GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ENPP1 A37Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ENPP1 K121Qinsufficiently evaluated pathogenic, f=0.331unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
ENPP1 A124Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ENPP1 K173Qinsufficiently evaluated none, f=0.357unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ENPP1 S235Finsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
ENPP1 G342Vinsufficiently evaluated pathogenicunknown
ENPP1 Y371Finsufficiently evaluated pathogenicunknown
ENPP1 E472Ginsufficiently evaluated not reviewedunknown
ENPP1 L579Finsufficiently evaluated pathogenicunknown
ENPP1 P638Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
ENPP1 R722Cinsufficiently evaluated not reviewed, f=0.016unknown var-GS12004-1100-36-ASM
var-GS20509-1100-36-ASM
ENPP1 R774Cuncertain benign, f=0.026undefined

Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_F06 from PGP sample 64191565
ENPP1 T779Pinsufficiently evaluated none, f=0.000unknown

(28 web hits)

ENPP1 R834Tinsufficiently evaluated not reviewed, f=0.008unknown
ENPP1 R886Tinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_B01_200_37
ENPP1 E893Xinsufficiently evaluated pathogenicunknown
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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