GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MYO15A R41Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
MYO15A G275Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
MYO15A H529Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
MYO15A A595Tinsufficiently evaluated none, f=0.338unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
MYO15A W718Ginsufficiently evaluated none, f=0.176unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
MYO15A N890Yinsufficiently evaluated pathogenicunknown

(1 web hit)

MYO15A I892Finsufficiently evaluated pathogenicunknown

(1 web hit)

MYO15A P894Sinsufficiently evaluated none, f=0.004unknown
MYO15A K1003Qinsufficiently evaluated not reviewedunknown
MYO15A T1008Sinsufficiently evaluated not reviewed, f=0.010unknown var-GS18508-1100-36-ASM
MYO15A P1009Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
MYO15A D1049DITPPKDinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
MYO15A E1105Xinsufficiently evaluated pathogenicunknown

(12 web hits)

MYO15A Q1138Rinsufficiently evaluated not reviewed, f=0.015unknown CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
MYO15A H1171Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
MYO15A Q1229Xinsufficiently evaluated pathogenicunknown

(2 web hits)

MYO15A K1300Xinsufficiently evaluated pathogenicunknown

(1 web hit)

MYO15A I1411Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
MYO15A E1431Kinsufficiently evaluated not reviewed, f=0.008unknown
MYO15A E1433Kinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
MYO15A R1628Cinsufficiently evaluated not reviewed, f=0.016unknown var-GS18505-1100-36-ASM
MYO15A P1685Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
MYO15A P1687Linsufficiently evaluated none, f=0.000unknown
MYO15A G1831Vinsufficiently evaluated pathogenicunknown

(1 web hit)

MYO15A C1975Rinsufficiently evaluated not reviewed, f=0.727unknown var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (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
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (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
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
MYO15A C1977Rinsufficiently evaluated not reviewed, f=0.805unknown

(9 web hits)

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 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37 (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
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)
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MYO15A G2016Rinsufficiently evaluated not reviewed, f=0.172unknown hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
MYO15A G2018Rinsufficiently evaluated not reviewed, f=0.123unknown

(9 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
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 GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants
MYO15A P2162Linsufficiently evaluated not reviewedunknown
MYO15A R2194Winsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
MYO15A T2205Iinsufficiently evaluated pathogenic, f=0.003unknown

(2 web hits)

MYO15A R2260Hinsufficiently evaluated not reviewed, f=0.008unknown
MYO15A R2262Hinsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS00253-DNA_B02_200_37
MYO15A Y2399Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
MYO15A A2488Tinsufficiently evaluated not reviewed, f=0.047unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
MYO15A A2490Tinsufficiently evaluated none, f=0.037unknown

(1 web hit)

MYO15A Y2680Finsufficiently evaluated not reviewed, f=0.071unknown var-GS18504-1100-36-ASM
var-GS20502-1100-36-ASM
MYO15A Y2682Finsufficiently evaluated none, f=0.344unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MYO15A Q2716Hinsufficiently evaluated pathogenicunknown

(2 web hits)

MYO15A R2812Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
MYO15A S2905Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
MYO15A S2907Tinsufficiently evaluated noneunknown
MYO15A L3167Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
MYO15A Q3337Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
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Total results: 44

Gene search

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