ClinVar for Gene (Select 1956) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594734	NM_005228.5(EGFR):c.3381C>G (p.Asp1127Glu)	EGFR (D1082E +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594733	NM_005228.5(EGFR):c.1925A>G (p.Lys642Arg)	EGFR (K589R +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594732	NM_005228.5(EGFR):c.1881-774G>A	EGFR (G659R)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594731	NM_005228.5(EGFR):c.1881-778G>C	EGFR (Q657H)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594730	NM_005228.5(EGFR):c.1270G>A (p.Glu424Lys)	EGFR (E157K +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594729	NM_005228.5(EGFR):c.474C>A (p.Asn158Lys)	EGFR (N105K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594728	NM_005228.5(EGFR):c.424+5G>A	EGFR	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3594727	NM_005228.5(EGFR):c.74T>C (p.Leu25Pro)	EGFR (L25P)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2 +1 more	GUncertain significance
Select item 3572245	NM_005228.5(EGFR):c.2372A>G (p.Gln791Arg)	EGFR, EGFR-AS1 (Q791R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3572244	NM_005228.5(EGFR):c.2314C>G (p.Pro772Ala)	EGFR, EGFR-AS1 (P727A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3572243	NM_005228.5(EGFR):c.2192G>T (p.Trp731Leu)	EGFR (W464L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3572242	NM_005228.5(EGFR):c.2146_2159del (p.Lys716fs)	EGFR (K449fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3507185	NM_005228.5(EGFR):c.875T>C (p.Val292Ala)	EGFR (V292A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507184	NM_005228.5(EGFR):c.3609A>G (p.Gln1203=)	EGFR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507183	NM_005228.5(EGFR):c.499A>G (p.Ile167Val)	EGFR (I114V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507181	NM_005228.5(EGFR):c.3477G>A (p.Gln1159=)	EGFR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507180	NM_005228.5(EGFR):c.1978G>T (p.Val660Leu)	EGFR (V393L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507179	NM_005228.5(EGFR):c.1091C>A (p.Ser364Tyr)	EGFR, LOC126860048 (S311Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507177	NM_005228.5(EGFR):c.2553C>T (p.Val851=)	EGFR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507176	NM_005228.5(EGFR):c.1554G>C (p.Pro518=)	EGFR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507175	NM_005228.5(EGFR):c.3346A>C (p.Asn1116His)	EGFR (N1063H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507173	NM_005228.5(EGFR):c.363C>A (p.Val121=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507171	NM_005228.5(EGFR):c.480G>T (p.Glu160Asp)	EGFR (E107D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507170	NM_005228.5(EGFR):c.3472G>A (p.Ala1158Thr)	EGFR (A1158T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507168	NM_005228.5(EGFR):c.2046G>A (p.Leu682=)	EGFR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507167	NM_005228.5(EGFR):c.879G>A (p.Lys293=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507165	NM_005228.5(EGFR):c.3608A>C (p.Gln1203Pro)	EGFR (Q1203P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507164	NM_005228.5(EGFR):c.214A>G (p.Arg72Gly)	EGFR (R72G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507161	NM_005228.5(EGFR):c.890G>A (p.Arg297His)	EGFR (R244H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507158	NM_005228.5(EGFR):c.2295G>A (p.Val765=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507154	NM_005228.5(EGFR):c.3366C>A (p.Asp1122Glu)	EGFR (D1077E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3507153	NM_005228.5(EGFR):c.2313C>T (p.Asn771=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507151	NM_005228.5(EGFR):c.2370G>C (p.Thr790=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507149	NM_005228.5(EGFR):c.2466A>G (p.Ala822=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3507142	NM_005228.5(EGFR):c.2289C>A (p.Ala763=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3390866	NM_005228.5(EGFR):c.3055C>A (p.Pro1019Thr)	EGFR (P1019T +3 more)	Single nucleotide variant (missense variant)	Glioblastoma multiforme, somatic	OUncertain significance
Select item 3390865	NM_005228.5(EGFR):c.3056C>A (p.Pro1019Gln)	EGFR (P1019Q +3 more)	Single nucleotide variant (missense variant)	Glioblastoma multiforme, somatic	OUncertain significance
Select item 3379765	NM_005228.5(EGFR):c.351T>A (p.Tyr117Ter)	EGFR (Y117* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3374884	NM_005228.5(EGFR):c.800T>C (p.Leu267Pro)	EGFR (L214P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3358183	NM_005228.5(EGFR):c.1881-846G>T	EGFR (A635S)	Single nucleotide variant (missense variant +1 more)	EGFR-related disorder	GUncertain significance
Select item 3357580	NM_005228.5(EGFR):c.1881-803G>T	EGFR (S649I)	Single nucleotide variant (missense variant +1 more)	EGFR-related disorder	GUncertain significance
Select item 3356849	NM_005228.5(EGFR):c.3271+29C>T	EGFR	Single nucleotide variant (synonymous variant +1 more)	EGFR-related disorder	GLikely benign
Select item 3346517	NM_005228.5(EGFR):c.1932_1935dup (p.Ile646fs)	EGFR (I379fs +3 more)	Duplication (frameshift variant)	EGFR-related disorder	GUncertain significance
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 3257907	NM_005228.5(EGFR):c.1950G>T (p.Met650Ile)	EGFR (M597I +3 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257905	NM_005228.5(EGFR):c.1875C>G (p.Thr625=)	EGFR	Single nucleotide variant (synonymous variant)	Neoplasm	OUncertain significance
Select item 3257904	NM_005228.5(EGFR):c.1860C>G (p.Cys620Trp)	EGFR (C620W +3 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257903	NM_005228.5(EGFR):c.1797C>G (p.Val599=)	EGFR	Single nucleotide variant (synonymous variant)	Neoplasm	OLikely benign
Select item 3257902	NM_005228.5(EGFR):c.1740C>G (p.Ile580Met)	EGFR (I527M +3 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257901	NM_005228.5(EGFR):c.250G>A (p.Glu84Lys)	EGFR (E31K +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3257900	NM_005228.5(EGFR):c.185T>G (p.Leu62Arg)	EGFR (L62R +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3257757	NM_005228.5(EGFR):c.865_866delinsCT	EGFR (A289V +5 more)	Single nucleotide variant (missense 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 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

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