Full data view for gene NR2F1

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

67 entries on 1 page. Showing entries 1 - 67.
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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     

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Owner     
+?/. - c.-506041_*1935315del r.0? p.0? Maternal (confirmed) - likely 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 - likely 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.(?_-1)_(*1_?)del r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_92845157)_(93679748_?)del - 92845157–93679748del - NR2F1_000006 0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable PubMed: Bosch 2014, Journal: Bosch 2014 - - Unknown - - - 0 - DNA arraySNP - - CVI - PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y 0 - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-1)_(*1_?)del r.0 p.0 Unknown - 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 - PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >04y 0 - - 1 Johan den Dunnen
+?/. _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 2017 - - De novo ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. _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 2017 - - Unknown yes - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. _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 2017 - - Uniparental disomy, paternal allele yes - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. _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 2017 - - Unknown ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_92845157)_(93679748_?)del - - arr 5q15(92845157–93679748)x1 NR2F1_000046 0.83Mb deletion PubMed: Bosch 2014 - - Unknown ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. _1_3_ c.-1687_*240{0} r.0 p.0 Parent #1 - likely pathogenic (dominant) g.(?_91064110)_(93896378_?)del - - arr SNP 5q14.3q15(SNP_A-1810903–SNP_A-1788922)x1 NR2F1_000047 2.85Mb deletion PubMed: Bosch 2014 - - De novo ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. _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 - - - - - - - - - - - - - - - -
+?/. _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 2010 - - De novo ? - - 0 - DNA SEQ-NG - - BBSOAS DGAP169 PubMed: Brown 2010 - F - ? (unknown) - - - - - 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 2017 - - Unknown ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.? p.? Parent #1 - likely pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Bertacchi 2020 - - De novo ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.? p.? Unknown - likely pathogenic (dominant) g.92920731T>C - - - NR2F1_000048 - PubMed: Rech 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic ID 34 PubMed: Rech 2020 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.2_4delinsTGG r.(=) p.(=) Parent #1 - likely pathogenic (dominant) g.92920731_92920733delinsTGG - - - NR2F1_000042 - PubMed: Chen 2017 - - De novo ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
?/. - 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.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 ? - - - - 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 2017 - - De novo ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
?/. - 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.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.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) - - - - - 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.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.291del r.(?) p.(Tyr98Thrfs*21) Parent #1 - likely pathogenic (dominant) g.92921020del - 291delC (His79Hisfs*22) - NR2F1_000055 - PubMed: Chen 2017 - - De novo ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+/. - 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.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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.335G>A r.(?) p.(Arg112Lys) Unknown - pathogenic (dominant) g.92921064G>A g.93585358G>A - - NR2F1_000004 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0004 - rs587777277 De novo - - - 0 - DNA SEQ - - ? - PubMed: Bosch 2014, Journal: Bosch 2014 - F no United States - >35y 0 - - 1 Johan den Dunnen
+/. 1 c.339C>A r.(?) p.(Ser113Arg) Unknown - 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 - 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) Unknown - 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 26350515-Pat13 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - >12y 0 - - 1 Danielle Bosch
+?/. - c.366C>G r.(?) p.(Cys122Trp) Parent #1 - likely pathogenic (dominant) g.92921095C>G - - - NR2F1_000086 - PubMed: Balciuniene 2019 - - Unknown ? - - 0 - DNA SEQ-NG - - - - - - - - - - - - - - - -
+?/. - c.382T>C r.(?) p.(Cys128Arg) Parent #1 - likely pathogenic (dominant) g.92921111T>C - - - NR2F1_000041 - PubMed: Chen 2017 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 1 PubMed: Chen 2017 - M - ? (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 - - - - - - - - - - - - - - - - - - -
+/. 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 2017 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Individual 3 PubMed: Chen 2017 - M ? ? (unknown) - - - - - 1 Benjamin Billiet
+?/. - c.436T>C r.(?) p.(Cys146Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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.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.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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.755T>C r.(?) p.(Leu252Pro) Unknown - 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 - 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
?/. 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, unaffecter heterozygous carrier sister and son M no - - >68y 0 - - 1 Johan den Dunnen
+/. - c.954G>C r.(?) p.(Glu318Asp) Unknown - pathogenic g.92924113G>C g.93588407G>C - - NR2F1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 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 - - - - - - - - - - - - - - - -
-/. - 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.1025A>G r.(?) p.(Glu342Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1096C>T r.(?) p.(Arg366Cys) Unknown - likely pathogenic g.92929372C>T g.93593666C>T - - NR2F1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1117C>T r.(?) p.(Arg373Ter) Unknown - pathogenic g.92929393C>T g.93593687C>T - - NR2F1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1147_1149del r.(?) p.(Ser383del) Unknown - VUS g.92929423_92929425del - NR2F1(NM_005654.5):c.1147_1149delTCC (p.S383del) - NR2F1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1158G>T r.(?) p.(Glu386Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1168_1170del r.(?) p.(Phe390del) Unknown ACMG VUS (!) g.92929444_92929446del - - - NR2F1_000087 ACMG: PM2; PM4; PP3 class 3 - ClinVar-000420405 - Germline ? - - - - DNA SEQ-NG-I - - BBSOAS 172742 - - F - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1183G>T r.(?) p.(Gly395Cys) Unknown - likely pathogenic g.92929459G>T g.93593753G>T - - NR2F1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1184G>A r.(?) p.(Gly395Asp) Unknown - likely pathogenic g.92929460G>A - - - NR2F1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1217T>C r.(?) p.(Met406Thr) Parent #1 - likely pathogenic (dominant) g.92929493T>C - - - NR2F1_000036 - PubMed: Jzela-Stanek - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Patient 6 PubMed: Jezela-Stanek (2020) - M ? ? (unknown) - - - - - 1 Benjamin Billiet
-?/. - c.*9C>T r.(=) p.(=) Unknown - likely benign g.92929557C>T g.93593851C>T NR2F1(NM_005654.5):c.*9C>T - NR2F1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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