"GeneDx"[submitter] AND "ESRRB"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1196713	NM_001379180.1(ESRRB):c.51-305C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328606	NM_001379180.1(ESRRB):c.51-18C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163416	NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly)	ESRRB (R6G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 45001	NM_001379180.1(ESRRB):c.144C>A (p.Ile48=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 314481	NM_001379180.1(ESRRB):c.177G>A (p.Ser59=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314482	NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser)	ESRRB (G43S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44998	NM_001379180.1(ESRRB):c.204G>C (p.Leu68=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 178342	NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val)	ESRRB (A48V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2395176	NM_001379180.1(ESRRB):c.278G>A (p.Cys93Tyr)	ESRRB (C77Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3253223	NM_001379180.1(ESRRB):c.322T>G (p.Ser108Ala)	ESRRB (S108A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2506864	NM_001379180.1(ESRRB):c.340T>C (p.Tyr114His)	ESRRB (Y114H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682629	NM_001379180.1(ESRRB):c.460+56T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266600	NM_001379180.1(ESRRB):c.460+64T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682630	NM_001379180.1(ESRRB):c.460+100T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248448	NM_001379180.1(ESRRB):c.461-263A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186286	NM_001379180.1(ESRRB):c.461-249C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233043	NM_001379180.1(ESRRB):c.461-214A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243235	NM_001379180.1(ESRRB):c.461-158A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222824	NM_001379180.1(ESRRB):c.461-116A>G	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209439	NM_001379180.1(ESRRB):c.461-115C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283925	NM_001379180.1(ESRRB):c.461-112G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507803	NM_001379180.1(ESRRB):c.482C>T (p.Pro161Leu)	ESRRB (P161L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579911	NM_001379180.1(ESRRB):c.517C>T (p.Arg173Cys)	ESRRB (R152C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662378	NM_001379180.1(ESRRB):c.536G>A (p.Cys179Tyr)	ESRRB (C158Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575012	NM_001379180.1(ESRRB):c.558A>G (p.Lys186=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 683345	NM_001379180.1(ESRRB):c.577+21G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199922	NM_001379180.1(ESRRB):c.577+31G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200348	NM_001379180.1(ESRRB):c.577+45G>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254332	NM_001379180.1(ESRRB):c.578-96dup	ESRRB	Duplication (intron variant)	not provided	GBenign
Select item 1800765	NM_001379180.1(ESRRB):c.598C>T (p.Arg200Cys)	ESRRB (R179C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663215	NM_001379180.1(ESRRB):c.599G>T (p.Arg200Leu)	ESRRB (R179L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695771	NM_001379180.1(ESRRB):c.623G>A (p.Arg208Gln)	ESRRB (R187Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1370126	NM_001379180.1(ESRRB):c.625C>T (p.Arg209Trp)	ESRRB (R209W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1254486	NM_001379180.1(ESRRB):c.688+13G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283975	NM_001379180.1(ESRRB):c.689-79T>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1420503	NM_001379180.1(ESRRB):c.742A>G (p.Met248Val)	ESRRB (M248V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163420	NM_001379180.1(ESRRB):c.765G>A (p.Glu255=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2507350	NM_001379180.1(ESRRB):c.815T>A (p.Leu272His)	ESRRB (L251H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704188	NM_001379180.1(ESRRB):c.823A>G (p.Ile275Val)	ESRRB (I254V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218512	NM_001379180.1(ESRRB):c.850+47G>A	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208462	NM_001379180.1(ESRRB):c.850+55C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234085	NM_001379180.1(ESRRB):c.850+190C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233331	NM_001379180.1(ESRRB):c.851-45G>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045120	NM_001379180.1(ESRRB):c.851-2A>T	ESRRB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 226637	NM_001379180.1(ESRRB):c.876C>T (p.Asp292=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 504569	NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)	ESRRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1695704	NM_001379180.1(ESRRB):c.934C>T (p.Arg312Cys)	ESRRB (R291C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45002	NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=)	ESRRB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 666697	NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn)	ESRRB (D296N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 228675	NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn)	ESRRB (D297N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 35 +2 more	GConflicting classifications of pathogenicity
