Full data view for gene NCF2

Information The variants shown are described using the NM_000433.3 transcript reference sequence.

187 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     
+/. _1_2i c.-241_(257+1_258-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(183546843_183556029)_(183559705_?)del g.(183577708_183586894)_(183590570_?)del del ex1-2 - NCF2_000085 - PubMed: Kulkarni 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat92 PubMed: Kulkarni 2018 patient F - India - - - - - 1 Johan den Dunnen
+/. 1 c.172‐174delAAG r.(?) p.(Lys58del) Parent #1 - pathogenic (recessive) g.183559293_183559295del g.183590158_183590160del 172‐174delAAG - NCF2_000087 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB15 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - del in ex2 - NPHS2_000000 - PubMed: Kutukculer 2019 - - Germline - - - - - DNA SEQ - - CGD Pat3 PubMed: Kutukculer 2019 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.29G>A r.29g>a p.Trp10Ter Both (homozygous) - pathogenic (recessive) g.183559436C>T g.183590301C>T - - NCF2_000090 - PubMed: Martel 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Pat22 PubMed: Martel 2012 2-generation family, heterozygous carrier parents - - France - - - - - 1 Johan den Dunnen
-?/. - c.51G>A r.(?) p.(Ala17=) Unknown - likely benign g.183559414C>T g.183590279C>T NCF2(NM_000433.3):c.51G>A (p.A17=) - NCF2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.73G>A r.(?) p.(Ala25Thr) Both (homozygous) - pathogenic (recessive) g.183559392C>T g.183590257C>T - - NCF2_000089 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat17 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.73G>A r.(?) p.(Ala25Thr) Both (homozygous) - pathogenic (recessive) g.183559392C>T g.183590257C>T - - NCF2_000089 - PubMed: Kulkarni 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat77 PubMed: Kulkarni 2018 patient M - India - - - - - 1 Johan den Dunnen
-?/. - c.93C>T r.(?) p.(Ala31=) Unknown - likely benign g.183559372G>A g.183590237G>A NCF2(NM_000433.3):c.93C>T (p.A31=), NCF2(NM_001127651.3):c.93C>T (p.A31=) - NCF2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93C>T r.(?) p.(Ala31=) Unknown - likely benign g.183559372G>A - NCF2(NM_000433.3):c.93C>T (p.A31=), NCF2(NM_001127651.3):c.93C>T (p.A31=) - NCF2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94G>A r.(?) p.(Val32Ile) Unknown - likely benign g.183559371C>T - NCF2(NM_000433.3):c.94G>A (p.V32I) - NCF2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107A>C r.(?) p.(His36Pro) Unknown - likely benign g.183559358T>G g.183590223T>G NCF2(NM_000433.3):c.107A>C (p.H36P) - NCF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112C>T r.(?) p.(Arg38Trp) Unknown - VUS g.183559353G>A g.183590218G>A NCF2(NM_000433.3):c.112C>T (p.R38W) - NCF2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113G>A r.(?) p.(Arg38Gln) Unknown - VUS g.183559352C>T g.183590217C>T NCF2(NM_000433.3):c.113G>A (p.R38Q) - NCF2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.113G>A r.(?) p.(Arg38Gln) Unknown - benign g.183559352C>T g.183590217C>T - - NCF2_000037 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.125A>G r.(?) p.(Asn42Ser) Unknown - pathogenic g.183559340T>C g.183590205T>C - - NCF2_000009 submitted through SIB; ExPASy_065002 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 1 c.130G>C r.(?) p.(Gly44Arg) Unknown - pathogenic g.183559335C>G g.183590200C>G - - NCF2_000004 submitted through SIB; ExPASy_065004 PubMed: Yu et al (2008) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 1 c.130G>C r.(?) p.(Gly44Arg) Unknown - pathogenic g.183559335C>G g.183590200C>G - - NCF2_000005 submitted through SIB; ExPASy_065004 PubMed: Cross et al (2000) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 1 c.130G>T r.(?) p.(Gly44Cys) Unknown - pathogenic g.183559335C>A g.183590200C>A - - NCF2_000010 submitted through SIB; ExPASy_065003 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.137T>G r.(?) p.(Met46Arg) Both (homozygous) - pathogenic (recessive) g.183559328A>C g.183590193A>C - - NCF2_000088 - PubMed: Ying 2014, PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat136 PubMed: Ying 2014, PubMed: Wu 2017 - - - China - - - - - 1 Johan den Dunnen
