GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FGFR1 G48Sinsufficiently evaluated pathogenicunknown

(19 web hits)

FGFR1 D133Delinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS000006909
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FGFR1 A167Sinsufficiently evaluated pathogenicunknown

(6 web hits)

FGFR1 G237Sinsufficiently evaluated pathogenicunknown

(19 web hits)

FGFR1 R250Qinsufficiently evaluated pathogenicunknown

(19 web hits)

FGFR1 P252Rinsufficiently evaluated pathogenicunknown

(140 web hits)

FGFR1 I300Tinsufficiently evaluated pathogenic, f=0.001unknown

(11 web hits)

FGFR1 N330Iinsufficiently evaluated pathogenicunknown

(11 web hits)

FGFR1 L342Sinsufficiently evaluated pathogenicunknown

(13 web hits)

FGFR1 P366Linsufficiently evaluated pathogenicunknown

(16 web hits)

FGFR1 Y372Cinsufficiently evaluated pathogenicunknown

(12 web hits)

FGFR1 C379Rinsufficiently evaluated pathogenicunknown

(9 web hits)

FGFR1 C381Rinsufficiently evaluated pathogenicunknown

(9 web hits)

FGFR1 R470Linsufficiently evaluated pathogenicunknown

(10 web hits)

FGFR1 V607Minsufficiently evaluated pathogenicunknown

(6 web hits)

FGFR1 R609Xinsufficiently evaluated pathogenicunknown

(22 web hits)

FGFR1 R622Xinsufficiently evaluated pathogenicunknown

(20 web hits)

FGFR1 W666Rinsufficiently evaluated pathogenicunknown

(6 web hits)

FGFR1 Q680Xinsufficiently evaluated pathogenicunknown

(29 web hits)

FGFR1 P681Sinsufficiently evaluated not reviewedunknown
FGFR1 P683Sinsufficiently evaluated not reviewedunknown
FGFR1 P722Sinsufficiently evaluated pathogenicunknown

(23 web hits)

FGFR1 P735Sinsufficiently evaluated not reviewedunknown
FGFR1 P762Sinsufficiently evaluated not reviewedunknown
FGFR1 Q764Hinsufficiently evaluated pathogenicunknown

(3 web hits)

FGFR1 D768Yinsufficiently evaluated pathogenicunknown

(5 web hits)

FGFR1 P770Sinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS00253-DNA_B02_200_37
FGFR1 P772Sinsufficiently evaluated pathogenic, f=0.016dominant

(5 web hits)

var-GS19020-1100-36-ASM
FGFR1 P803Sinsufficiently evaluated not reviewedunknown
FGFR1OP A190Ginsufficiently evaluated none, f=0.009unknown

(1 web hit)

var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
FGFR1OP T204Iinsufficiently evaluated not reviewed, f=0.015unknown var-GS18526-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
FGFR1OP A257Pinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
FGFR1OP K271Ninsufficiently evaluated not reviewed, f=0.017unknown var-GS18526-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
FGFR1OP A277Pinsufficiently evaluated none, f=0.022unknown var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
FGFR1OP S301Pinsufficiently evaluated not reviewed, f=0.015unknown var-GS18526-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
FGFR1OP V345Ainsufficiently evaluated not reviewedunknown
FGFR1OP V365Ainsufficiently evaluated not reviewedunknown
FGFR1OP2 M67Tinsufficiently evaluated none, f=0.000unknown
FGFR1OP2 S253Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
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Total results: 39

Gene search

"GENE" or "GENE A123C":

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