Full data view for gene CYBA

Information The variants shown are described using the NM_000101.3 transcript reference sequence.

150 entries on 2 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     
+/. 2i_6_ c.(128+1_129-1)_*64{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_88709697)_(88713584_88714452)del g.(?_88643289)_(88647176_88648044)del del ex3-6 - CYBA_000042 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB18Pat20 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 5i_6_ c.(369+1_370-1)_*64{0} r.? p.? Paternal (inferred) - pathogenic (recessive) g.(?_88709697)_(88709980_88712523)del g.(?_88643289)_(88643572_88646115)del del ex6 - CYBA_000041 - PubMed: Jakobsen 2012 - - Germline - - - - - DNA SEQ - - CGD Pat2 PubMed: Jakobsen 2012 - F - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.-71_(58+1_59-1){0} r.spl p.? Parent #1 - pathogenic (recessive) g.(88714523_88717363)_(88717492_?)del g.(88648115_88650955)_(88651084_?)del del ex1 - CYBA_000071 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB7 PubMed: Gao 2019 2-generation family, 1 affected, unaffected non-carrier father - - China - - - - - 1 Johan den Dunnen
+/. _1_1i c.-71_(58+1_59-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(88714523_88717363)_(88717492_?)del g.(88648115_88650955)_(88651084_?)del del ex1 - CYBA_000071 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB17Pat18 PubMed: Koker 2013 family, 2 affected F - Turkey - - - - - 2 Johan den Dunnen
+/. _1_1i c.-71_(58+1_59-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(88714523_88717363)_(88717492_?)del g.(88648115_88650955)_(88651084_?)del del ex1 - CYBA_000071 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB17Pat19 PubMed: Koker 2013 relative M - Turkey - - - - - 1 Johan den Dunnen
?/. - c.-4677T>C r.(?) p.(=) Unknown - VUS g.88722098A>G - - - CYBA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4395G>A r.(?) p.(=) Unknown - likely benign g.88721816C>T - MVD(NM_002461.1):c.688G>A (p.(Glu230Lys)) - CYBA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2316G>A r.(?) p.(=) Unknown - likely benign g.88719737C>T g.88653329C>T MVD(NM_002461.1):c.1093G>A (p.(Gly365Ser)) - CYBA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_6_ c.(203+1_204-1)_*64{0} r.(?) p.? Both (homozygous) - pathogenic (recessive) g.(?_88709697)_(88713247_88713508)del g.(?_88643289)_(88646839_88647100)del del ex4-6 - CYBA_000038 - PubMed: Kulkarni 2018 - - Germline - - - - - DNA SEQ - - CGD Pat49 PubMed: Kulkarni 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 6 c.? r.? p.fs Both (homozygous) - pathogenic (recessive) g.? - del34bp - CRYM_000000 - PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat22-5 PubMed: Ishibashi 2000 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.88717421T>C g.88651013T>C 1A>G (Met1Val);353G>A - CYBA_000074 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat71 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother/sister - - China - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.88717421T>C g.88651013T>C - - CYBA_000074 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB6 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. - c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: He 2011, PubMed: Ying 2014, PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat139 PubMed: He 2011, PubMed: Ying 2014, PubMed: Wu 2017 - M - China - - - - - 1 Johan den Dunnen
+/. - c.7C>T r.(?) p.(Gln3Ter) Parent #1 - pathogenic (recessive) g.88717415G>A g.88651007G>A [7C>T;59-2A>G] - CYBA_000073 - PubMed: He 2011, PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat140 PubMed: He 2011, PubMed: Wu 2017 - - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Parent #2 - pathogenic (recessive) g.88717415G>A g.88651007G>A 7C>T;70G>A - CYBA_000073 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat69 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat22-1 PubMed: Ishibashi 2000 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat151 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat153 PubMed: Zhou 2018 - - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat154 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat155 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat157 PubMed: Zhou 2018 - - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Parent #1 - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB1 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB2 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Both (homozygous) - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB3 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Parent #1 - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB5 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 1 c.7C>T r.