	NM_000222.3(KIT):c.1347-16_1347-14del	KIT	Deletion (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2910708	NM_000222.3(KIT):c.963T>C (p.Thr321=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2905816	NM_000222.3(KIT):c.1523T>A (p.Phe508Tyr)	KIT (F508Y +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2904768	NM_000222.3(KIT):c.1536C>G (p.Asn512Lys)	KIT (N513K +1 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2903913	NM_000222.3(KIT):c.1647+16T>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2901563	NM_000222.3(KIT):c.1346+19G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2900241	NM_000222.3(KIT):c.1990+18C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2900209	NM_000222.3(KIT):c.1905A>G (p.Glu635=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2899275	NM_000222.3(KIT):c.821C>A (p.Thr274Lys)	KIT (T275K +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2897337	NM_000222.3(KIT):c.1017A>T (p.Ala339=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2897066	NM_000222.3(KIT):c.2697-12C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2896743	NM_000222.3(KIT):c.2596+17C>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2896655	NM_000222.3(KIT):c.2922C>G (p.Asp974Glu)	KIT (D971E +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2894252	NM_000222.3(KIT):c.759T>C (p.Thr253=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2892835	NM_000222.3(KIT):c.646G>A (p.Val216Met)	KIT (V216M)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2891604	NM_000222.3(KIT):c.1182G>A (p.Val394=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2891170	NM_000222.3(KIT):c.1346+8G>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2888724	NM_000222.3(KIT):c.1360G>A (p.Val454Ile)	KIT (V454I +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2887061	NM_000222.3(KIT):c.1452G>A (p.Lys484=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2885572	NM_000222.3(KIT):c.107C>T (p.Pro36Leu)	KIT (P36L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2883162	NM_000222.3(KIT):c.1115+14C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2883126	NM_000222.3(KIT):c.1116-15G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2883078	NM_000222.3(KIT):c.619+13_619+16del	KIT	Microsatellite (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2881743	NM_000222.3(KIT):c.1232-13T>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2881375	NM_000222.3(KIT):c.2085A>G (p.Glu695=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2880405	NM_000222.3(KIT):c.2865G>A (p.Val955=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2879311	NM_000222.3(KIT):c.2604C>T (p.Ser868=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2878800	NM_000222.3(KIT):c.16G>A (p.Gly6Ser)	KIT (G6S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2878091	NM_000222.3(KIT):c.540T>C (p.His180=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2877931	NM_000222.3(KIT):c.2102C>T (p.Ala701Val)	KIT (A697V +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2877918	NM_000222.3(KIT):c.1648-14C>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2877394	NM_000222.3(KIT):c.337+16T>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2876754	NM_000222.3(KIT):c.1258A>G (p.Arg420Gly)	KIT (R421G +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2875891	NM_000222.3(KIT):c.144C>G (p.Val48=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2875737	NM_000222.3(KIT):c.1369G>A (p.Val457Met)	KIT (V457M +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2874271	NM_000222.3(KIT):c.1577T>C (p.Leu526Pro)	KIT (L526P +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2873618	NM_000222.3(KIT):c.2361+20T>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2870615	NM_000222.3(KIT):c.965C>T (p.Thr322Ile)	KIT (T322I +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2869454	NM_000222.3(KIT):c.2596+8G>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2869222	NM_000222.3(KIT):c.2254G>A (p.Val752Met)	KIT (V748M +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2866888	NM_000222.3(KIT):c.2680C>A (p.His894Asn)	KIT (H889N +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2866625	NM_000222.3(KIT):c.2916G>C (p.Val972=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2866553	NM_000222.3(KIT):c.1852A>C (p.Met618Leu)	KIT (M615L +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2866316	NM_000222.3(KIT):c.791A>G (p.His264Arg)	KIT (H264R +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2865541	NM_000222.3(KIT):c.673del (p.Glu225fs)	KIT (E225fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor	GPathogenic
Select item 2864139	NM_000222.3(KIT):c.630T>C (p.Ala210=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2863618	NM_000222.3(KIT):c.2351C>A (p.Ala784Asp)	KIT (A780D +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2861645	NM_000222.3(KIT):c.757-13C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2861156	NM_000222.3(KIT):c.1447T>A (p.Phe483Ile)	KIT (F484I +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2860573	NM_000222.3(KIT):c.1072A>G (p.Lys358Glu)	KIT (K358E +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance

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