Select item 3373000	NM_001379180.1(ESRRB):c.961G>A (p.Val321Met)	ESRRB (V300M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065107	NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp)	ESRRB (R322W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2428933	NM_001379180.1(ESRRB):c.1108C>T (p.Leu370Phe)	ESRRB (L349F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163421	NM_001379180.1(ESRRB):c.1120+8C>T	ESRRB	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227362	NM_001379180.1(ESRRB):c.1120+11C>T	ESRRB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1281469	NM_001379180.1(ESRRB):c.1121-265_1121-264insCA	ESRRB	Insertion (intron variant)	not provided	GBenign
Select item 673343	NM_001379180.1(ESRRB):c.1121-56C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218034	NM_001379180.1(ESRRB):c.1121-50A>C	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321787	NM_001379180.1(ESRRB):c.1121-44C>T	ESRRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703296	NM_001379180.1(ESRRB):c.1177G>C (p.Glu393Gln)	ESRRB (E372Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439666	NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys)	ESRRB (E372K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44995	NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser)	ESRRB (P386S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1305447	NM_001379180.1(ESRRB):c.1268C>T (p.Thr423Met)	ESRRB (T402M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44996	NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)	ESRRB (V413I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1313365	NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu)	ESRRB (V454L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1206766	NM_001379180.1(ESRRB):c.*13C>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1331255	NM_001379180.1(ESRRB):c.*43C>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1259262	NM_001379180.1(ESRRB):c.*125C>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1223189	NM_001379180.1(ESRRB):c.*126G>A	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1290591	NM_001379180.1(ESRRB):c.*175T>C	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1216056	NM_001379180.1(ESRRB):c.*258C>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1185926	NM_001379180.1(ESRRB):c.*263C>A	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1283132	NM_001379180.1(ESRRB):c.*1107A>G	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1263106	NM_001379180.1(ESRRB):c.*1161T>G	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1181569	NM_001379180.1(ESRRB):c.*1292A>G	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 683099	NM_001379180.1(ESRRB):c.*1350G>A	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 44997	NM_001379180.1(ESRRB):c.*1474T>C	ESRRB (F456L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163424	NM_001379180.1(ESRRB):c.*1517C>T	ESRRB (P470L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 314488	NM_001379180.1(ESRRB):c.*1527C>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1193344	NM_001379180.1(ESRRB):c.*1534C>T	ESRRB (R476C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 44999	NM_001379180.1(ESRRB):c.*1535G>A	ESRRB (R476H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163425	NM_001379180.1(ESRRB):c.*1546C>T	ESRRB (P480S)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35 +2 more	GConflicting classifications of pathogenicity
Select item 884543	NM_001379180.1(ESRRB):c.*1556T>C	ESRRB (L483P)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 35 +1 more	GConflicting classifications of pathogenicity
Select item 1305465	NM_001379180.1(ESRRB):c.*1598C>A	ESRRB (P497Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1248476	NM_001379180.1(ESRRB):c.*1834G>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1214825	NM_001379180.1(ESRRB):c.*1892G>A	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1183073	NM_001379180.1(ESRRB):c.*2140C>T	ESRRB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1331331	NM_001379180.1(ESRRB):c.*2238G>A	ESRRB (G501E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 314489	NM_001379180.1(ESRRB):c.*2287G>A	ESRRB	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 35 +1 more	GConflicting classifications of pathogenicity
Select item 314492	NM_001379180.1(ESRRB):c.*2504T>C	ESRRB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314493	NM_001379180.1(ESRRB):c.*2574C>A	ESRRB	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 35 +1 more	GBenign

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Items: 93