NR5A2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 741542	NM_205860.3(NR5A2):c.81C>T (p.Asp27=)	NR5A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2467604	NM_205860.3(NR5A2):c.196A>G (p.Met66Val)	NR5A2 (M66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780293	NM_205860.3(NR5A2):c.333G>A (p.Lys111=)	NR5A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726405	NM_205860.3(NR5A2):c.464-5A>C	NR5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3201983	NM_205860.3(NR5A2):c.466G>A (p.Val156Ile)	NR5A2 (V84I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243944	NM_205860.3(NR5A2):c.565A>C (p.Asn189His)	NR5A2 (N189H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929741	NM_205860.3(NR5A2):c.681T>G (p.His227Gln)	NR5A2 (H155Q +2 more)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 3300980	NM_205860.3(NR5A2):c.708C>A (p.Asp236Glu)	NR5A2 (D190E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279562	NM_205860.3(NR5A2):c.731C>G (p.Pro244Arg)	NR5A2 (P198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405902	NM_205860.3(NR5A2):c.737G>A (p.Ser246Asn)	NR5A2 (S246N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201984	NM_205860.3(NR5A2):c.756C>G (p.His252Gln)	NR5A2 (H180Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344750	NM_205860.3(NR5A2):c.770G>T (p.Gly257Val)	NR5A2 (G185V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201985	NM_205860.3(NR5A2):c.793C>G (p.Pro265Ala)	NR5A2 (P193A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492511	NM_205860.3(NR5A2):c.799C>T (p.Arg267Trp)	NR5A2 (R221W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358372	NM_205860.3(NR5A2):c.848C>T (p.Ser283Phe)	NR5A2 (S237F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221936	NM_205860.3(NR5A2):c.884C>T (p.Thr295Met)	NR5A2 (T295M +2 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 3300981	NM_205860.3(NR5A2):c.896C>T (p.Ala299Val)	NR5A2 (A227V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530078	NM_205860.3(NR5A2):c.905C>A (p.Pro302Gln)	NR5A2 (P302Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201987	NM_205860.3(NR5A2):c.998G>A (p.Arg333Gln)	NR5A2 (R287Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786993	NM_205860.3(NR5A2):c.998G>C (p.Arg333Pro)	NR5A2 (R287P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2294585	NM_205860.3(NR5A2):c.1006C>G (p.His336Asp)	NR5A2 (H264D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207916	NM_205860.3(NR5A2):c.1052A>T (p.Gln351Leu)	NR5A2 (Q351L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2252948	NM_205860.3(NR5A2):c.1088G>A (p.Ser363Asn)	NR5A2 (S363N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201980	NM_205860.3(NR5A2):c.1141T>C (p.Cys381Arg)	NR5A2 (C335R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403261	NM_205860.3(NR5A2):c.1230+29_1230+30dup	NR5A2	Duplication (intron variant)	not specified	GBenign
Select item 2253570	NM_205860.3(NR5A2):c.1304T>C (p.Val435Ala)	NR5A2 (V363A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317557	NM_205860.3(NR5A2):c.1321C>T (p.Leu441Phe)	NR5A2 (L369F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201981	NM_205860.3(NR5A2):c.1337G>T (p.Arg446Leu)	NR5A2 (R400L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 3300979	NM_205860.3(NR5A2):c.1380T>G (p.Asp460Glu)	NR5A2 (D388E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300982	NM_205860.3(NR5A2):c.1505G>A (p.Arg502Gln)	NR5A2 (R430Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353222	NM_205860.3(NR5A2):c.1520G>A (p.Arg507Gln)	NR5A2 (R507Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201982	NM_205860.3(NR5A2):c.1570G>A (p.Gly524Arg)	NR5A2 (G478R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227585	NM_205860.3(NR5A2):c.1598T>C (p.Ile533Thr)	NR5A2 (I461T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685836	GRCh37/hg19 1q32.1(chr1:199128985-200237467)x3	NR5A2	Copy number gain	not provided	GUncertain significance
Select item 2685799	GRCh37/hg19 1q32.1(chr1:200101833-200319076)x1	NR5A2	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 52