Full data view for gene NR2F1

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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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-506041_*1935315del r.0 p.0 Maternal (confirmed) - pathogenic (dominant) g.92414689_94864863del - chr5:92,414,689-94,864,863 (hg19/GRCh37) - NR2F1_000063 - PubMed: Rech 2020 - - Germline ? - - 0 - DNA SEQ-NG - - neuropathy, optic ID 25 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.-325733_*639854del r.0 p.0 Unknown - pathogenic (dominant) g.92594997_93569402del - chr5:92,594,997-93,569,402 (hg19) - NR2F1_000064 - PubMed: Rech 2020 - - Unknown ? - - 0 - DNA SEQ-NG - - neuropathy, optic ID 26 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - 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 - DNA arraySNP - - CVI Individual 4 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y 0 - - 1 Marc Ferre
+/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_91064110)_(93896378_?)del - 91064110–93896378del - NR2F1_000006 2.85 Mb deletion PubMed: Bosch 2014, Journal: Bosch 2014 - - De novo yes - - 0 - DNA arraySNP - - CVI Individual 5 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >04y 0 - - 1 Marc Ferre
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_92856299)_(93054636_?)del - 92856299_93054636 del - NR2F1_000043 0.2Mb deletion PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 16 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - 92910393_93806933del - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Unknown yes - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 17 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 2 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Paternal (confirmed) - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - - - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Uniparental disomy, paternal allele yes - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 18 PubMed: Chen 2016 - M no ? (unknown) - - - - - 1 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_92878375)_(94046216_?)del - 92878375_94046216del - NR2F1_000045 1.2Mb deletion PubMed: Chen 2016 - - Unknown ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 19 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - 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 - DNA SEQ-NG - - neuropathy, optic - PubMed: Al-Kateb 2013 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Unknown - 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 - DNA SEQ-NG - - BBSOAS DGAP169 PubMed: Brown 2009 - F - ? (unknown) - - 0 - - 1 Benjamin Billiet
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_90566268)_(95580992_?)del - 90566268_95580992del - NR2F1_000062 5Mb deletion PubMed: Chen 2016 - - Unknown ? - - 0 - DNA SEQ-NG - - BBSOAS Individual 20 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.1A>G r.0 p.0 Unknown - pathogenic (dominant) g.92920730A>G - - - NR2F1_000065 - PubMed: Rech 2020 - - De novo ? - - 0 - DNA SEQ-NG - - BBSOAS ID 33 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 14 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Bertacchi 2020 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic P4 PubMed: Bertacchi 2020 - F ? France - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - BBSOAS Individual 13 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Unknown - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Rech 2020 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic ID 34 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.2T>G r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>G - - - NR2F1_000052 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 11 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.2T>G r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>G - - - NR2F1_000052 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 12 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.2_4delinsGGA r.0 p.0 Parent #1 - 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 - DNA SEQ-NG - - neuropathy, optic Individual 15 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
