Full data view for gene NR0B1

Information The variants shown are described using the NM_000475.4 transcript reference sequence.

237 entries on 3 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.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat57 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat62 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat66 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat69 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Unknown ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat71 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat78 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat82 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat84 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat89 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-15_*157{0} r.0 p.0 Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30327495_?)del g.(?_30304422)_(30309378_?)del -15_*157del - NR0B1_000001 - PubMed: Duan 2023 - - Germline - - - - - DNA arraySNP - - adrenal hyperplasia Pat90 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c1168+1_1169-1_*157{0} r.? p.? Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30322941_30326312)del g.(?_30304422)_(30304824_30308195)del 1169_*157del(Asp390_Ter471delinsGluLysXaa) - NR0B1_000157 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat67 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c1168+1_1169-1_*157{0} r.? p.? Maternal (confirmed) ACMG pathogenic g.(?_30322539)_(30322941_30326312)del g.(?_30304422)_(30304824_30308195)del 1170_*157del(Asp390_Ter471delinsGluLysXaa) - NR0B1_000157 - PubMed: Duan 2023 - - Germline - - - - - DNA PCRq - - adrenal hyperplasia Pat75 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. _1_2_ c.(-1420267_-1376583)_(*6408628_?)dup r.? p.? Maternal (confirmed) - pathogenic g.(?_23914068)_(31704063_31747747)dup g.(?_23895951)_(31685946_31729630)dup 23895951_31685946del - DMD_069070 7.79 Mb duplication encompassing 30 protein-coding genes, including DMD (ex53-79), NR0B1 PubMed: Zheng 2024 - - Germline - - - - - DNA arrayCGH, SEQ-NG - - DSD patient PubMed: Zheng 2024 2-generation family, 1 affected, unaffected carrier mother rM - China - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic g.(28315338_28315338)_(30327481_30671654)del - - - NR0B1_000115 - PubMed: Carrie 1999 - - Unknown - - - - - DNA PCR - - AHC, MRT - PubMed: Carrie 1999 - M - - - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic g.(28606165_28771534)_(30746860_31140035)del - - - NR0B1_000112 - PubMed: Carrie 1999 - - Unknown - - - - - DNA PCR - - AHC, GKD, ID - PubMed: Carrie 1999 - M - - - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic g.(28807543_29155309)_(30327481_30671654)del - - - NR0B1_000113 - PubMed: Carrie 1999 - - Unknown - - - - - DNA PCR - - AHC, ID - PubMed: Carrie 1999 - M - - - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic g.(29686622_29935580)_(30327481_30671654)del - - - NR0B1_000114 - PubMed: Carrie 1999 - - Unknown - - - - - DNA PCR - - AHC, ID - PubMed: Carrie 1999 - M - - - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004 - M - - - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(25034000_28807460)_(31645980_31676106)del - - - DMD_040078 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Parent #1 - pathogenic g.(?_30322695)_(30746860_?)del - - - NR0B1_000002 large deletion, incl. GKD gene PubMed: Guo 1995 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Guo 1995 - - - - - - - - - 1 Bert Bakker
+/. _1_2_ c.-15_*157{0} r.0 p.0 Parent #1 - pathogenic g.(?_30322695)_(30327481_?)del - - - NR0B1_000001 - PubMed: Guo 1995 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Guo 1995 - - - - - - - - - 1 Bert Bakker
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic g.(30256800_30322695)_(30327481_?)del - - - NR0B1_000031 deletion does not include DXS319 PubMed: Kinoshita 1997 - - Germline/De novo (untested) - - - - - DNA SEQ - - AHC 09195207-Pat3 PubMed: Kinoshita 1997 - M - Japan - - - - - 1 Bert Bakker
+/. _1_2_ c.-15_*157{0} r.0 p.0 Parent #1 - pathogenic g.(?_30322695)_(30327481_?)del - - - NR0B1_000001 - PubMed: Kinoshita 1997 - - Germline/De novo (untested) - - - - - DNA SEQ - - AHC 09195207-Pat4 PubMed: Kinoshita 1997 - M - Japan - - - - - 1 Bert Bakker
