Related gene-specific medical variations for Gene (Select 1956) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338124	EGFR, ILE365ASN	EGFR	Variation	Inflammatory skin and bowel disease, neonatal, 2	GPathogenic
Select item 3338123	EGFR, ARG98TER	EGFR	Variation	Inflammatory skin and bowel disease, neonatal, 2	GPathogenic
Select item 3274753	NM_005228.5(EGFR):c.2382C>A (p.Pro794=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3274752	NM_005228.5(EGFR):c.2301C>T (p.Ala767=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3274750	NM_005228.5(EGFR):c.2358G>T (p.Val786=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3257908	NM_005228.5(EGFR):c.2390G>C (p.Cys797Ser)	EGFR, EGFR-AS1 (C744S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neoplasm	OUncertain significance
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 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 3014442	NM_005228.5(EGFR):c.1007-8C>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
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 3011781	NM_005228.5(EGFR):c.1134-15T>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
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 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 2999534	NM_005228.5(EGFR):c.2413C>T (p.His805Tyr)	EGFR, EGFR-AS1 (H538Y +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
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 2959466	NM_005228.5(EGFR):c.1130G>A (p.Arg377Lys)	EGFR, LOC126860048 (R324K +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2907450	NM_005228.5(EGFR):c.2371C>T (p.Gln791Ter)	EGFR, EGFR-AS1 (Q524* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GPathogenic
Select item 2906832	NM_005228.5(EGFR):c.2368A>T (p.Thr790Ser)	EGFR, EGFR-AS1 (T523S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2896196	NM_005228.5(EGFR):c.2352C>T (p.Ser784=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2894661	NM_005228.5(EGFR):c.1203C>T (p.Ile401=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2883812	NM_005228.5(EGFR):c.2397G>A (p.Leu799=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer +1 more	GLikely benign
Select item 2876970	NM_005228.5(EGFR):c.1207+16T>C	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2876900	NM_005228.5(EGFR):c.2469+15G>C	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2875531	NM_005228.5(EGFR):c.1207+19C>T	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2865388	NM_005228.5(EGFR):c.2284-18G>T	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2851640	NM_005228.5(EGFR):c.1134-11_1134-9del	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2851604	NM_005228.5(EGFR):c.2367C>T (p.Ile789=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2849016	NM_005228.5(EGFR):c.2295G>C (p.Val765=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2841664	NM_005228.5(EGFR):c.1134-7_1134-4del	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 2835235	NM_005228.5(EGFR):c.1082A>G (p.Asn361Ser)	EGFR, LOC126860048 (N361S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2832566	NM_005228.5(EGFR):c.1200A>G (p.Glu400=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2823851	NM_005228.5(EGFR):c.2284-9T>G	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2820356	NM_005228.5(EGFR):c.2464G>C (p.Ala822Pro)	EGFR, EGFR-AS1 (A769P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2819404	NM_005228.5(EGFR):c.1103del (p.Asp368fs)	EGFR, LOC126860048 (D315fs +3 more)	Deletion (frameshift variant)	EGFR-related lung cancer	GPathogenic
Select item 2817131	NM_005228.5(EGFR):c.1007-10A>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2811843	NM_005228.5(EGFR):c.2286A>G (p.Glu762=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2804071	NM_005228.5(EGFR):c.1149_1169dup (p.Pro389_Gln390insHisThrProProLeuAspPro)	EGFR, LOC126860048	Duplication (inframe_insertion)	EGFR-related lung cancer	GUncertain significance
Select item 2799850	NM_005228.5(EGFR):c.2306T>C (p.Val769Ala)	EGFR, EGFR-AS1 (V724A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2799484	NM_005228.5(EGFR):c.1133+12G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2781065	NM_005228.5(EGFR):c.1043C>T (p.Ser348Leu)	EGFR, LOC126860048 (S295L +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2777401	NM_005228.5(EGFR):c.1118C>T (p.Pro373Leu)	EGFR, LOC126860048 (P106L +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2776343	NM_005228.5(EGFR):c.1030G>A (p.Glu344Lys)	EGFR, LOC126860048 (E299K +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2771878	NM_005228.5(EGFR):c.2469+13G>C	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2770102	NM_005228.5(EGFR):c.1147C>T (p.His383Tyr)	EGFR, LOC126860048 (H116Y +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2765074	NM_005228.5(EGFR):c.2431T>G (p.Ser811Ala)	EGFR, EGFR-AS1 (S811A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2761670	NM_005228.5(EGFR):c.2447A>G (p.Asn816Ser)	EGFR, EGFR-AS1 (N763S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2761266	NM_005228.5(EGFR):c.1207+4_1207+5insAA	EGFR, LOC126860048 (S405fs)	Insertion (frameshift variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2758630	