GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLDN16 R55Shiftinsufficiently evaluated not reviewed, f=0.172unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CLDN16 A56Shiftinsufficiently evaluated not reviewedunknown hu34D5B9 exome (hom)
CLDN16 A56Pinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
CLDN16 M71Rinsufficiently evaluated pathogenicunknown

(1 web hit)

CLDN16 W117Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CLDN16 C120Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
CLDN16 L145Pinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

CLDN16 R149Xinsufficiently evaluated pathogenicunknown
CLDN16 L151Finsufficiently evaluated pathogenicunknown

(7 web hits)

CLDN16 L151Pinsufficiently evaluated pathogenicunknown
CLDN16 L151Winsufficiently evaluated pathogenicunknown

(3 web hits)

CLDN16 L167Pinsufficiently evaluated pathogenicunknown

(1 web hit)

CLDN16 G191Rinsufficiently evaluated pathogenicunknown

(6 web hits)

CLDN16 G198Dinsufficiently evaluated pathogenicunknown

(2 web hits)

CLDN16 Y207Xinsufficiently evaluated pathogenicunknown

(11 web hits)

CLDN16 F232Cinsufficiently evaluated pathogenicunknown

(5 web hits)

CLDN16 G233Dinsufficiently evaluated pathogenicunknown

(2 web hits)

CLDN16 T233Rinsufficiently evaluated pathogenicunknown

(21 web hits)

CLDN16 S235Finsufficiently evaluated pathogenicunknown
CLDN16 G239Rinsufficiently evaluated pathogenicunknown

(2 web hits)

Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

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