GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CHAT A2Tinsufficiently evaluated noneunknown

(29600 web hits)

CHAT P3Linsufficiently evaluated not reviewedunknown
CHAT D7Ninsufficiently evaluated noneunknown

(11400 web hits)

CHAT A38Tinsufficiently evaluated noneunknown

(10 web hits)

CHAT D47Einsufficiently evaluated none, f=0.002unknown

(217 web hits)

CHAT A120Tinsufficiently evaluated none, f=0.184unknown

(26 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18940-1100-36-ASM
CHAT L125Finsufficiently evaluated not reviewedunknown
CHAT L161Finsufficiently evaluated not reviewedunknown
CHAT L210Pinsufficiently evaluated pathogenicunknown

(26 web hits)

CHAT P211Ainsufficiently evaluated pathogenicunknown

(33 web hits)

CHAT S237Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS18526-1100-36-ASM
CHAT L243Finsufficiently evaluated not reviewed, f=0.045unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CHAT L249Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS18505-1100-36-ASM
CHAT D282Ninsufficiently evaluated not reviewedunknown

(4 web hits)

CHAT I305Tinsufficiently evaluated pathogenicunknown

(18 web hits)

CHAT D318Ninsufficiently evaluated not reviewedunknown
CHAT L340Finsufficiently evaluated noneunknown
CHAT V343Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
CHAT E363Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CHAT R375Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CHAT L376Finsufficiently evaluated noneunknown
CHAT V379Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
CHAT D400Ninsufficiently evaluated not reviewed, f=0.016unknown

(4 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CHAT R420Cinsufficiently evaluated pathogenicunknown

(40 web hits)

CHAT E441Kinsufficiently evaluated pathogenicunknown

(19 web hits)

CHAT L458Finsufficiently evaluated none, f=0.004unknown

(2 web hits)

CHAT V461Minsufficiently evaluated not reviewed, f=0.961unknown 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) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (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
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 (hom)
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 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
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
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 (hom)
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)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
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 (hom)
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 (hom)
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 (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CHAT E477Xinsufficiently evaluated noneunknown
CHAT R482Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
CHAT R482Ginsufficiently evaluated pathogenicunknown

(19 web hits)

CHAT S498Linsufficiently evaluated pathogenicunknown

(20 web hits)

CHAT V506Linsufficiently evaluated pathogenicunknown

(131 web hits)

CHAT E513Xinsufficiently evaluated noneunknown
CHAT R560Hinsufficiently evaluated pathogenic, f=0.000unknown

(21 web hits)

CHAT R561Qinsufficiently evaluated not reviewed, f=0.008unknown

Reported to cause severe autosomal recessive osteopetrosis

var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CHAT E595Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal 5.7% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing congenital myasthenic syndrome in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 523). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

CHAT R628Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS07357-1100-36-ASM
CHAT I1336Tinsufficiently evaluated pathogenicunknown

(1 web hit)

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Total results: 38

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