ClinVar for Gene (Select 2099) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4019827	NM_000125.4(ESR1):c.467A>C (p.Asn156Thr)	ESR1 (N156T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4019826	NM_000125.4(ESR1):c.1415A>C (p.Lys472Thr)	ESR1 (K472T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3891418	NM_000125.4(ESR1):c.804G>C (p.Lys268Asn)	ESR1 (K267N +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 3891414	NM_000125.4(ESR1):c.433G>A (p.Gly145Ser)	ESR1 (G145S)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 3846268	NM_000125.4(ESR1):c.547C>G (p.Arg183Gly)	ESR1 (R10G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3846267	NM_000125.4(ESR1):c.131T>C (p.Leu44Pro)	ESR1 (L44P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3771784	NM_182961.4(SYNE1):c.26203C>T (p.Arg8735Trp)	ESR1, SYNE1 (R8687W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3771774	NM_000125.4(ESR1):c.870C>T (p.Asn290=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3764845	NM_000125.4(ESR1):c.1613A>G (p.Asp538Gly)	ESR1 (D537G +2 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm	OOncogenic
Select item 3764844	NM_000125.4(ESR1):c.1069A>G (p.Met357Val)	ESR1 (M184V +3 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3764239	NM_000125.4(ESR1):c.227C>G (p.Thr76Ser)	ESR1 (T76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573831	NM_182961.4(SYNE1):c.26348C>T (p.Ser8783Leu)	ESR1, SYNE1 (S8735L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3510401	NM_000125.4(ESR1):c.801C>G (p.His267Gln)	ESR1 (H267Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510400	NM_000125.4(ESR1):c.1492C>A (p.Gln498Lys)	ESR1 (Q498K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3510399	NM_000125.4(ESR1):c.595G>A (p.Val199Ile)	ESR1 (V26I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510398	NM_000125.4(ESR1):c.976A>G (p.Ile326Val)	ESR1 (I328V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510396	NM_000125.4(ESR1):c.1378A>G (p.Thr460Ala)	ESR1 (T462A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3391891	GRCh37/hg19 6q24.3-25.1(chr6:147992673-152474066)x1	AKAP12, ARMT1 +27 more	Copy number loss	not provided	GPathogenic
Select item 3391846	GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3	ZC3H12D, ZDHHC14 +117 more	Copy number gain	not provided	GPathogenic
Select item 3341627	NM_000125.4(ESR1):c.437C>A (p.Pro146Gln)	ESR1 (P146Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3257896	NM_000125.4(ESR1):c.1610A>G (p.Tyr537Cys)	ESR1 (Y539C +2 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm	OOncogenic
Select item 3257895	NM_000125.4(ESR1):c.1610A>C (p.Tyr537Ser)	ESR1 (Y537S +2 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm	OOncogenic
Select item 3257894	NM_000125.4(ESR1):c.1609T>A (p.Tyr537Asn)	ESR1 (Y536N +2 more)	Single nucleotide variant (missense variant +2 more)	Neoplasm	OOncogenic
Select item 3257893	NM_000125.4(ESR1):c.988G>A (p.Glu330Lys)	ESR1 (E330K +3 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257892	NM_000125.4(ESR1):c.172G>A (p.Ala58Thr)	ESR1 (A58T)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3090530	NM_000125.4(ESR1):c.296C>G (p.Pro99Arg)	ESR1 (P99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090529	NM_000125.4(ESR1):c.263C>T (p.Ala88Val)	ESR1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3053378	NM_000125.4(ESR1):c.453-9del	ESR1	Deletion (intron variant)	ESR1-related disorder	GBenign
Select item 3036280	NM_001328100.2(ESR1):c.876G>C (p.Lys292Asn)	ESR1, SYNE1 (K292N)	Single nucleotide variant (missense variant +1 more)	ESR1-related disorder	GLikely benign
Select item 3034626	NM_000125.4(ESR1):c.18C>T (p.His6=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related disorder	GLikely benign
Select item 2937660	NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2933119	NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)	ESR1, SYNE1 (R907*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997477, MIR3692 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657000	NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 2656999	NM_000125.4(ESR1):c.115C>T (p.Leu39=)	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)	not specified	GUncertain significance
Select item 2602795	NM_000125.4(ESR1):c.720C>T (p.Cys240=)	ESR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	CCDC170, AKAP12 +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