?/. - c.49G>C r.(?) p.(Gly17Arg) Unknown - VUS g.92920778G>C g.93585072G>C - - NR2F1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.51_69dup r.(?) p.(Asn24Glyfs*379) Unknown ACMG pathogenic g.92920780_92920798dup g.93585074_93585092dup - - NR2F1_000094 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - OPA IR_GH_0103 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.73C>G r.(?) p.(Pro25Ala) Unknown - VUS g.92920802C>G g.93585096C>G - - NR2F1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.78_96del r.(?) p.(Gln28Alafs*85) Unknown ACMG likely pathogenic (dominant) g.92920807_92920825del g.93585101_93585119del - - NR2F1_000033 ACMG grading: PVS1,PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+?/. - c.82C>T r.(?) p.(Gln28*) Unknown - likely pathogenic (dominant) g.92920811C>T - - - NR2F1_000037 - PubMed: Bojanek 2019 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic - PubMed: Bojanek(2019) - M - United States - - - - - 1 Benjamin Billiet
+?/. - c.103_113delinsCGCCGCCGC r.(?) p.(Gly35Argfs*361) Parent #1 - likely pathogenic (dominant) g.92920832_92920842delinsCGCCGCCGC - - - NR2F1_000053 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 9 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
?/. - c.107G>C r.(?) p.(Gly36Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.115G>T r.(?) p.(Glu39*) Parent #1 - likely pathogenic (dominant) g.92920844G>T - - - NR2F1_000054 - PubMed: Bertacchi 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic P3 PubMed: Bertacchi 2020 - F ? France - - - - - 1 Benjamin Billiet
+?/. - c.192del r.(?) p.(Gly65Alafs*54) Unknown - likely pathogenic (dominant) g.92920921del - - - NR2F1_000092 - - - - Unknown ? - - - - DNA SEQ-NG - - BBSOAS - - - M ? France - - - - - 1 Benjamin Billiet
-?/. - c.237G>C r.(?) p.(Gln79His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.237G>C r.(?) p.(Gln79His) Maternal (confirmed) - likely pathogenic (dominant) g.92920966G>C - - - NR2F1_000008 - - - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - - - F no France - - - - - 2 Benjamin Billiet
+?/. - c.237G>C r.(?) p.(Gln79His) Unknown - likely pathogenic (dominant) g.92920966G>C - - - NR2F1_000008 - - - - Unknown yes - - - - DNA SEQ-NG - - BBSOAS - - - F no France - - - - - 1 Benjamin Billiet
?/. - c.253G>T r.(?) p.(Glu85*) Unknown - likely pathogenic (dominant) g.92920982G>T - - - NR2F1_000084 - PubMed: Hobbs 2020 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic - PubMed: Hobbs 2020 - M - ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.256T>C r.(?) p.(Cys86Arg) Parent #1 - likely pathogenic (dominant) g.92920985T>C - - - NR2F1_000067 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID 2 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.257G>T r.(?) p.(Cys86Phe) Parent #1 - likely pathogenic (dominant) g.92920986G>T - - - NR2F1_000039 - PubMed: Kaiwar 2017 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Case 1 PubMed: Kaiwar 2017 - M ? ? (unknown) - - 0 - - 1 Benjamin Billiet
+?/. - c.262G>A r.(?) p.(Val88Met) Parent #1 - likely pathogenic (dominant) g.92920991G>A - - - NR2F1_000068 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID3 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
?/. - c.284G>T r.(?) p.(Gly95Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.284G>T r.(?) p.(Gly95Val) Unknown - likely pathogenic (dominant) g.92921013G>T - - - NR2F1_000009 - PubMed: Rech 2020 - - Unknown ? - - - - DNA SEQ-NG - - neuropathy, optic ID4 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.286A>G r.(?) p.(Lys96Glu) Parent #1 - pathogenic (dominant) g.92921015A>G - - - NR2F1_000040 - PubMed: Martin-Hernandez 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Martin-Hernandez 2018 - F no Spain - - - - - 1 Benjamin Billiet
+?/. - c.289C>T r.(?) p.(His97Tyr) Unknown ACMG likely pathogenic (dominant) g.92921018C>T g.93585312C>T - - NR2F1_000029 ACMG grading: PM6,PP3,PS1,PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Andreas Laner
+?/. - c.289C>T r.(?) p.(His97Tyr) Unknown - likely pathogenic (dominant) g.92921018C>T - - - NR2F1_000029 - - - - De novo - - - - - DNA SEQ-NG - - neuropathy, optic - - - M no France - - - - - 1 Benjamin Billiet
