Full data view for gene CYBB

Information The variants shown are described using the NM_000397.3 transcript reference sequence.

1028 entries on 11 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     
+/. _1 - r.(=) p.(=) Maternal (inferred) - pathogenic (recessive) g.37639262A>C g.37780009A>C -57A>C (c.-69A>C) - CYBB_000126 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0089 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1 - r.(=) p.(=) Maternal (inferred) - pathogenic (recessive) g.37639264T>C g.37780011T>C -55T>C (c.-67T>C) - CYBB_000126 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0166 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1 - r.(=|<1) p.(=|<1) Maternal (inferred) - pathogenic (recessive) g.37639265T>C g.37780012T>C -66T>C - CYBB_000126 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 11i_13_ c.(1314+1_1315-1)_*2544{0} r.? p.? Maternal (inferred) - pathogenic (recessive) g.(37664422_37665639)_(37672714_?)del g.(37805169_37806386)_(37813461_?)del del >4.3kb - CYBB_000414 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0172 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 11i_13_ c.(1461+1_1462-1)_*2544{0} r.? p.? Unknown - pathogenic (recessive) g.(37665787_37668819)_(37672714_?)del g.(37806534_37809566)_(37813461_?)del del ex12-13 - CYBB_000448 >6Kb deletion PubMed: Ariga 1998, PubMed: Ishibashi 2000 - - De novo - - - - - DNA Southern - - CGD Pat15;Pat91-47 PubMed: Ariga 1998, PubMed: Ishibashi 2000 2-generation family, 1 affected, non-carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. 11i_13_ c.(1461+1_1462-1)_*2544{0} r.? p.? Unknown - pathogenic (recessive) g.(37665787_37668819)_(37672714_?)del g.(37806534_37809566)_(37813461_?)del del ex12-13 - CYBB_000448 2Kb deletion PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat91-48 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. 4i_13_ c.(337+1_338-1)_*2544{0} r.? p.? Unknown - pathogenic (recessive) g.(37651313_37652917)_(37672714_?)del g.(37792060_37793664)_(37813461_?)del del ex5-13 - CYBB_000233 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - CGD Pat148 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 7i_13_ c.(804+1_805-1)_*2544{0} r.? p.? Unknown - pathogenic (recessive) g.(37658338_37660508)_(37672714_?)del g.(37799085_37801255)_(37813461_?)del del ex8-13 - CYBB_000318 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat145 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 8i_13_ c.(897+1_898-1)_*2544{0} r.? p.? Unknown - pathogenic (recessive) g.(37660602_37663129)_(37672714_?)del g.(37801349_37803876)_(37813461_?)del del ex9-13 - CYBB_000336 - PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat15 PubMed: Wang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. _1_3i c.-61_(252+1_253-1){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_37639270)_(37642854_37651227)del g.(?_37780017)_(37783601_37791974)del del ex1-3 - CYBB_000142 - PubMed: Jakobsen 2012 - - Germline - - - - - DNA SEQ - - CGD Pat7 PubMed: Jakobsen 2012 - M - Denmark - - - - - 1 Johan den Dunnen
+/. _1_3i c.-61_(252+1_253-1){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_37639270)_(37642854_37651227)del g.(?_37780017)_(37783601_37791974)del del ex1-3 - CYBB_000142 - PubMed: Zhou 2018 - - De novo - - - - - DNA SEQ - - CGD Pat142 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected non-carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_1i c.-61_(45+1_46-1){0} r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37639376_37641340)del g.(?_37780017)_(37780123_37782087)del del ex1 - CYBB_000141 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_1i c.-61_(45+1_46-1){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_37639270)_(37639376_37641340)del g.(?_37780017)_(37780123_37782087)del del ex1 - CYBB_000141 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat3 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_7i c.-61_(675_805-1){0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37658208_37660508)del g.(?_37780017)_(37798955_37801255)del del ex1-7 - CYBB_000143 25Kb deletion PubMed: Faizunnessa 1997, PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-45 PubMed: Faizunnessa 1997, PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_7i c.-61_(804+1_805-1){0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37658338_37660508)del g.(?_37780017)_(37799085_37801255)del del ex1-7 - CYBB_000144 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat17 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0119 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0034 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0169 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0201 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0167 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del (1-?