Unique variants in the NR2F1 gene

Information The variants shown are described using the NM_005654.4 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 - c.-506041_*1935315del r.0? p.0? - likely pathogenic (dominant) g.92414689_94864863del - chr5:92,414,689-94,864,863 (hg19/GRCh37) - NR2F1_000063 - PubMed: Rech 2020 - - Germline ? - - - - Benjamin Billiet
+?/. 1 - c.-325733_*639854del r.0? p.0? - likely pathogenic (dominant) g.92594997_93569402del - chr5:92,594,997-93,569,402 (hg19) - NR2F1_000064 - PubMed: Rech 2020 - - Unknown ? - - - - Benjamin Billiet
+/. 2 _1_3_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic (dominant) g.(?_91064110)_(93896378_?)del, g.(?_92845157)_(93679748_?)del - 91064110–93896378del, 92845157–93679748del - NR2F1_000006 0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable, 2.85 Mb deletion PubMed: Bosch 2014, Journal: Bosch 2014 - - De novo, Unknown yes - - - - Johan den Dunnen
+?/. 9 _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(92593206_92691223)_(92784673_93074143)del, g.(?_90566268)_(95580992_?)del, 6 more items - 90566268_95580992del, 92856299_93054636 del, 92878375_94046216del, 92910393_93806933del, 1 more item arr 5q15(92845157–93679748)x1, arr SNP 5q14.3q15(SNP_A-1810903–SNP_A-1788922)x1 NR2F1_000043, NR2F1_000045, NR2F1_000046, NR2F1_000047, NR2F1_000049, NR2F1_000050, NR2F1_000062 0.2Mb deletion, 0.83Mb deletion, 0.9Mb deletion, 1.2Mb deletion, 2.85Mb deletion, 5Mb deletion, 2 more items PubMed: Al-Kateb 2013, PubMed: Bosch 2014, PubMed: Brown 2010, PubMed: Chen 2017 - - De novo, Uniparental disomy, paternal allele, Unknown ?, yes - - - - Benjamin Billiet
+?/. 2 - c.2T>C r.? p.? - likely pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Bertacchi 2020, PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
+?/. 1 - c.2_4delinsTGG r.(=) p.(=) - likely pathogenic (dominant) g.92920731_92920733delinsTGG - - - NR2F1_000042 - PubMed: Chen 2017 - - De novo ? - - - - Benjamin Billiet
?/. 1 - c.49G>C r.(?) p.(Gly17Arg) - VUS g.92920778G>C g.93585072G>C - - NR2F1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.73C>G r.(?) p.(Pro25Ala) - VUS g.92920802C>G g.93585096C>G - - NR2F1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.78_96del r.(?) p.(Gln28Alafs*85) ACMG likely pathogenic (dominant) g.92920807_92920825del g.93585101_93585119del - - NR2F1_000033 ACMG grading: PVS1,PM2 - - - Germline - - - - - Andreas Laner
+?/. 1 - c.82C>T r.(?) p.(Gln28*) - likely pathogenic (dominant) g.92920811C>T - - - NR2F1_000037 - PubMed: Bojanek(2019) - - De novo ? - - - - Benjamin Billiet
+?/. 1 - c.103_113delinsCGCCGCCGC r.(?) p.(Gly35Argfs*361) - likely pathogenic (dominant) g.92920832_92920842delinsCGCCGCCGC - - - NR2F1_000053 - PubMed: Chen 2017 - - De novo ? - - - - Benjamin Billiet
?/. 1 - c.107G>C r.(?) p.(Gly36Ala) - VUS g.92920836G>C g.93585130G>C NR2F1(NM_005654.5):c.107G>C (p.G36A) - NR2F1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.237G>C r.(?) p.(Gln79His) - likely benign g.92920966G>C g.93585260G>C NR2F1(NM_005654.5):c.237G>C (p.Q79H) - NR2F1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.257G>T r.(?) p.(Cys86Phe) - likely pathogenic (dominant) g.92920986G>T - - - NR2F1_000039 - PubMed: Kaiwar 2017 - - De novo ? - - - - Benjamin Billiet