+?/. - c.290A>C r.(?) p.(His97Pro) Unknown - likely pathogenic (dominant) g.92921019A>C - - - NR2F1_000069 - PubMed: Rech 2020 - - Unknown ? - - - - DNA SEQ-NG - - neuropathy, optic ID6 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.291del r.(?) p.(Tyr98Thrfs*21) Parent #1 - likely pathogenic (dominant) g.92921020del - 291delC (His79Hisfs*22) - NR2F1_000055 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 10 PubMed: Chen 2016 - M ? - - - - - - 1 Benjamin Billiet
+?/. - c.292T>C r.(?) p.(Tyr98His) Parent #1 - likely pathogenic (dominant) g.92921021T>C - - - NR2F1_000056 - PubMed: Bertacchi 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic P5 PubMed: Bertacchi 2020 - F - France - - - - - 1 Benjamin Billiet
+?/. - c.293A>G r.(?) p.(Tyr98Cys) Unknown - likely pathogenic (dominant) g.92921022A>G - - - NR2F1_000070 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID7 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.311A>G r.(?) p.(Glu104Gly) Unknown - likely pathogenic (dominant) g.92921040A>G - - - NR2F1_000071 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID8 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.313G>A r.(?) p.(Gly105Ser) Parent #1 - likely pathogenic (dominant) g.92921042G>A - - - NR2F1_000034 - PubMed: Mio 2020 - - De novo yes - - 0 - DNA SEQ-NG - - neuropathy, optic Proband 1 PubMed: Mio 2020 - M ? Italy Caucasian - 0 - - 2 Benjamin Billiet
+?/. - c.313G>A r.(?) p.(Gly105Ser) Unknown - likely pathogenic (dominant) g.92921042G>A - - - NR2F1_000034 - PubMed: Mio 2020 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Proband 2 PubMed: Mio 2020 - M ? Italy - - - - - 1 Benjamin Billiet
+/. - c.314G>A r.(?) p.(Gly105Asp) Unknown - pathogenic g.92921043G>A g.93585337G>A - - NR2F1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.314G>A r.(?) p.(Gly105Asp) Parent #1 - pathogenic (dominant) g.92921043G>A - - - NR2F1_000017 - PubMed: Vissers 2017 - - De novo - - - 0 - DNA SEQ-NG - - ? Patient 85 PubMed: Vissers 2017 - F no - - - 0 - - 1 Marc Ferre
+/. - c.319A>G r.(?) p.(Lys107Glu) Unknown - pathogenic (dominant) g.92921048A>G - - - NR2F1_000035 - PubMed: Starosta 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Starosta 2020 - F ? United States - - - - - 1 Benjamin Billiet
?/. - c.320A>G r.(?) p.(Lys107Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323G>A r.(?) p.(Ser108Asn) Maternal (confirmed) - likely pathogenic (dominant) g.92921052G>A - - - NR2F1_000080 - - - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - - - F - France - - - - - 2 Benjamin Billiet
+?/. - c.323G>A r.(?) p.(Ser108Asn) Unknown - likely pathogenic (dominant) g.92921052G>A - - - NR2F1_000080 - - - - Unknown yes - - - - DNA SEQ-NG - - BBSOAS - - - F ? France - - - - - 1 Benjamin Billiet
?/. - c.323G>C r.(?) p.(Ser108Thr) Unknown - VUS g.92921052G>C - NR2F1(NM_005654.6):c.323G>C (p.S108T) - NR2F1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323G>T r.(?) p.(Ser108Ile) Unknown - likely pathogenic (dominant) g.92921052G>T - - - NR2F1_000072 - PubMed: Rech 2020 - - Unknown ? - - - - DNA SEQ-NG - - neuropathy, optic ID 9 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.328_330del r.(?) p.(Phe110del) Parent #1 - likely pathogenic (dominant) g.92921057_92921059del - - - NR2F1_000057 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 8 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.328_330del r.(?) p.(Phe110del) Parent #1 - likely pathogenic (dominant) g.92921057_92921059del - - - NR2F1_000057 - PubMed: Dimassi 2016 - - De novo ? - - - - DNA SEQ-NG - - BBSOAS Patient 12A926 PubMed: Dimassi 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. 1 c.335G>A r.(?) p.(Arg112Lys) Parent #1 - pathogenic (dominant) g.92921064G>A g.93585358G>A - - NR2F1_000004 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0004 - rs587777277 De novo - - - 0 - DNA SEQ - - ? Individual 6 PubMed: Bosch 2014, Journal: Bosch 2014 - F no United States - >35y 0 - - 1 Marc Ferre
+/. 1 c.339C>A r.(?) p.(Ser113Arg) Parent #1 - 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 - DNA SEQ-NG - - BBSOAS, CVI, ID Individual 2 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - >02y 0 - - 1 Danielle Bosch