+/. 2 c.137T>G r.(?) p.(Met46Arg) Both (homozygous) - pathogenic (recessive) g.183559328A>C g.183590193A>C - - NCF2_000088 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat163 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
-?/. - c.156C>T r.(?) p.(=) Unknown - likely benign g.183559309G>A - NCF2(NM_000433.3):c.156C>T (p.N52=) - NCF2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174+8G>C r.(=) p.(=) Unknown - likely benign g.183559283C>G g.183590148C>G NCF2(NM_001127651.3):c.174+8G>C - NCF2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194A>G r.(?) p.(Asn65Ser) Unknown - likely benign g.183556093T>C - NCF2(NM_000433.3):c.194A>G (p.N65S) - NCF2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196C>T r.(?) p.(Arg66*) Both (homozygous) - likely pathogenic g.183556091G>A g.183586956G>A NCF2 (NM_001127651.2; OMIM: 608515): c.196C>T; p.Arg66* (hom) (chronic granulomatous disease), ?/(RP) - NCF2_000047 homozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 6 patient 1 PubMed: Ehrenberg 2019 - M yes Israel - - - - - 1 LOVD
+/. 2 c.196C>T r.(?) p.(Arg66Ter) Parent #1 - pathogenic (recessive) g.183556091G>A g.183586956G>A - - NCF2_000047 - PubMed: Kulkarni 2018 - - Germline - - - - - DNA SEQ - - CGD Pat43 PubMed: Kulkarni 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - 1 Johan den Dunnen
+/. - c.196C>T r.(?) p.(Arg66Ter) Both (homozygous) - pathogenic (recessive) g.183556091G>A g.183586956G>A - - NCF2_000047 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 2 affected - - Israel - - - - - 2 Johan den Dunnen
+/. 1 c.196C>T r.(?) p.(Arg66Ter) Parent #1 - pathogenic (recessive) g.183556091G>A g.183586956G>A - - NCF2_000047 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB12 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 2 c.229C>T r.(?) p.(Arg77Ter) Both (homozygous) - pathogenic (recessive) g.183556058G>A g.183586923G>A - - NCF2_000086 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat10 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.229C>T r.(?) p.(Arg77Ter) Parent #2 - pathogenic (recessive) g.183556058G>A g.183586923G>A - - NCF2_000086 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat167 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Ter) Both (homozygous) - pathogenic (recessive) g.183556058G>A g.183586923G>A - - NCF2_000086 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD1Pat1 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Ter) Both (homozygous) - pathogenic (recessive) g.183556058G>A g.183586923G>A - - NCF2_000086 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD2Pat2 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/? 2 c.230G>A r.(?) p.(Arg77Gln) Unknown - pathogenic g.183556057C>T g.183586922C>T - - NCF2_000015 submitted through SIB; ExPASy_017388 PubMed: Noack et al (1999) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 2 c.233G>A r.(?) p.(Gly78Glu) Unknown - pathogenic g.183556054C>T g.183586919C>T - - NCF2_000017 submitted through SIB; ExPASy_008904 PubMed: de Boer et al (1994) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. 2 c.233G>A r.(?) p.(Gly78Glu) Both (homozygous) - pathogenic (recessive) g.183556054C>T g.183586919C>T - - NCF2_000017 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat76 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/? 2 c.235A>G r.(?) p.(Met79Val) Unknown - pathogenic g.183556052T>C g.183586917T>C - - NCF2_000007 submitted through SIB; ExPASy_065006; Polymorphism PubMed: Patiño et al (1999) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.235A>G r.(?) p.(Met79Val) Unknown - likely benign g.183556052T>C g.183586917T>C NCF2(NM_000433.3):c.235A>G (p.M79V) - NCF2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235A>G r.(?) p.(Met79Val) Unknown - benign g.183556052T>C g.183586917T>C - - NCF2_000007 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.257+1G>A r.spl p.(Ala59IlefsTer2) Both (homozygous) - pathogenic (recessive) g.183556029C>T g.183586894C>T - - NCF2_000084 - PubMed: Beghin 2018 - - Germline - - - - - DNA SEQ - - CGD Pat14 PubMed: Beghin 2018 - F - Italy - - - - - 1 Johan den Dunnen
