GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AARS E22Kinsufficiently evaluated not reviewed, f=0.006unknown var-GS19020-1100-36-ASM
AARS V92Iinsufficiently evaluated not reviewedunknown

(1 web hit)

AARS P234Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
AARS G275Dinsufficiently evaluated none, f=0.080unknown var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
AARS V380Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
AARS T562Iinsufficiently evaluated none, f=0.006unknown var-GS19649-1100-36-ASM
AARS G586Vinsufficiently evaluated noneunknown

(2 web hits)

AARS F722Linsufficiently evaluated not reviewed, f=0.002unknown var-GS19239-1100-36-ASM
AARS R751Ginsufficiently evaluated not reviewed, f=0.000unknown var-GS06985-1100-36-ASM
AARS T804Sinsufficiently evaluated noneunknown
AARS K820Rinsufficiently evaluated not reviewed, f=0.001unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
AARS K967Muncertain benign, f=0.011unknown

Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner.

CGI sample GS000006909
CGI sample GS000005532
CGI sample GS00253-DNA_D01_200_37
AARS2 G161Winsufficiently evaluated noneunknown
AARS2 D287Einsufficiently evaluated not reviewed, f=0.012unknown var-GS19700-1100-36-ASM
AARS2 I339Vinsufficiently evaluated none, f=0.886unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
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 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (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 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-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 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
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 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (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)
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 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
AARS2 N399Sinsufficiently evaluated not reviewed, f=0.011unknown var-GS18502-1100-36-ASM
AARS2 R471Qinsufficiently evaluated not reviewed, f=0.010unknown var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
AARS2 G543Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
AARS2 V730Minsufficiently evaluated none, f=0.031unknown CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS06985-1100-36-ASM
AARS2 L809Qinsufficiently evaluated not reviewed, f=0.020unknown var-GS18502-1100-36-ASM
AARS2 V814Minsufficiently evaluated not reviewed, f=0.017unknown var-GS18502-1100-36-ASM
AARS2 E843Ginsufficiently evaluated noneunknown
AARS2 M850Vinsufficiently evaluated none, f=0.022unknown

(5 web hits)

var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
AARS2 R877Winsufficiently evaluated not reviewed, f=0.009unknown var-GS19026-1100-36-ASM
AARS2 G965Rpathogenicrecessive

Reported to cause progressive leukoencephalopathy in a recessive manner, causing severe neurogeneration begining in young adulthood. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000132555/), and comes from Dallabona et al 2014 (PMID: 24808023) who found this variant in one of 11 patients, compound heterozygous with another putative pathogenic variant.

AARSD1 V5Iinsufficiently evaluated not reviewed, f=0.055unknown var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
AARSD1 R46Cinsufficiently evaluated not reviewedunknown
AARSD1 R46Winsufficiently evaluated not reviewedunknown
AARSD1 R58Minsufficiently evaluated none, f=0.134unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_A07 from PGP sample 96240009
hu728FFF build 36 substitution variants
AARSD1 D87Yinsufficiently evaluated noneunknown
AARSD1 D110Yinsufficiently evaluated noneunknown
AARSD1 D115Yinsufficiently evaluated noneunknown
AARSD1 D148Yinsufficiently evaluated noneunknown
AARSD1 R174Cinsufficiently evaluated none, f=0.016unknown var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
AARSD1 A198Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
AARSD1 E213Kinsufficiently evaluated not reviewedunknown
AARSD1 V231Ginsufficiently evaluated noneunknown
AARSD1 R235Cinsufficiently evaluated noneunknown
AARSD1 E274Kinsufficiently evaluated not reviewedunknown
AARSD1 V292Ginsufficiently evaluated noneunknown
AARSD1 T581Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
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Total results: 41

Gene search

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