LOC126860048[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 1268274	NM_005228.5(EGFR):c.1006+151T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192774	NM_005228.5(EGFR):c.1006+284G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203667	NM_005228.5(EGFR):c.1007-169G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646814	NM_005228.5(EGFR):c.1007-20C>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1551762	NM_005228.5(EGFR):c.1007-19G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1537787	NM_005228.5(EGFR):c.1007-19G>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1950017	NM_005228.5(EGFR):c.1007-18TC[2]	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1975113	NM_005228.5(EGFR):c.1007-15C>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1536547	NM_005228.5(EGFR):c.1007-12_1007-11del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GLikely benign
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 2114097	NM_005228.5(EGFR):c.1007-8_1007-5del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 1117238	NM_005228.5(EGFR):c.1007-9T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
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 1034650	NM_005228.5(EGFR):c.1007-7T>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 736983	NM_005228.5(EGFR):c.1007-5T>C	LOC126860048, EGFR	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1465036	NM_005228.5(EGFR):c.1007-1G>A	EGFR, LOC126860048	Single nucleotide variant (splice acceptor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 1557984	NM_005228.5(EGFR):c.1008G>T (p.Val336=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1082079	NM_005228.5(EGFR):c.1011T>C (p.Cys337=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1620220	NM_005228.5(EGFR):c.1014C>T (p.Asn338=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 962021	NM_005228.5(EGFR):c.1024A>C (p.Ile342Leu)	EGFR, LOC126860048 (I297L +3 more)	Single nucleotide variant (missense variant)	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 1438198	NM_005228.5(EGFR):c.1025T>C (p.Ile342Thr)	EGFR, LOC126860048 (I342T +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	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 1509945	NM_005228.5(EGFR):c.1028G>T (p.Gly343Val)	EGFR, LOC126860048 (G343V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1438557	NM_005228.5(EGFR):c.1028G>A (p.Gly343Asp)	EGFR, LOC126860048 (G343D +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1597177	NM_005228.5(EGFR):c.1029T>C (p.Gly343=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GBenign
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 957692	NM_005228.5(EGFR):c.1032A>G (p.Glu344=)	LOC126860048, EGFR	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GUncertain significance
Select item 1145642	NM_005228.5(EGFR):c.1041C>T (p.Asp347=)	EGFR, LOC126860048	Single nucleotide variant (synonymous 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 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 1164620	NM_005228.5(EGFR):c.1047C>G (p.Leu349=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GBenign
Select item 1003305	NM_005228.5(EGFR):c.1049C>G (p.Ser350Cys)	EGFR, LOC126860048 (S297C +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 960197	NM_005228.5(EGFR):c.1051A>G (p.Ile351Val)	EGFR, LOC126860048 (I306V +3 more)	Single nucleotide variant (missense variant)	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 1017568	NM_005228.5(EGFR):c.1061C>T (p.Thr354Met)	EGFR, LOC126860048 (T301M +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
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 1535037	NM_005228.5(EGFR):c.1062G>T (p.Thr354=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1390414	NM_005228.5(EGFR):c.1064A>G (p.Asn355Ser)	EGFR, LOC126860048 (N355S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1137208	NM_005228.5(EGFR):c.1065T>C (p.Asn355=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1517474	NM_005228.5(EGFR):c.1072C>T (p.His358Tyr)	EGFR, LOC126860048 (H91Y +3 more)	Single nucleotide variant (missense variant)	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 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 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 1054732	NM_005228.5(EGFR):c.1086C>T (p.Cys362=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GUncertain significance
Select item 1557055	NM_005228.5(EGFR):c.1089C>T (p.Thr363=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
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 1616758	NM_005228.5(EGFR):c.1098T>C (p.Ser366=)	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 1119820	NM_005228.5(EGFR):c.1101C>T (p.Gly367=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1445961	NM_005228.5(EGFR):c.1102G>A (p.Asp368Asn)	EGFR, LOC126860048 (D323N +3 more)	Single nucleotide variant (missense variant)	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 1427794	NM_005228.5(EGFR):c.1104T>G (p.Asp368Glu)	EGFR, LOC126860048 (D101E +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 835019	NM_005228.5(EGFR):c.1105C>A (p.Leu369Ile)	EGFR, LOC126860048 (L102I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1716453	NM_005228.5(EGFR):c.1110C>A (p.His370Gln)	EGFR, LOC126860048 (H103Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1153029	NM_005228.5(EGFR):c.1110C>T (p.His370=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1044670	NM_005228.5(EGFR):c.1111A>G (p.Ile371Val)	EGFR, LOC126860048 (I104V +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1108695	NM_005228.5(EGFR):c.1114C>T (p.Leu372=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
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 1692864	NM_005228.5(EGFR):c.1118C>G (p.Pro373Arg)	EGFR, LOC126860048 (P106R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 731522	NM_005228.5(EGFR):c.1119G>A (p.Pro373=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 1061995	NM_005228.5(EGFR):c.1122G>A (p.Val374=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	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 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 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 1635567	NM_005228.5(EGFR):c.1131G>A (p.Arg377=)	EGFR, LOC126860048	Single nucleotide variant (synonymous variant)	EGFR-related lung cancer	GLikely benign
Select item 1046685	NM_005228.5(EGFR):c.1131G>T (p.Arg377Ser)	EGFR, LOC126860048 (R377S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 935599	NM_005228.5(EGFR):c.1131G>C (p.Arg377Ser)	EGFR, LOC126860048 (R332S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2014942	NM_005228.5(EGFR):c.1132G>T (p.Gly378Cys)	EGFR, LOC126860048 (G325C +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 2013164	NM_005228.5(EGFR):c.1132G>A (p.Gly378Ser)	EGFR, LOC126860048 (G325S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 1059940	NM_005228.5(EGFR):c.1133+1G>A	EGFR, LOC126860048	Single nucleotide variant (splice donor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 1393720	NM_005228.5(EGFR):c.1133+3G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GUncertain significance
Select item 1136866	NM_005228.5(EGFR):c.1133+7C>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 741618	NM_005228.5(EGFR):c.1133+8A>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 2006897	NM_005228.5(EGFR):c.1133+10A>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1540051	NM_005228.5(EGFR):c.1133+11_1133+13del	EGFR, LOC126860048	Deletion (intron variant)	EGFR-related lung cancer	GLikely benign
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 1538547	NM_005228.5(EGFR):c.1133+17G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
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 1543674	NM_005228.5(EGFR):c.1134-19A>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1537285	NM_005228.5(EGFR):c.1134-19A>T	EGFR, LOC126860048	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 1674049	NM_005228.5(EGFR):c.1134-16C>G	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
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 2851640	NM_005228.5(EGFR):c.1134-11_1134-9del	EGFR, LOC126860048	Microsatellite (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1621012	NM_005228.5(EGFR):c.1134-14G>A	EGFR, LOC126860048	Single nucleotide variant (intron variant)	EGFR-related lung cancer	GLikely benign
Select item 1560057	NM_005228.5(EGFR):c.1134-14G>T	EGFR, LOC126860048	Single nucleotide variant (intron variant)	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 2019529	NM_005228.5(EGFR):c.1134-12T>C	EGFR, LOC126860048	Single nucleotide variant (intron variant)	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 966385	NM_005228.5(EGFR):c.1134-10T>C	EGFR, LOC126860048	Single nucleotide variant (intron 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

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