GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KCNQ1 V80Minsufficiently evaluated noneunknown
KCNQ1 P117Linsufficiently evaluated pathogenicunknown

(35 web hits)

KCNQ1 S140Ginsufficiently evaluated pathogenicunknown

(412 web hits)

KCNQ1 A178Pinsufficiently evaluated pathogenicunknown

(10 web hits)

KCNQ1 G189Rinsufficiently evaluated pathogenicunknown

(42 web hits)

KCNQ1 R190Qinsufficiently evaluated pathogenicunknown

(60 web hits)

KCNQ1 V207Minsufficiently evaluated none, f=0.001unknown

(37 web hits)

var-GS18517-1100-36-ASM
KCNQ1 R243Pinsufficiently evaluated pathogenicunknown

(2 web hits)

KCNQ1 V254Minsufficiently evaluated pathogenicunknown

(45 web hits)

KCNQ1 G269Dinsufficiently evaluated pathogenicunknown

(30 web hits)

KCNQ1 G269Sinsufficiently evaluated pathogenicunknown

(43 web hits)

KCNQ1 L273Finsufficiently evaluated pathogenicunknown

(61 web hits)

KCNQ1 P281Ainsufficiently evaluated noneunknown
KCNQ1 A300Tinsufficiently evaluated pathogenicunknown

(38 web hits)

KCNQ1 W305Sinsufficiently evaluated pathogenicunknown

(46 web hits)

KCNQ1 G306Rinsufficiently evaluated pathogenicunknown

(66 web hits)

KCNQ1 V307Linsufficiently evaluated pathogenicunknown

(72 web hits)

KCNQ1 T312Iinsufficiently evaluated pathogenicunknown

(16 web hits)

KCNQ1 G314Sinsufficiently evaluated pathogenicunknown

(89 web hits)

KCNQ1 P321Rinsufficiently evaluated noneunknown
KCNQ1 A341Einsufficiently evaluated pathogenicunknown

(56 web hits)

KCNQ1 A341Vinsufficiently evaluated pathogenicunknown

(485 web hits)

KCNQ1 G345Einsufficiently evaluated pathogenicunknown

(20 web hits)

KCNQ1 R401Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
KCNQ1 P408Ainsufficiently evaluated none, f=0.003unknown

(8 web hits)

var-GS19129-1100-36-ASM
KCNQ1 P448Rinsufficiently evaluated none, f=0.023unknown

(70 web hits)

var-GS18555-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
KCNQ1 T473Minsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
KCNQ1 A486Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
KCNQ1 E487Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
KCNQ1 R518Xinsufficiently evaluated pathogenic, f=0.000unknown

(70 web hits)

KCNQ1 A525Tinsufficiently evaluated pathogenicunknown

(19 web hits)

KCNQ1 R555Cinsufficiently evaluated pathogenicunknown

(103 web hits)

KCNQ1 R583Cinsufficiently evaluated pathogenicunknown

(39 web hits)

KCNQ1 T587Minsufficiently evaluated pathogenicunknown

(143 web hits)

KCNQ1 G589Dinsufficiently evaluated pathogenicunknown

(212 web hits)

KCNQ1 T600Minsufficiently evaluated not reviewed, f=0.001unknown

(4 web hits)

hu3215A7 build 36 substitution variants
var-GS19239-1100-36-ASM
hu728FFF build 36 substitution variants
KCNQ1 G643Sinsufficiently evaluated pharmacogenetic, f=0.007unknown

(60 web hits)

var-GS18942-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
KCNQ1 S1570Linsufficiently evaluated pathogenicunknown

(19 web hits)

Page: 1 2 3 4
Total results: 38

Gene search

"GENE" or "GENE A123C":

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