All variants in the NR2F1 gene

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_005654.4 transcript reference sequence.

117 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
+/. - c.-506041_*1935315del r.0 p.0 - pathogenic (dominant) g.92414689_94864863del - chr5:92,414,689-94,864,863 (hg19/GRCh37) - NR2F1_000063 - PubMed: Rech 2020 - - Germline ? - - 0 - Benjamin Billiet
+/. - c.-325733_*639854del r.0 p.0 - pathogenic (dominant) g.92594997_93569402del - chr5:92,594,997-93,569,402 (hg19) - NR2F1_000064 - PubMed: Rech 2020 - - Unknown ? - - 0 - Benjamin Billiet
+/. _1_3_ c.-1687_*240{0} r.0 p.0 - pathogenic (dominant) g.(?_92845157)_(93679748_?)del - 92845157–93679748del - NR2F1_000043 0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable PubMed: Bosch 2014, Journal: Bosch 2014 - - Unknown - - - 0 - Marc Ferre
+/. _1_3_ c.-1687_*240{0} r.0 p.0 - pathogenic (dominant) g.(?_91064110)_(93896378_?)del - 91064110–93896378del - NR2F1_000006 2.85 Mb deletion PubMed: Bosch 2014, Journal: Bosch 2014 - - De novo yes - - 0 - Marc Ferre
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(?_92856299)_(93054636_?)del - 92856299_93054636 del - NR2F1_000043 0.2Mb deletion PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - 92910393_93806933del - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Unknown yes - - 0 - Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - - - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Uniparental disomy, paternal allele yes - - 0 - Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(?_92878375)_(94046216_?)del - 92878375_94046216del - NR2F1_000045 1.2Mb deletion PubMed: Chen 2016 - - Unknown ? - - 0 - Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(?_92717119)_(93298594_?)del - hg18 del 92,742,875 to 93,324,350 bp - NR2F1_000049 582 kb deletion incl. FLJ42709, NR2F1, FAM172A, POU5F2, MIR2277 PubMed: Al-Kateb 2013 - - De novo ? - - 0 - Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(92593206_92691223)_(92784673_93074143)del - - - NR2F1_000050 NR2F1 and AK124699 removed, C5ORF21 partially deleted, cryptic 450-460kB deletion near both q15 and 5q33.2 break points PubMed: Brown 2009 - - De novo ? - - 0 - Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 - likely pathogenic (dominant) g.(?_90566268)_(95580992_?)del - 90566268_95580992del - NR2F1_000062 5Mb deletion PubMed: Chen 2016 - - Unknown ? - - 0 - Benjamin Billiet
+/. - c.1A>G r.0 p.0 - pathogenic (dominant) g.92920730A>G - - - NR2F1_000065 - PubMed: Rech 2020 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2T>C r.0 p.0 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2T>C r.0 p.0 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Bertacchi 2020 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2T>C r.0 p.0 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2T>C r.0 p.0 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Rech 2020 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2T>G r.0 p.0 - pathogenic (dominant) g.92920731T>G - - - NR2F1_000052 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2T>G r.0 p.0 - pathogenic (dominant) g.92920731T>G - - - NR2F1_000052 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+/. - c.2_4delinsGGA r.0 p.0 - pathogenic (dominant) g.92920731_92920733delinsGGA - c.2_4delTGGinsGGA - NR2F1_000042 Inconsistency between the body of the manuscript (c.2_4delTGGinsGGA, p. 1146) and Table 1 (c.2_4delinsTGG) in the article by Chen et al, Genet Med (2016). Because the mutation named in the table is isosemantic and incompatible with the described protein consequence, the body of the manuscript was considered (c.2_4delTGGinsGGA, renamed according to HGVS nomenclature to c.2_4delinsGGA). PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