+/. 2i_3i c.(257+1_258-1)_(366+1_367-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(183543757_183546733)_(183546843_183556029)del g.(183574622_183577598)_(183577708_183586894)del del ex3 - NCF2_000082 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat21 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.269G>A r.(?) p.(Arg90His) Parent #1 - pathogenic (recessive) g.74193642G>A g.74779296G>A - - NCF1_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CGD Pat15(N0169) PubMed: Li 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 3 c.278A>T r.(?) p.(Asp93Val) Parent #1 - pathogenic (recessive) g.183546822T>A g.183577687T>A - - NCF2_000083 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat166 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/? 3 c.279C>G r.(?) p.(Asp93Glu) Unknown - pathogenic g.183546821G>C g.183577686G>C - - NCF2_000001 submitted through SIB; ExPASy_065007 PubMed: Köker et al (2009) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. 4 c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - pathogenic (recessive) g.183546821G>C g.183577686G>C - - NCF2_000001 - PubMed: Raptaki 2013 - - Germline - - - - - DNA SEQ - - CGD PatV PubMed: Raptaki 2013 - M - Greece - - - - - 1 Johan den Dunnen
?/. 4 c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279C>G;IVS4+1G>C - NCF2_000001 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD3Pat3 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
?/. 4 c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279C>G;IVS4+1G>C - NCF2_000001 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD4Pat4 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
?/. 4 c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279C>G;IVS4+1G>C - NCF2_000001 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD5Pat5 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
?/. 4 c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279C>G;IVS4+1G>C - NCF2_000001 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD6Pat6 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
?/. 4 c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279C>G;IVS4+1G>C - NCF2_000001 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD7Pat7 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
?/. - c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279G>C;IVS4+1G>C - NCF2_000001 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam14Pat23 PubMed: Aygun 2020 2-generation family, 1 affected F yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.279C>G r.(?) p.(Asp93Glu) Both (homozygous) - VUS g.183546821G>C g.183577686G>C 279G>C;IVS4+1G>C - NCF2_000001 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam15Pat24 PubMed: Aygun 2020 2-generation family, 1 affected M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat20 PubMed: Wolach 2008, Journal: Wolach 2008 2-generation family, 4 affected (2F, 2M) M yes Israel Arab - - - - 4 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat21 PubMed: Wolach 2008, Journal: Wolach 2008 sib M yes Israel Arab - - - - 1 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat22 PubMed: Wolach 2008, Journal: Wolach 2008 cousin F yes Israel Arab - - - - 1 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat23 PubMed: Wolach 2008, Journal: Wolach 2008 cousin F yes Israel Arab - - - - 1 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat75 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 8 affected - - Israel - - - - - 8 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat164 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat165 PubMed: Zhou 2018 - - - China - - - - - 1 Johan den Dunnen
+/. 1 c.304C>T r.(?) p.(Arg102Ter) Parent #1 - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB14 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 1 c.304C>T r.(?) p.(Arg102Ter) Parent #2 - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD PatB12 PubMed: Gao 2019 2-generation family, 1 affected, unaffected parents - - China - - - - - 1 Johan den Dunnen
