All variants in the NR0B1 gene

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(28315338_28315338)_(30327481_30671654)del - - - NR0B1_000115 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(28606165_28771534)_(30746860_31140035)del - - - NR0B1_000112 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(28807543_29155309)_(30327481_30671654)del - - - NR0B1_000113 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(29686622_29935580)_(30327481_30671654)del - - - NR0B1_000114 - PubMed: Carrie 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/+ _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - 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 - - 0 - Johan den Dunnen
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_30322695)_(30746860_?)del - - - NR0B1_000002 large deletion, incl. GKD gene PubMed: Guo 1995 - - Germline - - - 0 - Bert Bakker
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_30322695)_(30327481_?)del - - - NR0B1_000001 - PubMed: Guo 1995 - - Germline - - - 0 - Bert Bakker
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(30256800_30322695)_(30327481_?)del - - - NR0B1_000031 deletion does not include DXS319 PubMed: Kinoshita 1997 - - Germline/De novo (untested) - - - 0 - Bert Bakker
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_30322695)_(30327481_?)del - - - NR0B1_000001 - PubMed: Kinoshita 1997 - - Germline/De novo (untested) - - - 0 - Bert Bakker
?/. _1_2_ c.(?_-1)_(*1_?)dup r.? p.? - VUS g.(29488607_30275904)_(30353407_30358281)dup - hg18 :g.(29398528_30185825)_(30263328_30268202)dup - NR0B1_000116 - PubMed: Oshima 2009 - - Germline - - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(28606165_29935580)_(33229674_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(30000000_30322000)_(33229674_?)del - - - DMD_040081 deletion incl. NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - 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 - - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - 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 - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - 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 - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - 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 - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline - - - 0 - Johan den Dunnen
+/+ _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del - - - DMD_003415 ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted PubMed: Piko 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(32867938_33038255)del g.(?_31119228)_(32849821_33020138)del - - DMD_050380 - PubMed: Loke 2009, PubMed: Tomar 2019 - - Germline/De novo (untested) - - - 0 - Poh San Lai
+/. - c.0 r.0 p.0 - 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 - - - 0 - Johan den Dunnen
+/. - c.0 r.0 p.0 - 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) - - - 0 - Johan den Dunnen
+/. - c.0 r.0 p.0 - 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 - - - 0 X-inactivation CpG island 5' CAG repeat AR gene 59%:41% Johan den Dunnen
+/. - c.0 r.0 p.0 - 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) - - - 0 X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37 Johan den Dunnen
-?/. - c.16C>A r.(?) p.(His6Asn) - 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 - - - - - VKGL-NL_Leiden
+/. 1 c.109C>T r.(?) p.(Gln37*) - pathogenic g.30327372G>A g.30309255G>A - - NR0B1_000090 - PubMed: Ozisik 2003 - - Germline - - - 0 - Bert Bakker
