ESR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	EDDM3B, EFCAB11 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 1237589	NM_001040275.1(ESR2):c.*169A>G	ESR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227274	NM_001040275.1(ESR2):c.*93A>G	ESR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1286246	NM_001040275.1(ESR2):c.*56G>A	ESR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260211	NM_001271876.1(ESR2):c.1421A>C (p.Lys474Thr)	ESR2 (K474T)	Single nucleotide variant (missense variant +1 more)	ESR2-related disorder +1 more	GBenign
Select item 1242089	NM_001040275.1(ESR2):c.1407-662A>C	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259718	NM_001437.3(ESR2):c.*4768T>C	ESR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1266011	NM_001437.3(ESR2):c.*39G>A	ESR2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1898516	NM_001437.3(ESR2):c.1584G>A (p.Gln528=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2173487	NM_001437.3(ESR2):c.1582_1583del (p.Gln528fs)	ESR2 (Q528fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3276490	NM_001437.3(ESR2):c.1559G>T (p.Ser520Ile)	ESR2 (S429I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2727370	NM_001437.3(ESR2):c.1548G>A (p.Glu516=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3276489	NM_001437.3(ESR2):c.1546G>A (p.Glu516Lys)	ESR2 (E516K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2058143	NM_001437.3(ESR2):c.1545A>G (p.Ala515=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 755975	NM_001437.3(ESR2):c.1542G>A (p.Pro514=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2966346	NM_001437.3(ESR2):c.1530C>T (p.Ser510=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3090538	NM_001437.3(ESR2):c.1526G>A (p.Gly509Glu)	ESR2 (G418E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2070785	NM_001437.3(ESR2):c.1526G>T (p.Gly509Val)	ESR2 (G509V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1440774	NM_001437.3(ESR2):c.1525G>T (p.Gly509Trp)	ESR2 (G509W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2517648	NM_001437.3(ESR2):c.1508G>A (p.Cys503Tyr)	ESR2 (C503Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2515614	NM_001437.3(ESR2):c.1504G>A (p.Gly502Arg)	ESR2 (G411R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2961030	NM_001437.3(ESR2):c.1503C>T (p.Arg501=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2722080	NM_001437.3(ESR2):c.1468C>T (p.Leu490=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2876248	NM_001437.3(ESR2):c.1455C>T (p.Val485=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1267790	NM_001437.3(ESR2):c.1407-4A>G	ESR2	Single nucleotide variant (intron variant)	ESR2-related disorder +1 more	GBenign
Select item 1263617	NM_001437.3(ESR2):c.1407-251G>A	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225138	NM_001437.3(ESR2):c.1407-258C>T	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277798	NM_001437.3(ESR2):c.1406+258G>C	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243587	NM_001437.3(ESR2):c.1406+242A>G	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282534	NM_001437.3(ESR2):c.1406+232G>C	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272150	NM_001437.3(ESR2):c.1406+44T>C	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2178445	NM_001437.3(ESR2):c.1385T>C (p.Leu462Pro)	ESR2 (L462P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895433	NM_001437.3(ESR2):c.1383C>G (p.Leu461=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739389	NM_001437.3(ESR2):c.1332C>T (p.Ser444=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2052236	NM_001437.3(ESR2):c.1331G>A (p.Ser444Asn)	ESR2 (S353N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 778482	NM_001437.3(ESR2):c.1323T>C (p.Ile441=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2278270	NM_001437.3(ESR2):c.1317G>T (p.Trp439Cys)	ESR2 (W348C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2909321	NM_001437.3(ESR2):c.1302C>T (p.Thr434=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3090536	NM_001437.3(ESR2):c.1297G>A (p.Val433Met)	ESR2 (V433M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090535	NM_001437.3(ESR2):c.1294G>A (p.Ala432Thr)	ESR2 (A341T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2063690	NM_001437.3(ESR2):c.1280C>T (p.Ala427Val)	ESR2 (A336V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 590787	NM_001437.3(ESR2):c.1277T>G (p.Leu426Arg)	ESR2 (L426R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3090534	NM_001437.3(ESR2):c.1268G>A (p.Ser423Asn)	ESR2 (S423N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090533	NM_001437.3(ESR2):c.1264A>G (p.Ser422Gly)	ESR2 (S331G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1558426	NM_001437.3(ESR2):c.1260T>A (p.Ala420=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3090532	NM_001437.3(ESR2):c.1244C>T (p.Thr415Ile)	ESR2 (T415I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722075	NM_001437.3(ESR2):c.1237C>G (p.Leu413Val)	ESR2 (L322V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2309687	NM_001437.3(ESR2):c.1229T>C (p.Met410Thr)	ESR2, LOC130055821 (M410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602955	NM_001437.3(ESR2):c.1216C>G (p.Leu406Val)	ESR2 (L406V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1395581	NM_001437.3(ESR2):c.1185dup (p.Glu396fs)	ESR2 (E396fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 713136	NM_001437.3(ESR2):c.1176C>G (p.Leu392=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	ESR2-related disorder +1 more	GBenign