?/. 1 - c.284G>T r.(?) p.(Gly95Val) - VUS g.92921013G>T g.93585307G>T NR2F1(NM_005654.4):c.284G>T (p.(Gly95Val)) - NR2F1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.286A>G r.(?) p.(Lys96Glu) - pathogenic (dominant) g.92921015A>G - - - NR2F1_000040 - PubMed: Martin-Hernandez 2019 - - De novo ? - - - - Benjamin Billiet
+?/. 1 - c.289C>T r.(?) p.(His97Tyr) ACMG likely pathogenic (dominant) g.92921018C>T g.93585312C>T - - NR2F1_000029 ACMG grading: PM6,PP3,PS1,PM2 - - - Germline - - - - - Andreas Laner
+?/. 1 - c.291del r.(?) p.(Tyr98Thrfs*21) - likely pathogenic (dominant) g.92921020del - 291delC (His79Hisfs*22) - NR2F1_000055 - PubMed: Chen 2017 - - De novo ? - - - - Benjamin Billiet
+/., +?/. 2 - c.313G>A r.(?) p.(Gly105Ser) - likely pathogenic (dominant) g.92921042G>A - - - NR2F1_000034 - PubMed: Mio 2020 - - De novo yes - - - - Benjamin Billiet
+/. 1 - c.314G>A r.(?) p.(Gly105Asp) - pathogenic g.92921043G>A g.93585337G>A - - NR2F1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.319A>G r.(?) p.(Lys107Glu) - pathogenic (dominant) g.92921048A>G - - - NR2F1_000035 - PubMed: Starosta 2020 - - De novo ? - - - - Benjamin Billiet
?/. 1 - c.320A>G r.(?) p.(Lys107Arg) - VUS g.92921049A>G g.93585343A>G NR2F1(NM_005654.5):c.320A>G (p.K107R) - NR2F1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.335G>A r.(?) p.(Arg112Lys) - pathogenic (dominant) g.92921064G>A g.93585358G>A - - NR2F1_000004 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0004 - rs587777277 De novo - - - - - Johan den Dunnen
+/. 2 1 c.339C>A r.(?) p.(Ser113Arg) - pathogenic, pathogenic (dominant) g.92921068C>A g.93585362C>A - - NR2F1_000001 VKGL data sharing initiative Nederland PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0002, PubMed: Bosch 2016, Journal: Bosch 2016 - rs587777275 CLASSIFICATION record, De novo - - - - - Danielle Bosch, VKGL-NL_Nijmegen
+/. 1 1 c.344G>C r.(?) p.(Arg115Pro) - pathogenic (dominant) g.92921073G>C g.93585367G>C - - NR2F1_000002 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0001 - - De novo - - - - - Danielle Bosch
+?/. 1 - c.366C>G r.(?) p.(Cys122Trp) - likely pathogenic (dominant) g.92921095C>G - - - NR2F1_000086 - PubMed: Balciuniene 2019 - - Unknown ? - - - - Benjamin Billiet
+?/. 1 - c.382T>C r.(?) p.(Cys128Arg) - likely pathogenic (dominant) g.92921111T>C - - - NR2F1_000041 - PubMed: Chen 2017 - - De novo ? - - - - Benjamin Billiet
+?/. 1 - c.403C>T r.(?) p.(Arg135Cys) - likely pathogenic g.92921132C>T g.93585426C>T - - NR2F1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 1 c.413G>A r.(?) p.(Cys138Tyr) - likely pathogenic (dominant), pathogenic (dominant) g.92921142G>A g.93585436G>A - - NR2F1_000007 - PubMed: Chen 2017, PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo -, ? - - - - Johan den Dunnen, Benjamin Billiet
+?/. 1 - c.436T>C r.(?) p.(Cys146Arg) - likely pathogenic g.92921165T>C g.93585459T>C NR2F1(NM_005654.5):c.436T>C (p.C146R) - NR2F1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.452T>C r.(?) p.(Met151Thr) - VUS g.92921181T>C g.93585475T>C NR2F1(NM_005654.5):c.452T>C (p.M151T) - NR2F1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.463G>A r.(?) p.(Ala155Thr) - likely pathogenic g.92921192G>A g.93585486G>A - - NR2F1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.513C>G r.(?) p.(Tyr171*) - likely pathogenic (dominant) g.92923672C>G - - - NR2F1_000038 - PubMed: Park 2019 - - De novo ? - - - - Benjamin Billiet