?/. - c.49G>C r.(?) p.(Gly17Arg) - VUS g.92920778G>C g.93585072G>C - - NR2F1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.51_69dup r.(?) p.(Asn24Glyfs*379) ACMG pathogenic g.92920780_92920798dup g.93585074_93585092dup - - NR2F1_000094 - - - - Germline/De novo (untested) - - - 0 - Jinu Han
?/. - c.73C>G r.(?) p.(Pro25Ala) - VUS g.92920802C>G g.93585096C>G - - NR2F1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.78_96del r.(?) p.(Gln28Alafs*85) ACMG likely pathogenic (dominant) g.92920807_92920825del g.93585101_93585119del - - NR2F1_000033 ACMG grading: PVS1,PM2 - - - Germline - - - 0 - Andreas Laner
+?/. - c.82C>T r.(?) p.(Gln28*) - likely pathogenic (dominant) g.92920811C>T - - - NR2F1_000037 - PubMed: Bojanek 2019 - - De novo ? - - 0 - Benjamin Billiet
+?/. - c.103_113delinsCGCCGCCGC r.(?) p.(Gly35Argfs*361) - likely pathogenic (dominant) g.92920832_92920842delinsCGCCGCCGC - - - NR2F1_000053 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
?/. - 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
+?/. - c.115G>T r.(?) p.(Glu39*) - likely pathogenic (dominant) g.92920844G>T - - - NR2F1_000054 - PubMed: Bertacchi 2020 - - De novo ? - - - - Benjamin Billiet
+?/. - c.192del r.(?) p.(Gly65Alafs*54) - likely pathogenic (dominant) g.92920921del - - - NR2F1_000092 - - - - Unknown ? - - - - Benjamin Billiet
-?/. - 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 - - - 0 - VKGL-NL_AMC
+?/. - c.237G>C r.(?) p.(Gln79His) - likely pathogenic (dominant) g.92920966G>C - - - NR2F1_000008 - - - - Germline yes - - - - Benjamin Billiet
+?/. - c.237G>C r.(?) p.(Gln79His) - likely pathogenic (dominant) g.92920966G>C - - - NR2F1_000008 - - - - Unknown yes - - - - Benjamin Billiet
?/. - c.253G>T r.(?) p.(Glu85*) - likely pathogenic (dominant) g.92920982G>T - - - NR2F1_000084 - PubMed: Hobbs 2020 - - De novo ? - - 0 - Benjamin Billiet
+?/. - c.256T>C r.(?) p.(Cys86Arg) - likely pathogenic (dominant) g.92920985T>C - - - NR2F1_000067 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
+?/. - c.257G>T r.(?) p.(Cys86Phe) - likely pathogenic (dominant) g.92920986G>T - - - NR2F1_000039 - PubMed: Kaiwar 2017 - - De novo ? - - - - Benjamin Billiet
+?/. - c.262G>A r.(?) p.(Val88Met) - likely pathogenic (dominant) g.92920991G>A - - - NR2F1_000068 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
?/. - 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 - - - 0 - VKGL-NL_Leiden
+?/. - c.284G>T r.(?) p.(Gly95Val) - likely pathogenic (dominant) g.92921013G>T - - - NR2F1_000009 - PubMed: Rech 2020 - - Unknown ? - - - - Benjamin Billiet
+/. - c.286A>G r.(?) p.(Lys96Glu) - pathogenic (dominant) g.92921015A>G - - - NR2F1_000040 - PubMed: Martin-Hernandez 2019 - - De novo ? - - - - Benjamin Billiet
+?/. - 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 - - - 0 - Andreas Laner
+?/. - c.289C>T r.(?) p.(His97Tyr) - likely pathogenic (dominant) g.92921018C>T - - - NR2F1_000029 - - - - De novo - - - - - Benjamin Billiet
+?/. - c.290A>C r.(?) p.(His97Pro) - likely pathogenic (dominant) g.92921019A>C - - - NR2F1_000069 - PubMed: Rech 2020 - - Unknown ? - - - - Benjamin Billiet
+?/. - c.291del r.(?) p.(Tyr98Thrfs*21) - likely pathogenic (dominant) g.92921020del - 291delC (His79Hisfs*22) - NR2F1_000055 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+?/. - c.292T>C r.(?) p.(Tyr98His) - likely pathogenic (dominant) g.92921021T>C - - - NR2F1_000056 - PubMed: Bertacchi 2020 - - De novo ? - - - - Benjamin Billiet
+?/. - c.293A>G r.(?) p.(Tyr98Cys) - likely pathogenic (dominant) g.92921022A>G - - - NR2F1_000070 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
+?/. - c.311A>G r.(?) p.(Glu104Gly) - likely pathogenic (dominant) g.92921040A>G - - - NR2F1_000071 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
+/. - c.313G>A r.(?) p.(Gly105Ser) - likely pathogenic (dominant) g.92921042G>A - - - NR2F1_000034 - PubMed: Mio 2020 - - De novo yes - - 0 - Benjamin Billiet
