ClinVar for Gene (Select 2099) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GBenign
Select item 3036280	NM_182961.4(SYNE1):c.26154-2615C>G	ESR1, SYNE1 (K292N)	Single nucleotide variant (missense variant +1 more)	ESR1-related condition	GLikely benign
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 2937660	NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2933119	NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)	SYNE1, ESR1 (R907*)	Single nucleotide variant (nonsense +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +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	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)	Inborn genetic diseases	GUncertain significance
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 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 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)	Inborn genetic diseases	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)	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 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 2178485	NM_182961.4(SYNE1):c.26154-9T>C	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1965519	NM_182961.4(SYNE1):c.26154-16T>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +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=)	ESR1, SYNE1	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 +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +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)	not provided +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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +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)	not provided +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)	Familial cancer of breast +5 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)	Estrogen resistance syndrome +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	ESR1, SYNE1	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
Select item 1215489	NM_000125.4(ESR1):c.1369+215A>G	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 1207786	NM_000125.4(ESR1):c.1235+255CA[3]	ESR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199647	NM_000125.4(ESR1):c.*296A>G	ESR1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1196773	NM_000125.4(ESR1):c.760+184G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194976	NM_000125.4(ESR1):c.1096+15C>T	ESR1	Single nucleotide variant (intron 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 1191482	NM_000125.4(ESR1):c.760+85G>A	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190926	NM_000125.4(ESR1):c.452+270C>G	ESR1	Single nucleotide variant (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 1188029	NM_000125.4(ESR1):c.453-200G>T	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186993	NM_000125.4(ESR1):c.644-301del	ESR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1185886	NM_000125.4(ESR1):c.-170C>T	ESR1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1182727	NM_182961.4(SYNE1):c.26154-249G>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181618	NM_000125.4(ESR1):c.643+63C>T	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1180138	NM_000125.4(ESR1):c.761-163T>C	ESR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1176214	NM_000125.4(ESR1):c.1638C>T (p.Ala546=)	ESR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1150698	NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1132452	NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1117125	NM_000125.4(ESR1):c.1705G>A (p.Ala569Thr)	ESR1 (A568T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1077449	NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1057430	NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)	ESR1, SYNE1 (R8690fs +2 more)	Deletion (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	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 1047425	NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)	ESR1, SYNE1 (N8744S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1042408	NM_182961.4(SYNE1):c.26154-10C>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign

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