GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FLT4 S26Ainsufficiently evaluated not reviewed, f=0.010unknown var-GS19020-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
FLT4 N149Duncertain benign, f=0.073unknown

Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000006909 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_B07 from PGP sample 61499538
FLT4 H199Sinsufficiently evaluated not reviewed, f=0.010unknown var-GS19670-1100-36-ASM
FLT4 V300Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
FLT4 E350Vinsufficiently evaluated not reviewed, f=0.005unknown
FLT4 Q441Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
var-GS18505-1100-36-ASM
FLT4 T494Ainsufficiently evaluated not reviewed, f=0.089unknown

(6 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
FLT4 N527Sinsufficiently evaluated none, f=0.031unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
FLT4 P641Sinsufficiently evaluated not reviewed, f=0.004unknown

(8 web hits)

CGI sample GS00253-DNA_D01_200_37
var-GS06985-1100-36-ASM
FLT4 A855Tinsufficiently evaluated pathogenicunknown

(1 web hit)

FLT4 G857Rinsufficiently evaluated pathogenicunknown

(13 web hits)

FLT4 V878Minsufficiently evaluated pathogenicunknown

(1 web hit)

FLT4 H890Qinsufficiently evaluated none, f=0.597unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FLT4 P954Sinsufficiently evaluated pathogenic, f=0.004recessive

This variant was found in 1/15 infantile hemangioma specimens (a benign tumor in infants).

(19 web hits)

FLT4 H1035Rinsufficiently evaluated pathogenicunknown

(8 web hits)

FLT4 R1041Pinsufficiently evaluated pathogenicunknown

(10 web hits)

FLT4 L1044Pinsufficiently evaluated pathogenicunknown

(7 web hits)

FLT4 I1086Tinsufficiently evaluated pathogenicunknown

(1 web hit)

FLT4 E1106Kinsufficiently evaluated pathogenicunknown

(12 web hits)

FLT4 P1114Linsufficiently evaluated pathogenicunknown

(17 web hits)

FLT4 P1126Linsufficiently evaluated pathogenicunknown

(2 web hits)

FLT4 R1146Hinsufficiently evaluated none, f=0.073unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
FLT4 R1251Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19700-1100-36-ASM
FLT4 G1303Ainsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
FLT4 R1320Qinsufficiently evaluated not reviewed, f=0.024unknown var-GS19025-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
FLT4 R1321Qinsufficiently evaluated none, f=0.012unknown CGI sample GS00253-DNA_A02_200_37
FLT4 R1324Linsufficiently evaluated not reviewed, f=0.090unknown

(1 web hit)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_A01_200_37
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
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Total results: 27

Gene search

"GENE" or "GENE A123C":

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