?/. _1_2_ c.-15_*157{2} r.? p.? Maternal (confirmed) - VUS g.(29488607_30275904)_(30353407_30358281)dup - hg18 :g.(29398528_30185825)_(30263328_30268202)dup - NR0B1_000116 - PubMed: Oshima 2009 - - Germline - - - - - DNA arrayCGH, MLPA - - - 19449031-PatCo2 PubMed: Oshima 2009 family, carrier mother, fetus M - United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(25040000_28600000)_(33229673_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(25040000_28600000)_(33229673_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(28606165_29935580)_(33229673_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(30000000_30322000)_(33229673_?)del - - - DMD_040081 deletion incl. NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_25020000)_(32235181_32305645)del - - - DMD_003417 deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown - - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_31137345)_(31893491_31947712)del g.(?_31119228)_(31875374_31929595)del - - DMD_054880 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Parent #1 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MRX;IDX - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/+ _1_2_ c.-15_*157{0} r.0 p.0 Parent #1 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline yes - - - - DNA MLPA - - AHC, GKD, MRX;IDX - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_31137345)_(32867938_33038255)del g.(?_31119228)_(32849821_33020138)del - - DMD_050380 - PubMed: Loke 2009, PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA PCR - - AHC, DMD, GKD patient/Case 45 PubMed: Loke 2009, PubMed: Tomar 2019 - M no Singapore - - - - - 1 Poh San Lai
+/. _1_2_ c.-15_*157{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(29686622_29935580)_(31366752_31462597)del g.(29668505_29917463)_(31348635_31444480)del - - DMD_066680 deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD PubMed: Korkut 2016 - - Germline - - - - - DNA arrayCGH - - ? Case1 PubMed: Korkut 2016 - M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(28200000_28500000)_(31986632_32235032)del g.(28180000_28480000)_(31968515_32216915)del - - DMD_066681 3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD PubMed: Korkut 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? case2 PubMed: Korkut 2016 - M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(25400000_25878399)_(31987991_32000000)del - hg19 25878399_31987991del - DMD_066683 6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD PubMed: Heide 2015 - - De novo - - - - X-inactivation CpG island 5' CAG repeat AR gene 59%:41% DNA arrayCNV - Illumina CytoSNP12 microarray ID Pat1 PubMed: Heide 2015 - F - France - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Unknown - pathogenic (recessive) g.(28900000_29008175)_(31496701_31600000)del - hg19 29008175–31496701del - DMD_066684 2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD - - - Germline/De novo (untested) - - - - X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37 DNA arrayCNV - Illumina CytoSNP12 microarray ID Pat2 PubMed: Heide 2015 - F - France - - - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_30322539)_(33357494_?)del g.(?_30304422)_(33339377_?)del - - DMD_010080 deletion incl. GK, NR0B1 and DMD gene PubMed: Tao 2022 - - Germline - - - - - DNA PCR - - DD patient PubMed: Tao 2022 2-generation family, 1 affected, unaffected carrier mother M - China - 01y09m - - - 1 Johan den Dunnen
+/. _1_2_ c.-15_*157{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_29296579)_(33551038_?)del g.(?_29278462)_(33532921_?)del del 29296579–33551038 (build not mentioned) - DMD_000533 4.2 Mb deletion of Xp21.3p21.1 incl. GK, DMD, and NR0B1 genes, and multiple exons of IL1RAPL1 PubMed: Fu 2024 - - Germline - - - - - DNA arraySNP - - ? patient PubMed: Fu 2024 2-generation family, affected mother/daughter/son M - United States - - - - - 3 Johan den Dunnen
-?/. - c.16C>A r.(?) p.(His6Asn) Unknown - likely benign g.30327465G>T g.30309348G>T NR0B1(NM_000475.4):c.16C>A (p.(His6Asn)) - NR0B1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.109C>T r.(?) p.(Gln37*) Parent #1 - pathogenic g.30327372G>A g.30309255G>A - - NR0B1_000090 - PubMed: Ozisik 2003 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Ozisik 2003 - - - - - - - - - 1 Bert Bakker