(?) p.(Gln3Ter) Parent #2 - pathogenic (recessive) g.88717415G>A g.88651007G>A - - CYBA_000073 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB6 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
-/. - c.24G>A r.(?) p.(Met8Ile) Unknown - benign g.88717398C>T g.88650990C>T - - CYBA_000035 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.27G>A r.(?) p.(Trp9Ter) Both (homozygous) - pathogenic (recessive) g.88717395C>T g.88650987C>T - - CYBA_000072 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat2 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 1 c.27G>A r.(?) p.(Trp9Ter) Both (homozygous) - pathogenic (recessive) g.88717395C>T g.88650987C>T - - CYBA_000072 - PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat22-2 PubMed: Ishibashi 2000 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.27G>A r.(?) p.(Trp9Ter) Parent #1 - pathogenic (recessive) g.88717395C>T g.88650987C>T - - CYBA_000072 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam19Pat28 PubMed: Aygun 2020 2-generation family, 1 affected M no Turkey - - - - - 1 Johan den Dunnen
-/. - c.36= r.(=) p.(Glu12=) Unknown - benign g.88717386T>C g.88650978T>C CYBA(NM_000101.4):c.36A>G (p.E12=) - CYBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36G>A r.(?) p.(Glu12=) Unknown - benign g.88717386= g.88650978= 36A>G - CYBA_000034 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.(58+1_59-1)? r.58_59insN[79] p.Ile20SerfsTer77 Both (homozygous) - pathogenic (recessive) g.(88714523_88717363)? g.(88648115_88650955)? ins. 79 bp in intron 1 - CYBA_000068 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 2 affected - - Israel - - - - - 2 Johan den Dunnen
+/. 1i c.58+2T>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.88717362A>C g.88650954A>C - - CYBA_000070 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB1Pat1 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.58+2T>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.88717362A>C g.88650954A>C - - CYBA_000070 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam16Pat25 PubMed: Aygun 2020 2-generation family, 1 affected F yes Turkey - - - - - 1 Johan den Dunnen
+/. 1i c.58+4_58+7del r.(?) p.? Parent #1 - pathogenic (recessive) g.88717363_88717366del g.88650955_88650958del IVS1del+4agtg - CYBA_000009 - PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat22-3 PubMed: Ishibashi 2000 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1i c.58+4_58+7del r.spl p.(Ile20SerfsTer77) Both (homozygous) - pathogenic (recessive) g.88717363_88717366del g.88650955_88650958del 58+4_+7delAGTG - CYBA_000009 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB2Pat2 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 1i c.58+4_58+7del r.spl p.(Ile20SerfsTer77) Both (homozygous) - pathogenic (recessive) g.88717363_88717366del g.88650955_88650958del 58+4_+7delAGTG - CYBA_000009 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB3Pat3 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 1i c.58+4_58+7del r.spl p.(Ile20SerfsTer77) Both (homozygous) - pathogenic (recessive) g.88717363_88717366del g.88650955_88650958del 58+4_+7delAGTG - CYBA_000009 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB4Pat4 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
-/. - c.59-37G>A r.(?) p.(=) Unknown - benign g.88714559C>T - - - CYBA_000021 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59-4G>A r.spl? p.? Unknown - likely benign g.88714526C>T g.88648118C>T CYBA(NM_000101.3):c.59-4G>A (p.?) - CYBA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.59-2A>G r.(59_128del) p.? Parent #2 - pathogenic (recessive) g.88714524T>C g.88648116T>C [7C>T;59-2A>G] - CYBA_000069 - PubMed: He 2011, PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat140 PubMed: He 2011, PubMed: Wu 2017 - - - China - - - - - 1 Johan den Dunnen
