GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NSD1 P39Ainsufficiently evaluated not reviewedunknown

(1 web hit)

NSD1 P308Ainsufficiently evaluated not reviewedunknown
NSD1 R335Linsufficiently evaluated not reviewedunknown
NSD1 V345Linsufficiently evaluated noneunknown
NSD1 A422Tinsufficiently evaluated not reviewedunknown

(1 web hit)

NSD1 S437Xinsufficiently evaluated pathogenicunknown

(6 web hits)

NSD1 D450Vinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
NSD1 S457Pinsufficiently evaluated noneunknown
NSD1 R604Linsufficiently evaluated not reviewed, f=0.005unknown

(8 web hits)

hu3215A7 build 36 substitution variants
NSD1 V614Linsufficiently evaluated none, f=0.102unknown

(8 web hits)

hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
NSD1 A691Tinsufficiently evaluated not reviewed, f=0.018unknown

(8 web hits)

var-GS19025-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
NSD1 S726Pinsufficiently evaluated not reviewed, f=0.129unknown

(10 web hits)

var-GS19025-1100-36-ASM
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
NSD1 R743Hinsufficiently evaluated not reviewedunknown
NSD1 A767Pinsufficiently evaluated not reviewedunknown
NSD1 E861Ginsufficiently evaluated not reviewedunknown
NSD1 R902Hinsufficiently evaluated not reviewedunknown
NSD1 G982Rinsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
NSD1 R1012Hinsufficiently evaluated not reviewedunknown
NSD1 A1036Pinsufficiently evaluated not reviewed, f=0.026unknown

(4 web hits)

var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
NSD1 E1130Ginsufficiently evaluated not reviewed, f=0.001unknown
NSD1 R1171Hinsufficiently evaluated not reviewedunknown
NSD1 G1231Einsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
NSD1 R1320Xinsufficiently evaluated pathogenicunknown

(3 web hits)

NSD1 N1650Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
NSD1 R1696Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
NSD1 P1961Sinsufficiently evaluated noneunknown
NSD1 M1981Iinsufficiently evaluated noneunknown
NSD1 M1992Tinsufficiently evaluated noneunknown
NSD1 H2143Einsufficiently evaluated pathogenicunknown

(4 web hits)

NSD1 C2183Sinsufficiently evaluated pathogenicunknown

(8 web hits)

NSD1 C2202Yinsufficiently evaluated pathogenicunknown

(2 web hits)

NSD1 P2230Sinsufficiently evaluated noneunknown
NSD1 M2250Iinsufficiently evaluated none, f=0.053unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
NSD1 M2261Tinsufficiently evaluated none, f=0.053unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
NSD1 A2277Tinsufficiently evaluated noneunknown
NSD1 S2379Pinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
NSD1 A2546Tuncertain benign, f=0.025unknown

Benign, reported as a polymorphism.

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
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Total results: 37

Gene search

"GENE" or "GENE A123C":

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