GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ANK1 D45Einsufficiently evaluated not reviewedunknown

(1 web hit)

ANK1 N108Yinsufficiently evaluated noneunknown
ANK1 N155Yinsufficiently evaluated noneunknown
ANK1 Y166Finsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
ANK1 N218Kinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants (hom)
ANK1 N251Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ANK1 D260Ginsufficiently evaluated noneunknown
ANK1 R281Sinsufficiently evaluated not reviewedunknown CGI sample GS000006909
ANK1 D293Ginsufficiently evaluated noneunknown

(1 web hit)

ANK1 A329Suncertain benign, f=0.008unknown

Rare. Other variants in this gene reported to cause spherocytosis in a recessive manner but examples listed on OMIM are more severe termination or frameshift variants. Because it is less severe, this variant is tentatively presumed non-pathogenic.

ANK1 A362Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
ANK1 D366Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
ANK1 L555Quncertain benign, f=0.008unknown

Rare. Other variants in this gene reported to cause spherocytosis in a recessive manner but examples listed on OMIM are more severe termination or frameshift variants. Because it is less severe, this variant is tentatively presumed non-pathogenic.

ANK1 E557Ginsufficiently evaluated noneunknown
ANK1 E590Ginsufficiently evaluated noneunknown
ANK1 R619Hinsufficiently evaluated none, f=0.081unknown var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
ANK1 R652Hinsufficiently evaluated none, f=0.052unknown CGI sample GS000006909
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
hu728FFF build 36 substitution variants
ANK1 R832Qinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ANK1 R873Qinsufficiently evaluated none, f=0.006unknown

(2 web hits)

ANK1 A944Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
ANK1 D1058Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
ANK1 T1075Iinsufficiently evaluated none, f=0.008unknown

(7 web hits)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
ANK1 T1116Iinsufficiently evaluated none, f=0.016unknown

(6 web hits)

ANK1 S1214Linsufficiently evaluated noneunknown

(1 web hit)

ANK1 S1255Linsufficiently evaluated none, f=0.000unknown

(1 web hit)

ANK1 V1284Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ANK1 M1325Vinsufficiently evaluated none, f=0.063unknown var-GS19020-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
ANK1 M1366Vinsufficiently evaluated none, f=0.044unknown
ANK1 A1462Vinsufficiently evaluated not reviewed, f=0.016unknown var-GS19649-1100-36-ASM
ANK1 R1577Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
ANK1 A1621Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ANK1 T1625Ainsufficiently evaluated not reviewedunknown
ANK1 T1666Ainsufficiently evaluated not reviewedunknown
ANK1 E1669Xinsufficiently evaluated pathogenicunknown
ANK1 N1718Yinsufficiently evaluated noneunknown
ANK1 W1721Xinsufficiently evaluated pathogenicunknown
ANK1 R1833Xinsufficiently evaluated pathogenicunknown
ANK1 N1855Yinsufficiently evaluated noneunknown
ANK1 N1880Yinsufficiently evaluated noneunknown
ANK1 N1896Yinsufficiently evaluated noneunknown
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Total results: 40

Gene search

"GENE" or "GENE A123C":

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