+?/. - c.313G>A r.(?) p.(Gly105Ser) - likely pathogenic (dominant) g.92921042G>A - - - NR2F1_000034 - PubMed: Mio 2020 - - De novo yes - - - - Benjamin Billiet
+/. - c.314G>A r.(?) p.(Gly105Asp) - pathogenic g.92921043G>A g.93585337G>A - - NR2F1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.314G>A r.(?) p.(Gly105Asp) - pathogenic (dominant) g.92921043G>A - - - NR2F1_000017 - PubMed: Vissers 2017 - - De novo - - - 0 - Marc Ferre
+/. - c.319A>G r.(?) p.(Lys107Glu) - pathogenic (dominant) g.92921048A>G - - - NR2F1_000035 - PubMed: Starosta 2020 - - De novo ? - - - - Benjamin Billiet
?/. - 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
+?/. - c.323G>A r.(?) p.(Ser108Asn) - likely pathogenic (dominant) g.92921052G>A - - - NR2F1_000080 - - - - Germline yes - - - - Benjamin Billiet
+?/. - c.323G>A r.(?) p.(Ser108Asn) - likely pathogenic (dominant) g.92921052G>A - - - NR2F1_000080 - - - - Unknown yes - - - - Benjamin Billiet
?/. - c.323G>C r.(?) p.(Ser108Thr) - VUS g.92921052G>C - NR2F1(NM_005654.6):c.323G>C (p.S108T) - NR2F1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.323G>T r.(?) p.(Ser108Ile) - likely pathogenic (dominant) g.92921052G>T - - - NR2F1_000072 - PubMed: Rech 2020 - - Unknown ? - - - - Benjamin Billiet
+?/. - c.328_330del r.(?) p.(Phe110del) - likely pathogenic (dominant) g.92921057_92921059del - - - NR2F1_000057 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+?/. - c.328_330del r.(?) p.(Phe110del) - likely pathogenic (dominant) g.92921057_92921059del - - - NR2F1_000057 - PubMed: Dimassi 2016 - - De novo ? - - - - Benjamin Billiet
+/. 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 - - - 0 - Marc Ferre
+/. 1 c.339C>A r.(?) p.(Ser113Arg) - pathogenic (dominant) g.92921068C>A g.93585362C>A - - NR2F1_000001 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0002, PubMed: Bosch 2016, Journal: Bosch 2016 - rs587777275 De novo - - - 0 - Danielle Bosch
+/. - c.339C>A r.(?) p.(Ser113Arg) - pathogenic g.92921068C>A g.93585362C>A - - NR2F1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 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 - - - 0 - Danielle Bosch
+?/. - c.365G>C r.(?) p.(Cys122Ser) - likely pathogenic (dominant) g.92921094G>C - - - NR2F1_000073 - PubMed: Rech 2020 - - Unknown ? - - 0 - Benjamin Billiet
+?/. - c.366C>G r.(?) p.(Cys122Trp) - likely pathogenic (dominant) g.92921095C>G - - - NR2F1_000086 - PubMed: Balciuniene 2019 - - Unknown ? - - 0 - Benjamin Billiet
+?/. - c.368G>T r.(?) p.(Arg123Leu) - likely pathogenic (dominant) g.92921097G>T - - - NR2F1_000093 - - - - Germline/De novo (untested) - - - 0 - Marc Ferre
+?/. - c.380dup r.(?) p.(Asn127Lysfs*270) - likely pathogenic (dominant) g.92921109dup - - - NR2F1_000074 - PubMed: Rech 2020 - - Unknown ? - - 0 - Benjamin Billiet
+?/. - c.382T>C r.(?) p.(Cys128Arg) - likely pathogenic (dominant) g.92921111T>C - - - NR2F1_000041 - PubMed: Chen 2016 - - De novo ? - - - - Benjamin Billiet
+?/. - c.403C>A r.(?) p.(Arg135Ser) - likely pathogenic (dominant) g.92921132C>A - - - NR2F1_000075 - PubMed: Chen 2016 - - De novo ? - - - - Benjamin Billiet
+?/. - c.403C>T r.(?) p.(Arg135Cys) - likely pathogenic g.92921132C>T g.93585426C>T - - NR2F1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.403C>T r.(?) p.(Arg135Cys) - likely pathogenic (dominant) g.92921132C>T - - - NR2F1_000018 - PubMed: Hino-Fukuyo 2017 - - De novo ? - - - - Benjamin Billiet
+/. 1 c.413G>A r.(?) p.(Cys138Tyr) - pathogenic (dominant) g.92921142G>A g.93585436G>A - - NR2F1_000007 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.413G>A r.(?) p.(Cys138Tyr) - likely pathogenic (dominant) g.92921142G>A - - - NR2F1_000007 - PubMed: Chen 2016 - - De novo ? - - - - Benjamin Billiet