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 2492794	NM_000125.4(ESR1):c.1709C>G (p.Thr570Ser)	ESR1 (T570S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2436693	NM_182961.4(SYNE1):c.26288G>A (p.Cys8763Tyr)	ESR1, SYNE1 (C8715Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436645	NM_182961.4(SYNE1):c.26344C>G (p.Arg8782Gly)	ESR1, SYNE1 (R8734G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436635	NM_182961.4(SYNE1):c.26192C>T (p.Pro8731Leu)	ESR1, SYNE1 (P8683L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436576	NM_182961.4(SYNE1):c.26311G>A (p.Asp8771Asn)	ESR1, SYNE1 (D8723N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436544	NM_182961.4(SYNE1):c.26384C>T (p.Pro8795Leu)	ESR1, SYNE1 (P8747L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2342726	NM_000125.4(ESR1):c.269G>A (p.Gly90Asp)	ESR1 (G90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323292	NM_000125.4(ESR1):c.296C>T (p.Pro99Leu)	ESR1 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238852	NM_000125.4(ESR1):c.572A>G (p.Tyr191Cys)	ESR1 (Y18C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2178485	NM_182961.4(SYNE1):c.26154-9T>C	ESR1, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2057948	NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)	ESR1, SYNE1 (E8770K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1965519	NM_182961.4(SYNE1):c.26154-16T>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1807208	NM_182961.4(SYNE1):c.26158A>T (p.Thr8720Ser)	ESR1, SYNE1 (H902L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807197	NM_182961.4(SYNE1):c.26267T>C (p.Leu8756Pro)	ESR1, SYNE1 (L8708P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1807171	NM_182961.4(SYNE1):c.26242G>C (p.Ala8748Pro)	ESR1, SYNE1 (A8700P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 1684076	NM_000125.4(ESR1):c.1235+224AC[22]	ESR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1553663	NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)	SYNE1, ESR1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1513254	NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)	ESR1, SYNE1 (L8710del +2 more)	Microsatellite (3 prime UTR variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1471881	NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)	SYNE1, ESR1 (G915V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1440876	NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)	ESR1, SYNE1 (A940V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1425327	NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)	ESR1, SYNE1 (R8738H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1415617	NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)	ESR1, SYNE1 (F962L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1293199	NM_000125.4(ESR1):c.1235+224AC[18]	ESR1	Microsatellite (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 1292687	NM_000125.4(ESR1):c.760+101T>C	ESR1	Single nucleotide variant (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 1287180	NM_000125.4(ESR1):c.1236-128T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287125	NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA	ESR1	Insertion (intron variant)	not provided	GBenign
Select item 1277558	NM_000125.4(ESR1):c.1097-131del	ESR1	Deletion (intron variant)	not provided	GBenign
Select item 1274490	NM_000125.4(ESR1):c.1369+52G>T	ESR1	Single nucleotide variant (intron variant)	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 1268561	NM_000125.4(ESR1):c.1369+123G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267111	NM_000125.4(ESR1):c.1235+55T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263746	NM_000125.4(ESR1):c.1782G>A (p.Thr594=)	ESR1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 1258285	NM_000125.4(ESR1):c.452+89C>T	ESR1	Single nucleotide variant (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 1253175	NM_000125.4(ESR1):c.761-17dup	ESR1	Duplication (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 1250979	NM_000125.4(ESR1):c.30T>C (p.Ser10=)	ESR1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1249597	NM_000125.4(ESR1):c.1235+175G>A	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 1241299	NM_000125.4(ESR1):c.1369+161A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240779	NM_000125.4(ESR1):c.644-326T>C	ESR1	Single nucleotide variant (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 1239923	NM_000125.4(ESR1):c.1096+16G>A	ESR1	Single nucleotide variant (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 1236629	NM_000125.4(ESR1):c.1554-341G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235666	NM_000125.4(ESR1):c.452+47GGAG[7]	ESR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1232242	NM_000125.4(ESR1):c.1235+259CT[11]	ESR1	Microsatellite (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 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 1229403	NM_000125.4(ESR1):c.1097-273A>G	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
Select item 1219496	NM_000125.4(ESR1):c.1369+135C>G	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 1217863	NM_000125.4(ESR1):c.1235+103A>G	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216137	NM_182961.4(SYNE1):c.*281G>A	SYNE1, ESR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1215571	NM_000125.4(ESR1):c.1554-148C>T	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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