?/. 1 c.114C>T r.(?) p.(=) Maternal (inferred) - VUS g.30327367G>A g.30309250G>A - - NR0B1_000110 recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - rs6150 Germline - 34/208 - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - - - - 34 Johan den Dunnen
-/. - c.114C>T r.(?) p.(Cys38=) Unknown - benign g.30327367G>A g.30309250G>A NR0B1(NM_000475.5):c.114C>T (p.C38=) - NR0B1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.116G>A r.(?) p.(Trp39*) Parent #1 - pathogenic g.30327365C>T g.30309248C>T - - NR0B1_000068 - PubMed: Binder 2000 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Binder 2000 - - - - - - - - - 1 Bert Bakker
?/. - c.116G>C r.(?) p.(Trp39Ser) Unknown - VUS g.30327365C>G - NR0B1(NM_000475.4):c.116G>C (p.(Trp39Ser)) - NR0B1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.119del r.(?) p.(Gly40AlafsTer45) Parent #1 - pathogenic g.30327365del g.30309248del - - NR0B1_000022 - PubMed: Meloni 1996 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Meloni 1996 - - - - - - - - - 1 Bert Bakker
+/. 1 c.129C>A r.(?) p.(Cys43*) Parent #1 - pathogenic g.30327352G>T g.30309235G>T - - NR0B1_000101 - - - - Germline - - - - - DNA SEQ - - AHC - - - M - Netherlands - - - - - 1 Bert Bakker
+/. 1 c.145del r.(?) p.(Val49TrpfsTer36) Parent #1 - pathogenic g.30327339del g.30309222del - - NR0B1_000037 - PubMed: Hamaguchi 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Hamaguchi 1998 - - - - - - - - - 1 Bert Bakker
+/. 1 c.155_156del r.(?) p.fs* Parent #1 - pathogenic g.30327329_30327330del g.30309212_30309213del - - NR0B1_000035 - PubMed: Nakae 1997; OMIM:var0015 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Nakae 1997; OMIM:var0015 - - - - - - - - - 1 Bert Bakker
-?/. - c.174G>A r.(?) p.(Arg58=) Unknown - likely benign g.30327307C>T g.30309190C>T NR0B1(NM_000475.4):c.174G>A (p.R58=) - NR0B1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.243C>G r.(?) p.(Tyr81*) Parent #1 - pathogenic g.30327238G>C g.30309121G>C - - NR0B1_000082 - PubMed: Zhang 2001 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 2001 - - - - - - - - - 1 Bert Bakker
+/. - c.252_255delinsAC r.(?) p.(Thr85Glnfs*27) Unknown ACMG pathogenic g.30327226_30327229delinsGT g.30309109_30309112delinsGT - - NR0B1_000154 - - - - Germline - - - - - DNA SEQ blood - AHC E1330 - - M no China - - - - - 1 Wenjuan Qiu
+/. - c.252_255delinsAC r.(?) p.(Thr85GlnfsTer27) Maternal (confirmed) ACMG pathogenic g.30327226_30327229delinsGT g.30309109_30309112delinsGT 252_255delinsAC - NR0B1_000154 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat83 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. 1 c.273C>A r.(?) p.(Tyr91*) Parent #1 - pathogenic g.30327208G>T g.30309091G>T - - NR0B1_000023 - PubMed: Nakae 1996; OMIM:var0011 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Nakae 1996; OMIM:var0011 2 sibs M - Japan - - - - - 1 Bert Bakker
+/. 1 c.273_274delinsT r.(?) p.fs* Parent #1 - pathogenic g.30327207_30327208delinsA g.30309090_30309091delinsA - - NR0B1_000007 - PubMed: Muscatelli 1994 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Muscatelli 1994 - - - - - - - - - 1 Bert Bakker
+/. - c.291del r.(?) p.(Glu98ArgfsTer166) Maternal (confirmed) ACMG pathogenic g.30327192del g.30309075del - - NR0B1_000164 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat58 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.297del r.(?) p.(Thr100Argfs*164) Unknown ACMG pathogenic g.30327184del g.30309067del - - NR0B1_000153 - - - - Germline - - - - - DNA SEQ blood - AHC Q60 - - M no China - - - - - 1 Wenjuan Qiu
+/. - c.297del r.(?) p.(Thr100ArgfsTer164) Maternal (confirmed) ACMG pathogenic g.30327184del g.30309067del - - NR0B1_000153 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat86 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.315G>T r.(?) p.(Trp105Cys) Unknown - pathogenic g.30327166C>A g.30309049C>A NR0B1(NM_000475.5):c.315G>T (p.W105C) - NR0B1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.315_316insT r.(?) p.fs* Parent #1 - pathogenic g.30327165_30327166insA g.30309048_30309049insA - - NR0B1_000008 - PubMed: Muscatelli 1994 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Muscatelli 1994 - - - - - - - - - 1 Bert Bakker
