NR6A1[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 790625	NM_033334.4(NR6A1):c.1427G>A (p.Ser476Asn)	NR6A1 (S471N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3201990	NM_033334.4(NR6A1):c.1317T>A (p.Asp439Glu)	NR6A1 (D439E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269612	NM_033334.4(NR6A1):c.1282T>C (p.Tyr428His)	NR6A1 (Y427H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201989	NM_033334.4(NR6A1):c.1098G>A (p.Met366Ile)	NR6A1 (M361I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740256	NM_033334.4(NR6A1):c.1095G>C (p.Gly365=)	NR6A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224901	NM_033334.4(NR6A1):c.1090G>A (p.Glu364Lys)	NR6A1 (E364K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201988	NM_033334.4(NR6A1):c.1080A>C (p.Arg360Ser)	NR6A1 (R356S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520517	NM_033334.4(NR6A1):c.1063G>A (p.Asp355Asn)	NR6A1 (D350N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531408	NM_033334.4(NR6A1):c.931C>G (p.Leu311Val)	NR6A1 (L306V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238659	NM_033334.4(NR6A1):c.883C>T (p.Leu295Phe)	NR6A1 (L290F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787346	NM_033334.4(NR6A1):c.873C>T (p.Ala291=)	NR6A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374299	NM_033334.4(NR6A1):c.829G>A (p.Ala277Thr)	NR6A1 (A272T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595280	NM_033334.4(NR6A1):c.815T>C (p.Ile272Thr)	NR6A1 (I268T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379723	NM_033334.4(NR6A1):c.758T>A (p.Leu253Gln)	NR6A1 (L253Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377960	NM_033334.4(NR6A1):c.718C>T (p.Pro240Ser)	NR6A1 (P239S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592517	NM_033334.4(NR6A1):c.715C>A (p.Leu239Met)	NR6A1 (L239M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201993	NM_033334.4(NR6A1):c.670C>A (p.Gln224Lys)	NR6A1 (Q220K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201992	NM_033334.4(NR6A1):c.664C>T (p.His222Tyr)	NR6A1 (H217Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335562	NM_033334.4(NR6A1):c.639G>T (p.Gln213His)	NR6A1 (Q213H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201991	NM_033334.4(NR6A1):c.625G>A (p.Ala209Thr)	NR6A1 (A205T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558492	NM_033334.4(NR6A1):c.356A>G (p.Lys119Arg)	NR6A1 (K119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659495	NM_033334.4(NR6A1):c.242A>G (p.Lys81Arg)	NR6A1 (K77R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380479	NM_033334.4(NR6A1):c.197G>A (p.Arg66His)	NR6A1 (R66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201994	NM_033334.4(NR6A1):c.99C>G (p.Asn33Lys)	NR6A1 (N33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230362	NM_033334.4(NR6A1):c.80T>G (p.Leu27Arg)	NR6A1 (L27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382166	NM_033334.4(NR6A1):c.70C>T (p.Pro24Ser)	NR6A1 (P24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212190	NM_033334.4(NR6A1):c.62T>A (p.Leu21Gln)	NR6A1 (L21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402714	NM_033334.4(NR6A1):c.56G>A (p.Gly19Glu)	NR6A1 (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355581	NM_033334.4(NR6A1):c.20C>A (p.Pro7Gln)	NR6A1 (P7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534348	NM_033334.4(NR6A1):c.17C>G (p.Pro6Arg)	NR6A1 (P6R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216888	NM_033334.4(NR6A1):c.17C>T (p.Pro6Leu)	NR6A1 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377561	NM_033334.4(NR6A1):c.8G>A (p.Arg3Gln)	NR6A1 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063097	GRCh37/hg19 9q33.3(chr9:127471268-127701091)x3	ARPC5L, GOLGA1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527558	GRCh37/hg19 9q33.3(chr9:126938795-127335905)	ADGRD2, NEK6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395540	GRCh37/hg19 9q33.3(chr9:127269352-127294297)x3	NR5A1, NR6A1	Copy number gain	See cases	GLikely benign
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 62