?/. 1 c.114C>T r.(?) p.(=) - 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 - 0 - Johan den Dunnen
-/. - c.114C>T r.(?) p.(Cys38=) - 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 - - - 0 - VKGL-NL_Utrecht
+/. 1 c.116G>A r.(?) p.(Trp39*) - pathogenic g.30327365C>T g.30309248C>T - - NR0B1_000068 - PubMed: Binder 2000 - - Germline - - - 0 - Bert Bakker
+/. 1 c.119del r.(?) p.(Gly40AlafsTer45) - pathogenic g.30327365del g.30309248del - - NR0B1_000022 - PubMed: Meloni 1996 - - Germline - - - 0 - Bert Bakker
+/. 1 c.129C>A r.(?) p.(Cys43*) - pathogenic g.30327352G>T g.30309235G>T - - NR0B1_000101 - - - - Germline - - - 0 - Bert Bakker
+/. 1 c.145del r.(?) p.(Val49TrpfsTer36) - pathogenic g.30327339del g.30309222del - - NR0B1_000037 - PubMed: Hamaguchi 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.155_156del r.(?) p.fs* - pathogenic g.30327329_30327330del g.30309212_30309213del - - NR0B1_000035 - PubMed: Nakae 1997; OMIM:var0015 - - Germline - - - 0 - Bert Bakker
-?/. - c.174G>A r.(?) p.(Arg58=) - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.243C>G r.(?) p.(Tyr81*) - pathogenic g.30327238G>C g.30309121G>C - - NR0B1_000082 - PubMed: Zhang 2001 - - Germline - - - 0 - Bert Bakker
+/. 1 c.273C>A r.(?) p.(Tyr91*) - pathogenic g.30327208G>T g.30309091G>T - - NR0B1_000023 - PubMed: Nakae 1996; OMIM:var0011 - - Germline - - - 0 - Bert Bakker
+/. 1 c.273_274delinsT r.(?) p.fs* - pathogenic g.30327207_30327208delinsA g.30309090_30309091delinsA - - NR0B1_000007 - PubMed: Muscatelli 1994 - - Germline - - - 0 - Bert Bakker
+/. - c.315G>T r.(?) p.(Trp105Cys) - 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 - - - 0 - VKGL-NL_Utrecht
+/. 1 c.315_316insT r.(?) p.fs* - pathogenic g.30327165_30327166insA g.30309048_30309049insA - - NR0B1_000008 - PubMed: Muscatelli 1994 - - Germline - - - 0 - Bert Bakker
+/. - c.323C>A r.(?) p.(Ser108Ter) - pathogenic g.30327158G>T g.30309041G>T - - NR0B1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.327C>A r.(?) p.(Cys109*) - pathogenic g.30327154G>T g.30309037G>T - - NR0B1_000076 - PubMed: Phelan 2001 - - Germline - - - 0 - Bert Bakker
-?/. - c.339C>A r.(?) p.(Pro113=) - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.343del r.(?) p.(Val115TrpfsTer149) - pathogenic g.30327141del g.30309024del - - NR0B1_000083 - PubMed: Zhang 2001 - - Germline - - - 0 - Bert Bakker
+/. 1 c.373_376dup r.(?) p.fs* - pathogenic g.30327106_30327109dup g.30308989_30308992dup - - NR0B1_000042 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
?/. 1 c.376G>A r.(?) p.(Val126Met) - VUS g.30327105C>T g.30308988C>T - - NR0B1_000032 - PubMed: Kinoshita 1997 - - Germline yes - - 0 - Bert Bakker
-/. - c.376G>A r.(?) p.(Val126Met) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.376G>A r.(?) p.(Val126Met) - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.376G>A r.(?) p.(Val126Met) - 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 - 0 - Global Variome, with Curator vacancy
+/. 1 c.390C>A r.(?) p.(Tyr130*) - pathogenic g.30327091G>T g.30308974G>T - - NR0B1_000053 - PubMed: Peter 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.395dup r.(?) p.(Cys132TrpfsTer6) - pathogenic g.30327086dup g.30308969dup - - NR0B1_000075 - PubMed: Domenice 2001 - - Germline - - - 0 - Bert Bakker
+/. 1 c.404del r.(?) p.(Cys135Leufs*129) - pathogenic g.30327077del g.30308960del - - NR0B1_000102 - - - - Germline - - - 0 - Bert Bakker
+/. 1 c.405del r.(?) p.(Cys135TrpfsTer129) - pathogenic g.30327076del g.30308959del - - NR0B1_000058 - PubMed: Reutens 1999 - - Germline - - - 0 - Bert Bakker
