GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PANK2 S68Xinsufficiently evaluated pathogenicunknown
PANK2 Y80Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PANK2 R94Pinsufficiently evaluated none, f=0.016unknown

(2 web hits)

var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
PANK2 A101Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
PANK2 L111Qinsufficiently evaluated none, f=0.043unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19649-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
PANK2 T124Ainsufficiently evaluated pathogenicunknown

(3 web hits)

PANK2 G126Ainsufficiently evaluated none, f=0.940unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (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-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PANK2 R154Winsufficiently evaluated pathogenicunknown

(5 web hits)

PANK2 R168Cinsufficiently evaluated pathogenicunknown

(5 web hits)

PANK2 R176Cinsufficiently evaluated pathogenicunknown

(4 web hits)

PANK2 L203Sinsufficiently evaluated not reviewedunknown
PANK2 S240Pinsufficiently evaluated pathogenicunknown

(4 web hits)

PANK2 M327Tinsufficiently evaluated pathogenicunknown
PANK2 S361Ninsufficiently evaluated pathogenicunknown

(3 web hits)

PANK2 R371Xinsufficiently evaluated pathogenicunknown

(9 web hits)

PANK2 D378Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
PANK2 G411Rinsufficiently evaluated pathogenicunknown

(19 web hits)

PANK2 T418Minsufficiently evaluated pathogenicunknown

(12 web hits)

PANK2 L494Sinsufficiently evaluated not reviewedunknown
Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

Log in