+?/. - c.417A>T r.(?) p.(Gln139His) - likely pathogenic (dominant) g.92921146A>T - - - NR2F1_000076 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
+?/. - c.425G>A r.(?) p.(Arg142His) - likely pathogenic (dominant) g.92921154G>A - - - NR2F1_000059 - PubMed: Bertacchi 2020 - - De novo ? - - - - Benjamin Billiet
+?/. - c.425G>T r.(?) p.(Arg142Leu) - likely pathogenic g.92921154G>T - - - NR2F1_000058 - PubMed: Chen 2016 - - De novo ? - - 0 - Benjamin Billiet
+?/. - c.436T>C r.(?) p.(Cys146Arg) - likely pathogenic g.92921165T>C g.93585459T>C NR2F1(NM_005654.6):c.436T>C (p.C146R) - NR2F1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.436T>C r.(?) p.(Cys146Arg) - likely pathogenic (dominant) g.92921165T>C - - - NR2F1_000010 - PubMed: Chen 2016 - - De novo ? - - - - Benjamin Billiet
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/. - 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
+?/. - c.463G>A r.(?) p.(Ala155Thr) - likely pathogenic (dominant) g.92921192G>A - - - NR2F1_000024 - PubMed: Chen 2016 - - De novo ? - - - - Benjamin Billiet
+/. - c.513C>A r.(?) p.(Tyr171*) - pathogenic g.92923672C>A - NR2F1(NM_005654.5):c.513C>A (p.Y171*) - NR2F1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.513C>G r.(?) p.(Tyr171*) - likely pathogenic (dominant) g.92923672C>G - - - NR2F1_000038 - PubMed: Park 2019 - - De novo ? - - - - Benjamin Billiet
+/. - c.535dup r.(?) p.(Leu179Profs*218) - pathogenic g.92923694dup - NR2F1(NM_005654.5):c.535dupC (p.L179Pfs*218) - NR2F1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.581G>T r.(?) p.(Arg194Leu) - VUS g.92923740G>T - NR2F1(NM_005654.6):c.581G>T (p.R194L) - NR2F1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.602C>A r.(?) p.(Ser201*) - pathogenic (dominant) g.92923761C>A - - - NR2F1_000085 - PubMed: Zou 2020 - - De novo - - - - - Benjamin Billiet
+/. - 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
-?/. - 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
+?/. - c.729_730delinsCT r.(?) p.(Gln244*) - likely pathogenic (dominant) g.92923888_92923889delinsCT - - - NR2F1_000060 - PubMed: Bertacchi 2020 - - De novo ? - - - - Benjamin Billiet
+/. 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 - - - 0 - Marc Ferre
+/. 2 c.854C>A r.(?) p.(Ser285*) - pathogenic (dominant) g.92924013C>A - - - NR2F1_000090 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
?/. - c.883T>C r.(?) p.(Phe295Leu) - VUS g.92924042T>C - - - NR2F1_000081 - - - - Unknown - - - 0 - Benjamin Billiet
?/. 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 - - 0 - Johan den Dunnen
+?/. - c.931G>C r.(?) p.(Ala311Pro) - likely pathogenic (dominant) g.92924090G>C - - - NR2F1_000077 - PubMed: Rech 2020 - - Unknown ? - - - - Benjamin Billiet
+/. - c.954G>C r.(?) p.(Glu318Asp) - pathogenic g.92924113G>C g.93588407G>C - - NR2F1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.954G>C r.(?) p.(Glu318Asp) - likely pathogenic (dominant) g.92924113G>C - - - NR2F1_000019 - PubMed: Rech 2020 - - De novo ? - - - - Benjamin Billiet
+?/. 2 c.965T>A r.(?) p.(Leu322His) - likely pathogenic (dominant) g.92924124T>A - - - NR2F1_000091 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
+?/. - c.968A>C r.(?) p.(Lys323Thr) - likely pathogenic g.92924127A>C g.93588421A>C - - NR2F1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.968_969del r.(?) p.(Lys323Serfs*73) - likely pathogenic (dominant) g.92924127_92924128del - 967_968delAA - NR2F1_000061 - PubMed: Bertacchi 2020 - - De novo ? - - 0 - Benjamin Billiet
-/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - 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 - - - 0 - VKGL-NL_AMC
+?/. - c.1024G>A r.(?) p.(Glu342Lys) - likely pathogenic (dominant) g.92929300G>A - - - NR2F1_000082 - - - - De novo - - - - - Benjamin Billiet
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