Full data view for gene NR2F1

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

207 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.(?_-1)_(*240_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92920729)_(92929788_?)del g.(?_93585023)_(93594082_?)del whole gene deletion - NR2F1_000124 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(?_-1)_(*240_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92920729)_(92929788_?)del g.(?_93585023)_(93594082_?)del whole gene deletion - NR2F1_000124 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(?_-1)_(*240_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92920729)_(92929788_?)del g.(?_93585023)_(93594082_?)del whole gene deletion - NR2F1_000124 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(?_-1)_(*240_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92920729)_(92929788_?)del g.(?_93585023)_(93594082_?)del whole gene deletion - NR2F1_000124 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(?_-1)_(*240_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92920729)_(92929788_?)del g.(?_93585023)_(93594082_?)del whole gene deletion - NR2F1_000124 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(?_-1)_(*240_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92920729)_(92929788_?)del g.(?_93585023)_(93594082_?)del whole gene deletion - NR2F1_000124 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.-1687_*240{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_92914091)_(93513068_?)del - 92,914,091-93,513,068del - NR2F1_000006 599kb deletion incl. NR2F1, FAM172A, partial NR2F1-AS1, last exon KIAA0825 PubMed: Jurkute 2021 - - De novo - - - - - DNA arrayCGH - - NDD NR2F1_22 PubMed: Jurkute 2021 - F - United States - - - - - 1 Johan den Dunnen
+/. - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic ID 25 PubMed: Rech 2020 - M ? - - - - - - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic ID 26 PubMed: Rech 2020 - M ? - - - - - - 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 - - - - - DNA arraySNP - - CVI Individual 4 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y - - - 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 - - - - DNA arraySNP - - CVI Individual 5 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >04y - - - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 16 PubMed: Chen 2016 - F ? - - - - - - 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 - - - - DNA SEQ-NG - - neuropathy, optic Individual 17 PubMed: Chen 2016 - M ? - - - - - - 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 - - - - DNA SEQ-NG - - neuropathy, optic Individual 18 PubMed: Chen 2016 - M no - - - - - - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 19 PubMed: Chen 2016 - M ? - - - - - - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Al-Kateb 2013 - M ? - - - - - - 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 ? - - - - DNA SEQ-NG - - BBSOAS DGAP169 PubMed: Brown 2009 - F - - - - - - - 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 ? - - - - DNA SEQ-NG - - BBSOAS Individual 20 PubMed: Chen 2016 - F ? - - - - - - 1 Benjamin Billiet
+/. - c.1A>G r.0 p.0 Unknown - pathogenic (dominant) g.92920730A>G - - - NR2F1_000065 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - BBSOAS ID 33 PubMed: Rech 2020 - M ? - - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 14 PubMed: Chen 2016 - F ? - - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Jurkute 2021 - - De novo ? - - - - 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 ? - - - - DNA SEQ-NG - - BBSOAS Individual 13 PubMed: Chen 2016 - F ? - - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.0 p.0 Unknown - pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID 34 PubMed: Rech 2020 - M ? - - - - - - 1 Benjamin Billiet
+/. - c.2T>C r.(?) p.? Unknown - pathogenic g.92920731T>C - NR2F1(NM_005654.4):c.2T>C (p.(Met1?)) - NR2F1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.92920731T>C g.93585025T>C (Met1Thr) - NR2F1_000048 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.92920731T>C g.93585025T>C (Met1Thr) - NR2F1_000048 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.92920731T>C g.93585025T>C (Met1Thr) - NR2F1_000048 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.92920731T>C g.93585025T>C (Met1Thr) - NR2F1_000048 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.92920731T>C g.93585025T>C (Met1Thr) - NR2F1_000048 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2T>G r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>G - - - NR2F1_000052 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 11 PubMed: Chen 2016 - M ? - - - - - - 1 Benjamin Billiet
+/. - c.2T>G r.0 p.0 Parent #1 - pathogenic (dominant) g.92920731T>G - - - NR2F1_000052 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 12 PubMed: Chen 2016 - F ? - - - - - - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 15 PubMed: Chen 2016 - M ? - - - - - - 1 Benjamin Billiet