+/. 1i c.59-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.88714524T>C g.88648116T>C - - CYBA_000069 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB1 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 1i_4i c.(58+1_59-1)_(287+1_288-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(88712606_88713162)_(88714523_88717363)del g.(88646198_88646754)_(88648115_88650955)del del ex2-4 - CYBA_000056 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat1 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) - pathogenic (recessive) g.88714511C>T g.88648103C>T - - CYBA_000067 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat7 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.70G>A r.(?) p.(Gly24Arg) Parent #1 - pathogenic (recessive) g.88714511C>T g.88648103C>T 7C>T;70G>A - CYBA_000067 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat69 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/. - c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) - pathogenic (recessive) g.88714511C>T g.88648103C>T - - CYBA_000067 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 2 affected - - Israel - - - - - 2 Johan den Dunnen
+/. 2 c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) - pathogenic (recessive) g.88714511C>T g.88648103C>T - - CYBA_000067 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat156 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 2 c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) - pathogenic (recessive) g.88714511C>T g.88648103C>T - - CYBA_000067 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB5Pat5 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) - pathogenic (recessive) g.88714511C>T g.88648103C>T - - CYBA_000067 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB6Pat6 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.70G>A r.(?) p.(Gly24Arg) Both (homozygous) - pathogenic (recessive) g.88714511C>T g.88648103C>T - - CYBA_000067 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam18Pat27 PubMed: Aygun 2020 2-generation family, 1 affected F yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.71G>A r.(?) p.(Gly24Glu) Parent #1 - pathogenic (recessive) g.88714510C>T g.88648102C>T - - CYBA_000066 - PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat22-4 PubMed: Ishibashi 2000 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1i c.71G>A r.(?) p.(Gly24Glu) Parent #2 - pathogenic (recessive) g.88714510C>T g.88648102C>T - - CYBA_000066 - PubMed: Ishibashi 2000 - - Germline - - - - - DNA SEQ - - CGD Pat22-3 PubMed: Ishibashi 2000 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Gly24Glu) Both (homozygous) - pathogenic (recessive) g.88714510C>T g.88648102C>T - - CYBA_000066 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 4 affected - - Israel - - - - - 4 Johan den Dunnen
+/. 2 c.74G>A r.(?) p.(Gly25Asp) Both (homozygous) - pathogenic (recessive) g.88714507C>T g.88648099C>T - - CYBA_000065 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB7Pat7 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
-/. - c.85A>G r.(?) p.(Thr29Ala) Unknown - benign g.88714496T>C g.88648088T>C - - CYBA_000033 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.113T>C r.(?) p.(Phe38Ser) Unknown - benign g.88714468A>G g.88648060A>G - - CYBA_000032 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140T>G r.(?) p.(Val47Gly) Unknown - VUS g.88713572A>C g.88647164A>C CYBA(NM_000101.2):c.140T>G (p.V47G), CYBA(NM_000101.4):c.140T>G (p.V47G) - CYBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140T>G r.(?) p.(Val47Gly) Unknown - VUS g.88713572A>C g.88647164A>C CYBA(NM_000101.2):c.140T>G (p.V47G), CYBA(NM_000101.4):c.140T>G (p.V47G) - CYBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.152T>G r.(?) p.(Leu51Arg) Unknown - pathogenic (recessive) g.88713560A>C g.88647152A>C - - CYBA_000064 - PubMed: Xu 2014, PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat26 PubMed: Xu 2014 patient - - China - - - - - 1 Johan den Dunnen
+/. 3 c.152T>G r.(?) p.(Leu51Arg) Parent #1 - pathogenic (recessive) g.88713560A>C g.88647152A>C 152T>G;205T>G - CYBA_000064 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat73 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/. 3 c.152T>G r.(?) p.(Leu51Arg) Parent #2 - pathogenic (recessive) g.88713560A>C g.88647152A>C - - CYBA_000064 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB7 PubMed: Gao 2019 2-generation family, 1 affected, unaffected non-carrier father - - China - - - - - 1 Johan den Dunnen
