GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SMPD1 G20Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
SMPD1 M33Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
SMPD1 VL36Delinsufficiently evaluated not reviewedunknown
SMPD1 VLAL36Delinsufficiently evaluated not reviewedrecessive CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_A04 from PGP sample 08188426
SMPD1 V36Ainsufficiently evaluated none, f=0.447unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS000006909
var-GS12004-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18526-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
SMPD1 A38Vinsufficiently evaluated none, f=0.055unknown
SMPD1 ALALAL44Delinsufficiently evaluated not reviewedunknown var-GS18505-1100-36-ASM
SMPD1 AL48Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS000006909
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
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
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
SMPD1 L163Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
SMPD1 P187Sinsufficiently evaluated none, f=0.017unknown

(1 web hit)

var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
SMPD1 G242Rinsufficiently evaluated pathogenicunknown

(3 web hits)

SMPD1 L261Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SMPD1 Q292Kinsufficiently evaluated pathogenicunknown

(23 web hits)

SMPD1 R296Qinsufficiently evaluated not reviewed, f=0.016unknown var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
SMPD1 L302Pinsufficiently evaluated pathogenicrecessive

Niemann-Pick Disease

(208 web hits)

SMPD1 V305Minsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
SMPD1 M382Iinsufficiently evaluated pathogenicunknown

(5 web hits)

SMPD1 N383Sinsufficiently evaluated pathogenicunknown

(6 web hits)

SMPD1 W391Ginsufficiently evaluated pathogenicunknown

(14 web hits)

SMPD1 H421Yinsufficiently evaluated pathogenicunknown

(20 web hits)

SMPD1 S436Rinsufficiently evaluated pathogenicunknown

(111 web hits)

SMPD1 R441Xinsufficiently evaluated pathogenicunknown

(113 web hits)

SMPD1 G464Rinsufficiently evaluated noneunknown

(4 web hits)

SMPD1 R496Linsufficiently evaluated pathogenicrecessive

Niemann-Pick Disease

(111 web hits)

SMPD1 R498Qinsufficiently evaluated not reviewedunknown
SMPD1 G507Rinsufficiently evaluated not reviewedunknown
SMPD1 G508Rinsufficiently evaluated none, f=0.200unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
SMPD1 R542Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
SMPD1 G577Sinsufficiently evaluated pathogenicunknown
SMPD1 T588Minsufficiently evaluated not reviewed, f=0.016unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 30

Gene search

"GENE" or "GENE A123C":

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