Unique variants in the NR0B1 gene

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

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

Reported     

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     
+/+, +/. 10 _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic, pathogenic (recessive) g.(25034000_28807460)_(31645980_31676106)del, g.(28315338_28315338)_(30327481_30671654)del, 7 more items g.(?_31119228)_(33339609_?)del - - DMD_040078, DMD_050080, NR0B1_000001, NR0B1_000002, NR0B1_000031, NR0B1_000112, NR0B1_000113, 2 more items deletion does not include DXS319, deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial), 2 more items PubMed: Carrie 1999, PubMed: Guo 1995, PubMed: Kinoshita 1997, PubMed: Zhang 2004, 1 more item - - Germline, Germline/De novo (untested), Unknown yes - - - - Johan den Dunnen, Bert Bakker
?/. 1 _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 - - - - - Johan den Dunnen
+/+, +/. 15 _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(25000000_28500000)_(33357726_37000000)del, g.(25040000_28600000)_(31241239_31279071)del, 10 more items g.(28180000_28480000)_(31968515_32216915)del, g.(29668505_29917463)_(31348635_31444480)del, 2 more items hg19 25878399_31987991del, hg19 29008175–31496701del - DMD_003415, DMD_003416, DMD_003417, DMD_040079, DMD_040080, DMD_040081, DMD_050380, DMD_054880, 4 more items 2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD, 9 more items PubMed: Heide 2015, PubMed: Korkut 2016, PubMed: Loke 2009, PubMed: Tomar 2019, PubMed: Piko 2009, 1 more item - - De novo, Germline, Germline/De novo (untested), Unknown -, yes - - - X-inactivation CpG island 5' CAG repeat AR gene 59%:41%, 1 more item Johan den Dunnen, Poh San Lai
-?/. 1 - 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 1 c.109C>T r.(?) p.(Gln37*) - pathogenic g.30327372G>A g.30309255G>A - - NR0B1_000090 - PubMed: Ozisik 2003 - - Germline - - - - - Bert Bakker
-/., ?/. 2 1 c.114C>T r.(?) p.(=), p.(Cys38=) - benign, VUS g.30327367G>A g.30309250G>A NR0B1(NM_000475.5):c.114C>T (p.C38=) - NR0B1_000110 VKGL data sharing initiative Nederland, 1 more item PubMed: Tarpey 2009 - rs6150 CLASSIFICATION record, Germline - 34/208 - - - Johan den Dunnen, VKGL-NL_Utrecht
+/. 1 1 c.116G>A r.(?) p.(Trp39*) - pathogenic g.30327365C>T g.30309248C>T - - NR0B1_000068 - PubMed: Binder 2000 - - Germline - - - - - Bert Bakker
+/. 1 1 c.119del r.(?) p.(Gly40AlafsTer45) - pathogenic g.30327365del g.30309248del - - NR0B1_000022 - PubMed: Meloni 1996 - - Germline - - - - - Bert Bakker
+/. 1 1 c.129C>A r.(?) p.(Cys43*) - pathogenic g.30327352G>T g.30309235G>T - - NR0B1_000101 - - - - Germline - - - - - Bert Bakker
+/. 1 1 c.145del r.(?) p.(Val49TrpfsTer36) - pathogenic g.30327339del g.30309222del - - NR0B1_000037 - PubMed: Hamaguchi 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.155_156del r.(?) p.fs* - pathogenic g.30327329_30327330del g.30309212_30309213del - - NR0B1_000035 - PubMed: Nakae 1997; OMIM:var0015 - - Germline - - - - - Bert Bakker
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.243C>G r.(?) p.(Tyr81*) - pathogenic g.30327238G>C g.30309121G>C - - NR0B1_000082 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.273C>A r.(?) p.(Tyr91*) - pathogenic g.30327208G>T g.30309091G>T - - NR0B1_000023 - PubMed: Nakae 1996; OMIM:var0011 - - Germline - - - - - Bert Bakker