+/. 1 c.416dup r.(?) p.(His139GlnfsTer14) - pathogenic g.30327065dup g.30308948dup - - NR0B1_000043 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.423del r.(?) p.(Gln142ArgfsTer122) - pathogenic g.30327059del g.30308942del - - NR0B1_000069 - PubMed: Binder 2000 - - Germline - - - 0 - Bert Bakker
+/. 1 c.441C>G r.(?) p.(Tyr147*) - pathogenic g.30327040G>C g.30308923G>C - - NR0B1_000077 - PubMed: Phelan 2001 - - Germline - - - 0 - Bert Bakker
+/. 1 c.457del r.(?) p.(Ser153GlnfsTer111) - pathogenic g.30327024del g.30308907del - - NR0B1_000084 - PubMed: Zhang 2001 - - Germline - - - 0 - Bert Bakker
+/. 1 c.458C>G r.(?) p.(Ser153*) - pathogenic g.30327023G>C g.30308906G>C - - NR0B1_000044 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
?/. - c.469C>T r.(?) p.(His157Tyr) - VUS g.30327012G>A - NR0B1(NM_000475.4):c.469C>T (p.H157Y) - NR0B1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.477del r.(?) p.(Pro160ArgfsTer104) - pathogenic g.30327004del g.30308887del - - NR0B1_000054 - PubMed: Peter 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.495_496dup r.(?) p.fs* - pathogenic g.30326986_30326987dup g.30308869_30308870dup - - NR0B1_000070 - PubMed: Binder 2000 - - Germline - - - 0 - Bert Bakker
-?/. - c.497G>T r.(?) p.(Arg166Leu) - likely benign g.30326984C>A - NR0B1(NM_000475.4):c.497G>T (p.R166L) - NR0B1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.498G>A r.(?) p.(=) - 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 - 0 - Johan den Dunnen
-/. - c.498G>A r.(?) p.(Arg166=) - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.498G>A r.(?) p.(Arg166=) - 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 - - - 0 - VKGL-NL_Utrecht
+/. 1 c.501del r.(?) p.(Gly169AlafsTer95) - pathogenic g.30326980del g.30308863del - - NR0B1_000045 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.512G>A r.(?) p.(Trp171*) - pathogenic g.30326969C>T g.30308852C>T - - NR0B1_000059 - PubMed: Reutens 1999 - - Germline - - - 0 - Bert Bakker
+/. 1 c.513G>A r.(?) p.(Trp171*) - pathogenic g.30326968C>T g.30308851C>T - - NR0B1_000017 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.513G>A r.(?) p.(Trp171*) - pathogenic g.30326968C>T g.30308851C>T - - NR0B1_000017 - PubMed: Yanase 1996; OMIM:var0006 - - Germline - - - 0 - Bert Bakker
+/. 1 c.516G>A r.(?) p.(Trp172*) - pathogenic g.30326965C>T g.30308848C>T - - NR0B1_000009 - PubMed: Muscatelli 1994 - - Germline - - - 0 - Bert Bakker
+/. 1 c.518_540del r.(?) p.fs* - pathogenic g.30326943_30326965del g.30308826_30308848del - - NR0B1_000041 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
-?/. - c.521G>C r.(?) p.(Arg174Pro) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.527A>G r.(?) p.(Tyr176Cys) - VUS g.30326954T>C - - - NR0B1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.543del r.(?) p.(Gly183ValfsTer81) - pathogenic g.30326938del g.30308821del - - NR0B1_000046 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.545_546insACCC r.(?) p.fs* - pathogenic g.30326935_30326936insGGGT g.30308818_30308819insGGGT - - NR0B1_000004 - PubMed: Zanaria 1994 - - Germline - - - 0 - Bert Bakker
+/. 1 c.548del r.(?) p.(Gly183ValfsTer81) - pathogenic g.30326937del g.30308820del - - NR0B1_000055 - PubMed: Peter 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.548dup r.(?) p.(Lys184Ter) - pathogenic g.30326937dup g.30308820dup - - NR0B1_000063 - PubMed: Bassett 1999 - - Germline - - - 0 - Bert Bakker
