GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
STXBP2 R122Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
STXBP2 R187Cinsufficiently evaluated not reviewedunknown
STXBP2 R189Hinsufficiently evaluated not reviewedunknown
STXBP2 R190Cpathogenic, f=0.000recessive

Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause familial hemophagocytic lymphohistiocytosis (a severe disorder that manifests in childhood).

CGI sample GS00253-DNA_F01_200_37
STXBP2 R192Hinsufficiently evaluated not reviewedunknown
STXBP2 L209Pinsufficiently evaluated pathogenicunknown
STXBP2 P334Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
STXBP2 T342Minsufficiently evaluated noneunknown
STXBP2 T345Minsufficiently evaluated none, f=0.011unknown var-GS06994-1100-36-ASM
STXBP2 P477Linsufficiently evaluated pathogenicunknown

(2 web hits)

STXBP2 I523Vinsufficiently evaluated noneunknown
STXBP2 R526Pinsufficiently evaluated noneunknown
STXBP2 I526Vinsufficiently evaluated none, f=0.675unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
STXBP2 R529Pinsufficiently evaluated none, f=0.002unknown
STXBP2 R555Ginsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_B01 from PGP sample 86206034
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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