GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
UNC13D A59Tuncertain benign, f=0.017unknown

Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.

(1 web hit)

CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_H01_200_37 (hom)
UNC13D T76Minsufficiently evaluated none, f=0.003unknown
UNC13D G148Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
UNC13D M204Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS20502-1100-36-ASM
UNC13D R256Xinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

UNC13D I283Vinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS00253-DNA_B02_200_37
UNC13D L302Finsufficiently evaluated none, f=0.012unknown
UNC13D T314Xinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
UNC13D P329Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
UNC13D S401Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
UNC13D L403Pinsufficiently evaluated pathogenicunknown

(1 web hit)

UNC13D I410Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
UNC13D L492Minsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_G01_200_37
UNC13D R527Winsufficiently evaluated not reviewed, f=0.018unknown

(1 web hit)

var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
UNC13D I712Minsufficiently evaluated not reviewedunknown
UNC13D V779Linsufficiently evaluated not reviewedunknown
UNC13D V779Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
UNC13D F857Cinsufficiently evaluated pathogenicunknown

(4 web hits)

UNC13D G863Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
UNC13D K867Einsufficiently evaluated none, f=0.496unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
UNC13D L911Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
UNC13D R928Cuncertain benign, f=0.016undefined

This variant was seen, along with other variants, in two cases of haemophagocytic lymphohistiocytosis — however, the variant frequency in these cases does not significantly differ from later reported frequency of the variant in exome sequencing data (1.4%). If the variant were causal it would be significantly enriched in cases; instead, it is likely a polymorphism unrelated to the disease in these patients.

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_A07 from PGP sample 96240009
UNC13D R928Hinsufficiently evaluated not reviewed, f=0.001unknown
UNC13D N943Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
var-GS19834-1100-36-ASM
UNC13D R966Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
UNC13D R1061Qinsufficiently evaluated none, f=0.008unknown var-GS18517-1100-36-ASM
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Total results: 26

Gene search

"GENE" or "GENE A123C":

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