_1710+?)del - CYBB_000005 - PubMed: He 2014, PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat133;Pat35 PubMed: He 2014, PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del gp91 large deletion - CYBB_000005 - PubMed: Kutukculer 2019 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Kutukculer 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del - - CYBB_000005 500Kb multigene deletion Okubo 1992, PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-43 Okubo 1992, PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del - - CYBB_000005 500Kb multigene deletion PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD patient;Pat91-44 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del CYBB gene - CYBB_000005 - PubMed: Wolach 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 1 affected M - Israel - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat143 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat144 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat146 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat147 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat98 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat99 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del gross deletion - CYBB_000005 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Ko 2014 - M - Korea - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del CYBB del - CYBB_000005 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam23Pat29 PubMed: Koker 2013 family, 1 affected, unaffected heterozygous carrier mother/female relatives M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del CYBB del - CYBB_000005 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam24Pat30 PubMed: Koker 2013 family, 1 affected, unaffected heterozygous carrier mother/female relatives M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del CYBB del - CYBB_000005 - PubMed: Koker 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Fam25Pat31 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del CYBB - CYBB_000005 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam8Pat15 PubMed: Aygun 2020 2-generation family, 1 affected, non-affected heterozygous carrier mother M no Turkey - - - - - 1 Johan den Dunnen
+/. 12 c.1528_1529deT r.(?) p.(Leu510ValfsTer8) Maternal (confirmed) - pathogenic (recessive) g.37668886_37668887del g.37809633_37809634del 1528_1529delTT - CYBB_000460 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam22Pat28 PubMed: Koker 2013 family, 1 affected, unaffected heterozygous carrier mother M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-2230095_*1228885del r.0 p.0 Unknown - pathogenic (recessive) g.35409236_38899055del - hg17 35168893-38655271del - CYBB_000481 deletion incl. XK, CYBB, RPGR, OTC, TSPAN7 PubMed: Yamada 2010 - - De novo - - - - - DNA arrayCGH, PCR, SEQ - - ? Pat1 PubMed: Yamada 2010 - M no Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.(?_-94198)_(*2544_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del CYBB, XK - XK_000018 210kb deletion PubMed: Martel 2012 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat20 PubMed: Martel 2012 2-generation family, non-carrier mother M - France - - - - - 1 Johan den Dunnen
+/. _1_13_ c.(?_-94198)_(*2544_?)del r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del CYBB, XK - XK_000018 1.3Mb deletion PubMed: Martel 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat21 PubMed: Martel 2012 2-generation family, heterozygous carrier mother M - France - - - - - 1 Johan den Dunnen
+/. _1 c.-65C>T r.? p.? Unknown - pathogenic (recessive) g.37639266C>T g.37780013C>T -53C>T - CYBB_000126 - PubMed: Suzuki 1998, PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD patient;Pat91-1 PubMed: Suzuki 1998, PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(37372045_37372104)_(37965797_37965856)del - - - CYBB_000007 593.8 kb deletion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGD 22383943-Pat3 PubMed: Arai 2012 carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic g.(35839374_35839433)_(37787250_37787309)del - - - CYBB_000007 1944.5 kb deletion PubMed: Arai 2012 - - De novo - - - - - DNA arrayCGH - - CGD 22383943-Pat4 PubMed: Arai 2012 mother not a carrier M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 DMD_042217 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGD 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - - - - 1 Johan den Dunnen