+/. 1 - c.603_606del r.(?) p.(Arg202Thrfs*154) - pathogenic g.92923762_92923765del - NR2F1(NM_005654.5):c.603_606delGCGC (p.R202Tfs*154) - NR2F1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.708C>T r.(?) p.(Asn236=) - likely benign g.92923867C>T g.93588161C>T NR2F1(NM_005654.5):c.708C>T (p.N236=) - NR2F1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.755T>C r.(?) p.(Leu252Pro) - pathogenic (dominant) g.92923914T>C g.93588208T>C - - NR2F1_000003 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0003 - rs587777276 De novo - - - - - Johan den Dunnen
+/+ 1 2 c.854C>A r.(?) p.(Ser285*) - pathogenic (dominant) g.92924013C>A - - - NR2F1_000090 - - - - Germline/De novo (untested) ? - - - - Marc Ferre
?/. 1 2 c.909G>C r.(?) p.(Gln303His) - VUS g.92924068G>C g.93588362G>C - - NR2F1_000005 not associated with disease phneotype PubMed: Bosch 2014, Journal: Bosch 2014 - - Germline no - - - - Johan den Dunnen
+/. 1 - c.954G>C r.(?) p.(Glu318Asp) - pathogenic g.92924113G>C g.93588407G>C - - NR2F1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 2 c.965T>A r.(?) p.(Leu322His) - likely pathogenic (dominant) g.92924124T>A - - - NR2F1_000091 - - - - Germline/De novo (untested) ? - - - - Marc Ferre
+?/. 1 - c.968A>C r.(?) p.(Lys323Thr) - likely pathogenic g.92924127A>C g.93588421A>C - - NR2F1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.968_969del r.(?) p.(Lys323Serfs*73) - likely pathogenic (dominant) g.92924127_92924128del - 967_968delAA - NR2F1_000061 - PubMed: Bertacchi 2020 - - De novo ? - - - - Benjamin Billiet
-/. 1 - c.991+19G>A r.(=) p.(=) - benign g.92924169G>A g.93588463G>A NR2F1(NM_005654.5):c.991+19G>A - NR2F1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1016C>T r.(?) p.(Ala339Val) - likely benign g.92929292C>T g.93593586C>T NR2F1(NM_005654.5):c.1016C>T (p.A339V) - NR2F1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1025A>G r.(?) p.(Glu342Gly) - VUS g.92929301A>G g.93593595A>G NR2F1(NM_005654.5):c.1025A>G (p.E342G) - NR2F1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1096C>T r.(?) p.(Arg366Cys) - likely pathogenic g.92929372C>T g.93593666C>T - - NR2F1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1117C>T r.(?) p.(Arg373Ter) - pathogenic g.92929393C>T g.93593687C>T - - NR2F1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1147_1149del r.(?) p.(Ser383del) - VUS g.92929423_92929425del - NR2F1(NM_005654.5):c.1147_1149delTCC (p.S383del) - NR2F1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1158G>T r.(?) p.(Glu386Asp) - VUS g.92929434G>T g.93593728G>T NR2F1(NM_005654.5):c.1158G>T (p.E386D) - NR2F1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 3 c.1168_1170del r.(?) p.(Phe390del) ACMG VUS (!) g.92929444_92929446del - - - NR2F1_000087 ACMG: PM2; PM4; PP3 class 3 - ClinVar-000420405 - Germline ? - - - - Andreas Laner
+?/. 1 - c.1183G>T r.(?) p.(Gly395Cys) - likely pathogenic g.92929459G>T g.93593753G>T - - NR2F1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1184G>A r.(?) p.(Gly395Asp) - likely pathogenic g.92929460G>A - - - NR2F1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1217T>C r.(?) p.(Met406Thr) - likely pathogenic (dominant) g.92929493T>C - - - NR2F1_000036 - PubMed: Jzela-Stanek - - De novo ? - - - - Benjamin Billiet
-?/. 1 - c.*9C>T r.(=) p.(=) - likely benign g.92929557C>T g.93593851C>T NR2F1(NM_005654.5):c.*9C>T - NR2F1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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