ClinVar for Gene (Select 1956) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 3014

<< First< Prev

Page of 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245837	NC_000007.13:g.(?_55223503)_(55228051_?)dup	EGFR	Duplication	EGFR-related lung cancer	GUncertain significance
Select item 3245836	NC_000007.13:g.(?_55086971)_(55219075_?)dup	EGFR	Duplication	EGFR-related lung cancer	GUncertain significance
Select item 3245835	NC_000007.13:g.(?_55086971)_(55087078_?)dup	EGFR	Duplication	EGFR-related lung cancer	GUncertain significance
Select item 3245834	NC_000007.13:g.(?_55218977)_(55219065_?)del	EGFR	Deletion	EGFR-related lung cancer	GUncertain significance
Select item 3245832	NC_000007.13:g.(?_55266390)_(55266576_?)del	EGFR	Deletion	EGFR-related lung cancer	GUncertain significance
Select item 3245831	NC_000007.13:g.(?_55086755)_(55087068_?)del	EGFR	Deletion	EGFR-related lung cancer	GPathogenic
Select item 3236362	NM_005228.5(EGFR):c.976T>A (p.Cys326Ser)	EGFR (C273S +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2	GUncertain significance
Select item 3235697	NM_005228.5(EGFR):c.2612C>A (p.Ala871Glu)	EGFR (A604E +3 more)	Single nucleotide variant (missense variant)	Lung cancer	GUncertain significance
Select item 3224656	NM_005228.5(EGFR):c.2365A>G (p.Ile789Val)	EGFR, EGFR-AS1 (I522V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3068197	NM_005228.5(EGFR):c.2639G>C (p.Trp880Ser)	EGFR (W613S +3 more)	Single nucleotide variant (missense variant)	Lung cancer	GUncertain significance
Select item 3068138	NM_005228.5(EGFR):c.2701+1G>A	EGFR	Single nucleotide variant (splice donor variant)	Lung cancer	GUncertain significance
Select item 3043888	NM_005228.5(EGFR):c.3271+145C>T	EGFR	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related disorder	GLikely benign
Select item 3036197	NM_005228.5(EGFR):c.1881-689G>T	EGFR (S687I)	Single nucleotide variant (missense variant +1 more)	EGFR-related disorder	GUncertain significance
Select item 3032311	NM_005228.5(EGFR):c.402G>A (p.Glu134=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	EGFR-related disorder	GLikely benign
Select item 3030861	NM_005228.5(EGFR):c.*9G>A	EGFR	Single nucleotide variant (3 prime UTR variant)	EGFR-related disorder	GLikely benign
Select item 3030173	NM_005228.5(EGFR):c.1881-715G>A	EGFR	Single nucleotide variant (synonymous variant +1 more)	EGFR-related disorder	GLikely benign
Select item 3023650	NM_005228.5(EGFR):c.2821A>G (p.Ile941Val)	EGFR (I941V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3023649	NM_005228.5(EGFR):c.610GAG[1] (p.Glu205del)	EGFR (E160del +2 more)	Microsatellite (inframe_deletion +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 3022784	NM_005228.5(EGFR):c.432G>A (p.Leu144=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 3022756	NM_005228.5(EGFR):c.3597G>A (p.Arg1199=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3022603	NM_005228.5(EGFR):c.23G>A (p.Gly8Glu)	EGFR (G8E)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3022457	NM_005228.5(EGFR):c.1498+10C>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3022266	NM_005228.5(EGFR):c.1911A>T (p.Pro637=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3022056	NM_005228.5(EGFR):c.3005T>C (p.Met1002Thr)	EGFR (M735T +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3021943	NM_005228.5(EGFR):c.2010G>A (p.Arg670=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3021434	NM_005228.5(EGFR):c.2283+9C>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3021040	NM_005228.5(EGFR):c.1958C>A (p.Ala653Asp)	EGFR (A653D +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3020999	NM_005228.5(EGFR):c.3181A>C (p.Lys1061Gln)	EGFR (K1008Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3020526	NM_005228.5(EGFR):c.1298+3A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3020443	NM_005228.5(EGFR):c.3004A>G (p.Met1002Val)	EGFR (M735V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3020258	NM_005228.5(EGFR):c.2874C>T (p.Arg958=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3020166	NM_005228.5(EGFR):c.863G>A (p.Gly288Asp)	EGFR (G235D +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 3019805	NM_005228.5(EGFR):c.628+3A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3018243	NM_005228.5(EGFR):c.3466C>T (p.His1156Tyr)	EGFR (H1103Y +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3018200	NM_005228.5(EGFR):c.159G>A (p.Arg53=)	EGFR	Single nucleotide variant (synonymous variant +2 more)	EGFR-related lung cancer	GLikely benign
Select item 3017882	NM_005228.5(EGFR):c.3543C>G (p.Ala1181=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3015679	NM_005228.5(EGFR):c.2577C>A (p.Ala859=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3015149	NM_005228.5(EGFR):c.2947-5A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3015016	NM_005228.5(EGFR):c.68G>C (p.Arg23Pro)	EGFR (R23P)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3014442	NM_005228.5(EGFR):c.1007-8C>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3013911	NM_005228.5(EGFR):c.2036T>C (p.Leu679Pro)	EGFR (L626P +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3013787	NM_005228.5(EGFR):c.898G>A (p.Val300Met)	EGFR (V300M +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3013427	NM_005228.5(EGFR):c.3415C>T (p.Leu1139Phe)	EGFR (L872F +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3012404	NM_005228.5(EGFR):c.1080A>C (p.Lys360Asn)	EGFR, LOC126860048 (K307N +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3012073	NM_005228.5(EGFR):c.797dup (p.Leu267fs)	EGFR (L222fs +2 more)	Duplication (frameshift variant +1 more)	EGFR-related lung cancer	GPathogenic