?/. _1_13_ c.-61_*2544{2} r.? p.? Maternal (confirmed) - VUS g.(36868901_37519019)_(37704713_38023983)dup - hg18 g.(36778822_37403938)_(37589657_37908927)dup - CYBB_000004 - PubMed: Oshima 2009 - - Germline - - - - - DNA arrayCGH, MLPA, Southern - - - 19449031-PatCo3 PubMed: Oshima 2009 familial case, carrier mother M - United States - - - - - 1 Johan den Dunnen
+/. _1 - r.(=|<1) p.(=|<1) Unknown - pathogenic (recessive) g.37639266C>T g.37780013C>T -65C>T - CYBB_000126 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat11 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. _12i_13_ c.(1586+1_1587-1)_*2544{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(37668945_37670043)_(37672714_?)del g.(37809692_37810790)_(37813461_?)del del ex13 - CYBB_000117 - PubMed: Royer-Pokor 1986, PubMed: Rae 1998 - - Germline - - - - - DNA Southern - - CGDX PatJW;A0203 PubMed: Royer-Pokor 1986, PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic g.37607818_37672764del g.37748565_37813511del hg17 37364030-37428980del64950 - CYBB_000005 - PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH, SEQ - - CGD 22383943-Pat1 PubMed: Arai 2012 carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(30300000_30577566)_(38080045_38200000)del - hg19 30577566-38080045del - CYBB_000005 7.5Mb deletion incl. GK, DMD, CFAP47, CYBB, XK, RPGR PubMed: Bi 2023 - - Germline - - - - - DNA SEQ-NG - CNVseq ? patient PubMed: Bi 2023 2-generation family, 1 affected, unaffected carrier mother/sister M - China - 00y03m - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.31683517_37789444del - - - CYBB_000005 - PubMed: Peng 2007 - - Germline - - - - - DNA PCR, SEQ - - CGD Pat2 PubMed: Peng 2007 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.37607818_37672762del g.37748565_37813509del hg17 37364030_37428980del64950 - CYBB_000005 58.7kb deletion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - CGDX Pat1(A1472) PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(37372045_37372104)_(37965797_37965856)del - hg17 g.(37128233_37128292)_(37722014_37722073)del - CYBB_000005 593.8kb deletion incl. XK, CYBB, DYNLT3 PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGDX Pat3 PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(35839374_35839433)_(37787250_37787309)del - hg17 chrX:g.(35599031_35599090)_(37543467_37543526)del - CYBB_000005 1944.5kb deletion incl. XK, CYBB, DYNLT3; mother not avaliable PubMed: Arai 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CGDX Pat4 PubMed: Arai 2012 family, 1 affected M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del - hg17 g.(32167387_32167446)_(37878746_37878805)del - CYBB_000005 5711.4kb deletion incl. DMD, XK, CYBB, DYNLT3 PubMed: Arai 2012 - - Germline - - - - markedly skewed X-inactivation (nromal chromosome inactive) DNA arrayCGH - - CGDX Pat5(A1445) PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.37015744_37854516delins37007623_37007658 - hg17 36775400-37610734delins36 - CYBB_000005 deletion incl. XK, CYBB; insertionTGGAGCAAGGTAACTGGAATGTCCTGCTAGCTTCCC PubMed: Yamada 2010 - - Germline yes - - - - DNA arrayCGH, PCR, SEQ - - CGDX Pat2 PubMed: Yamada 2010 2-generation family, 2 affected brothers, unaffected carrier mother M - Japan - - - - - 2 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37706889_?)del g.(?_37685880)_(37847636_?)del del gene - CYBB_000005 deletion incl. XK, CYBB, DYNLT3 PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, PCR - - CGD Pat23(A1446) PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat100 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat101 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_31138513)_(37672714_?)del g.(?_31120396)_(37813461_?)del del DMD gene - DMD_010179 5.5Mb Xp21.1-p11.4 deletion incl. DMD, XK, CYBB PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH, MLPA - - BMD/DMD, CGD, MCLDS D687 PubMed: Kekou 2023 contiguous gene syndrome M - Greece - - - - - 1 Johan den Dunnen
+/. 2i_13_ c.142-289_*2544{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.[37642454_(37731114_37731173);(37758263_37758322)_37856174dup] - hg17 g.(37402945_37403004)_(37487331_37487390)del;(37514480_37514539)_(37606312_37606370)dup - CYBB_000118 complex rearrangement, 84.4kb deletion (incl. CYBB and LANCL3) and 91.9kb duplication and possible inversion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - CGDX Pat2(A1471) PubMed: Arai 2012 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. - c.? r.[483_484insN[115],338_483delinsN[115]] p.? Maternal (confirmed) - pathogenic (recessive) g.? - 483-484ins115 338-483del146483-484ins115 (K161fsX173 A113fsX3) - CLCN5_000000 variant detected in RNA, variant at DNA not described PubMed: Xu 2014, PubMed: Wu 2017 - - Germline - - - - - RNA RT-PCR, SEQ - - CGD Pat8 PubMed: Xu 2014, PubMed: Wu 2017 family, affected proband and cousin M - China - - - - - 2 Johan den Dunnen