+/. 3 c.157G>C r.(?) p.(Glu53Gln) Both (homozygous) - pathogenic (recessive) g.88713555C>G g.88647147C>G - - CYBA_000063 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat3 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 3 c.157G>C r.(?) p.(Glu53Gln) Both (homozygous) - pathogenic (recessive) g.88713555C>G g.88647147C>G - - CYBA_000063 - PubMed: Kulkarni 2018 - - Germline - - - - - DNA SEQ - - CGD Pat47 PubMed: Kulkarni 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
+/. - c.164C>G r.(?) p.(Pro55Arg) Both (homozygous) - pathogenic (recessive) g.88713548G>C g.88647140G>C - - CYBA_000062 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 2 affected - - Israel - - - - - 2 Johan den Dunnen
+/. 3 c.166dup r.(?) p.(Arg56ProfsTer157) Both (homozygous) - pathogenic (recessive) g.88713550dup g.88647142dup 166dupC - CYBA_000039 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB8Pat8 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.166dup r.(?) p.(Arg56ProfsTer157) Both (homozygous) - pathogenic (recessive) g.88713550dup g.88647142dup 166dupC - CYBA_000039 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB9Pat9 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.166dup r.(?) p.(Arg56ProfsTer157) Both (homozygous) - pathogenic (recessive) g.88713550dup g.88647142dup 166dupC - CYBA_000039 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB10Pat10 PubMed: Koker 2013 family, 2 affected F - Turkey - - - - - 2 Johan den Dunnen
+/. 3 c.166dup r.(?) p.(Arg56ProfsTer157) Both (homozygous) - pathogenic (recessive) g.88713550dup g.88647142dup 166dupC - CYBA_000039 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamB10Pat11 PubMed: Koker 2013 relative M - Turkey - - - - - 1 Johan den Dunnen
./. - c.167G>A r.(?) p.(Arg56Gln) Unknown - likely pathogenic g.88713545C>T g.88647137C>T NM_000101.3(CYBA):c.167G>A p.(Arg56Gln) - CYBA_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-703A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+/. - c.171dup r.(?) p.(Lys58GlufsTer155) Both (homozygous) - pathogenic (recessive) g.88713545dup g.88647137dup 171dupG - CYBA_000061 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 3 families, 10 affected - - Israel - - - - - 10 Johan den Dunnen
-?/. - c.179A>C r.(?) p.(Lys60Thr) Unknown - likely benign g.88713533T>G g.88647125T>G CYBA(NM_000101.2):c.179A>C (p.K60T) - CYBA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.179A>C r.(?) p.(Lys60Thr) Unknown - benign g.88713533T>G g.88647125T>G - - CYBA_000012 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179A>C r.(?) p.(Lys60Thr) Unknown - likely benign g.88713533T>G - CYBA(NM_000101.2):c.179A>C (p.K60T) - CYBA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203+5G>A r.spl? p.? Unknown - VUS g.88713504C>T g.88647096C>T CYBA(NM_000101.4):c.203+5G>A - CYBA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203+8T>C r.(=) p.(=) Unknown - benign g.88713501A>G g.88647093A>G CYBA(NM_000101.4):c.203+8T>C - CYBA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203+8T>C r.(?) p.(=) Unknown - benign g.88713501A>G g.88647093A>G - - CYBA_000004 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204-4C>A r.spl? p.? Unknown - likely benign g.88713250G>T - CYBA(NM_000101.2):c.204-4C>A - CYBA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.205G>T r.(?) p.(Gly69Ter) Both (homozygous) - pathogenic (recessive) g.88713245C>A g.88646837C>A - - CYBA_000060 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat70 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 4 c.205G>T r.(?) p.(Gly69Ter) Parent #2 - pathogenic (recessive) g.88713245C>A g.88646837C>A 153T>G;205T>G - CYBA_000060 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat73 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