+/. - c.323C>A r.(?) p.(Ser108Ter) Unknown - pathogenic g.30327158G>T g.30309041G>T - - NR0B1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.323C>A r.(?) p.(Ser108*) Unknown - pathogenic g.30327158G>T - - - NR0B1_000132 - - - - De novo - - - - - DNA SEQ blood - AHC E256 - - M no China - - - - - 1 Wenjuan Qiu
+/. - c.323C>A r.(?) p.(Ser108Ter) Unknown ACMG pathogenic g.30327158G>T g.30309041G>T - - NR0B1_000132 - PubMed: Duan 2023 - - De novo - - - - - DNA SEQ-NG - WES adrenal hyperplasia Pat61 PubMed: Duan 2023 patient - - China - - - - - 1 Johan den Dunnen
+/. 1 c.327C>A r.(?) p.(Cys109*) Parent #1 - pathogenic g.30327154G>T g.30309037G>T - - NR0B1_000076 - PubMed: Phelan 2001 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Phelan 2001 - - - - - - - - - 1 Bert Bakker
+?/. - c.332_333dup r.(?) p.(Asp112Leufs*153) Maternal (confirmed) ACMG likely pathogenic g.30327150_30327151dup g.30309033_30309034dup 332_333dupCT - NR0B1_000152 - - - - Germline - - - - - DNA SEQ blood - AHC E1530 - - M no China - - - - - 1 Wenjuan Qiu
-?/. - c.339C>A r.(?) p.(Pro113=) Unknown - likely benign g.30327142G>T g.30309025G>T NR0B1(NM_000475.4):c.339C>A (p.P113=) - NR0B1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.343del r.(?) p.(Val115TrpfsTer149) Parent #1 - pathogenic g.30327141del g.30309024del - - NR0B1_000083 - PubMed: Zhang 2001 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 2001 - - - - - - - - - 1 Bert Bakker
+/. 1 c.373_376dup r.(?) p.fs* Parent #1 - pathogenic g.30327106_30327109dup g.30308989_30308992dup - - NR0B1_000042 - PubMed: Zhang 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 1998 - - - - - - - - - 1 Bert Bakker
?/. 1 c.376G>A r.(?) p.(Val126Met) Maternal (confirmed) - VUS g.30327105C>T g.30308988C>T - - NR0B1_000032 - PubMed: Kinoshita 1997 - - Germline yes - - - - DNA SEQ - - AHC 09195207-Fam1Pat1 PubMed: Kinoshita 1997 3-generation fmily, 6 affecteds (6M), 2 unaffected heterozygous carrier females M - Japan - - - - - 6 Bert Bakker
-/. - c.376G>A r.(?) p.(Val126Met) Unknown - benign g.30327105C>T g.30308988C>T NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met)) - NR0B1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Val126Met) Unknown - likely benign g.30327105C>T g.30308988C>T NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met)) - NR0B1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Val126Met) Unknown - likely benign g.30327105C>T g.30308988C>T - - NR0B1_000032 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.044 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.390C>A r.(?) p.(Tyr130*) Parent #1 - pathogenic g.30327091G>T g.30308974G>T - - NR0B1_000053 - PubMed: Peter 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Peter 1998 - - - - - - - - - 1 Bert Bakker
+/. 1 c.395dup r.(?) p.(Cys132TrpfsTer6) Parent #1 - pathogenic g.30327086dup g.30308969dup - - NR0B1_000075 - PubMed: Domenice 2001 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Domenice 2001 - - - - - - - - - 1 Bert Bakker
+/. 1 c.404del r.(?) p.(Cys135Leufs*129) Parent #1 - pathogenic g.30327077del g.30308960del - - NR0B1_000102 - - - - Germline - - - - - DNA SEQ - - AHC - - - M - Netherlands - - - - - 1 Bert Bakker
+/. 1 c.405del r.(?) p.(Cys135TrpfsTer129) Parent #1 - pathogenic g.30327076del g.30308959del - - NR0B1_000058 - PubMed: Reutens 1999 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Reutens 1999 - - - - - - - - - 1 Bert Bakker
+/. 1 c.416dup r.(?) p.(His139GlnfsTer14) Parent #1 - pathogenic g.30327065dup g.30308948dup - - NR0B1_000043 - PubMed: Zhang 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 1998 - - - - - - - - - 1 Bert Bakker
+/. 1 c.423del r.(?) p.(Gln142ArgfsTer122) Parent #1 - pathogenic g.30327059del g.30308942del - - NR0B1_000069 - PubMed: Binder 2000 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Binder 2000 - - - - - - - - - 1 Bert Bakker
+/. 1 c.441C>G r.(?) p.(Tyr147*) Parent #1 - pathogenic g.30327040G>C g.30308923G>C - - NR0B1_000077 - PubMed: Phelan 2001 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Phelan 2001 - - - - - - - - - 1 Bert Bakker
