GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CASP10 M147Tinsufficiently evaluated pathogenicunknown

(2 web hits)

CASP10 I185Rlikely pathogenic, f=0.008dominant

No reports for this variant, predicted to be damaging by Polyphen 2. Other damaging variants in this gene are reported to cause autoimmune lymphoproliferative syndrome.

(1 web hit)

CGI sample GS00253-DNA_H01_200_37
CASP10 S239Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CASP10 Q257Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CASP10 L285Finsufficiently evaluated pathogenic, f=0.000unknown

(8 web hits)

CASP10 Q296Einsufficiently evaluated not reviewedunknown
CASP10 Q339Einsufficiently evaluated not reviewedunknown
CASP10 V367Iinsufficiently evaluated noneunknown

(3 web hits)

CASP10 Y403Cinsufficiently evaluated not reviewedunknown
CASP10 I406Linsufficiently evaluated pathogenic, f=0.003unknown

(7 web hits)

var-GS19669-1100-36-ASM (hom)
CASP10 V410Iuncertain protective, f=0.047dominant

Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).

(112 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CASP10 A414Vinsufficiently evaluated pathogenicunknown

(2 web hits)

CASP10 Y446Cinsufficiently evaluated not reviewed, f=0.027unknown CGI sample GS00253-DNA_E01_200_37
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CASP10 L479Iinsufficiently evaluated noneunknown

(2 web hits)

CASP10 L522Iinsufficiently evaluated none, f=0.439unknown

(3 web hits)

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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
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 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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