NM_005228.5(EGFR):c.1026T>G (p.Ile342Met)	EGFR, LOC126860048 (I289M +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2755282	NM_005228.5(EGFR):c.2469+10G>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2755029	NM_005228.5(EGFR):c.2313C>A (p.Asn771Lys)	EGFR, EGFR-AS1 (N726K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2750606	NM_005228.5(EGFR):c.1074C>A (p.His358Gln)	EGFR, LOC126860048 (H305Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2731648	NM_005228.5(EGFR):c.2414A>T (p.His805Leu)	EGFR, EGFR-AS1 (H805L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2726732	NM_005228.5(EGFR):c.2367_2378dup (p.Leu792_Met793insIleThrGlnLeu)	EGFR, EGFR-AS1	Duplication (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2710227	NM_005228.5(EGFR):c.1125A>T (p.Ala375=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2708948	NM_005228.5(EGFR):c.1099G>T (p.Gly367Cys)	EGFR, LOC126860048 (G322C +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2702247	NM_005228.5(EGFR):c.1207+18A>G	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2701271	NM_005228.5(EGFR):c.1207+8C>G	EGFR, LOC126860048 (S405R)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2697848	NM_005228.5(EGFR):c.1044A>G (p.Ser348=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2681886	NM_005228.5(EGFR):c.2646A>T (p.Ala882=)	EGFR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2681885	NM_005228.5(EGFR):c.2453G>A (p.Cys818Tyr)	EGFR, EGFR-AS1 (C551Y +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2681884	NM_005228.5(EGFR):c.2146A>G (p.Lys716Glu)	EGFR (K449E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2583128	NM_005228.5(EGFR):c.2318_2320delinsTCA (p.His773_Val774delinsLeuMet)	EGFR, EGFR-AS1	Indel (non-coding transcript variant +1 more)	Lung adenocarcinoma	GLikely pathogenic
Select item 2582281	NM_005228.5(EGFR):c.2287G>A (p.Ala763Thr)	EGFR, EGFR-AS1 (A496T +3 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2578363	NM_005228.5(EGFR):c.2317delinsAACCCCT (p.His773delinsAsnProTyr)	EGFR, EGFR-AS1	Indel (non-coding transcript variant +1 more)	Lung cancer	GPathogenic
Select item 2445398	NM_005228.5(EGFR):c.3552T>A (p.Asn1184Lys)	EGFR (N1131K +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445337	NM_005228.5(EGFR):c.1936A>T (p.Ile646Phe)	EGFR (I379F +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445312	NM_005228.5(EGFR):c.3360C>A (p.Ser1120Arg)	EGFR (S1067R +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445283	NM_005228.5(EGFR):c.1873A>C (p.Thr625Pro)	EGFR (T358P +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2418796	NM_005228.5(EGFR):c.2435A>G (p.Gln812Arg)	EGFR, EGFR-AS1 (Q545R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2418624	NM_005228.5(EGFR):c.1191C>T (p.Thr397=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2193162	NM_005228.5(EGFR):c.1062G>A (p.Thr354=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2191764	NM_005228.5(EGFR):c.2463C>A (p.Ile821=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2191529	NM_005228.5(EGFR):c.2308G>A (p.Asp770Asn)	EGFR, EGFR-AS1 (D725N +3 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2177925	NM_005228.5(EGFR):c.2412A>G (p.Glu804=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2177236	NM_005228.5(EGFR):c.1125A>C (p.Ala375=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2133820	NM_005228.5(EGFR):c.2401T>C (p.Tyr801His)	EGFR, EGFR-AS1 (Y801H +3 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2130154	NM_005228.5(EGFR):c.1057G>T (p.Ala353Ser)	EGFR, LOC126860048 (A86S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2127103	NM_005228.5(EGFR):c.1093A>G (p.Ile365Val)	EGFR, LOC126860048 (I320V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2117794	NM_005228.5(EGFR):c.1133+19T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2114097	NM_005228.5(EGFR):c.1007-8_1007-5del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 2108699	NM_005228.5(EGFR):c.2284-19T>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2105110	NM_005228.5(EGFR):c.1151C>T (p.Thr384Ile)	EGFR, LOC126860048 (T117I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2104454	NM_005228.5(EGFR):c.2469+1G>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely pathogenic
Select item 2103284	NM_005228.5(EGFR):c.1161G>A (p.Leu387=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 2099631	NM_005228.5(EGFR):c.1134-8T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2095673	NM_005228.5(EGFR):c.2469+11A>G	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GLikely benign
Select item 2087947	NM_005228.5(EGFR):c.1134-11G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2086655	NM_005228.5(EGFR):c.2284-3C>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2073259	NM_005228.5(EGFR):c.2284-17C>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 2055612	NM_005228.5(EGFR):c.1025T>G (p.Ile342Ser)	EGFR, LOC126860048 (I342S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2039667	NM_005228.5(EGFR):c.1207+13T>C	EGFR, LOC126860048	Single nucleotide variant (3 prime UTR variant +1 more)	EGFR-related lung cancer	GLikely benign

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