GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VHL M1Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
VHL L63Pinsufficiently evaluated pathogenicunknown

(20 web hits)

VHL R64Pinsufficiently evaluated pathogenicunknown

(42 web hits)

VHL P81Spathogenic, f=0.000dominant

One group reported a sporadic hemangioblastoma case with this variant, a tumor commonly found in von Hippel-Lindau (VHL) disease. However, the finding had no statistical significance and three other relatives with the variant were unaffected — the variant might be coincidental, or may cause VHL disease with lowered penetrance. VHL disease is typically highly penetrant, dominantly inherited and causes multiple tumors. Also found in combination with another variant (L188V) in another family with VHL disease; both variants were inherited together, and functional studies implicate the other variant as more disruptive.

(75 web hits)

VHL V84Linsufficiently evaluated pathogenicunknown

(72 web hits)

VHL W88Sinsufficiently evaluated pathogenicunknown

(9 web hits)

VHL G93Sinsufficiently evaluated pathogenicunknown

(5 web hits)

VHL Y98Hinsufficiently evaluated pathogenicunknown

(107 web hits)

VHL Y112Hinsufficiently evaluated pathogenicunknown

(55 web hits)

VHL Y112Ninsufficiently evaluated pathogenicunknown

(27 web hits)

VHL D126Yinsufficiently evaluated pathogenicunknown

(14 web hits)

VHL V130Linsufficiently evaluated pathogenicunknown

(11 web hits)

VHL L135Finsufficiently evaluated pathogenicunknown
VHL R161Xinsufficiently evaluated pathogenicunknown

(11 web hits)

VHL L163Pinsufficiently evaluated pathogenicunknown

(6 web hits)

VHL V166Finsufficiently evaluated pathogenicunknown

(8 web hits)

VHL R167Ginsufficiently evaluated pathogenicunknown

(10 web hits)

VHL R167Qinsufficiently evaluated pathogenicunknown

(76 web hits)

VHL R167Winsufficiently evaluated pathogenicunknown

(53 web hits)

VHL S183Xinsufficiently evaluated pathogenicunknown

(3 web hits)

VHL L188Vinsufficiently evaluated pathogenicunknown

(141 web hits)

VHL H191Dinsufficiently evaluated pathogenicunknown

(9 web hits)

VHL P192Sinsufficiently evaluated pathogenicunknown

(8 web hits)

VHL R200Winsufficiently evaluated pathogenic, f=0.000unknown

(77 web hits)

VHLL E52Kinsufficiently evaluated not reviewedunknown
VHLL R55Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
VHLL I58Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19649-1100-36-ASM
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Total results: 27

Gene search

"GENE" or "GENE A123C":

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