GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCA3 L101Pinsufficiently evaluated pathogenicunknown

(16 web hits)

ABCA3 A217Vinsufficiently evaluated not reviewedunknown
ABCA3 R288Kinsufficiently evaluated not reviewed, f=0.006unknown var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
ABCA3 E292Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ABCA3 L316LFLinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS06985-1100-36-ASM
ABCA3 L326Pinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA3 F353Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
ABCA3 N568Dinsufficiently evaluated pathogenicunknown

(21 web hits)

ABCA3 L654Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS18947-1100-36-ASM
ABCA3 P766Sinsufficiently evaluated none, f=0.001unknown
ABCA3 W1142Xinsufficiently evaluated pathogenicunknown

(6 web hits)

ABCA3 R1174Winsufficiently evaluated not reviewedunknown
ABCA3 R1367Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
ABCA3 R1393Qinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_D01_200_37
ABCA3 L1553Pinsufficiently evaluated pathogenicunknown

(16 web hits)

ABCA3 Q1591Pinsufficiently evaluated pathogenicunknown

(15 web hits)

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Total results: 16

Gene search

"GENE" or "GENE A123C":

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