GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MLC1 G59Einsufficiently evaluated pathogenicunknown

(8 web hits)

MLC1 N74Tinsufficiently evaluated noneunknown
MLC1 P92Sinsufficiently evaluated pathogenicunknown

(7 web hits)

MLC1 S93Linsufficiently evaluated pathogenicunknown

(38 web hits)

MLC1 N141Kinsufficiently evaluated pathogenicunknown
MLC1 N141Sinsufficiently evaluated pathogenicunknown
MLC1 C171Finsufficiently evaluated not reviewed, f=0.106unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
MLC1 Y198Xinsufficiently evaluated pathogenicunknown
MLC1 V200Finsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
MLC1 V201Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
MLC1 N218Kuncertain benign, f=0.003unknown

Probably benign.

(6 web hits)

CGI sample GS00253-DNA_B02_200_37
MLC1 S280Linsufficiently evaluated pathogenicunknown

(11 web hits)

MLC1 V327Minsufficiently evaluated noneunknown
MLC1 N344Sinsufficiently evaluated none, f=0.103unknown

(2 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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