+/. 2 c.? r.46_92del p.? Unknown - pathogenic (recessive) g.? - 46-92del46 (L16fsX18) - CLCN5_000000 variant detected in RNA, variant at DNA not described PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - RNA RT-PCR, SEQ - - CGD Pat16 PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. - c.? r.[338_674del,484_674del] p.? Unknown - pathogenic (recessive) g.? - (A113fsX17,N162fsX17) - CLCN5_000000 variant detected in RNA, variant at DNA not described PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - RNA RT-PCR, SEQ - - CGD Pat22 PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. 4 c.? r.(254_312del) p.(Cys86MetfsTer17) Unknown - pathogenic (recessive) g.? g.? 254_312del59 - CLCN5_000000 - PubMed: Zhou 2018, PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat23 PubMed: Zhou 2018, PubMed: Wang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.37639331A>G g.37780078A>G M1V - CYBB_000145 - PubMed: He 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat49 PubMed: He 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.37639331A>G g.37780078A>G (M1V) - CYBB_000145 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat125 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Maternal (confirmed) - pathogenic (recessive) g.37639331A>G g.37780078A>G - - CYBB_000145 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.37639331A>G g.37780078A>G 1A>G;6delG - CYBB_000145 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat2 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1 c.1_3delinsTT r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.37639331_37639333delinsTT g.37780078_37780080delinsTT 1_3delATGinsTT (M1LfsX6) - CYBB_000146 - PubMed: Zhou 2018 - - De novo - - - - - DNA SEQ - - CGD Pat25 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected non-carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 1 c.2T>G r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.37639332T>G g.37780079T>G - - CYBB_000147 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat31 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 1 c.4G>T r.(?) p.(Gly2Trp) Unknown - pathogenic (recessive) g.37639334G>T g.37780081G>T 4C>T - CYBB_000148 - PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat67 PubMed: Wang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 1 c.6del r.(?) p.(Asn3ThrfsTer4) Maternal (inferred) - pathogenic (recessive) g.37639336del g.37780083del 1A>G;6delG - CYBB_000149 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat2 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. - c.8dup r.(?) p.(Asn3LysfsTer6) Unknown - pathogenic (recessive) g.37639338dup g.37780085dup 8dupA - CYBB_000150 - PubMed: Wolach 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 1 affected M - Israel - - - - - 1 Johan den Dunnen
+/. 1 c.11G>A r.(?) p.(Trp4Ter) Unknown - pathogenic (recessive) g.37639341G>A g.37780088G>A - - CYBB_000151 - PubMed: Raptaki 2013 - - Germline - - - - - DNA SEQ - - CGD PatA PubMed: Raptaki 2013 - M - Greece - - - - - 1 Johan den Dunnen
+/. 1 c.12G>A r.(?) p.(Trp4Ter) Maternal (inferred) - pathogenic (recessive) g.37639342G>A g.37780089G>A 24G>A - CYBB_000152 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0108 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.25G>A r.(?) p.(Gly9Arg) Maternal (confirmed) - pathogenic (recessive) g.37639355G>A g.37780102G>A - - CYBB_000153 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat47 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 1 c.27dup r.(?) p.(Leu10AlafsTer25) Maternal (confirmed) - pathogenic (recessive) g.37639357dup g.37780104dup 27dupG - CYBB_000154 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD FamPat2a PubMed: Ko 2014 family, 2 affected maternal cousins M - Korea - - - - - 2 Johan den Dunnen
+/. 1 c.27dup r.(?) p.(Leu10AlafsTer25) Maternal (confirmed) - pathogenic (recessive) g.37639357dup g.37780104dup 27dupG - CYBB_000154 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD FamPat2b PubMed: Ko 2014 cousin M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.34A>C r.(?) p.(Ile12Leu) Parent #1 - likely benign g.37639364A>C g.37780111A>C - - CYBB_000094 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044560 Germline - 10/2638 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
