GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BMPR2 N29Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS18501-1100-36-ASM
BMPR2 Y40Xinsufficiently evaluated pathogenicunknown

(1 web hit)

BMPR2 S73Xinsufficiently evaluated pathogenicunknown

(5 web hits)

BMPR2 C118Winsufficiently evaluated pathogenicunknown

(17 web hits)

BMPR2 C123Rinsufficiently evaluated pathogenicunknown

(4 web hits)

BMPR2 C123Sinsufficiently evaluated pathogenicunknown

(5 web hits)

BMPR2 C169Xinsufficiently evaluated pathogenicunknown

(4 web hits)

BMPR2 G182Dinsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

BMPR2 R211Xinsufficiently evaluated pathogenicunknown

(13 web hits)

BMPR2 R332Xinsufficiently evaluated pathogenicunknown

(7 web hits)

BMPR2 C347Yinsufficiently evaluated pathogenicunknown

(23 web hits)

BMPR2 Q433Xinsufficiently evaluated pathogenicunknown

(4 web hits)

BMPR2 D485Ginsufficiently evaluated pathogenicunknown

(19 web hits)

BMPR2 R491Qinsufficiently evaluated pathogenicunknown

(12 web hits)

BMPR2 R491Winsufficiently evaluated pathogenicunknown

(21 web hits)

BMPR2 K678Einsufficiently evaluated not reviewedunknown
BMPR2 S775Ninsufficiently evaluated not reviewed, f=0.025unknown hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BMPR2 A810Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
BMPR2 R873Xinsufficiently evaluated pathogenicunknown

(7 web hits)

BMPR2 R899Pinsufficiently evaluated pathogenicunknown

(20 web hits)

BMPR2 R899Xinsufficiently evaluated pathogenicunknown

(41 web hits)

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Total results: 21

Gene search

"GENE" or "GENE A123C":

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