-/. - c.214T>C r.(?) p.(Tyr72His) Unknown - benign g.88713236A>G g.88646828A>G CYBA(NM_000101.2):c.214T>C (p.Y72H), CYBA(NM_000101.4):c.214T>C (p.Y72H) - CYBA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.214T>C r.(?) p.(Tyr72His) Unknown - benign g.88713236A>G g.88646828A>G CYBA(NM_000101.2):c.214T>C (p.Y72H), CYBA(NM_000101.4):c.214T>C (p.Y72H) - CYBA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.214T>C r.(?) p.(Tyr72His) Unknown - benign g.88713236A>G g.88646828A>G 214C>T - CYBA_000003 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.214T>C r.(?) p.(Tyr72His) Paternal (inferred) - benign g.88713236A>G - - - CYBA_000003 - PubMed: Dinauer 1990 - - Germline - - - - - DNA SEQ - - CGD Pat2;Pat2 PubMed: Dinauer 1990, PubMed: Newburger 1994 4-generation family, 2 affected sisters F - United States - 11y - - - 2 Johan den Dunnen
-/. - c.226G>A r.(?) p.(Val76Met) Unknown - benign g.88713224C>T g.88646816C>T - - CYBA_000031 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235C>A r.(?) p.(Leu79Met) Unknown - benign g.88713215G>T g.88646807G>T - - CYBA_000030 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.237G>C r.(?) p.(Leu79=) Unknown - benign g.88713213C>G g.88646805C>G - - CYBA_000029 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Gly81=) Unknown - likely benign g.88713207C>T - CYBA(NM_000101.2):c.243G>A (p.G81=) - CYBA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.246del r.246del p.Phe83Leufs*108 Paternal (inferred) - pathogenic (recessive) g.88713206del g.88646798del 272delC - CYBA_000036 - PubMed: Dinauer 1990, PubMed: Newburger 1994 - - Germline - - - - - DNA SEQ - - CGD Pat2;Pat2 PubMed: Dinauer 1990, PubMed: Newburger 1994 4-generation family, 2 affected sisters F - United States - 11y - - - 2 Johan den Dunnen
+/. 4 c.246_273del r.(?) p.(Phe83SerfsTer99) Both (homozygous) - pathogenic (recessive) g.88713187_88713214del g.88646779_88646806del 246-273del28bp - CYBA_000058 - PubMed: Xu 2014, PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat33 PubMed: Xu 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/. - c.251_263del r.(?) p.(Thr84MetfsTer103) Parent #2 - pathogenic (recessive) g.88713189_88713201del g.88646781_88646793del 251_263del13bp - CYBA_000059 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam19Pat28 PubMed: Aygun 2020 2-generation family, 1 affected M no Turkey - - - - - 1 Johan den Dunnen
+/. - c.261C>A r.(?) p.(Tyr87Ter) Unknown - pathogenic g.88713189G>T g.88646781G>T - - CYBA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.268C>T r.(?) p.(Arg90Trp) Both (homozygous) - pathogenic (recessive) g.88713182G>A g.88646774G>A - - CYBA_000057 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat5 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 4 c.268C>T r.(?) p.(Arg90Trp) Both (homozygous) - pathogenic (recessive) g.88713182G>A g.88646774G>A - - CYBA_000057 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat10 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 4 c.268C>T r.(?) p.(Arg90Trp) Both (homozygous) - pathogenic (recessive) g.88713182G>A g.88646774G>A - - CYBA_000057 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat11 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 4 c.268C>T r.(?) p.(Arg90Trp) Both (homozygous) - pathogenic (recessive) g.88713182G>A g.88646774G>A - - CYBA_000057 - PubMed: Kulkarni 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat80 PubMed: Kulkarni 2018 patient F - India - - - - - 1 Johan den Dunnen
+/. - c.269G>A r.269g>a p.Arg90Gln Maternal (inferred) - pathogenic (recessive) g.88713181C>T g.88646773C>T 297G>A - CYBA_000037 - PubMed: Dinauer 1990, PubMed: Newburger 1994 - - Germline - - - - - DNA SEQ - - CGD Pat2;Pat2 PubMed: Dinauer 1990, PubMed: Newburger 1994 4-generation family, 2 affected sisters F - United States - 11y - - - 2 Johan den Dunnen
+/. 4 c.269G>A r.(?) p.(Arg90Gln) Both (homozygous) - pathogenic (recessive) g.88713181C>T g.88646773C>T - - CYBA_000037 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat4 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 4 c.269G>A r.(?) p.(Arg90Gln) Both (homozygous) - pathogenic (recessive) g.88713181C>T g.88646773C>T - - CYBA_000037 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat6 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 4 c.269G>A r.(?) p.(Arg90Gln) Both (homozygous) - pathogenic (recessive) g.88713181C>T g.88646773C>T - - CYBA_000037 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD CYBA_Pat12 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
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