GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SPATA7 D2Ninsufficiently evaluated none, f=0.290unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19669-1100-36-ASM
SPATA7 V42Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
SPATA7 N57Sinsufficiently evaluated not reviewedunknown
SPATA7 Q63Rinsufficiently evaluated noneunknown
SPATA7 V74Minsufficiently evaluated not reviewed, f=0.416unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
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 (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
SPATA7 F87Linsufficiently evaluated noneunknown
SPATA7 Q95Rinsufficiently evaluated none, f=0.046unknown var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
SPATA7 R108Xinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

SPATA7 F119Linsufficiently evaluated none, f=0.044unknown var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
SPATA7 S133Ninsufficiently evaluated noneunknown
SPATA7 S165Ninsufficiently evaluated none, f=0.047unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
SPATA7 S186Linsufficiently evaluated noneunknown

(1 web hit)

SPATA7 S218Linsufficiently evaluated none, f=0.001unknown
SPATA7 G292Einsufficiently evaluated noneunknown

(4 web hits)

SPATA7 C308Yinsufficiently evaluated not reviewed, f=0.002unknown var-GS19703-1100-36-ASM
SPATA7 G324Einsufficiently evaluated none, f=0.046unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
SPATA7 R395Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
SPATA7 R395Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SPATA7 H413Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS19703-1100-36-ASM
SPATA7 R502Qinsufficiently evaluated noneunknown
SPATA7 R534Qinsufficiently evaluated none, f=0.050unknown

(1 web hit)

var-GS19700-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19670-1100-36-ASM
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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