Select item 2267012	NM_001437.3(ESR2):c.1163G>A (p.Arg388Gln)	ESR2 (R388Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2271034	NM_001437.3(ESR2):c.1151C>T (p.Thr384Ile)	ESR2 (T384I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411256	NM_001437.3(ESR2):c.1102A>G (p.Lys368Glu)	ESR2 (K368E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 785897	NM_001437.3(ESR2):c.1101G>A (p.Gly367=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2955718	NM_001437.3(ESR2):c.1092-13C>T	ESR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264556	NM_001437.3(ESR2):c.1092-232T>G	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259581	NM_001437.3(ESR2):c.1092-296T>G	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2615023	NM_001437.3(ESR2):c.1058A>T (p.Lys353Met)	ESR2 (K353M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276491	NM_001437.3(ESR2):c.1046A>T (p.Asp349Val)	ESR2 (D349V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2421550	NM_001437.3(ESR2):c.1036C>T (p.Arg346Cys)	ESR2 (R346C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 717001	NM_001437.3(ESR2):c.1011G>A (p.Glu337=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2694890	NM_001437.3(ESR2):c.1002T>C (p.Cys334=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1228925	NM_001437.3(ESR2):c.984G>A (p.Val328=)	ESR2	Single nucleotide variant (intron variant +2 more)	ESR2-related disorder +1 more	GBenign
Select item 2732828	NM_001437.3(ESR2):c.975C>T (p.Phe325=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2057970	NM_001437.3(ESR2):c.953-10C>T	ESR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1536718	NM_001437.3(ESR2):c.953-19C>T	ESR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 590785	NM_001437.3(ESR2):c.941A>G (p.Lys314Arg)	ESR2 (K314R)	Single nucleotide variant (missense variant +1 more)	Ovarian dysgenesis 8	GPathogenic
Select item 2259450	NM_001437.3(ESR2):c.904G>T (p.Ala302Ser)	ESR2 (A302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467952	NM_001437.3(ESR2):c.871G>A (p.Glu291Lys)	ESR2 (E291K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370812	NM_001437.3(ESR2):c.853C>T (p.Pro285Ser)	ESR2 (P285S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090545	NM_001437.3(ESR2):c.849C>A (p.Ser283Arg)	ESR2 (S283R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1550329	NM_001437.3(ESR2):c.846C>T (p.Ile282=)	ESR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1879281	NM_001437.3(ESR2):c.844A>G (p.Ile282Val)	ESR2 (I282V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 735376	NM_001437.3(ESR2):c.808C>T (p.Leu270Phe)	ESR2 (L270F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1657467	NM_001437.3(ESR2):c.801G>T (p.Gln267His)	ESR2 (Q267H)	Single nucleotide variant (missense variant +1 more)	ESR2-related disorder +1 more	GBenign
Select item 3276492	NM_001437.3(ESR2):c.796G>A (p.Glu266Lys)	ESR2 (E266K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090544	NM_001437.3(ESR2):c.792C>A (p.Ser264Arg)	ESR2 (S264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1627818	NM_001437.3(ESR2):c.783C>T (p.Asp261=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3090543	NM_001437.3(ESR2):c.776T>C (p.Leu259Pro)	ESR2 (L259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239449	NM_001437.3(ESR2):c.761G>C (p.Arg254Pro)	ESR2 (R254P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1449586	NM_001437.3(ESR2):c.757C>A (p.Pro253Thr)	ESR2 (P253T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2456976	NM_001437.3(ESR2):c.755C>T (p.Ala252Val)	ESR2 (A252V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 756314	NM_001437.3(ESR2):c.748G>A (p.Gly250Ser)	ESR2 (G250S)	Single nucleotide variant (missense variant +1 more)	ESR2-related disorder +1 more	GBenign/Likely benign
Select item 2607089	NM_001437.3(ESR2):c.736A>G (p.Lys246Glu)	ESR2 (K246E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2849269	NM_001437.3(ESR2):c.712_732del (p.Gln238_Lys244del)	ESR2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1413252	NM_001437.3(ESR2):c.728G>A (p.Gly243Asp)	ESR2 (G243D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 743747	NM_001437.3(ESR2):c.705C>T (p.Ala235=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1335149	NM_001437.3(ESR2):c.693A>G (p.Arg231=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2899712	NM_001437.3(ESR2):c.689G>A (p.Arg230Gln)	ESR2 (R230Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2723319	NM_001437.3(ESR2):c.683T>C (p.Leu228Pro)	ESR2 (L228P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2818549	NM_001437.3(ESR2):c.666G>A (p.Glu222=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717630	NM_001437.3(ESR2):c.661A>G (p.Arg221Gly)	ESR2 (R221G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 755036	NM_001437.3(ESR2):c.653-6C>T	ESR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281995	NM_001437.3(ESR2):c.653-237_653-236del	ESR2	Deletion (intron variant)	not provided	GBenign
Select item 1229934	NM_001437.3(ESR2):c.652+17C>T	ESR2	Single nucleotide variant (intron variant)	not provided	GBenign

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