+/. - c.339C>A r.(?) p.(Ser113Arg) Unknown - pathogenic g.92921068C>A g.93585362C>A - - NR2F1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.344G>C r.(?) p.(Arg115Pro) Parent #1 - pathogenic (dominant) g.92921073G>C g.93585367G>C - - NR2F1_000002 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0001 - - De novo - - - 0 - DNA SEQ-NG - - BBSOAS, CVI, ID Individual 1 / 26350515-Pat13 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - >12y 0 - - 1 Danielle Bosch
+?/. - c.365G>C r.(?) p.(Cys122Ser) Unknown - likely pathogenic (dominant) g.92921094G>C - - - NR2F1_000073 - PubMed: Rech 2020 - - Unknown ? - - 0 - DNA SEQ-NG - - neuropathy, optic ID 15 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.366C>G r.(?) p.(Cys122Trp) Parent #1 - likely pathogenic (dominant) g.92921095C>G - - - NR2F1_000086 - PubMed: Balciuniene 2019 - - Unknown ? - - 0 - DNA SEQ-NG - - BBSOAS - PubMed: Balciuniene 2019 - ? ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.368G>T r.(?) p.(Arg123Leu) Parent #1 - likely pathogenic (dominant) g.92921097G>T - - - NR2F1_000093 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - neuropathy, optic - - - M - (France) - - 0 - - 1 Marc Ferre
+?/. - c.380dup r.(?) p.(Asn127Lysfs*270) Unknown - likely pathogenic (dominant) g.92921109dup - - - NR2F1_000074 - PubMed: Rech 2020 - - Unknown ? - - 0 - DNA SEQ-NG - - neuropathy, optic ID 42 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.382T>C r.(?) p.(Cys128Arg) Parent #1 - likely pathogenic (dominant) g.92921111T>C - - - NR2F1_000041 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 1 PubMed: Chen 2016 - M - ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.403C>A r.(?) p.(Arg135Ser) Parent #1 - likely pathogenic (dominant) g.92921132C>A - - - NR2F1_000075 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - BBSOAS Individual 2 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.403C>T r.(?) p.(Arg135Cys) Unknown - likely pathogenic g.92921132C>T g.93585426C>T - - NR2F1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.403C>T r.(?) p.(Arg135Cys) Parent #1 - likely pathogenic (dominant) g.92921132C>T - - - NR2F1_000018 - PubMed: Hino-Fukuyo 2017 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Hino-Fukuyo 2017 - F no Japan - - - - - 1 Benjamin Billiet
+/. 1 c.413G>A r.(?) p.(Cys138Tyr) Parent #1 - pathogenic (dominant) g.92921142G>A g.93585436G>A - - NR2F1_000007 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? 28327206-PatBH5763_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.413G>A r.(?) p.(Cys138Tyr) Parent #1 - likely pathogenic (dominant) g.92921142G>A - - - NR2F1_000007 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 3 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.417A>T r.(?) p.(Gln139His) Parent #1 - likely pathogenic (dominant) g.92921146A>T - - - NR2F1_000076 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID 20 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.425G>A r.(?) p.(Arg142His) Parent #1 - likely pathogenic (dominant) g.92921154G>A - - - NR2F1_000059 - PubMed: Bertacchi 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic P1 PubMed: Bertacchi 2020 - F ? France - - - - - 1 Benjamin Billiet
+?/. - c.425G>T r.(?) p.(Arg142Leu) Parent #1 - likely pathogenic g.92921154G>T - - - NR2F1_000058 - PubMed: Chen 2016 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic Individual 4 PubMed: Chen 2016 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.436T>C r.(?) p.(Cys146Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.436T>C r.(?) p.(Cys146Arg) Parent #1 - likely pathogenic (dominant) g.92921165T>C - - - NR2F1_000010 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 5 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
?/. - c.452T>C r.(?) p.(Met151Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - likely pathogenic g.92921192G>A g.93585486G>A - - NR2F1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.463G>A r.(?) p.(Ala155Thr) Parent #1 - likely pathogenic (dominant) g.92921192G>A - - - NR2F1_000024 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - BBSOAS Individual 6 PubMed: Chen 2016 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.513C>A r.(?) p.(Tyr171*) Unknown - pathogenic g.92923672C>A - NR2F1(NM_005654.5):c.513C>A (p.Y171*) - NR2F1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.513C>G r.(?) p.(Tyr171*) Unknown - likely pathogenic (dominant) g.92923672C>G - - - NR2F1_000038 - PubMed: Park 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Park 2019 - M ? Korea - - - - - 1 Benjamin Billiet
