Unique variants in the NCF4 gene

Information The variants shown are described using the NM_000631.4 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.? r.(?) p.(?) - benign g.? - 815C>T (P272L), 815G>A (P272L) - NCF4_000000 - PubMed: Roos 2021, Journal: Roos 2021, PubMed: Lee 2006, Journal: Lee 2006 - - SUMMARY record - - - - - Johan den Dunnen
?/. 1 - c.28G>A r.(?) p.(Glu10Lys) - VUS g.37257241G>A g.36861199G>A NCF4(NM_013416.3):c.28G>A (p.E10K) - NCF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.32+2T>G r.spl p.? - pathogenic (recessive) g.37257247T>G g.36861205T>G - - NCF4_000030 - PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.32+1258T>G r.(?) p.(=) - benign g.37258503T>G g.36862461T>G - - NCF4_000031 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.33-1101C>T r.(?) p.(=) - benign g.37258986C>T g.36862944C>T - - NCF4_000032 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.33-728T>C r.(?) p.(=) - benign g.37259359T>C g.36863317T>C - - NCF4_000033 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-?/. 1 - c.33-6G>A r.(=) p.(=) - likely benign g.37260081G>A g.36864039G>A NCF4(NM_013416.3):c.33-6G>A - NCF4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.50C>T r.(?) p.(Pro17Leu) - likely pathogenic g.37260104C>T - NCF4(NM_013416.4):c.50C>T (p.P17L) - NCF4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.58G>A r.(?) p.(Val20Ile) - likely benign g.37260112G>A - NCF4(NM_013416.3):c.58G>A (p.V20I) - NCF4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.63C>T r.(=) p.(Ala21=) - benign g.37260117C>T g.36864075C>T - - NCF4_000028 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.69G>A r.(=) p.(Ser23=) - benign g.37260123G>A g.36864081G>A - - NCF4_000029 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.87C>T r.(?) p.(Ile29=) - benign g.37260141C>T g.36864099C>T - - NCF4_000034 - PubMed: Roos 2021, Journal: Roos 2021 - rs13057803 SUMMARY record - - - - - Johan den Dunnen
?/. 1 - c.88G>A r.(?) p.(Glu30Lys) - VUS g.37260142G>A g.36864100G>A NCF4(NM_013416.3):c.88G>A (p.E30K) - NCF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.118-360A>G r.(?) p.(=) - benign g.37260601A>G g.36864559A>G - - NCF4_000035 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
+/. 4 - c.118-1G>A r.[33_270del,33_341del,118_198del] p.? - pathogenic (recessive) g.37260960G>A g.36864918G>A - - NCF4_000036 - PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.120_134del c.[120_134del,?] p.[Phe41_Val45del,?] - pathogenic (recessive) g.37260963_37260977del g.36864921_36864935del - - NCF4_000026 - PubMed: van de Geer 2018 - - Germline, Uniparental disomy, paternal allele - - - - - Johan den Dunnen
+/. 1 - c.143_152dup r.143_152dup p.Lys52Argfs*79 - pathogenic (recessive) g.37260986_37260995dup g.36864944_36864953dup 3957_3966dup - NCF4_000024 - PubMed: Matute 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.172C>T r.(?) p.(Arg58Cys) - pathogenic (recessive) g.37261015C>T g.36864973C>T - - NCF4_000037 - PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.178C>T r.(?) p.(Arg60Cys) - likely benign g.37261021C>T g.36864979C>T NCF4(NM_013416.3):c.178C>T (p.R60C) - NCF4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.179G>A r.(?) p.(Arg60His) - pathogenic g.37261022G>A - 174G>A (Arg60His) - NCF4_000027 - PubMed: Wright 2019 - rs36984756 Germline - - - - - Johan den Dunnen
?/. 1 - c.202A>G r.(?) p.(Lys68Glu) - VUS g.37261045A>G g.36865003A>G NCF4(NM_013416.3):c.202A>G (p.K68E) - NCF4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.254C>A r.(?) p.(Thr85Asn) - benign, likely benign g.37261097C>A g.36865055C>A NCF4(NM_013416.3):c.254C>A (p.T85N) - NCF4_000019 VKGL data sharing initiative Nederland PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 2 - c.271+7G>A r.(=) p.(=) - likely benign g.37261121G>A g.36865079G>A NCF4(NM_013416.3):c.271+7G>A - NCF4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 2 - c.314G>A r.(?), r.314g>a p.(Arg105Gln), p.Arg105Gln - pathogenic (recessive) g.37263476G>A g.36867434G>A 6447G>A - NCF4_000025 - PubMed: Matute 2009, PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.342+202C>G r.(?) p.(=) - benign g.37263706C>G g.36867664C>G - - NCF4_000038 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.342+342T>G r.(?) p.(=) - benign g.37263846T>G g.36867804T>G - - NCF4_000039 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.342+1326A>G r.(?) p.(=) - benign g.37264830A>G g.36868788A>G - - NCF4_000040 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.343-1378G>A r.(?) p.(=) - benign g.37265079G>A g.36869037G>A - - NCF4_000041 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.343-339G>A r.(?) p.(=) - benign g.37266118G>A g.36870076G>A - - NCF4_000042 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-?/. 2 - c.343-4A>G r.spl? p.? - likely benign g.37266453A>G g.36870411A>G NCF4(NM_013416.3):c.343-4A>G - NCF4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.353G>A r.(?) p.(Ser118Asn) - benign g.37266467G>A g.36870425G>A - - NCF4_000043 - PubMed: Roos 2021, Journal: Roos 2021 - rs9610595 SUMMARY record - - - - - Johan den Dunnen
