GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NCF1 Y26Shiftpathogenicrecessive

Causes chronic granulomatous disease in a recessive manner. Recorded in ClinVar by OMIM and GeneReviews (www.ncbi.nlm.nih.gov/clinvar/RCV000002337/). Several publications support this variant as causal, including Noack et al 2001 (PMID: 11133775) which reports that 97% of patients with the A47 subtype of this disease carry this variant.

NCF1 R42Qinsufficiently evaluated pathogenicunknown

(10 web hits)

NCF1 R90Hinsufficiently evaluated not reviewed, f=0.025unknown hu34D5B9 exome
CGI sample GS00253-DNA_B01_200_37
var-GS18947-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
NCF1 Q91Xinsufficiently evaluated pathogenicunknown

(5 web hits)

NCF1 G99Sinsufficiently evaluated none, f=0.492unknown hu3215A7 build 36 substitution variants (hom)
hu34D5B9 exome
hu232307 build 36 substitution variants (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
NCF1 C111Xinsufficiently evaluated pathogenicunknown

(4 web hits)

NCF1 G192Sinsufficiently evaluated pathogenicunknown

(5 web hits)

NCF1C H66Rinsufficiently evaluated not reviewedunknown

NCF1C is a pseudogene; sequence variation has no consequence.

CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
NCF1C T76Minsufficiently evaluated not reviewedunknown

NCF1C is a pseudogene; sequence variation has no consequence.

hu232307 build 36 substitution variants
NCF1C D142Ninsufficiently evaluated not reviewedunknown

NCF1C is a pseudogene; sequence variation has no consequence.

CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_A07 from PGP sample 96240009
Total results: 10

Gene search

"GENE" or "GENE A123C":

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