+/. - c.535dup r.(?) p.(Leu179Profs*218) Unknown - pathogenic g.92923694dup - NR2F1(NM_005654.5):c.535dupC (p.L179Pfs*218) - NR2F1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581G>T r.(?) p.(Arg194Leu) Unknown - VUS g.92923740G>T - NR2F1(NM_005654.6):c.581G>T (p.R194L) - NR2F1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.602C>A r.(?) p.(Ser201*) Parent #1 - pathogenic (dominant) g.92923761C>A - - - NR2F1_000085 - PubMed: Zou 2020 - - De novo - - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Zou 2020 - F no China - - - - - 1 Benjamin Billiet
+/. - c.603_606del r.(?) p.(Arg202Thrfs*154) Unknown - pathogenic g.92923762_92923765del - NR2F1(NM_005654.5):c.603_606delGCGC (p.R202Tfs*154) - NR2F1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Asn236=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.729_730delinsCT r.(?) p.(Gln244*) Unknown - likely pathogenic (dominant) g.92923888_92923889delinsCT - - - NR2F1_000060 - PubMed: Bertacchi 2020 - - De novo ? - - - - DNA SEQ-NG - - BBSOAS P2 PubMed: Bertacchi 2020 - M ? France - - - - - 1 Benjamin Billiet
+/. 2 c.755T>C r.(?) p.(Leu252Pro) Parent #1 - pathogenic (dominant) g.92923914T>C g.93588208T>C - - NR2F1_000003 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0003 - rs587777276 De novo - - - 0 - DNA SEQ - - BBSOAS Individual 3 PubMed: Bosch 2014, Journal: Bosch 2014 - F no - - >18y 0 - - 1 Johan den Dunnen
+/. 2 c.854C>A r.(?) p.(Ser285*) Parent #1 - pathogenic (dominant) g.92924013C>A - - - NR2F1_000090 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG - - neuropathy, optic - - - F - (France) - - 0 - - 1 Marc Ferre
?/. - c.883T>C r.(?) p.(Phe295Leu) Unknown - VUS g.92924042T>C - - - NR2F1_000081 - - - - Unknown - - - 0 - DNA SEQ-NG - - neuropathy, optic - - - M ? France - - - - - 1 Benjamin Billiet
?/. 2 c.909G>C r.(?) p.(Gln303His) Unknown - VUS g.92924068G>C g.93588362G>C - - NR2F1_000005 not associated with disease phneotype PubMed: Bosch 2014, Journal: Bosch 2014 - - Germline no - - 0 - DNA SEQ - - OPA - PubMed: Bosch 2014, Journal: Bosch 2014 Father, unaffected heterozygous carrier sister and son M no - - >68y 0 - - 1 Johan den Dunnen
+?/. - c.931G>C r.(?) p.(Ala311Pro) Unknown - likely pathogenic (dominant) g.92924090G>C - - - NR2F1_000077 - PubMed: Rech 2020 - - Unknown ? - - - - DNA SEQ-NG - - neuropathy, optic ID 49 PubMed: Rech 2020 - F ? ? (unknown) - - - - - 1 Benjamin Billiet
+/. - c.954G>C r.(?) p.(Glu318Asp) Unknown - pathogenic g.92924113G>C g.93588407G>C - - NR2F1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.954G>C r.(?) p.(Glu318Asp) Parent #1 - likely pathogenic (dominant) g.92924113G>C - - - NR2F1_000019 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID 50 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. 2 c.965T>A r.(?) p.(Leu322His) Parent #1 - likely pathogenic (dominant) g.92924124T>A - - - NR2F1_000091 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG - - neuropathy, optic - - - F - (France) - - 0 - - 1 Marc Ferre
+?/. - c.968A>C r.(?) p.(Lys323Thr) Unknown - likely pathogenic g.92924127A>C g.93588421A>C - - NR2F1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.968_969del r.(?) p.(Lys323Serfs*73) Parent #1 - likely pathogenic (dominant) g.92924127_92924128del - 967_968delAA - NR2F1_000061 - PubMed: Bertacchi 2020 - - De novo ? - - 0 - DNA SEQ-NG - - neuropathy, optic P6 PubMed: Bertacchi 2020 - M ? France - - - - - 1 Benjamin Billiet
-/. - c.991+19G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1016C>T r.(?) p.(Ala339Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.1024G>A r.(?) p.(Glu342Lys) Unknown - likely pathogenic (dominant) g.92929300G>A - - - NR2F1_000082 - - - - De novo - - - - - DNA SEQ-NG - - neuropathy, optic - - - F - France - - - - - 1 Benjamin Billiet
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