+?/. - c.2_6del r.(?) p.(Met1?) Unknown - likely pathogenic (dominant) g.92920731_92920735del g.93585025_93585029del - - NR2F1_000125 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.4del r.(?) p.(Ala2GlnfsTer3) Unknown - pathogenic (dominant) g.92920733del g.93585027del 4delG - NR2F1_000105 - PubMed: Jurkute 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - 6710 gene panel NDD NR2F1_1 PubMed: Jurkute 2021 - F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.48_54del r.(?) p.(Gly17ThrfsTer100) Unknown - likely pathogenic (dominant) g.92920777_92920783del g.93585071_93585077del - - NR2F1_000126 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
?/. - c.49G>C r.(?) p.(Gly17Arg) Unknown - VUS g.92920778G>C g.93585072G>C - - NR2F1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.51_69dup r.(?) p.(Asn24Glyfs*379) Unknown ACMG pathogenic g.92920780_92920798dup g.93585074_93585092dup - - NR2F1_000094 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OPA IR_GH_0103 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.51_69dup r.(?) p.(Asn24GlyfsTer379) Unknown - pathogenic (dominant) g.92920780_92920798dup g.93585074_93585092dup - - NR2F1_000094 - PubMed: Jurkute 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD NR2F1_2 PubMed: Jurkute 2021 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.60del r.(?) p.(Gly21AlafsTer98) Unknown - likely pathogenic (dominant) g.92920789del g.93585083del - - NR2F1_000127 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
?/. - c.73C>G r.(?) p.(Pro25Ala) Unknown - VUS g.92920802C>G g.93585096C>G - - NR2F1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.78_96del r.(?) p.(Gln28AlafsTer85) Unknown - likely pathogenic (dominant) g.92920807_92920825del g.93585101_93585119del - - NR2F1_000033 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
?/. - c.79G>C r.(?) p.(Ala27Pro) Unknown - VUS g.92920808G>C - NR2F1(NM_005654.6):c.79G>C (p.(Ala27Pro)) - NR2F1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.82C>T r.(?) p.(Gln28*) Unknown - likely pathogenic (dominant) g.92920811C>T - - - NR2F1_000037 - PubMed: Bojanek 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Bojanek(2019) - M - United States - - - - - 1 Benjamin Billiet
+?/. 1 c.90_99del r.(?) p.(Arg31AlafsTer85) Parent #1 - likely pathogenic (dominant) g.92920819_92920828del g.93585113_93585122del - - NR2F1_000103 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2612.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.90_108del r.(?) p.(Arg31ProfsTer82) Unknown - likely pathogenic (dominant) g.92920819_92920837del g.93585113_93585131del - - NR2F1_000128 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.91_93dup r.(?) p.(Arg31dup) Unknown ACMG likely pathogenic g.92920820_92920822dup g.93585114_93585116dup - - NR2F1_000100 - - - - Unknown - - - - - DNA SEQ-NG-I - - ? - - - - - - - - - - - 1 Jinu Han
+?/. - c.91_93dup r.(?) p.(Arg31dup) Unknown - likely pathogenic (dominant) g.92920820_92920822dup g.93585114_93585116dup 91_93dupCGC - NR2F1_000100 - PubMed: Jurkute 2021, PubMed: Moon 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 429 gene panel NDD NR2F1_3;Pat58 PubMed: Jurkute 2021, PubMed: Moon 2021 - M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.101_106delinsCCGGCGAGCAGCAGCA r.(?) p.(Gly34AlafsTer366) Unknown - likely pathogenic (dominant) g.92920830_92920835delinsCCGGCGAGCAGCAGCA g.93585124_93585129delinsCCGGCGAGCAGCAGCA - - NR2F1_000129 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.103_113delinsCGCCGCCGC r.(?) p.(Gly35Argfs*361) Parent #1 - likely pathogenic (dominant) g.92920832_92920842delinsCGCCGCCGC - - - NR2F1_000053 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 9 PubMed: Chen 2016 - M ? - - - - - - 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, PubMed: Jurkute 2021 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic P3;NR2F1_4 PubMed: Bertacchi 2020, PubMed: Jurkute 2021 - 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.201_207dup r.(?) p.(Lys70GlyfsTer329) Unknown - likely pathogenic (dominant) g.92920930_92920936dup g.93585224_93585230dup - - NR2F1_000130 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.214C>T r.(?) p.(Gln72Ter) Unknown - likely pathogenic (dominant) g.92920943C>T g.93585237C>T - - NR2F1_000131 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.237G>C r.(?) p.(Gln79His) Unknown - likely benign g.92920966G>C g.93585260G>C NR2F1(NM_005654.6):c.237G>C (p.Q79H) - NR2F1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 ? - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Hobbs 2020 - M - - - - - - - 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 ? - - - - - - 1 Benjamin Billiet