+/. 4 c.304C>T r.(?) p.(Arg102Ter) Both (homozygous) - pathogenic (recessive) g.183546796G>A g.183577661G>A - - NCF2_000058 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD8Pat8 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/? 3 c.305G>C r.(?) p.(Arg102Pro) Unknown - pathogenic g.183546795C>G g.183577660C>G - - NCF2_000011 submitted through SIB; ExPASy_065009 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 3 c.323A>T r.(?) p.(Asp108Val) Unknown - pathogenic g.183546777T>A g.183577642T>A - - NCF2_000003 submitted through SIB; ExPASy_065010 PubMed: Yu et al (2008) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.359C>A r.(?) p.(Ala120Asp) Unknown - VUS g.183546741G>T - NCF2(NM_000433.4):c.359C>A (p.A120D) - NCF2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364_366+2del r.spl p.? Both (homozygous) - pathogenic (recessive) g.183546734_183546738del g.183577599_183577603del 364_ 366+2delGAGGT - NCF2_000049 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.366+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.183546733C>T - 364+1G>A - NCF2_000050 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. 3i_4i c.367-599_502-548del r.? p.? Both (homozygous) - pathogenic (recessive) g.183542975_183544355del g.183573840_183575220del del ex5 - NCF2_000065 - PubMed: Gentsch 2010 - - Germline - - - - - DNA PCR, SEQ - - CGD Fam4Pat5 PubMed: Gentsch 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Pakistan - - - - - 1 Johan den Dunnen
+/. 3i_4i c.367-577_502-526del r.367_501del p.Val123_Trp167 Both (homozygous) - pathogenic (recessive) g.183542954_183544334del g.183573819_183575199del 366+2401_502-527del1380 - NCF2_000066 - PubMed: Gentsch 2010 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - CGD Fam1Pat1/2 PubMed: Gentsch 2010 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Lebanon - - - - - 2 Johan den Dunnen
+/. 3i_4i c.367-577_502-526del r.(367_501del) p.(Val123_Trp167) Both (homozygous) - pathogenic (recessive) g.183542954_183544334del g.183573819_183575199del 366+2401_502-527del1380 - NCF2_000066 - PubMed: Gentsch 2010 - - Germline yes - - - - DNA PCR, SEQ - - CGD Fam2Pat3 PubMed: Gentsch 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Lebanon - - - - - 1 Johan den Dunnen
+/. 3i_4i c.367-577_502-526del r.(367_501del) p.(Val123_Trp167) Both (homozygous) - pathogenic (recessive) g.183542954_183544334del g.183573819_183575199del 366+2401_502-527del1380 - NCF2_000066 - PubMed: Gentsch 2010 - - Germline yes - - - - DNA PCR, SEQ - - CGD Fam3Pat4 PubMed: Gentsch 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.367-18C>T r.(=) p.(=) Unknown - likely benign g.183543774G>A - NCF2(NM_000433.3):c.367-18C>T - NCF2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.383C>T r.(?) p.(Ala128Val) Unknown - pathogenic g.183543740G>A g.183574605G>A - - NCF2_000016 submitted through SIB; ExPASy_017389 PubMed: Noack et al (1999) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? 4 c.409T>A r.(?) p.(Trp137Arg) Unknown - pathogenic g.183543714A>T g.183574579A>T - - NCF2_000012 submitted through SIB; ExPASy_065011 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. 5 c.409T>A r.(?) p.(Trp137Arg) Both (homozygous) - pathogenic (recessive) g.183543714A>T g.183574579A>T - - NCF2_000012 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD9Pat9 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 5 c.410G>A r.(?) p.(Trp137Ter) Both (homozygous) - pathogenic (recessive) g.183543713C>T g.183574578C>T - - NCF2_000081 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD10Pat10 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 5 c.410G>A r.(?) p.(Trp137Ter) Both (homozygous) - pathogenic (recessive) g.183543713C>T g.183574578C>T - - NCF2_000081 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD11Pat11 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/? 4 c.419C>A r.(?) p.(Ala140Asp) Unknown - pathogenic g.183543704G>T g.183574569G>T - - NCF2_000018 submitted through SIB; ExPASy_065012 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. 4 c.419delC r.(?) p.(Ala140ValfsTer5) Both (homozygous) - pathogenic (recessive) g.183543704del g.183574569del - - NCF2_000080 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat19 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
-?/. - c.470C>T r.(?) p.(Ser157Phe) Unknown - likely benign g.183543653G>A g.183574518G>A NCF2(NM_001127651.3):c.470C>T (p.S157F) - NCF2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.475del r.(?) p.(Ile159SerfsTer18) Parent #2 - pathogenic (recessive) g.183543651del g.183574516del 475delA - NCF2_000079 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SSCA - - CGD Pat166 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected carrier mother - - China - - - - - 1 Johan den Dunnen