+/. 1i c.45+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.37639376G>A g.37780123G>A - - CYBB_000155 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat6 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+1G>A del exon 11? p.? Unknown - pathogenic (recessive) g.37639376G>A g.37780123G>A - - CYBB_000155 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat123 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+1G>A r.spl p.? Unknown - pathogenic (recessive) g.37639376G>A g.37780123G>A - - CYBB_000155 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat102 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+1G>C r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.37639376G>C g.37780123G>C - - CYBB_000133 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD FamPat22a PubMed: Ko 2014 family, identical twins M - Korea - - - - - 2 Johan den Dunnen
+/. 1i c.45+1G>C r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.37639376G>C g.37780123G>C - - CYBB_000133 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD FamPat22b PubMed: Ko 2014 twin M - Korea - - - - - 1 Johan den Dunnen
+/. 1i c.45+1G>C r.0 p.0 Unknown - pathogenic (recessive) g.37639376G>C - - - CYBB_000133 - PubMed: Roesler 1999 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - CGDX PatCP2 PubMed: Roesler 1999 - M - Germany - - - - - 1 Johan den Dunnen
+/. 1i c.45+2del r.spl p.0? Unknown - pathogenic (recessive) g.37639377del g.37780124del 45+2delT - CYBB_000156 - PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat41 PubMed: Wang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+3A>T r.spl p.? Unknown - pathogenic (recessive) g.37639378A>T g.37780125A>T - - CYBB_000157 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat103 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+3_45+5delinsTA r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.37639378_37639380delinsTA g.37780125_37780127delinsTA 45+3A>T+5delG - CYBB_000158 - PubMed: Martel 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat1 PubMed: Martel 2012 2-generation family, heterozygous carrier mother M - France - - - - - 1 Johan den Dunnen
+/. 1i c.45+4A>C r.spl p.? Unknown - pathogenic (recessive) g.37639379A>C g.37780126A>C - - CYBB_000160 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat104 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+4A>G del exon 1? p.? Maternal (confirmed) - pathogenic (recessive) g.37639379A>G g.37780126A>G - - CYBB_000159 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat24 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+?/. - c.45+5G>A r.spl? p.? Unknown - likely pathogenic g.37639380G>A g.37780127G>A CYBB(NM_000397.4):c.45+5G>A - CYBB_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.45+5G>T r.spl? p.(?) Unknown - pathogenic (recessive) g.37639380G>T g.37780127G>T - - CYBB_000161 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat105 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.45+6T>C r.=|<1 p.? Maternal (inferred) - pathogenic (recessive) g.37639381T>C g.37780128T>C IVS1+6T>C - CYBB_000162 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0134 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 1i c.45+907_45+908ins[KJ027511:g.1_5839inv;AGTCTTTGAGTTTT] r.45_46ins[KJ027511.1:g.597_703inv] p.Ile25_Leu26ins*2 Maternal (confirmed) - pathogenic (recessive) g.37640282_37640283ins[KJ027511.1:g.1_5839inv;GAGTCTTTGAGTTTT] g.37781029_37781030ins[KJ027511.1:g.1_5839inv;GAGTCTTTGAGTTTT] - - CYBB_000121 - PubMed: De Boer 2014 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - CGDX patient PubMed: De Boer 2014 2-generation family, 1 affected, unaffected carrier mother M - Netherlands - - - - - 1 Johan den Dunnen
+/. 2i c.46-2A>G r.46_141del p.Leu16Gly47del Maternal (confirmed) - pathogenic (recessive) g.37641339A>G g.37782086A>G IVS1-2A>G - CYBB_000163 - PubMed: Xu 2014, PubMed: Wu 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat21 PubMed: Xu 2014, PubMed: Wu 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 1i c.46-2A>G r.(46_141del) p.(Leu16_Gly47del) Unknown - pathogenic (recessive) g.37641339A>G g.37782086A>G - - CYBB_000163 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat106 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.46-2A>G r.(46_141del) p.(Leu16_Gly47del) Unknown - pathogenic (recessive) g.37641339A>G g.37782086A>G - - CYBB_000163 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat107 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 1i c.46-1G>A r.(46_141del) p.(Leu16_Gly47del) Maternal (confirmed) - pathogenic (recessive) g.37641340G>A g.37782087G>A - - CYBB_000130 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat90 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
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