GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DMD F44Vinsufficiently evaluated not reviewedunknown

(1 web hit)

DMD F47Vinsufficiently evaluated not reviewedunknown

(1 web hit)

DMD L54Rinsufficiently evaluated pathogenicunknown

(21 web hits)

DMD Q60Xinsufficiently evaluated pathogenicunknown

(3 web hits)

DMD Q85Xinsufficiently evaluated pathogenicunknown

(2 web hits)

DMD R145Xinsufficiently evaluated pathogenicunknown

(2 web hits)

DMD E158Ginsufficiently evaluated not reviewedunknown
DMD K166Rinsufficiently evaluated noneunknown
DMD A168Dinsufficiently evaluated pathogenicunknown

(6 web hits)

DMD K169Rinsufficiently evaluated noneunknown
DMD R208Qinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
DMD Y231Ninsufficiently evaluated pathogenicunknown

(7 web hits)

DMD L235Iinsufficiently evaluated not reviewed, f=0.011unknown var-GS18947-1100-36-ASM
DMD Q242Xinsufficiently evaluated pathogenicunknown
DMD E250Xinsufficiently evaluated pathogenicunknown

(7 web hits)

DMD T279Ainsufficiently evaluated pathogenicunknown

(4 web hits)

DMD N328Kinsufficiently evaluated not reviewedunknown
DMD N331Kinsufficiently evaluated not reviewedunknown

(1 web hit)

DMD R343Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS19238-1100-36-ASM
DMD E361Ginsufficiently evaluated not reviewedunknown

(1 web hit)

DMD D395Einsufficiently evaluated not reviewedunknown

(1 web hit)

DMD R401Hinsufficiently evaluated noneunknown
DMD R404Hinsufficiently evaluated noneunknown
DMD T409Sinsufficiently evaluated not reviewed, f=0.013unknown var-GS21767-1100-36-ASM
DMD E427Ginsufficiently evaluated not reviewedunknown
DMD E451Qinsufficiently evaluated noneunknown
DMD E454Qinsufficiently evaluated noneunknown

(1 web hit)

DMD E476Ginsufficiently evaluated not reviewedunknown
DMD R477Qinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
DMD E480Ginsufficiently evaluated not reviewedunknown
DMD G480Xinsufficiently evaluated pathogenicunknown
DMD E484Ginsufficiently evaluated not reviewedunknown
DMD Q497Xinsufficiently evaluated pathogenicunknown
DMD D510Einsufficiently evaluated not reviewedunknown

(6 web hits)

DMD D514Einsufficiently evaluated not reviewedunknown
DMD D518Einsufficiently evaluated not reviewed, f=0.013unknown

(2 web hits)

DMD S543Linsufficiently evaluated noneunknown
DMD I585Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
DMD A608Vinsufficiently evaluated not reviewed, f=0.011unknown var-GS18502-1100-36-ASM
DMD T630Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
DMD W651Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD S658Linsufficiently evaluated noneunknown
DMD S662Linsufficiently evaluated noneunknown
DMD S666Linsufficiently evaluated none, f=0.006unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
DMD Q673Xinsufficiently evaluated pathogenicunknown
DMD T715Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS18504-1100-36-ASM (hom)
DMD D759Ginsufficiently evaluated noneunknown

(14 web hits)

DMD K770Xinsufficiently evaluated pathogenicunknown
DMD K773Einsufficiently evaluated pathogenicunknown
DMD D874Ginsufficiently evaluated noneunknown

(1 web hit)

DMD D878Ginsufficiently evaluated noneunknown

(1 web hit)

DMD D882Ginsufficiently evaluated none, f=0.650unknown

(1 web hit)

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 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
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 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (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-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-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
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
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_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
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-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_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
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)
DMD E931Xinsufficiently evaluated pathogenicunknown
DMD Q1041Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD W1063Xinsufficiently evaluated pathogenicunknown
DMD E1157Xinsufficiently evaluated pathogenicunknown
DMD F1265Vinsufficiently evaluated not reviewedunknown
DMD R1314Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD F1380Vinsufficiently evaluated not reviewedunknown
DMD F1384Vinsufficiently evaluated not reviewedunknown
DMD K1387Rinsufficiently evaluated noneunknown
DMD F1388Vinsufficiently evaluated not reviewed, f=0.032unknown