+/. 1 1 c.273_274delinsT r.(?) p.fs* - pathogenic g.30327207_30327208delinsA g.30309090_30309091delinsA - - NR0B1_000007 - PubMed: Muscatelli 1994 - - Germline - - - - - Bert Bakker
+/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/. 1 1 c.315_316insT r.(?) p.fs* - pathogenic g.30327165_30327166insA g.30309048_30309049insA - - NR0B1_000008 - PubMed: Muscatelli 1994 - - Germline - - - - - Bert Bakker
+/. 1 - 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 1 c.327C>A r.(?) p.(Cys109*) - pathogenic g.30327154G>T g.30309037G>T - - NR0B1_000076 - PubMed: Phelan 2001 - - Germline - - - - - Bert Bakker
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.343del r.(?) p.(Val115TrpfsTer149) - pathogenic g.30327141del g.30309024del - - NR0B1_000083 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.373_376dup r.(?) p.fs* - pathogenic g.30327106_30327109dup g.30308989_30308992dup - - NR0B1_000042 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
-/., -?/., ?/. 4 1 c.376G>A r.(?) p.(Val126Met) - benign, likely benign, VUS g.30327105C>T g.30308988C>T NR0B1(NM_000475.4):c.376G>A (p.V126M, p.(Val126Met)) - NR0B1_000032 classification based on frequency in 305 unrelated individuals, VKGL data sharing initiative Nederland PubMed: Kinoshita 1997, PubMed: Le 2019 - - CLASSIFICATION record, Germline yes frequency 0.044 - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden, VKGL-NL_Rotterdam, Bert Bakker
+/. 1 1 c.390C>A r.(?) p.(Tyr130*) - pathogenic g.30327091G>T g.30308974G>T - - NR0B1_000053 - PubMed: Peter 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.395dup r.(?) p.(Cys132TrpfsTer6) - pathogenic g.30327086dup g.30308969dup - - NR0B1_000075 - PubMed: Domenice 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.404del r.(?) p.(Cys135Leufs*129) - pathogenic g.30327077del g.30308960del - - NR0B1_000102 - - - - Germline - - - - - Bert Bakker
+/. 1 1 c.405del r.(?) p.(Cys135TrpfsTer129) - pathogenic g.30327076del g.30308959del - - NR0B1_000058 - PubMed: Reutens 1999 - - Germline - - - - - Bert Bakker
+/. 1 1 c.416dup r.(?) p.(His139GlnfsTer14) - pathogenic g.30327065dup g.30308948dup - - NR0B1_000043 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.423del r.(?) p.(Gln142ArgfsTer122) - pathogenic g.30327059del g.30308942del - - NR0B1_000069 - PubMed: Binder 2000 - - Germline - - - - - Bert Bakker
+/. 1 1 c.441C>G r.(?) p.(Tyr147*) - pathogenic g.30327040G>C g.30308923G>C - - NR0B1_000077 - PubMed: Phelan 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.457del r.(?) p.(Ser153GlnfsTer111) - pathogenic g.30327024del g.30308907del - - NR0B1_000084 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.458C>G r.(?) p.(Ser153*) - pathogenic g.30327023G>C g.30308906G>C - - NR0B1_000044 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
?/. 1 - 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 1 c.477del r.(?) p.(Pro160ArgfsTer104) - pathogenic g.30327004del g.30308887del - - NR0B1_000054 - PubMed: Peter 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.495_496dup r.(?) p.fs* - pathogenic g.30326986_30326987dup g.30308869_30308870dup - - NR0B1_000070 - PubMed: Binder 2000 - - Germline - - - - - Bert Bakker
-?/. 1 - 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