-/. - c.485C>T r.(?) p.(Ala162Val) Unknown - benign g.183543638G>A g.183574503G>A - - NCF2_000057 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279C>G;IVS4+1G>C - NCF2_000078 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD3Pat3 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 5i c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279C>G;IVS4+1G>C - NCF2_000078 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD4Pat4 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 5i c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279C>G;IVS4+1G>C - NCF2_000078 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD5Pat5 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 5i c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279C>G;IVS4+1G>C - NCF2_000078 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD6Pat6 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 5i c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279C>G;IVS4+1G>C - NCF2_000078 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamD7Pat7 PubMed: Koker 2013 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279G>C;IVS4+1G>C - NCF2_000078 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam15Pat24 PubMed: Aygun 2020 2-generation family, 1 affected M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.501+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543621C>G g.183574486C>G 279G>C;IVS4+1G>C - NCF2_000078 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam16Pat25 PubMed: Aygun 2020 2-generation family, 1 affected F yes Turkey - - - - - 1 Johan den Dunnen
+/. 5i c.501+1_501+8del r.spl p.? Both (homozygous) - pathogenic (recessive) g.183543614_183543621del g.183574479_183574486del 501+1_+8delGTAAGCGT - NCF2_000077 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat7 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 5i c.502-1G>T r.spl p.[Lys168_Gln223del,Val204_Gln223del] Both (homozygous) - pathogenic (recessive) g.183542428C>A g.183573293C>A - - NCF2_000076 - PubMed: Raptaki 2013 - - Germline - - - - - DNA SEQ - - CGD PatW PubMed: Raptaki 2013 2-generation family, 2 affected, unaffected parents M - Greece - - - - - 2 Johan den Dunnen
+/. 5i c.502-1G>T r.spl p.[Lys168_Gln223del,Val204_Gln223del] Both (homozygous) - pathogenic (recessive) g.183542428C>A g.183573293C>A - - NCF2_000076 - PubMed: Raptaki 2013 - - Germline - - - - - DNA SEQ - - CGD PatX PubMed: Raptaki 2013 relative M - Greece - 14y - - - 1 Johan den Dunnen
+/? 5 c.505C>G r.(?) p.(Gln169Glu) Unknown - pathogenic g.183542424G>C g.183573289G>C - - NCF2_000013 submitted through SIB; ExPASy_065013 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.542A>G r.(?) p.(Lys181Arg) Unknown - benign g.183542387T>C g.183573252T>C NCF2(NM_000433.4):c.542A>G (p.K181R) - NCF2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.542A>G r.(?) p.(Lys181Arg) Unknown - benign g.183542387T>C g.183573252T>C - - NCF2_000027 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.550C>T r.(?) p.(Arg184Ter) Both (homozygous) - pathogenic (recessive) g.183542379G>A g.183573244G>A - - NCF2_000075 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat18 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 5 c.550C>T r.(?) p.(Arg184Ter) Both (homozygous) - pathogenic (recessive) g.183542379G>A g.183573244G>A - - NCF2_000075 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF2-Pat20 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 5 c.550C>T r.(?) p.(Arg184Ter) Both (homozygous) - pathogenic (recessive) g.183542379G>A g.183573244G>A - - NCF2_000075 - PubMed: Kulkarni 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat60 PubMed: Kulkarni 2018 patient F - India - - - - - 1 Johan den Dunnen
+/. 5 c.550C>T r.(?) p.(Arg184Ter) Both (homozygous) - pathogenic (recessive) g.183542379G>A g.183573244G>A - - NCF2_000075 - PubMed: Kulkarni 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat117 PubMed: Kulkarni 2018 patient M - India - - - - - 1 Johan den Dunnen
+/. - c.550C>T r.(?) p.(Arg184Ter) Both (homozygous) - pathogenic (recessive) g.183542379G>A g.183573244G>A - - NCF2_000075 - PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat43 PubMed: Wu 2017 - M - China - - - - - 1 Johan den Dunnen
+/? 5 c.551G>C r.(?) p.(Arg184Pro) Unknown - pathogenic g.183542378C>G g.183573243C>G - - NCF2_000014 submitted through SIB; ExPASy_065014 PubMed: Roos et al (2010) - - Unknown - - - - - DNA SEQ - - CGD2 - - - - - - - - - - - 1 SIB - Livia Famiglietti
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