GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
JAG1 L37Sinsufficiently evaluated pathogenicunknown

(16 web hits)

JAG1 V146Iinsufficiently evaluated not reviewed, f=0.012unknown var-GS18505-1100-36-ASM
JAG1 R184Cinsufficiently evaluated pathogenicunknown
JAG1 R184Hinsufficiently evaluated pathogenicunknown

(20 web hits)

JAG1 C234Yinsufficiently evaluated pathogenicunknown

(24 web hits)

JAG1 Y255Xinsufficiently evaluated not reviewedunknown
JAG1 V272Iinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B02_200_37
JAG1 G274Dinsufficiently evaluated pathogenicunknown

(80 web hits)

JAG1 P552Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
JAG1 P871Rinsufficiently evaluated not reviewed, f=0.049unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20509-1100-36-ASM
JAG1 N1110Tuncertain benign, f=0.000unknown

Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2. Other damaging variants are reported to cause Alagille syndrome in a dominant manner.

CGI sample GS00253-DNA_D01_200_37
JAG1 Y1139Xinsufficiently evaluated not reviewedunknown
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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