+/., -/. 3 1 c.498G>A r.(?) p.(=), p.(Arg166=) - benign, pathogenic g.30326983C>T g.30308866C>T NR0B1(NM_000475.5):c.498G>A (p.R166=) - NR0B1_000096 VKGL data sharing initiative Nederland, 1 more item PubMed: Tarpey 2009 - rs2269345 CLASSIFICATION record, Germline - 28/208 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 1 c.501del r.(?) p.(Gly169AlafsTer95) - pathogenic g.30326980del g.30308863del - - NR0B1_000045 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.512G>A r.(?) p.(Trp171*) - pathogenic g.30326969C>T g.30308852C>T - - NR0B1_000059 - PubMed: Reutens 1999 - - Germline - - - - - Bert Bakker
+/. 2 1 c.513G>A r.(?) p.(Trp171*) - pathogenic g.30326968C>T g.30308851C>T - - NR0B1_000017 - PubMed: Yanase 1996; OMIM:var0006, PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.516G>A r.(?) p.(Trp172*) - pathogenic g.30326965C>T g.30308848C>T - - NR0B1_000009 - PubMed: Muscatelli 1994 - - Germline - - - - - Bert Bakker
+/. 1 1 c.518_540del r.(?) p.fs* - pathogenic g.30326943_30326965del g.30308826_30308848del - - NR0B1_000041 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.527A>G r.(?) p.(Tyr176Cys) - VUS g.30326954T>C - - - NR0B1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.543del r.(?) p.(Gly183ValfsTer81) - pathogenic g.30326938del g.30308821del - - NR0B1_000046 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.545_546insACCC r.(?) p.fs* - pathogenic g.30326935_30326936insGGGT g.30308818_30308819insGGGT - - NR0B1_000004 - PubMed: Zanaria 1994 - - Germline - - - - - Bert Bakker
+/. 1 1 c.548del r.(?) p.(Gly183ValfsTer81) - pathogenic g.30326937del g.30308820del - - NR0B1_000055 - PubMed: Peter 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.548dup r.(?) p.(Lys184Ter) - pathogenic g.30326937dup g.30308820dup - - NR0B1_000063 - PubMed: Bassett 1999 - - Germline - - - - - Bert Bakker
+/. 1 1 c.551_552del r.(?) p.fs* - pathogenic g.30326930_30326931del g.30308813_30308814del - - NR0B1_000010 - PubMed: Muscatelli 1994 - - Germline - - - - - Bert Bakker
+/. 1 1 c.564_567dup r.(?) p.fs* - pathogenic g.30326915_30326918dup g.30308798_30308801dup - - NR0B1_000011 - PubMed: Muscatelli 1994 - - Germline - - - - - Bert Bakker
+/. 1 1 c.573_574insCCGG r.(?) p.(Ala191Profs*14) - pathogenic g.30326910_30326911insGCCG g.30308793_30308794insGCCG - - NR0B1_000103 - - - - Germline - - - - - Bert Bakker
+/. 1 1 c.585delinsCC r.(?) p.fs* - pathogenic g.30326896delinsGG g.30308779delinsGG - - NR0B1_000056 - PubMed: Peter 1998 - - Germline - - - - - Bert Bakker
+/. 2 1 c.591C>A r.(?) p.(Tyr197*) - pathogenic g.30326890G>T g.30308773G>T - - NR0B1_000066 - PubMed: Caron 1999, PubMed: Kinoshita 1997 - - Germline yes - - - - Johan den Dunnen, Bert Bakker
-?/. 2 - 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, VKGL-NL_Utrecht
+/. 1 1 c.629del r.(?) p.(Gly210AlafsTer54) - pathogenic g.30326854del g.30308737del - - NR0B1_000085 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.629dup r.(?) p.(Ser211GlnfsTer88) - pathogenic g.30326854dup g.30308737dup - - NR0B1_000047 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.702del r.(?) p.(Trp235GlyfsTer29) - pathogenic g.30326783del g.30308666del - - NR0B1_000060 - PubMed: Reutens 1999 - - Germline - - - - - Bert Bakker
+/. 3 1 c.704G>A r.(?) p.(Trp235*) - pathogenic g.30326777C>T g.30308660C>T - - NR0B1_000012 - PubMed: Muscatelli 1994; OMIM:var0005, PubMed: Zanaria 1994, PubMed: Zhang 1998 - - Germline - - MseI+ - - Bert Bakker
+/. 1 1 c.708G>A r.(?) p.(Trp236*) - pathogenic g.30326773C>T g.30308656C>T - - NR0B1_000104 - - - - Germline - - - - - Bert Bakker