+?/. - c.256T>C r.(?) p.(Cys86Arg) Unknown - likely pathogenic (dominant) g.92920985T>C g.93585279T>C - - NR2F1_000067 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - 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 ? - - - - - - 1 Benjamin Billiet
+?/. - c.257G>T r.(?) p.(Cys86Phe) Unknown - likely pathogenic (dominant) g.92920986G>T g.93585280G>T - - NR2F1_000039 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - 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 ? - - - - - - 1 Benjamin Billiet
+?/. - c.262G>T r.(?) p.(Val88Leu) Unknown - likely pathogenic g.92920991G>T - - - NR2F1_000102 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269G>C r.(?) p.(Gly90Ala) Unknown - VUS g.92920998G>C - NR2F1(NM_005654.6):c.269G>C (p.(Gly90Ala)) - NR2F1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 ? - - - - - - 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.286A>G r.(?) p.(Lys96Glu) Unknown - likely pathogenic (dominant) g.92921015A>G g.93585309A>G - - NR2F1_000040 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - 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 - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 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
+?/. 1 c.289C>T r.(?) p.(His97Tyr) Unknown - likely pathogenic (dominant) g.92921018C>T g.93585312C>T - - NR2F1_000029 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED1691.3 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.289C>T r.(?) p.(His97Tyr) Unknown - likely pathogenic (dominant) g.92921018C>T g.93585312C>T - - NR2F1_000029 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - 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 ? - - - - - - 1 Benjamin Billiet
+?/. - c.290A>C r.(?) p.(His97Pro) Unknown - likely pathogenic (dominant) g.92921019A>C g.93585313A>C - - NR2F1_000069 - PubMed: Jurkute 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD NR2F1_5 PubMed: Jurkute 2021 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.291del r.(?) p.(Tyr98Thrfs*21) Parent #1 - likely pathogenic (dominant) g.92921020del - 291delC (His79Hisfs*22) - NR2F1_000055 - PubMed: Chen 2016 - - De novo ? - - - - 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: Jurkute 2021 - - 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 ? - - - - - - 1 Benjamin Billiet
?/. - c.296G>A r.(?) p.(Gly99Asp) Unknown - VUS g.92921025G>A - NR2F1(NM_005654.6):c.296G>A (p.G99D) - NR2F1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 ? - - - - - - 1 Benjamin Billiet
+?/. - c.311A>G r.(?) p.(Glu104Gly) Unknown - likely pathogenic (dominant) g.92921040A>G g.93585334A>G - - NR2F1_000071 - PubMed: Valentin 2025, Journal: Valentin 2025 - - De novo - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.313G>A r.(?) p.(Gly105Ser) Parent #1 - likely pathogenic (dominant) g.92921042G>A - - - NR2F1_000034 - PubMed: Mio 2020 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Proband 1 PubMed: Mio 2020 - M ? Italy white - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.314G>A r.(?) p.(Gly105Asp) Parent #1 - pathogenic (dominant) g.92921043G>A - - - NR2F1_000017 - PubMed: Vissers 2017 - - De novo - - - - - DNA SEQ-NG - - ? Patient 85 PubMed: Vissers 2017 - F no - - - - - - 1 Marc Ferre
+?/. - c.317G>A r.(?) p.(Cys106Tyr) Unknown - likely pathogenic (dominant) g.92921046G>A g.93585340G>A - - NR2F1_000132 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - 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.319A>G r.(?) p.(Lys107Glu) Unknown - likely pathogenic g.92921048A>G - - - NR2F1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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.320A>G r.(?) p.(Lys107Arg) Unknown - likely pathogenic (dominant) g.92921049A>G g.93585343A>G - - NR2F1_000023 - PubMed: Valentin 2025, Journal: Valentin 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - NDD - PubMed: Valentin 2025, Journal: Valentin 2025 patient - - Germany - - - - - 1 Johan den Dunnen
+?/. - 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 ? - - - - - - 1 Benjamin Billiet
+?/. - c.327C>A r.(?) p.(Phe109Leu) Unknown - likely pathogenic g.92921056C>A - NR2F1(NM_005654.6):c.327C>A (p.(Phe109Leu)) - NR2F1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328_330del r.(?) p.(Phe110del) Parent #1 - likely pathogenic (dominant) g.92921057_92921059del - - - NR2F1_000057 - PubMed: Chen 2016 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 8 PubMed: Chen 2016 - F ? - - - - - - 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 ? - - - - - - 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 - - - - - DNA SEQ - - ? Individual 6 PubMed: Bosch 2014, Journal: Bosch 2014 - F no United States - >35y - - - 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 - - - - - DNA SEQ-NG - - BBSOAS, CVI, ID Individual 2 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - >02y - - - 1 Danielle Bosch
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.