GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FLNA A39Ginsufficiently evaluated pathogenicunknown

(26 web hits)

FLNA E82Vinsufficiently evaluated pathogenicunknown

(3 web hits)

FLNA A128Vinsufficiently evaluated pathogenicunknown

(11 web hits)

FLNA Q182Xinsufficiently evaluated pathogenicunknown
FLNA R196Winsufficiently evaluated pathogenicunknown

(4 web hits)

FLNA D203Yinsufficiently evaluated pathogenicunknown

(13 web hits)

FLNA P207Linsufficiently evaluated pathogenicunknown

(5 web hits)

FLNA C210Finsufficiently evaluated pathogenicunknown

(4 web hits)

FLNA E254Kinsufficiently evaluated pathogenicunknown

(14 web hits)

FLNA T429Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
FLNA V528Minsufficiently evaluated pathogenic, f=0.011dominant

This X-linked variant was identified in a heterozygous Japanese female with bilateral periventricular heterotopias.

var-GS18537-1100-36-ASM
FLNA R634Ginsufficiently evaluated not reviewedunknown
FLNA L656Finsufficiently evaluated pathogenicunknown

(5 web hits)

FLNA N931Dinsufficiently evaluated not reviewed, f=0.011unknown var-GS18947-1100-36-ASM
FLNA S1012Linsufficiently evaluated none, f=0.048unknown

(4 web hits)

var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
FLNA D1159Ainsufficiently evaluated pathogenicunknown

(3 web hits)

FLNA S1186Linsufficiently evaluated pathogenicunknown

(5 web hits)

FLNA A1188Tinsufficiently evaluated pathogenicunknown

(4 web hits)

FLNA S1199Linsufficiently evaluated pathogenicunknown

(5 web hits)

FLNA Q1238Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
FLNA P1291Linsufficiently evaluated pathogenic, f=0.000unknown

(9 web hits)

FLNA C1453Finsufficiently evaluated none, f=0.011unknown var-GS18555-1100-36-ASM
FLNA G1728Cinsufficiently evaluated pathogenicunknown

(3 web hits)

FLNA A1756Tinsufficiently evaluated noneunknown
FLNA A1764Tinsufficiently evaluated pathogenic, f=0.043dominant

Associated with periventricular nodular heterotopia in a sporadic female case.

(2 web hits)

var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
FLNA Q2333Linsufficiently evaluated not reviewedunknown
FLNA Q2341Linsufficiently evaluated not reviewedunknown
FLNA S2526Ninsufficiently evaluated not reviewed, f=0.011unknown var-GS21767-1100-36-ASM
Page: 1 2 3
Total results: 28

Gene search

"GENE" or "GENE A123C":

Log in