+/. 1 - 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 1 c.739dup r.(?) p.(Ala247Glyfs*52) - pathogenic g.30326743dup g.30308626dup - - NR0B1_000105 - - - - Germline - - - - - Bert Bakker
+/. 1 1 c.752_762del r.(?) p.(Pro251LeufsTer44) - pathogenic g.30326722_30326732del g.30308605_30308615del - - NR0B1_000005 - PubMed: Zanaria 1994 - - Germline - - - - - Bert Bakker
+/. 1 1 c.754C>T r.(?) p.(Gln252*) - pathogenic g.30326727G>A g.30308610G>A - - NR0B1_000048 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.754del r.(?) p.(Gln252ArgfsTer12) - pathogenic g.30326727del g.30308610del - - NR0B1_000049 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/. 1 1 c.772_773insACCCTCAGCGGGC r.(?) p.fs* - pathogenic g.30326708_30326709insGCCCGCTGAGGGT g.30308591_30308592insGCCCGCTGAGGGT - - NR0B1_000078 - PubMed: Phelan 2001 - - Germline - - - - - Bert Bakker
?/. 1 1 c.785T>A r.(?) p.(Leu262Gln) - VUS g.30326696A>T g.30308579A>T - - NR0B1_000072 - PubMed: Achermann 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.788T>A r.(?) p.(Leu263*) - pathogenic g.30326693A>T g.30308576A>T - - NR0B1_000013 - PubMed: Muscatelli 1994; OMIM:var0003 - - Germline - - BstUI+ - - Bert Bakker
?/. 1 1 c.800G>C r.(?) p.(Arg267Pro) - VUS g.30326681C>G g.30308564C>G - - NR0B1_000014 - PubMed: Muscatelli 1994; OMIM:var0004 - - Germline - - - - - Bert Bakker
?/. 2 1 c.805_807del r.(?) p.(Val269del) - VUS g.30326676_30326678del g.30308559_30308561del - - NR0B1_000015 - PubMed: Muscatelli 1994, PubMed: Zhang 1998 - - Germline - - CfoI- - - Bert Bakker
+/. 1 1 c.813C>G r.(?) p.(Tyr271*) - pathogenic g.30326668G>C g.30308551G>C - - NR0B1_000024 - PubMed: Nakae 1996; OMIM:var0010 - - Germline - - - - - Bert Bakker
+/. 1 1 c.814_856delinsGCAACTTGGTGCGCAACT r.(?) p.(Leu272Alafs*92) - pathogenic g.30326625_30326667delinsAGTTGCGCACCAAGTTGC g.30308508_30308550delinsAGTTGCGCACCAAGTTGC - - NR0B1_000033 - PubMed: Kinoshita 1997 - - De novo - - - - - Bert Bakker
?/. 1 1 c.833T>C r.(?) p.(Leu278Pro) - VUS g.30326648A>G g.30308531A>G - - NR0B1_000064 - PubMed: Bassett 1999 - - Germline - - - - - Bert Bakker
+/. 1 1 c.839del r.(?) p.(Leu280ArgfsTer92) - pathogenic g.30326642del g.30308525del - - NR0B1_000018 - PubMed: Yanase 1996; OMIM:var0007 - - De novo - - MspI+ - - Bert Bakker
+/. 1 1 c.847C>T r.(?) p.(Gln283*) - pathogenic g.30326634G>A g.30308517G>A - - NR0B1_000016 - PubMed: Muscatelli 1994; OMIM:var0001 - - Germline - - PvuII- - - Bert Bakker
+/. 1 - c.848_849insAAAAAA r.(?) p.(Gln283_Leu284insLysLys) - pathogenic g.30326633_30326634insTTTTTT g.30308516_30308517insTTTTTT NR0B1(NM_000475.5):c.848_849insAAAAAA (p.Q283_L284insKK) - NR0B1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 1 c.860T>G r.(?) p.(Val287Glu) - VUS g.30326621A>C g.30308504A>C - - NR0B1_000093 - PubMed: Franzese 2005 - - Germline - - - - - Bert Bakker
?/. 1 1 c.873G>C r.(?) p.(Trp291Cys) - VUS g.30326608C>G g.30308491C>G - - NR0B1_000036 - PubMed: Nakae 1997; OMIM:var0017 - rs28935482 Germline - - - - - Bert Bakker
?/. 1 1 c.884T>C r.(?) p.(Leu295Pro) - VUS g.30326597A>G g.30308480A>G - - NR0B1_000086 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
?/. 1 1 c.890T>C r.(?) p.(Leu297Pro) - VUS g.30326591A>G g.30308474A>G - - NR0B1_000092 - PubMed: Brown 2003 - - Germline - - - - - Bert Bakker
?/. 1 1 c.898G>C r.(?) p.(Ala300Pro) - VUS g.30326583C>G g.30308466C>G - - NR0B1_000073 - PubMed: Achermann 2001 - - Germline - - - - - Bert Bakker
