ESRRA[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 3276513	NM_004451.5(ESRRA):c.22A>C (p.Ile8Leu)	ESRRA (I8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276514	NM_004451.5(ESRRA):c.50C>T (p.Pro17Leu)	ESRRA (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485478	NM_004451.5(ESRRA):c.73G>A (p.Gly25Ser)	ESRRA (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090575	NM_004451.5(ESRRA):c.80C>T (p.Ser27Leu)	ESRRA (S27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746573	NM_004451.5(ESRRA):c.81G>A (p.Ser27=)	ESRRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789313	NM_004451.5(ESRRA):c.92C>T (p.Thr31Ile)	ESRRA (T31I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321605	NM_004451.5(ESRRA):c.98C>T (p.Pro33Leu)	ESRRA (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541672	NM_004451.5(ESRRA):c.112G>A (p.Ala38Thr)	ESRRA (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319345	NM_004451.5(ESRRA):c.171G>C (p.Glu57Asp)	ESRRA (E57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605724	NM_004451.5(ESRRA):c.190C>A (p.Gln64Lys)	ESRRA (Q64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090569	NM_004451.5(ESRRA):c.193G>C (p.Gly65Arg)	ESRRA (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090570	NM_004451.5(ESRRA):c.196G>A (p.Gly66Ser)	ESRRA (G66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794487	NM_004451.5(ESRRA):c.258C>T (p.Ala86=)	ESRRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3090571	NM_004451.5(ESRRA):c.414G>C (p.Lys138Asn)	ESRRA (K138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090572	NM_004451.5(ESRRA):c.460G>A (p.Val154Ile)	ESRRA (V154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090573	NM_004451.5(ESRRA):c.521G>A (p.Gly174Asp)	ESRRA (G174D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337498	NM_004451.5(ESRRA):c.530C>G (p.Pro177Arg)	ESRRA (P177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374746	NM_004451.5(ESRRA):c.542T>C (p.Leu181Pro)	ESRRA (L181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324806	NM_004451.5(ESRRA):c.550G>A (p.Ala184Thr)	ESRRA (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090574	NM_004451.5(ESRRA):c.673G>A (p.Val225Met)	ESRRA (V224M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468117	NM_004451.5(ESRRA):c.677C>G (p.Ala226Gly)	ESRRA (A225G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741919	NM_004451.5(ESRRA):c.861T>C (p.Ala287=)	ESRRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238984	NM_004451.5(ESRRA):c.863A>T (p.Glu288Val)	ESRRA (E288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532425	NM_004451.5(ESRRA):c.899C>G (p.Ala300Gly)	ESRRA (A299G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276515	NM_004451.5(ESRRA):c.959G>A (p.Arg320Gln)	ESRRA (R320Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463537	NM_004451.5(ESRRA):c.1081G>C (p.Glu361Gln)	ESRRA (E361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090568	NM_004451.5(ESRRA):c.1093G>A (p.Gly365Ser)	ESRRA (G364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285227	NM_004451.5(ESRRA):c.1112G>C (p.Gly371Ala)	ESRRA (G371A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465164	NM_004451.5(ESRRA):c.1117G>A (p.Ala373Thr)	ESRRA (A373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379023	NM_004451.5(ESRRA):c.1257G>T (p.Glu419Asp)	ESRRA (E418D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 41