Unique variants in the NCF1 gene

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

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.66G>C r.(?) p.(Gln22His) - benign g.74188444G>C g.74774097G>C - - NCF1_000031 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
+/. 1 - 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 - - - - - Johan den Dunnen
+/. 1 - 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 - - - - - Johan den Dunnen
-/. 1 - c.73G>A r.(?) p.(Val25Met) - benign g.74191613G>A g.74777267G>A - - NCF1_000034 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
+/., ?/. 73 - c.75_76del r.(?), r.75_76del p.(Tyr26Hisfs*26), p.(Tyr26HisfsTer26), p.Tyr26Hisfs*26 - pathogenic, pathogenic (recessive), VUS g.74191615_74191616del g.74777269_74777270del 75_76delGT, NCF1(NM_000265.6):c.75_76delGT (p.Y26Hfs*26) - NCF1_000013 VKGL data sharing initiative Nederland PubMed: Jurkowska 2004, PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008, 5 more items - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - 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
-/. 1 - c.124C>T r.(?) p.(Arg42Trp) - benign g.74191664C>T g.74777318C>T - - NCF1_000035 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
+/. 3 - c.125G>A r.(?) p.(Arg42Gln) - pathogenic (recessive) g.74191665G>A g.74777319G>A - - NCF1_000036 combination of alleles not mentioned PubMed: Noack 2001, Journal: Noack 2001, PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - 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
+/. 1 - 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 - - - - - Johan den Dunnen
+/. 1 - 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 - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - 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 PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-/. 1 - c.268C>T r.(?) p.(Arg90Cys) - benign g.74193641C>T g.74779295C>T - - NCF1_000039 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-/., ?/. 3 - c.269G>A r.(?) p.(Arg90His) - benign, VUS g.74193642G>A g.74779296G>A NCF1(NM_000265.5):c.269G>A (p.R90H) - NCF1_000003 VKGL data sharing initiative Nederland PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - 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 - - - - - Johan den Dunnen
-/., ?/. 5 - c.292T>G r.(?) p.(Cys98Gly) - benign, 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 PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.295A>G r.(?) p.(Ser99Gly) - benign g.74193668= g.74779322A>G - - NCF1_000041 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
?/. 1 - c.295G>A r.295g>a p.Gly99Ser - VUS g.74193668G>A - - - NCF1_000005 - PubMed: Jakobsen 2009, Journal: Jakobsen 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.333T>A c.333t>a p.(Cys111Ter) - pathogenic (recessive) g.74193706T>A g.74779360T>A - - NCF1_000042 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 - c.345C>T r.(=), r.(?) p.(Leu115=) - benign, likely benign g.74193718C>T g.74779372C>T NCF1(NM_000265.5):c.345C>T (p.L115=), NCF1(NM_000265.6):c.345C>T (p.L115=) - NCF1_000006 VKGL data sharing initiative Nederland PubMed: Noack 2001, Journal: Noack 2001, PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.353_354del r.(?) p.(Phe118*) - pathogenic (recessive) g.74193726_74193727del g.74779380_74779381del Phe118stop - NCF1_000030 - PubMed: Jurkowska 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.353_354delinsAA r.353_354delinsaa p.(Phe118Ter) - pathogenic (recessive) g.74193726_74193727delinsAA g.74779380_74779381delinsAA - - NCF1_000043 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.417_451+650del r.spl p.? - pathogenic (recessive) g.74195147_74195831del g.74780801_74781485del c.417_451+650del685 - NCF1_000044 combination of alleles not mentioned PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.446C>A r.(?) p.(Ala149Glu) - benign g.74195176C>A g.74780830C>A - - NCF1_000045 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.468C>T r.(?) p.(Ile156=) - benign g.74197298C>T g.74782955C>T - - NCF1_000046 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-?/. 1 - c.480G>A r.(?) p.(Thr160=) - likely benign g.74197310G>A - NCF1(NM_000265.6):c.480G>A (p.T160=) - NCF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.486C>T r.(?) p.(Arg162=) - likely benign g.74197316C>T - NCF1(NM_000265.5):c.486C>T (p.R162=) - NCF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.496A>G r.(?) p.(Asn166Asp) - benign, likely benign g.74197326A>G g.74782983A>G NCF1(NM_000265.5):c.496A>G (p.N166D), NCF1(NM_000265.6):c.496A>G (p.N166D) - NCF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.502del r.502del p.Glu168ArgfsTer19 - pathogenic (recessive) g.74197332del g.74782989del 502delG - NCF1_000026 - PubMed: Volpp 1993, Journal: Volpp 1993 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.512C>T r.(?) p.(Ser171Leu) - VUS g.74197342C>T g.74782999C>T NCF1(NM_000265.5):c.512C>T (p.S171L) - NCF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.558A>G r.(?) p.(Val186=) - benign, likely benign g.74197388A>G g.74783045A>G NCF1(NM_000265.6):c.558A>G (p.V186=) - NCF1_000047 VKGL data sharing initiative Nederland PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Utrecht