+/. 1 c.551_552del r.(?) p.fs* - pathogenic g.30326930_30326931del g.30308813_30308814del - - NR0B1_000010 - PubMed: Muscatelli 1994 - - Germline - - - 0 - Bert Bakker
+/. 1 c.564_567dup r.(?) p.fs* - pathogenic g.30326915_30326918dup g.30308798_30308801dup - - NR0B1_000011 - PubMed: Muscatelli 1994 - - Germline - - - 0 - Bert Bakker
+/. 1 c.573_574insCCGG r.(?) p.(Ala191Profs*14) - pathogenic g.30326910_30326911insGCCG g.30308793_30308794insGCCG - - NR0B1_000103 - - - - Germline - - - 0 - Bert Bakker
+/. 1 c.585delinsCC r.(?) p.fs* - pathogenic g.30326896delinsGG g.30308779delinsGG - - NR0B1_000056 - PubMed: Peter 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.591C>A r.(?) p.(Tyr197*) - pathogenic g.30326890G>T g.30308773G>T - - NR0B1_000066 - PubMed: Caron 1999 - - Germline - - - 0 - Bert Bakker
+/. 1 c.591C>A r.(?) p.(Tyr197*) - pathogenic g.30326890G>T g.30308773G>T - - NR0B1_000066 - PubMed: Kinoshita 1997 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.600C>G r.(?) p.(Cys200Trp) - likely benign g.30326881G>C g.30308764G>C NR0B1(NM_000475.4):c.600C>G (p.C200W), NR0B1(NM_000475.5):c.600C>G (p.C200W) - NR0B1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.600C>G r.(?) p.(Cys200Trp) - likely benign g.30326881G>C - NR0B1(NM_000475.4):c.600C>G (p.C200W), NR0B1(NM_000475.5):c.600C>G (p.C200W) - NR0B1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 c.629del r.(?) p.(Gly210AlafsTer54) - pathogenic g.30326854del g.30308737del - - NR0B1_000085 - PubMed: Zhang 2001 - - Germline - - - 0 - Bert Bakker
+/. 1 c.629dup r.(?) p.(Ser211GlnfsTer88) - pathogenic g.30326854dup g.30308737dup - - NR0B1_000047 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.702del r.(?) p.(Trp235GlyfsTer29) - pathogenic g.30326783del g.30308666del - - NR0B1_000060 - PubMed: Reutens 1999 - - Germline - - - 0 - Bert Bakker
+/. 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Muscatelli 1994; OMIM:var0005 - - Germline - - MseI+ 0 - Bert Bakker
+/. 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Zanaria 1994 - - Germline - - MseI+ 0 - Bert Bakker
+/. 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Zhang 1998 - - Germline - - MseI+ 0 - Bert Bakker
+/. 1 c.708G>A r.(?) p.(Trp236*) - pathogenic g.30326773C>T g.30308656C>T - - NR0B1_000104 - - - - Germline - - - 0 - Bert Bakker
+/. - c.728_734del r.(?) p.(Leu243ArgfsTer19) - pathogenic g.30326748_30326754del - NR0B1(NM_000475.5):c.728_734delTGCGGCC (p.L243Rfs*19) - NR0B1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 c.739dup r.(?) p.(Ala247Glyfs*52) - pathogenic g.30326743dup g.30308626dup - - NR0B1_000105 - - - - Germline - - - 0 - Bert Bakker
+/. 1 c.752_762del r.(?) p.(Pro251LeufsTer44) - pathogenic g.30326722_30326732del g.30308605_30308615del - - NR0B1_000005 - PubMed: Zanaria 1994 - - Germline - - - 0 - Bert Bakker
+/. 1 c.754C>T r.(?) p.(Gln252*) - pathogenic g.30326727G>A g.30308610G>A - - NR0B1_000048 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. 1 c.754del r.(?) p.(Gln252ArgfsTer12) - pathogenic g.30326727del g.30308610del - - NR0B1_000049 - PubMed: Zhang 1998 - - Germline - - - 0 - Bert Bakker
+/. - c.765C>A r.(?) p.(Cys255Ter) - pathogenic g.30326716G>T g.30308599G>T NR0B1(NM_000475.5):c.765C>A (p.C255*) - NR0B1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 1 c.772_773insACCCTCAGCGGGC r.(?) p.fs* - pathogenic g.30326708_30326709insGCCCGCTGAGGGT g.30308591_30308592insGCCCGCTGAGGGT - - NR0B1_000078 - PubMed: Phelan 2001 - - Germline - - - 0 - Bert Bakker
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