NR2F1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1231213	NM_005654.6(NR2F1):c.464-43C>T	NR2F1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2913114	NM_005654.6(NR2F1):c.464-20TC[2]	NR2F1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1645248	NM_005654.6(NR2F1):c.464-19C>T	NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181859	NM_005654.6(NR2F1):c.464-11_464-8del	NR2F1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2724599	NM_005654.6(NR2F1):c.464-7_464-6del	NR2F1	Deletion (intron variant)	not provided	GLikely benign
Select item 1644546	NM_005654.6(NR2F1):c.465G>T (p.Ala155=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430651	NM_005654.6(NR2F1):c.471G>T (p.Gln157His)	NR2F1 (Q157H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011597	NM_005654.6(NR2F1):c.495_496delinsAA (p.Pro166Thr)	NR2F1 (P166T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1320275	NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu)	NR2F1 (P166L)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 426684	NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser)	NR2F1 (G169S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1048564	NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter)	NR2F1	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 3353136	NM_005654.6(NR2F1):c.514G>C (p.Ala172Pro)	NR2F1 (A172P +1 more)	Single nucleotide variant (missense variant)	NR2F1-related disorder	GUncertain significance
Select item 1939600	NM_005654.6(NR2F1):c.517C>T (p.Leu173Phe)	NR2F1 (L173F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538213	NM_005654.6(NR2F1):c.519C>T (p.Leu173=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364857	NM_005654.6(NR2F1):c.530A>G (p.Asp177Gly)	NR2F1 (D177G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388773	NM_005654.6(NR2F1):c.531C>T (p.Asp177=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1022849	NM_005654.6(NR2F1):c.533C>T (p.Pro178Leu)	NR2F1 (P178L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509286	NM_005654.6(NR2F1):c.540C>T (p.Asn180=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613241	NM_005654.6(NR2F1):c.547del (p.Cys183fs)	NR2F1 (C33fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1310065	NM_005654.6(NR2F1):c.547T>A (p.Cys183Ser)	NR2F1 (C183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514665	NM_005654.6(NR2F1):c.558C>T (p.Ser186=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2635116	NM_005654.6(NR2F1):c.559G>C (p.Gly187Arg)	NR2F1 (G187R +1 more)	Single nucleotide variant (missense variant)	NR2F1-related disorder	GUncertain significance
Select item 2893762	NM_005654.6(NR2F1):c.585C>G (p.Ala195=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451360	NM_005654.6(NR2F1):c.597dup (p.Thr200fs)	NR2F1 (T200fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2708042	NM_005654.6(NR2F1):c.597del (p.Thr200fs)	NR2F1 (T200fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2061928	NM_005654.6(NR2F1):c.594C>T (p.Tyr198=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1189871	NM_005654.6(NR2F1):c.601T>A (p.Ser201Thr)	NR2F1 (S201T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2434432	NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter)	NR2F1 (Q206* +1 more)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 1447292	NM_005654.6(NR2F1):c.632ACA[1] (p.Asn212del)	NR2F1 (N212del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2092557	NM_005654.6(NR2F1):c.639T>A (p.Ile213=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106600	NM_005654.6(NR2F1):c.645C>G (p.Gly215=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986999	NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs)	NR2F1 (A223fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2575644	NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro)	NR2F1 (L222P +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 515829	NM_005654.6(NR2F1):c.666G>A (p.Leu222=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1803584	NM_005654.6(NR2F1):c.674G>C (p.Arg225Pro)	NR2F1 (R225P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810696	NM_005654.6(NR2F1):c.677T>G (p.Leu226Arg)	NR2F1 (L226R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985403	NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup)	NR2F1	Duplication (inframe_insertion)	Inborn genetic diseases	GLikely pathogenic
Select item 1567689	NM_005654.6(NR2F1):c.681C>T (p.Leu227=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065466	NM_005654.6(NR2F1):c.687C>A (p.Ser229Arg)	NR2F1 (S229R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804198	NM_005654.6(NR2F1):c.690C>T (p.Ala230=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1700111	NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu)	NR2F1 (R235L)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GPathogenic
Select item 512494	NM_005654.6(NR2F1):c.708C>T (p.Asn236=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813371	NM_005654.6(NR2F1):c.711C>G (p.Ile237Met)	NR2F1 (I237M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748880	NM_005654.6(NR2F1):c.717C>G (p.Phe239Leu)	NR2F1 (F239L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037326	NM_005654.6(NR2F1):c.726T>C (p.Asp242=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 545435	NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter)	NR2F1 (Q244*)	Indel (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 1579888	NM_005654.6(NR2F1):c.741C>T (p.Asp247=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3300949	NM_005654.6(NR2F1):c.748T>G (p.Ser250Ala)	NR2F1 (S250A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308582	NM_005654.6(NR2F1):c.755T>A (p.Leu252Gln)	NR2F1 (L252Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126495	NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)	NR2F1 (L252P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1254371	NM_005654.6(NR2F1):c.756A>G (p.Leu252=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911784	NM_005654.6(NR2F1):c.764C>G (p.Thr255Ser)	NR2F1 (T105S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1083405	NM_005654.6(NR2F1):c.765C>G (p.Thr255=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141442	NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser)	NR2F1 (N113S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1215041	NM_005654.6(NR2F1):c.801C>T (p.Cys267=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994279	NM_005654.6(NR2F1):c.803C>A (p.Ser268Tyr)	NR2F1 (S118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572794	NM_005654.6(NR2F1):c.807G>A (p.Met269Ile)	NR2F1 (M119I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 755390	NM_005654.6(NR2F1):c.810G>A (p.Pro270=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639817	NM_005654.6(NR2F1):c.811C>T (p.Leu271=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087617	NM_005654.6(NR2F1):c.816C>T (p.His272=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699474	NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter)	NR2F1 (L276*)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1636716	NM_005654.6(NR2F1):c.834C>T (p.Ala278=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016536	NM_005654.6(NR2F1):c.840C>T (p.Ala280=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886451	NM_005654.6(NR2F1):c.843C>T (p.Gly281=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163333	NM_005654.6(NR2F1):c.852C>T (p.Ala284=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1307701	NM_005654.6(NR2F1):c.854C>T (p.Ser285Leu)	NR2F1 (S285L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387854	NM_005654.6(NR2F1):c.859A>T (p.Met287Leu)	NR2F1 (M287L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618393	NM_005654.6(NR2F1):c.867C>T (p.Ala289=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438604	NM_005654.6(NR2F1):c.886A>G (p.Met296Val)	NR2F1 (M296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661101	NM_005654.6(NR2F1):c.891C>T (p.Asp297=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980338	NM_005654.6(NR2F1):c.892C>A (p.His298Asn)	NR2F1 (H298N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740434	NM_005654.6(NR2F1):c.894C>T (p.His298=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369940	NM_005654.6(NR2F1):c.899G>A (p.Arg300His)	NR2F1 (R150H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873802	NM_005654.6(NR2F1):c.901A>G (p.Ile301Val)	NR2F1 (I301V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511648	NM_005654.6(NR2F1):c.903C>A (p.Ile301=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711198	NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter)	NR2F1 (Q153* +1 more)	Single nucleotide variant (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 1321279	NM_005654.6(NR2F1):c.916G>A (p.Val306Met)	NR2F1 (V306M)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 2769574	NM_005654.6(NR2F1):c.921G>C (p.Glu307Asp)	NR2F1 (E307D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495091	NM_005654.6(NR2F1):c.931G>A (p.Ala311Thr)	NR2F1 (A311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514396	NM_005654.6(NR2F1):c.939C>T (p.His313=)	NR2F1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2145296	NM_005654.6(NR2F1):c.940G>C (p.Val314Leu)	NR2F1 (V314L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117534	NM_005654.6(NR2F1):c.945C>T (p.Asp315=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695136	NM_005654.6(NR2F1):c.952G>T (p.Glu318Ter)	NR2F1 (E318*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1068140	NM_005654.6(NR2F1):c.953A>G (p.Glu318Gly)	NR2F1 (E318G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 827802	NM_005654.6(NR2F1):c.968_969del (p.Lys323fs)	NR2F1 (K323fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 2745210	NM_005654.6(NR2F1):c.973A>G (p.Ile325Val)	NR2F1 (I175V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835055	NM_005654.6(NR2F1):c.975C>T (p.Ile325=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926179	NM_005654.6(NR2F1):c.981G>A (p.Leu327=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976338	NM_005654.6(NR2F1):c.986_990del (p.Thr329fs)	NR2F1 (T329fs)	Deletion (frameshift variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 2131659	NM_005654.6(NR2F1):c.986C>T (p.Thr329Met)	NR2F1 (T179M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740132	NM_005654.6(NR2F1):c.987G>A (p.Thr329=)	NR2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012480	NM_005654.6(NR2F1):c.988T>G (p.Ser330Ala)	NR2F1 (S330A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042153	NM_005654.6(NR2F1):c.991+2T>A	NR2F1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2907315	NM_005654.6(NR2F1):c.991+9G>A	NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512911	NM_005654.6(NR2F1):c.991+10C>A	NR2F1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 511851	NM_005654.6(NR2F1):c.991+12del	NR2F1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 2961249	NM_005654.6(NR2F1):c.991+17_991+38dup	NR2F1	Duplication (intron variant)	not provided	GLikely benign
Select item 518199	NM_005654.6(NR2F1):c.991+19G>A	NR2F1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2710252	NM_005654.6(NR2F1):c.992-19C>T	NR2F1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391559	NM_005654.6(NR2F1):c.992-16G>A	NR2F1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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