ESR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	LOC115308161, LOC116183076 +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 1287125	NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA	ESR1	Insertion (intron variant)	not provided	GBenign
Select item 1290579	NM_001122740.2(ESR1):c.-84C>G	ESR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1268885	NM_001122740.2(ESR1):c.-73A>G	ESR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1185886	NM_000125.4(ESR1):c.-170C>T	ESR1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 712708	NM_000125.4(ESR1):c.16C>T (p.His6Tyr)	ESR1 (H6Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034626	NM_000125.4(ESR1):c.18C>T (p.His6=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related condition	GLikely benign
Select item 2571953	NM_000125.4(ESR1):c.29C>T (p.Ser10Phe)	ESR1 (S10F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250979	NM_000125.4(ESR1):c.30T>C (p.Ser10=)	ESR1	Single nucleotide variant (synonymous variant)	Estrogen resistance syndrome +4 more	GBenign
Select item 2656999	NM_000125.4(ESR1):c.115C>T (p.Leu39=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744373	NM_000125.4(ESR1):c.174C>T (p.Ala58=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790835	NM_000125.4(ESR1):c.229G>A (p.Gly77Ser)	ESR1 (G77S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180284	NM_000125.4(ESR1):c.261G>C (p.Ala87=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related condition +1 more	GBenign
Select item 2342726	NM_000125.4(ESR1):c.269G>A (p.Gly90Asp)	ESR1 (G90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744790	NM_000125.4(ESR1):c.276C>T (p.Asn92=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605126	NM_000125.4(ESR1):c.290T>C (p.Phe97Ser)	ESR1 (F97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323292	NM_000125.4(ESR1):c.296C>T (p.Pro99Leu)	ESR1 (P99L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049889	NM_000125.4(ESR1):c.296C>A (p.Pro99Gln)	ESR1 (P99Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759507	NM_000125.4(ESR1):c.315G>T (p.Pro105=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719711	NM_000125.4(ESR1):c.315G>A (p.Pro105=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related condition +1 more	GLikely benign
Select item 790988	NM_000125.4(ESR1):c.352T>C (p.Ser118Pro)	ESR1 (S118P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 709059	NM_000125.4(ESR1):c.406C>T (p.Pro136Ser)	ESR1 (P136S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735137	NM_000125.4(ESR1):c.409A>G (p.Ser137Gly)	ESR1 (S137G)	Single nucleotide variant (missense variant)	ESR1-related condition +1 more	GBenign
Select item 1235666	NM_000125.4(ESR1):c.452+47GGAG[7]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1258285	NM_000125.4(ESR1):c.452+89C>T	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231855	NM_000125.4(ESR1):c.452+247G>T	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190926	NM_000125.4(ESR1):c.452+270C>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 16594	NM_000125.4(ESR1):c.453-397T>C	ESR1	Single nucleotide variant (intron variant)	Myocardial infarction, susceptibility to	Grisk factor
Select item 1188029	NM_000125.4(ESR1):c.453-200G>T	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3053378	NM_000125.4(ESR1):c.453-9del	ESR1	Deletion (intron variant)	ESR1-related condition	GBenign
Select item 745034	NM_000125.4(ESR1):c.454C>G (p.Pro152Ala)	ESR1 (P152A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 724348	NM_000125.4(ESR1):c.456A>G (p.Pro152=)	ESR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 16592	NM_000125.4(ESR1):c.469C>T (p.Arg157Ter)	ESR1 (R157*)	Single nucleotide variant (nonsense +1 more)	Estrogen resistance syndrome	GPathogenic
Select item 789512	NM_000125.4(ESR1):c.478G>T (p.Gly160Cys)	ESR1 (G160C)	Single nucleotide variant (missense variant +1 more)	ESR1-related condition +1 more	GLikely benign
Select item 2238852	NM_000125.4(ESR1):c.572A>G (p.Tyr191Cys)	ESR1 (Y18C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1181618	NM_000125.4(ESR1):c.643+63C>T	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219321	NM_000125.4(ESR1):c.643+104A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240779	NM_000125.4(ESR1):c.644-326T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186993	NM_000125.4(ESR1):c.644-301del	ESR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1190334	NM_000125.4(ESR1):c.644-166G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2602795	NM_000125.4(ESR1):c.720C>T (p.Cys240=)	ESR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 770366	NM_000125.4(ESR1):c.729= (p.Arg243=)	ESR1	Variation (no sequence alteration)	not provided	GBenign
Select item 1191482	NM_000125.4(ESR1):c.760+85G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292687	NM_000125.4(ESR1):c.760+101T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196773	NM_000125.4(ESR1):c.760+184G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208479	NM_000125.4(ESR1):c.761-210G>C	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180138	NM_000125.4(ESR1):c.761-163T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253175	NM_000125.4(ESR1):c.761-17dup	ESR1	Duplication (intron variant)	not provided	GBenign