(3 web hits)

var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
DMD V1401Minsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
DMD Q1405Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD Q1472Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD K1502Rinsufficiently evaluated noneunknown
DMD K1506Rinsufficiently evaluated noneunknown
DMD K1510Rinsufficiently evaluated none, f=0.000unknown var-GS18956-1100-36-ASM
DMD E1543Ginsufficiently evaluated not reviewedunknown
DMD E1546Ginsufficiently evaluated not reviewedunknown
DMD N1549Kinsufficiently evaluated not reviewedunknown
DMD R1593Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
DMD R1596Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
DMD R1622Hinsufficiently evaluated noneunknown
DMD N1664Kinsufficiently evaluated not reviewedunknown
DMD N1668Kinsufficiently evaluated not reviewedunknown
DMD N1672Kinsufficiently evaluated not reviewed, f=0.025unknown

(2 web hits)

var-GS19834-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
DMD E1672Qinsufficiently evaluated noneunknown
DMD R1737Hinsufficiently evaluated noneunknown
DMD R1741Hinsufficiently evaluated noneunknown
DMD R1745Hinsufficiently evaluated none, f=0.336unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (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
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
DMD E1787Qinsufficiently evaluated noneunknown
DMD E1791Qinsufficiently evaluated noneunknown
DMD E1795Qinsufficiently evaluated none, f=0.011unknown var-GS18956-1100-36-ASM
DMD E1826Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
DMD Q1829Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
DMD Q1851Xinsufficiently evaluated pathogenicunknown
DMD R1967Xinsufficiently evaluated pathogenicunknown

(4 web hits)

DMD R1978Hinsufficiently evaluated not reviewed, f=0.011unknown var-GS18947-1100-36-ASM
DMD Y1995Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD R2098Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD R2108Cinsufficiently evaluated not reviewed, f=0.012unknown var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
DMD Q2125Xinsufficiently evaluated pathogenicunknown
DMD R2155Wuncertain benign, f=0.027unknown

Probably benign.

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
DMD Q2264Xinsufficiently evaluated pathogenicunknown
DMD Q2319Xinsufficiently evaluated pathogenicunknown
DMD K2366Qinsufficiently evaluated not reviewed, f=0.201unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19704-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
DMD E2468Xinsufficiently evaluated pathogenicunknown

(1 web hit)

DMD Q2574Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
DMD E2764Ginsufficiently evaluated not reviewedunknown
DMD R2814Qinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
DMD E2879Ginsufficiently evaluated not reviewedunknown
DMD E2883Ginsufficiently evaluated not reviewedunknown
DMD E2887Ginsufficiently evaluated not reviewedunknown
DMD R2905Xinsufficiently evaluated pathogenicunknown

(6 web hits)

DMD E2910Vinsufficiently evaluated pathogenic, f=0.030unknown

(5 web hits)

var-GS18558-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS18508-1100-36-ASM
DMD N2912Dinsufficiently evaluated pathogenic, f=0.031unknown

(5 web hits)

var-GS18558-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS18508-1100-36-ASM
DMD H2921Runcertain benign, f=0.021unknown

Thought to be a rare nonpathogenic polymorphism.

(1 web hit)

var-GS19648-1100-36-ASM
DMD A2923Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19238-1100-36-ASM
DMD R2929Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
DMD R2933Qinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
DMD R2937Qinsufficiently evaluated not reviewed, f=0.957unknown

(1 web hit)

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
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 (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)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (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
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 (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 (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
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
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 (hom)
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)
DMD R2982Xinsufficiently evaluated pathogenicunknown

(2 web hits)

DMD S3066Xinsufficiently evaluated pathogenicunknown
DMD R3190Xinsufficiently evaluated pathogenicunknown

(2 web hits)

DMD C3340Yinsufficiently evaluated pathogenicunknown

(19 web hits)

DMD R3370Xinsufficiently evaluated pathogenicunknown

(2 web hits)

DMD R3381Xinsufficiently evaluated pathogenicunknown

(5 web hits)

DMD A3421Vinsufficiently evaluated pathogenicunknown
Page: 1 2 3 4 5 6 7 8 9 10 11 12
Total results: 119

Gene search

"GENE" or "GENE A123C":

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