All variants in the NCF1 gene

Information The variants shown are described using the NM_000265.5 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.66G>C r.(?) p.(Gln22His) - benign g.74188444G>C g.74774097G>C - - NCF1_000031 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. - c.72+1G>A r,spl p.? - pathogenic (recessive) g.74188451G>A g.74774104G>A IVS1+1G>A - NCF1_000032 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.72+3G>T r,spl p.? - pathogenic (recessive) g.74188453G>T g.74774106G>T IVS1+3G>T - NCF1_000033 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
-/. - c.73G>A r.(?) p.(Val25Met) - benign g.74191613G>A g.74777267G>A - - NCF1_000034 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic g.74191615_74191616del g.74777269_74777270del NCF1(NM_000265.6):c.75_76delGT (p.Y26Hfs*26) - NCF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - VUS g.74191615_74191616del - NCF1(NM_000265.6):c.75_76delGT (p.Y26Hfs*26) - NCF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.75_76del p.Tyr26Hisfs*26 - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Volpp 1993, Journal: Volpp 1993 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.75_76del p.Tyr26Hisfs*26 - pathogenic (recessive) g.74191615_74191616del - - - NCF1_000013 - PubMed: Volpp 1993, Journal: Volpp 1993 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) - pathogenic (recessive) g.74191615_74191616del - - - NCF1_000013 - PubMed: van de Vosse 2009, Journal: van de Vosse 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Jurkowska 2004 - - Germline - - - 0 - Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) - pathogenic (recessive) g.74191615_74191616del - - - NCF1_000013 - PubMed: Jurkowska 2004 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.108G>A r.(?) p.(Ser36=) - likely benign g.74191648G>A - NCF1(NM_000265.5):c.108G>A (p.S36=) - NCF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.124C>T r.(?) p.(Arg42Trp) - benign g.74191664C>T g.74777318C>T - - NCF1_000035 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. - c.125G>A r.(?) p.(Arg42Gln) - pathogenic (recessive) g.74191665G>A g.74777319G>A - - NCF1_000036 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.125G>A r.(?) p.(Arg42Gln) - pathogenic (recessive) g.74191665G>A g.74777319G>A - - NCF1_000036 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.125G>A r.(?) p.(Arg42Gln) - pathogenic (recessive) g.74191665G>A g.74777319G>A - - NCF1_000036 combination of alleles not mentioned PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.151C>T r.(?) p.(His51Tyr) - VUS g.74191691C>T g.74777345C>T NCF1(NM_000265.5):c.151C>T (p.H51Y) - NCF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.153+1G>A r.153_154ins[a;153+2_153+73] p.? - pathogenic (recessive) g.74191694G>A g.74777348G>A - - NCF1_000037 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.154-285_451+821del r.154_451del p.Lys52ThrfsTer36 - pathogenic (recessive) g.74193144_74196003del g.74778798_74781657del 154-285_451+821del2860 - NCF1_000038 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
-/. - c.210G>C r.(?) p.(Arg70Ser) - benign g.74193484G>C g.74779138G>C NCF1(NM_000265.5):c.210G>C (p.R70S) - NCF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.247G>A r.(?) p.(Gly83Arg) - benign g.74193620G>A g.74779274G>A NCF1(NM_000265.5):c.247G>A (p.G83R) - NCF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.247G>A r.(?) p.(Gly83Arg) - benign g.74193620G>A g.74779274G>A - - NCF1_000002 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
-/. - c.268C>T r.(?) p.(Arg90Cys) - benign g.74193641C>T g.74779295C>T - - NCF1_000039 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
?/. - c.269G>A r.(?) p.(Arg90His) - VUS g.74193642G>A g.74779296G>A NCF1(NM_000265.5):c.269G>A (p.R90H) - NCF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.269G>A r.(?) p.(Arg90His) - VUS g.74193642G>A g.74779296G>A NCF1(NM_000265.5):c.269G>A (p.R90H) - NCF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.269G>A r.(?) p.(Arg90His) - benign g.74193642G>A g.74779296G>A - - NCF1_000003 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. - c.271C>T r.271c>u p.(Gln91Ter) - pathogenic (recessive) g.74193644C>T g.74779298C>T - - NCF1_000040 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - 0 - Johan den Dunnen
?/. - c.292T>G r.(?) p.(Cys98Gly) - VUS g.74193665T>G g.74779319T>G NCF1(NM_000265.5):c.292T>G (p.C98G), NCF1(NM_000265.6):c.292T>G (p.C98G) - NCF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.292T>G r.(?) p.(Cys98Gly) - VUS g.74193665T>G g.74779319T>G NCF1(NM_000265.5):c.292T>G (p.C98G), NCF1(NM_000265.6):c.292T>G (p.C98G) - NCF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.292T>G r.(?) p.(Cys98Gly) - VUS g.74193665T>G - NCF1(NM_000265.5):c.292T>G (p.C98G), NCF1(NM_000265.6):c.292T>G (p.C98G) - NCF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.292T>G r.(?) p.(Cys98Gly) - benign g.74193665T>G g.74779319T>G - - NCF1_000004 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
?/. - c.292T>G r.(?) p.(Cys98Gly) - VUS g.74193665T>G - NCF1(NM_000265.5):c.292T>G (p.C98G), NCF1(NM_000265.6):c.292T>G (p.C98G) - NCF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.295= r.(=) p.(Ser99=) - benign g.74193668G>A g.74779322G>A NCF1(NM_000265.6):c.295G>A (p.G99S) - NCF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.295A>G r.(?) p.(Ser99Gly) - benign g.74193668= g.74779322A>G - - NCF1_000041 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - 0 - Johan den Dunnen
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