Select item 3011781	NM_005228.5(EGFR):c.1134-15T>A	LOC126860048, EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3011604	NM_005228.5(EGFR):c.707G>A (p.Cys236Tyr)	EGFR (C236Y +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 3011099	NM_005228.5(EGFR):c.3486C>A (p.Ser1162Arg)	EGFR (S1109R +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3010972	NM_005228.5(EGFR):c.1881-14T>C	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3010441	NM_005228.5(EGFR):c.1290C>G (p.Thr430=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3010190	NM_005228.5(EGFR):c.1245G>C (p.Thr415=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3009473	NM_005228.5(EGFR):c.1631+15C>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3009100	NM_005228.5(EGFR):c.363C>G (p.Val121=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 3008785	NM_005228.5(EGFR):c.117G>C (p.Thr39=)	EGFR	Single nucleotide variant (synonymous variant +2 more)	EGFR-related lung cancer	GLikely benign
Select item 3008772	NM_005228.5(EGFR):c.1880+19A>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3008673	NM_005228.5(EGFR):c.2469+15G>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 3008329	NM_005228.5(EGFR):c.2062-3C>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 3007628	NM_005228.5(EGFR):c.1874C>T (p.Thr625Ile)	EGFR (T625I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3007568	NM_005228.5(EGFR):c.1006+16G>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3006322	NM_005228.5(EGFR):c.88+19G>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3005777	NM_005228.5(EGFR):c.2023C>A (p.Arg675=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3005334	NM_005228.5(EGFR):c.683C>G (p.Pro228Arg)	EGFR (P175R +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 3004958	NM_005228.5(EGFR):c.1880+15A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3004854	NM_005228.5(EGFR):c.1524C>T (p.Ala508=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 3004757	NM_005228.5(EGFR):c.3116G>A (p.Ser1039Asn)	EGFR (S772N +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3004677	NM_005228.5(EGFR):c.37G>A (p.Ala13Thr)	EGFR (A13T)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 3004185	NM_005228.5(EGFR):c.628+20C>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3003608	NM_005228.5(EGFR):c.219T>G (p.Asn73Lys)	EGFR (N73K +1 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 3003387	NM_005228.5(EGFR):c.2284-14C>G	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 3002788	NM_005228.5(EGFR):c.1207+20A>G	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 3002541	NM_005228.5(EGFR):c.632C>G (p.Thr211Ser)	EGFR (T166S +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 3002277	NM_005228.5(EGFR):c.2701+9T>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3002107	NM_005228.5(EGFR):c.2184+19_2184+20delinsAT	EGFR	Indel (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 3001184	NM_005228.5(EGFR):c.2061+1G>A	EGFR	Single nucleotide variant (splice donor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 3000837	NM_005228.5(EGFR):c.2702-7C>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2999534	NM_005228.5(EGFR):c.2413C>T (p.His805Tyr)	EGFR, EGFR-AS1 (H538Y +3 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2998576	NM_005228.5(EGFR):c.793C>A (p.Pro265Thr)	EGFR (P220T +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2997474	NM_005228.5(EGFR):c.3271+14C>G	EGFR	Single nucleotide variant (synonymous variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2996862	NM_005228.5(EGFR):c.747+9C>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2996128	NM_005228.5(EGFR):c.747+13T>C	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2995912	NM_005228.5(EGFR):c.1594G>A (p.Gly532Ser)	EGFR (G532S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2995777	NM_005228.5(EGFR):c.1709C>G (p.Thr570Ser)	EGFR (T303S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2994781	NM_005228.5(EGFR):c.15G>C (p.Gly5=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2994632	NM_005228.5(EGFR):c.3163-14A>G	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2989507	NM_005228.5(EGFR):c.1631+9T>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2988764	NM_005228.5(EGFR):c.658T>G (p.Ser220Ala)	EGFR (S220A +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2988755	NM_005228.5(EGFR):c.2769C>A (p.Ile923=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2988421	NM_005228.5(EGFR):c.628+16G>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2987812	NM_005228.5(EGFR):c.1134-17C>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2986352	NM_005228.5(EGFR):c.1785C>T (p.Cys595=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2986245	NM_005228.5(EGFR):c.240+18T>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2985893	NM_005228.5(EGFR):c.747+18C>A	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2985759	NM_005228.5(EGFR):c.3518A>C (p.Gln1173Pro)	EGFR (Q906P +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2984871	NM_005228.5(EGFR):c.88+8C>T	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2984279	NM_005228.5(EGFR):c.2818A>G (p.Thr940Ala)	EGFR (T940A +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2982949	NM_005228.5(EGFR):c.51G>C (p.Ala17=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2981539	NM_005228.5(EGFR):c.3312T>C (p.Ser1104=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2981171	NM_005228.5(EGFR):c.240+17T>C	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2980118	NM_005228.5(EGFR):c.2946+8T>C	EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2979370	NM_005228.5(EGFR):c.2490C>T (p.Asp830=)	EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign

<< First< Prev

Page of 31