GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PMS1 E27Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
PMS1 Y90Shiftuncertain benign, f=0.008unknown

This variant is tentatively evaluated as benign, as the only publications linking mutations in this gene to disease have been contradicted.

CGI sample GS00253-DNA_C01_200_37
PMS1 R147Kinsufficiently evaluated none, f=0.000unknown
PMS1 R202Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F06 from PGP sample 64191565
PMS1 Q233Xinsufficiently evaluated pathogenic, f=0.000unknown
PMS1 M355Tinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
PMS1 E374Kinsufficiently evaluated not reviewedunknown CGI sample GS000006909
PMS1 S381Ainsufficiently evaluated not reviewedunknown CGI sample GS000006909
PMS1 M394Tinsufficiently evaluated unknown, f=0.016unknown hu3215A7 build 36 substitution variants
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
hu728FFF build 36 substitution variants
PMS1 F419Sinsufficiently evaluated not reviewedunknown
PMS1 F458Sinsufficiently evaluated not reviewedunknown
PMS1 G462Rinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
PMS1 G501Rinsufficiently evaluated unknown, f=0.014unknown hu3215A7 build 36 substitution variants
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
PMS1 K509Rinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
PMS1 S529Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
PMS1 V543Iinsufficiently evaluated noneunknown

(2 web hits)

PMS1 K548Rinsufficiently evaluated unknown, f=0.004unknown hu3215A7 build 36 substitution variants
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
PMS1 V582Iinsufficiently evaluated none, f=0.000unknown var-GS19129-1100-36-ASM
PMS1 Y631Hinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
PMS1 N654Dinsufficiently evaluated not reviewedunknown
PMS1 R689Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
PMS1 N693Dinsufficiently evaluated not reviewedunknown
PMS1 Y754Hinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
PMS1 Y765Cinsufficiently evaluated not reviewedunknown
PMS1 Y793Hinsufficiently evaluated unknown, f=0.016unknown hu3215A7 build 36 substitution variants
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
hu728FFF build 36 substitution variants
PMS1 T806Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PMS1 Y888Cinsufficiently evaluated not reviewedunknown
PMS1 R919Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
PMS1 R919Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
PMS1 Y927Cinsufficiently evaluated not reviewedunknown
Page: 1 2 3
Total results: 30

Gene search

"GENE" or "GENE A123C":

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