GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SMARCAL1 R17Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SMARCAL1 Q34Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SMARCAL1 A43Tinsufficiently evaluated none, f=0.017unknown var-GS19020-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
SMARCAL1 R114Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19670-1100-36-ASM
SMARCAL1 S315Rinsufficiently evaluated none, f=0.047unknown

(3 web hits)

var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18517-1100-36-ASM
SMARCAL1 E377Qinsufficiently evaluated none, f=0.034unknown

(1 web hit)

var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18947-1100-36-ASM
SMARCAL1 S415Ginsufficiently evaluated none, f=0.009unknown var-GS19703-1100-36-ASM
var-GS19129-1100-36-ASM
SMARCAL1 P486Shiftpathogenicrecessive

No known reports, predicted to be very damaging. Other recessive mutations in this gene cause Schimke Immunoosseous Dysplasia.

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS00253-DNA_B01_200_37
SMARCAL1 V512Minsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
SMARCAL1 I548Ninsufficiently evaluated pathogenicunknown

(2 web hits)

SMARCAL1 R586Winsufficiently evaluated pathogenicunknown

(7 web hits)

SMARCAL1 T592Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
SMARCAL1 R645Cinsufficiently evaluated pathogenicunknown

(4 web hits)

SMARCAL1 D756Ninsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
SMARCAL1 E848Xinsufficiently evaluated pathogenicunknown

(19 web hits)

SMARCAL1 SA910TSinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_D01_200_37
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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