+/. 1 c.457del r.(?) p.(Ser153GlnfsTer111) Parent #1 - pathogenic g.30327024del g.30308907del - - NR0B1_000084 - PubMed: Zhang 2001 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 2001 - - - - - - - - - 1 Bert Bakker
+/. 1 c.458C>G r.(?) p.(Ser153*) Parent #1 - pathogenic g.30327023G>C g.30308906G>C - - NR0B1_000044 - PubMed: Zhang 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 1998 - - - - - - - - - 1 Bert Bakker
?/. - c.469C>T r.(?) p.(His157Tyr) Unknown - VUS g.30327012G>A - NR0B1(NM_000475.4):c.469C>T (p.H157Y) - NR0B1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.477del r.(?) p.(Pro160ArgfsTer104) Parent #1 - pathogenic g.30327004del g.30308887del - - NR0B1_000054 - PubMed: Peter 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Peter 1998 - - - - - - - - - 1 Bert Bakker
+/. 1 c.495_496dup r.(?) p.fs* Parent #1 - pathogenic g.30326986_30326987dup g.30308869_30308870dup - - NR0B1_000070 - PubMed: Binder 2000 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Binder 2000 - - - - - - - - - 1 Bert Bakker
-?/. - c.497G>T r.(?) p.(Arg166Leu) Unknown - likely benign g.30326984C>A - NR0B1(NM_000475.4):c.497G>T (p.R166L) - NR0B1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.498G>A r.(?) p.(=) Maternal (inferred) - pathogenic g.30326983C>T g.30308866C>T - - NR0B1_000096 recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - rs2269345 Germline - 28/208 - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - - - - 28 Johan den Dunnen
-/. - c.498G>A r.(?) p.(Arg166=) Unknown - benign g.30326983C>T g.30308866C>T NR0B1(NM_000475.5):c.498G>A (p.R166=) - NR0B1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498G>A r.(?) p.(Arg166=) Unknown - benign g.30326983C>T g.30308866C>T NR0B1(NM_000475.5):c.498G>A (p.R166=) - NR0B1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.501del r.(?) p.(Gly169AlafsTer95) Parent #1 - pathogenic g.30326980del g.30308863del - - NR0B1_000045 - PubMed: Zhang 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 1998 - - - - - - - - - 1 Bert Bakker
+/. - c.501del r.(?) p.(Gly169AlafsTer95) Maternal (confirmed) ACMG pathogenic g.30326980del g.30308863del - - NR0B1_000045 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat92a PubMed: Duan 2023 family, 2 affected - - China - - - - - 2 Johan den Dunnen
+/. - c.501del r.(?) p.(Gly169AlafsTer95) Maternal (confirmed) ACMG pathogenic g.30326980del g.30308863del - - NR0B1_000045 - PubMed: Duan 2023 - - Germline - - - - - DNA PCR, SEQ - - adrenal hyperplasia Pat92b PubMed: Duan 2023 relative - - China - - - - - 1 Johan den Dunnen
+/. 1 c.512G>A r.(?) p.(Trp171*) Parent #1 - pathogenic g.30326969C>T g.30308852C>T - - NR0B1_000059 - PubMed: Reutens 1999 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Reutens 1999 - - - - - - - - - 1 Bert Bakker
+/. 1 c.513G>A r.(?) p.(Trp171*) Parent #1 - pathogenic g.30326968C>T g.30308851C>T - - NR0B1_000017 - PubMed: Zhang 1998 - - Germline - - - - - DNA SSCA - - AHC - PubMed: Zhang 1998 - M - United States - - - - - 1 Bert Bakker
+/. 1 c.513G>A r.(?) p.(Trp171*) Parent #1 - pathogenic g.30326968C>T g.30308851C>T - - NR0B1_000017 - PubMed: Yanase 1996; OMIM:var0006 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Yanase 1996; OMIM:var0006 - M - Korea - - - - - 1 Bert Bakker
+/. 1 c.516G>A r.(?) p.(Trp172*) Parent #1 - pathogenic g.30326965C>T g.30308848C>T - - NR0B1_000009 - PubMed: Muscatelli 1994 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Muscatelli 1994 - - - - - - - - - 1 Bert Bakker
+/. 1 c.518_540del r.(?) p.fs* Parent #1 - pathogenic g.30326943_30326965del g.30308826_30308848del - - NR0B1_000041 - PubMed: Zhang 1998 - - Germline - - - - - DNA SEQ - - AHC - PubMed: Zhang 1998 - M - Japan - - - - - 1 Bert Bakker
-?/. - c.521G>C r.(?) p.(Arg174Pro) Unknown - likely benign g.30326960C>G g.30308843C>G NR0B1(NM_000475.4):c.521G>C (p.R174P) - NR0B1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527A>G r.(?) p.(Tyr176Cys) Unknown - VUS g.30326954T>C - - - NR0B1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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