GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACE S32Pinsufficiently evaluated not reviewedunknown

(409 web hits)

ACE S49Ginsufficiently evaluated not reviewedunknown

(43 web hits)

ACE S86Cinsufficiently evaluated not reviewedunknown

(14 web hits)

ACE T202Tinsufficiently evaluated pharmacogeneticunknown

(891 web hits)

ACE W227Rinsufficiently evaluated not reviewedunknown
ACE A261Sinsufficiently evaluated not reviewed, f=0.032unknown

(2 web hits)

var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
ACE Y266Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ACE M312Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ACE A319Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
ACE R324Winsufficiently evaluated none, f=0.009unknown var-GS19700-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
ACE D353Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS18947-1100-36-ASM
ACE G354Rinsufficiently evaluated not reviewed, f=0.007unknown hu232307 build 36 substitution variants
ACE R442Hinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS00253-DNA_B02_200_37
ACE N462Kinsufficiently evaluated noneunknown
ACE R496Xpathogenicrecessive

Reported to cause renal tubular agenesis, reported by OMIM. This comes from Gribouval et al 2012 (PMID: 22095942), a case study which found this variant homozygous in an affected newborn.

ACE T572Minsufficiently evaluated not reviewedunknown
ACE D592Ginsufficiently evaluated not reviewed, f=0.017unknown var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
ACE T613Minsufficiently evaluated not reviewedunknown

(1 web hit)

ACE G618Sinsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

ACE G639Sinsufficiently evaluated none, f=0.008unknown
ACE S660Cinsufficiently evaluated not reviewed, f=0.001unknown

(21800 web hits)

CGI sample GS00253-DNA_A02_200_37
ACE R675Qinsufficiently evaluated not reviewedunknown
ACE R712Sinsufficiently evaluated noneunknown

(2 web hits)

ACE R716Qinsufficiently evaluated not reviewedunknown
ACE M828Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
ACE N1036Kinsufficiently evaluated none, f=0.001unknown CGI sample GS00253-DNA_H01_200_37
ACE P1102Tinsufficiently evaluated not reviewed, f=0.003unknown var-GS21767-1100-36-ASM
ACE T1187Minsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

CGI sample GS00253-DNA_B02_200_37
ACE P1199Linsufficiently evaluated pathogenicunknown

(4 web hits)

ACE R1286Sinsufficiently evaluated none, f=0.029unknown

(4 web hits)

ACE R1290Qinsufficiently evaluated not reviewed, f=0.006unknown var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
ACE2 S3Ninsufficiently evaluated not reviewedunknown

(33 web hits)

ACE2 S19Pinsufficiently evaluated none, f=0.001unknown
ACE2 Q552Rinsufficiently evaluated not reviewedunknown
ACE2 N720Dinsufficiently evaluated not reviewed, f=0.018unknown var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ACER1 M74Vinsufficiently evaluated none, f=0.093unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18942-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
ACER1 G114Ainsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
ACER1 V157Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ACER1 V182Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
ACER1 M221Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
ACER1 R245Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
ACER2 Q9Kinsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ACER2 T58Iinsufficiently evaluated not reviewedunknown
ACER2 A134Vinsufficiently evaluated none, f=0.012unknown var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
ACER2 N267Tinsufficiently evaluated not reviewed, f=0.007unknown var-GS18505-1100-36-ASM
ACER3 V52Iinsufficiently evaluated none, f=0.704unknown 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 GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
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
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
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
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
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 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ACER3 L70Pinsufficiently evaluated not reviewedunknown
ACER3 H120Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
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Total results: 48

Gene search

"GENE" or "GENE A123C":

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