GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MLL2 R83Qinsufficiently evaluated not reviewed, f=0.023unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
MLL2 A476Tinsufficiently evaluated not reviewed, f=0.093unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18517-1100-36-ASM
MLL2 P719Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
MLL2 RPEEPHLSP755Delinsufficiently evaluated not reviewed, f=0.039unknown var-GS19239-1100-36-ASM
MLL2 H769Yinsufficiently evaluated noneunknown
MLL2 P813Linsufficiently evaluated not reviewed, f=0.038unknown CGI sample GS00253-DNA_E01_200_37
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MLL2 P1191Linsufficiently evaluated none, f=0.001unknown CGI sample GS00253-DNA_A01_200_37
MLL2 T1246Minsufficiently evaluated none, f=0.002unknown CGI sample GS00253-DNA_A01_200_37
CGI sample GS00253-DNA_H01_200_37
MLL2 P1295Sinsufficiently evaluated not reviewed, f=0.008unknown
MLL2 G1323Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
MLL2 I1344Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
MLL2 V1432Shiftinsufficiently evaluated not revieweddominant

Nonsense or frameshift alleles of this gene are associated with the autosomal dominant disease Kabuki syndrome. As PGP89 is not affected, this is likely a sequencing error.

CGI sample GS01669-DNA_B05 from PGP sample 86486261
MLL2 D1438Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
MLL2 A1718Ginsufficiently evaluated not reviewedunknown
MLL2 N2085Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
MLL2 S2251Linsufficiently evaluated not reviewed, f=0.001unknown var-GS07357-1100-36-ASM
MLL2 P2382Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS18947-1100-36-ASM
var-GS18940-1100-36-ASM
MLL2 P2400Ainsufficiently evaluated none, f=0.000unknown
MLL2 N2517Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
MLL2 P2557Linsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_G01_200_37
MLL2 G2569Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
MLL2 A3183Pinsufficiently evaluated not reviewed, f=0.009unknown var-GS19700-1100-36-ASM
MLL2 M3349Vinsufficiently evaluated none, f=0.000unknown
MLL2 M3398Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
MLL2 V3438Minsufficiently evaluated noneunknown
MLL2 QQ3755HKinsufficiently evaluated not reviewed, f=0.015unknown var-GS19735-1100-36-ASM
MLL2 L3906Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
MLL2 Q3934Rinsufficiently evaluated not reviewedunknown
MLL2 Q3949Xinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
MLL2 S4010Pinsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
MLL2 A4127Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B01_200_37
MLL2 P4175Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
MLL2 Q4262Hinsufficiently evaluated not reviewedunknown
MLL2 P4349Ainsufficiently evaluated not reviewed, f=0.003unknown var-GS19834-1100-36-ASM
MLL2 V4639Minsufficiently evaluated not reviewed, f=0.009unknown var-GS18947-1100-36-ASM
MLL2 P4684Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
MLL2 P4920Ainsufficiently evaluated not reviewed, f=0.008unknown
MLL2 R5224Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
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Total results: 38

Gene search

"GENE" or "GENE A123C":

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