?/. 1 1 c.899C>T r.(?) p.(Ala300Val) - VUS g.30326582G>A g.30308465G>A - - NR0B1_000030 - PubMed: Takahashi 1997 - - Germline - - - - - Bert Bakker
+/. 1 1 c.926_927del r.(?) p.fs* - pathogenic g.30326556_30326557del g.30308439_30308440del - - NR0B1_000087 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
+/. 1 1 c.935del r.(?) p.(Ser312TrpfsTer60) - pathogenic g.30326546del g.30308429del - - NR0B1_000025 - PubMed: Nakae 1996; OMIM:var0013 - - Germline - - - - - Bert Bakker
+/. 1 1 c.942_943dup r.(?) p.fs* - pathogenic g.30326538_30326539dup g.30308421_30308422dup - - NR0B1_000050 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 1 c.986_987delinsA r.(?) p.fs* - pathogenic g.30326494_30326495delinsT g.30308377_30308378delinsT - - NR0B1_000020 - PubMed: Habiby 1996 - - Germline - - - - - Bert Bakker
+/. 1 1 c.1069C>T r.(?) p.(Gln357*) - pathogenic g.30326412G>A g.30308295G>A - - NR0B1_000038 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+?/. 1 - c.1082T>A r.(?) p.(Ile361Asn) - likely pathogenic g.30326399A>T g.30308282A>T NR0B1(NM_000475.4):c.1082T>A (p.I361N) - NR0B1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.1107G>A r.(?) p.(Trp369*) - pathogenic g.30326374C>T g.30308257C>T - - NR0B1_000006 - PubMed: Muscatelli 1994; OMIM:var0002 - - Germline - - - - - Bert Bakker
+?/., ?/. 2 1 c.1129G>A r.(?) p.(Glu377Lys) ACMG likely pathogenic (recessive), VUS g.30326352C>T g.30308235C>T - - NR0B1_000039 ACMG: Class 4 (PS4_MOD, PM1, PS3_SUP, PM2_SUP, PP3) PMID: 11443184, PMID: 28741070, PMID: 23018754, PubMed: Zhang 1998 - - Germline ? - - - - Andreas Laner, Bert Bakker
+/. 1 1 c.1130del r.(?) p.(Glu377GlyfsTer21) - pathogenic g.30326351del g.30308234del - - NR0B1_000080 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
?/. 1 1 c.1142T>A r.(?) p.(Leu381His) - VUS g.30326339A>T g.30308222A>T - - NR0B1_000071 - PubMed: Achermann 2000 - - Germline - - - - - Bert Bakker
+/. 1 1 c.1144_1158del r.(?) p.fs* - pathogenic g.30326326_30326340del g.30308209_30308223del - - NR0B1_000081 - PubMed: Zhang 2001 - - Germline - - - - - Bert Bakker
?/. 1 1 c.1146G>T r.(?) p.(Lys382Asn) - VUS g.30326335C>A g.30308218C>A - - NR0B1_000034 - PubMed: Nakae 1997; OMIM:var0016 - - Germline - - - - - Bert Bakker
-?/. 1 - c.1153G>T r.(?) p.(Val385Leu) - likely benign g.30326328C>A g.30308211C>A NR0B1(NM_000475.4):c.1153G>T (p.(Val385Leu)) - NR0B1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 1 c.1154T>G r.(?) p.(Val385Gly) - VUS g.30326327A>C g.30308210A>C - - NR0B1_000040 - PubMed: Zhang 1998 - - Germline - - - - - Bert Bakker
+/. 1 - c.1168+1G>T r.spl? p.? - pathogenic g.30326312C>A g.30308195C>A NR0B1(NM_000475.5):c.1168+1G>T - NR0B1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 1 c.1168+814G>A r.(?) p.(=) - VUS g.30325499C>T g.30307382C>T - - NR0B1_000097 - - - rs11095180 Germline - 0.11 - - - Bert Bakker
+/. 1 2 c.1169-1572_*423delinsTTTATTTGGAAATATATATAATTTCCA r.? p.? - pathogenic g.30322274_30324511delinsGGAAATTATATATATTTCCAAATAA g.30304157_30306394delinsGGAAATTATATATATTTCCAAATAA - - NR0B1_000089 2.2 Kb deletion and insertion PubMed: Salvi 2002 - - Germline - - - - - Bert Bakker
?/. 1 2 c.1169-1015A>C r.(?) p.(=) - VUS g.30323955T>G g.30305838T>G - - NR0B1_000099 1 more item - - rs3788890 Germline - 0.21 - - - Bert Bakker
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