GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CASR L13Pinsufficiently evaluated pathogenicunknown

(16 web hits)

CASR P40Ainsufficiently evaluated pathogenicunknown

(1 web hit)

CASR K47Ninsufficiently evaluated pathogenicunknown

(13 web hits)

CASR R63Minsufficiently evaluated pathogenicunknown
CASR R67Cinsufficiently evaluated pathogenicunknown

(1 web hit)

CASR G94Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CASR A116Tinsufficiently evaluated pathogenicunknown

(14 web hits)

CASR N118Kinsufficiently evaluated pathogenicunknown

(13 web hits)

CASR L125Pinsufficiently evaluated pathogenicunknown

(26 web hits)

CASR E128Ainsufficiently evaluated pathogenicunknown
CASR F128Linsufficiently evaluated pathogenicunknown

(16 web hits)

CASR E133Dinsufficiently evaluated not reviewedunknown
CASR T139Minsufficiently evaluated pathogenicunknown
CASR C141Winsufficiently evaluated pathogenicunknown
CASR G144Einsufficiently evaluated pathogenicunknown

(1 web hit)

CASR T151Minsufficiently evaluated pathogenicunknown

(31 web hits)

CASR F180Cinsufficiently evaluated pathogenicunknown

(11 web hits)

CASR R185Qinsufficiently evaluated pathogenicunknown

(80 web hits)

CASR R185Xinsufficiently evaluated pathogenicunknown

(7 web hits)

CASR E191Kinsufficiently evaluated pathogenicunknown

(9 web hits)

CASR R227Qinsufficiently evaluated pathogenicunknown

(20 web hits)

CASR R227Linsufficiently evaluated pathogenicunknown

(25 web hits)

CASR R228Qinsufficiently evaluated pathogenicunknown

(3 web hits)

CASR E298Kinsufficiently evaluated pathogenicunknown

(2 web hits)

CASR G316Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
CASR N345Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
CASR T445Ainsufficiently evaluated not reviewed, f=0.002unknown var-GS19735-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19669-1100-36-ASM
CASR R465Qinsufficiently evaluated pathogenicunknown

(9 web hits)

CASR C542Ginsufficiently evaluated noneunknown
CASR G553Rinsufficiently evaluated pathogenicunknown

(14 web hits)

CASR C582Finsufficiently evaluated pathogenicunknown

(10 web hits)

CASR C582Yinsufficiently evaluated pathogenicunknown

(14 web hits)

CASR E604Kinsufficiently evaluated pathogenicunknown

(31 web hits)

CASR F612Sinsufficiently evaluated pathogenicunknown

(14 web hits)

CASR L616Vinsufficiently evaluated pathogenicunknown

(4 web hits)

CASR R648Xinsufficiently evaluated pathogenicunknown

(13 web hits)

CASR F662Linsufficiently evaluated not reviewedunknown
CASR G670Einsufficiently evaluated pathogenicunknown

(15 web hits)

CASR E681Hinsufficiently evaluated pathogenicunknown
CASR L727Qinsufficiently evaluated pathogenicunknown

(10 web hits)

CASR L773Rinsufficiently evaluated pathogenicunknown

(6 web hits)

CASR F788Cinsufficiently evaluated pathogenicunknown

(12 web hits)

CASR F788Linsufficiently evaluated pathogenicunknown

(9 web hits)

CASR R796Winsufficiently evaluated pathogenicunknown

(9 web hits)

CASR F806Sinsufficiently evaluated pathogenicunknown

(8 web hits)

CASR S820Finsufficiently evaluated pathogenicunknown

(4 web hits)

CASR A843Einsufficiently evaluated pathogenicunknown

(12 web hits)

CASR F881Linsufficiently evaluated pathogenicunknown

(8 web hits)

CASR R898Qinsufficiently evaluated pathogenicunknown
CASR A986Sinsufficiently evaluated benign, f=0.109unknown

Associated with higher serum level of calcium.

(302 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
CASR R990Ginsufficiently evaluated pharmacogenetic, f=0.064unknown

(149 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18956-1100-36-ASM
CASR A996Sinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CASR R1000Ginsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CASR E1011Qinsufficiently evaluated none, f=0.916unknown

(7 web hits)

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 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-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)
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 (hom)
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
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
var-GS19017-1100-36-ASM
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
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
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
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)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CASR E1021Qinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
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Total results: 55

Gene search

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