GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MUSK T100Muncertain benign, f=0.023unknown

Probably benign.

(2 web hits)

CGI sample GS00253-DNA_A01_200_37
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
MUSK I133Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
MUSK S159Ginsufficiently evaluated not reviewed, f=0.117unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
MUSK N222Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
MUSK M325Iinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
MUSK M335Iinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
MUSK P392Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
MUSK Y397Hinsufficiently evaluated not reviewed, f=0.005unknown var-GS21767-1100-36-ASM
MUSK M413Iinsufficiently evaluated not reviewed, f=0.096unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
hu728FFF build 36 substitution variants
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
MUSK I506Vinsufficiently evaluated not reviewedunknown
MUSK N664Sinsufficiently evaluated none, f=0.010unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS18947-1100-36-ASM
MUSK V790Minsufficiently evaluated pathogenic, f=0.000unknown

Reported to cause Congenital Myasthenic Syndrome in a recessive manner

(39 web hits)

CGI sample GS01173-DNA_A07 from PGP sample 96240009
MUSK V829Linsufficiently evaluated none, f=0.097unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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