-?/. 2 - c.384C>T r.(?) p.(Asp128=) - likely benign g.37266498C>T g.36870456C>T NCF4(NM_013416.3):c.384C>T (p.D128=) - NCF4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.390G>A r.(?) p.(Arg130=) - likely benign g.37266504G>A g.36870462G>A NCF4(NM_013416.3):c.390G>A (p.R130=) - NCF4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.430C>A r.(?) p.(Pro144Thr) - pathogenic (recessive) g.37266544C>A g.36870502C>A - - NCF4_000044 - PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.451C>T r.(?) p.(Arg151Cys) - benign g.37266565C>T g.36870523C>T - - NCF4_000045 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
-/. 2 - c.478G>A r.(?) p.(Val160Met) - benign g.37267701G>A g.36871659G>A NCF4(NM_013416.3):c.478G>A (p.V160M) - NCF4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 3 - c.528+16A>G r.(=), r.(?) p.(=) - benign g.37267767A>G g.36871725A>G NCF4(NM_013416.4):c.528+16A>G - NCF4_000005 VKGL data sharing initiative Nederland PubMed: Roos 2010, Journal: Roos 2010, PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Groningen
-/. 1 - c.529-112C>T r.(=) p.(=) - benign g.37268257C>T g.36872215C>T NCF4(NM_013416.4):c.529-112C>T - NCF4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.532C>T r.(?) p.(=) - likely benign g.37268372C>T - NCF4(NM_013416.3):c.532C>T (p.L178=) - NCF4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.627+711A>G r.(?) p.(=) - benign g.37269178A>G g.36873136A>G - - NCF4_000046 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.627+1040T>G r.(?) p.(=) - benign g.37269507T>G g.36873465T>G - - NCF4_000047 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.628-1193A>G r.(?) p.(=) - benign g.37270502A>G g.36874460A>G - - NCF4_000048 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.647C>T r.(?) p.(Thr216Met) - benign g.37271714C>T g.36875672C>T - - NCF4_000049 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - Johan den Dunnen
?/. 1 - c.648G>A r.(?) p.(Thr216=) - VUS g.37271715G>A - NCF4(NM_013416.3):c.648G>A (p.T216=) - NCF4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.716G>A r.(?) p.(Trp239Ter) - pathogenic (recessive) g.37271783G>A g.36875741G>A - - NCF4_000050 - PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.735C>T r.(=), r.(?) p.(Tyr245=) - benign g.37271802C>T g.36875760C>T NCF4(NM_013416.4):c.735C>T (p.Y245=) - NCF4_000007 VKGL data sharing initiative Nederland PubMed: Roos 2021, Journal: Roos 2021 - - CLASSIFICATION record, SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Groningen
-?/. 1 - c.758+32G>A r.(=) p.(=) - likely benign g.37271857G>A g.36875815G>A NCF4(NM_013416.3):c.790G>A (p.A264T) - NCF4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.758+51G>A r.(=) p.(=) - likely benign g.37271876G>A - NCF4(NM_013416.3):c.809G>A (p.R270Q) - NCF4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.758+57T>A r.(?) p.(=) - benign g.37271882T>A g.36875840T>A - - NCF4_000051 - PubMed: Roos 2010, Journal: Roos 2010 - - SUMMARY record - - - - - Johan den Dunnen
-/. 1 - c.758+57T>C r.(=) p.(=) - benign g.37271882T>C g.36875840T>C NCF4(NM_013416.4):c.815T>C (p.L272P) - NCF4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.759-88T>C r.(=) p.(=) - likely benign g.37271983T>C g.36875941T>C NCF4(NM_013416.3):c.916T>C (p.W306R) - NCF4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.759-7C>A r.(=) p.(=) - likely benign g.37272064C>A - NCF4(NM_013416.3):c.997C>A (p.P333T) - NCF4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.759-1G>C r.([758_759ins[759-37_759-2;c],758_759ins[758+1_759-2;c],758_759ins[759-16_759-2;c]]) p.? - pathogenic (recessive) g.37272070G>C g.36876028G>C - - NCF4_000052 effect on splicing predicted from in vitro mini-gene splicing assay PubMed: van de Geer 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.798A>G r.(?) p.(Leu266=) - likely benign g.37272110A>G g.36876068A>G NCF4(NM_013416.3):c.1043A>G (p.Y348C) - NCF4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.824+20G>C r.(=) p.(=) - likely benign g.37272156G>C g.36876114G>C NCF4(NM_013416.3):c.*22+20G>C - NCF4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.851C>T r.(?) p.(Ala284Val) - VUS g.37273696C>T g.36877654C>T NCF4(NM_000631.5):c.851C>T (p.A284V) - NCF4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.897G>A r.(?) p.(Ser299=) - benign g.37273742G>A g.36877700G>A NCF4(NM_000631.5):c.897G>A (p.S299=) - NCF4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.906C>T r.(?) p.(Asp302=) - likely benign g.37273751C>T - NCF4(NM_000631.5):c.906C>T (p.D302=) - NCF4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.907G>A r.(?) p.(Val303Ile) - VUS g.37273752G>A - NCF4(NM_000631.5):c.907G>A (p.V303I) - NCF4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.911C>A r.(?) p.(Ala304Glu) - benign g.37273756C>A g.36877714C>A - - NCF4_000053 - PubMed: Lee 2006, Journal: Lee 2006 - rs5995361 SUMMARY record - - - - - Johan den Dunnen
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