+/. 3 - c.574G>A r,spl, r.[452_800del,553_574del,574g>a;574_575ins574+1_575-1] p.(Gly192Ser), p.? - pathogenic (recessive) g.74197404G>A g.74783061G>A - - NCF1_000048 - PubMed: Noack 2001, Journal: Noack 2001, PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.574+194T>A r.(=) p.(=) - benign g.74197598T>A g.74783255T>A NCF1(NM_000265.6):c.574+194T>A - NCF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 15 - c.579G>A r,spl, r.(?), r.579g>a p.(Trp193Ter), p.Trp193* - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 combination of alleles not mentioned, not speficied variant at splice site intron 2 PubMed: de Boer 2002, Journal: de Boer 2002, PubMed: Roos 2006, Journal: Roos 2006, 2 more items - - Germline - - - - - Johan den Dunnen
+/. 1 - c.604C>T r.(?) p.(Arg202Ter) - pathogenic (recessive) g.74197897C>T g.74783554C>T - - NCF1_000049 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.612G>A r.612g>a p.Trp204* - pathogenic (recessive) g.74197905G>A - - - NCF1_000028 - PubMed: Jakobsen 2009, Journal: Jakobsen 2009 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.621G>A r.(?) p.(Ala207=) - benign, likely benign g.74197914G>A g.74783571G>A NCF1(NM_000265.6):c.621G>A (p.A207=) - NCF1_000011 VKGL data sharing initiative Nederland PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Utrecht
-?/. 1 - c.657G>C r.(?) p.(Thr219=) - likely benign g.74197950G>C - NCF1(NM_000265.5):c.657G>C (p.T219=) - NCF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.678T>G r.(?) p.(Tyr226Ter) - pathogenic (recessive) g.74197971T>G g.74783628T>G - - NCF1_000050 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.682+1G>C r.575_682del p.? - pathogenic (recessive) g.74197976G>C g.74783633G>C - - NCF1_000051 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.730G>A r.(?) p.(Glu244Lys) - pathogenic (recessive) g.74199575G>A g.74785229G>A - - NCF1_000052 combination of alleles not mentioned PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.734_748del r.(?) p.(Val245_Glu249del) - pathogenic (recessive) g.74199579_74199593del g.74785233_74785247del c.734_748del15 - NCF1_000053 combination of alleles not mentioned PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.769C>T r.(?) p.(His257Tyr) - VUS g.74199614C>T g.74785268C>T NCF1(NM_000265.5):c.769C>T (p.H257Y) - NCF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.784G>A r.(?) p.(Gly262Ser) - pathogenic (recessive) g.74199629G>A g.74785283G>A - - NCF1_000054 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.789G>C r.(?) p.(Trp263Cys) - pathogenic (recessive) g.74199634G>C g.74785288G>C - - NCF1_000055 combination of alleles not mentioned PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.811del r.(?) p.(Val271SerfsTer105) - pathogenic (recessive) g.74202338del g.74787994del 811delG - NCF1_000056 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.825C>T r.(?) p.(Phe275=) - benign g.74202352C>T g.74788008C>T - - NCF1_000022 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
+/. 1 - c.838del r.838del p.Leu280Cysfs*96 - pathogenic (recessive) g.74202365del g.74788021del 837delC - NCF1_000027 - PubMed: van de Vosse 2009, Journal: van de Vosse 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.849A>G r.(?) p.(Ser283=) - benign g.74202376A>G g.74788032A>G - - NCF1_000023 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-/., -?/. 3 - c.936C>T r.(?) p.(His312=) - benign, likely benign g.74202933C>T g.74788589C>T NCF1(NM_000265.5):c.936C>T (p.H312=), NCF1(NM_000265.6):c.936C>T (p.H312=) - NCF1_000015 VKGL data sharing initiative Nederland PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.951G>C r.(?) p.(Lys317Asn) - benign g.74202948G>C g.74788604G>C - - NCF1_000024 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
?/. 1 - c.1039G>A r.(?) p.(Gly347Arg) - VUS g.74203036G>A - NCF1(NM_000265.5):c.1039G>A (p.G347R) - NCF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1046C>A r.(?) p.(Pro349Gln) - likely benign g.74203043C>A - NCF1(NM_000265.5):c.1046C>A (p.P349Q) - NCF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.*55C>T r.(=) p.(=) - likely benign g.74203559C>T - 1228C>T - NCF1_000029 - PubMed: Jakobsen 2009, Journal: Jakobsen 2009 - - Germline - - - - - Johan den Dunnen
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