Select item 1180193	NM_000125.4(ESR1):c.805C>T (p.Arg269Cys)	ESR1 (R268C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 754648	NM_000125.4(ESR1):c.885G>A (p.Pro295=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193136	NM_000125.4(ESR1):c.896A>G (p.Lys299Arg)	ESR1 (K126R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208354	NM_000125.4(ESR1):c.908A>G (p.Lys303Arg)	ESR1 (K303R +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	Grisk factor
Select item 781014	NM_000125.4(ESR1):c.933G>A (p.Thr311=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related condition +1 more	GBenign/Likely benign
Select item 710434	NM_000125.4(ESR1):c.936C>T (p.Ala312=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768117	NM_000125.4(ESR1):c.975= (p.Pro325=)	ESR1	Variation (no sequence alteration)	not provided	GBenign
Select item 739888	NM_000125.4(ESR1):c.1020T>A (p.Ala340=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749764	NM_000125.4(ESR1):c.1032C>T (p.Gly344=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16593	NM_000125.4(ESR1):c.1091T>A (p.Val364Glu)	ESR1 (V364E +3 more)	Single nucleotide variant (missense variant)	Estrogen resistance syndrome	GUncertain significance
Select item 1698054	NM_000125.4(ESR1):c.1095A>G (p.Pro365=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1194976	NM_000125.4(ESR1):c.1096+15C>T	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239923	NM_000125.4(ESR1):c.1096+16G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229403	NM_000125.4(ESR1):c.1097-273A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277558	NM_000125.4(ESR1):c.1097-131del	ESR1	Deletion (intron variant)	not provided	GBenign
Select item 1254013	NM_000125.4(ESR1):c.1097-95A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 60557	NM_000125.4(ESR1):c.1125G>T (p.Gln375His)	ESR1 (Q375H +3 more)	Single nucleotide variant (missense variant)	Estrogen resistance syndrome	GPathogenic
Select item 707943	NM_000125.4(ESR1):c.1131C>T (p.His377=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721111	NM_000125.4(ESR1):c.1137A>C (p.Leu379=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 376206	NM_000125.4(ESR1):c.1138G>C (p.Glu380Gln)	ESR1 (E380Q +3 more)	Single nucleotide variant (missense variant)	Breast neoplasm	GLikely pathogenic
Select item 430713	NM_000125.4(ESR1):c.1181G>A (p.Arg394His)	ESR1 (R394H +3 more)	Single nucleotide variant (missense variant)	Estrogen resistance syndrome	GPathogenic/Likely pathogenic
Select item 1267111	NM_000125.4(ESR1):c.1235+55T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217863	NM_000125.4(ESR1):c.1235+103A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249597	NM_000125.4(ESR1):c.1235+175G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684076	NM_000125.4(ESR1):c.1235+224AC[22]	ESR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1293199	NM_000125.4(ESR1):c.1235+224AC[18]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251820	NM_000125.4(ESR1):c.1235+224AC[16]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239925	NM_000125.4(ESR1):c.1235+224AC[20]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1231364	NM_000125.4(ESR1):c.1235+224AC[19]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1230656	NM_000125.4(ESR1):c.1235+224AC[17]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1207786	NM_000125.4(ESR1):c.1235+255CA[3]	ESR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1232242	NM_000125.4(ESR1):c.1235+259CT[11]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1238986	NM_000125.4(ESR1):c.1235+259CT[9]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1287180	NM_000125.4(ESR1):c.1236-128T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292722	NM_000125.4(ESR1):c.1236-112A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16590	NM_000125.4(ESR1):c.1339_1340delinsGC (p.Cys447Ala)	ESR1 (C447A +3 more)	Indel (missense variant)	Estrogen receptor mutant, temperature-sensitive	GPathogenic
Select item 1274490	NM_000125.4(ESR1):c.1369+52G>T	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248080	NM_000125.4(ESR1):c.1369+66A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268561	NM_000125.4(ESR1):c.1369+123G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219496	NM_000125.4(ESR1):c.1369+135C>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241299	NM_000125.4(ESR1):c.1369+161A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215489	NM_000125.4(ESR1):c.1369+215A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 375934	NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro)	ESR1 (S463P +2 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GPathogenic
Select item 758784	NM_000125.4(ESR1):c.1497G>A (p.Gln499=)	ESR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1236629	NM_000125.4(ESR1):c.1554-341G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219776	NM_000125.4(ESR1):c.1554-261T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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