GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLX4 G83Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
SLX4 G141Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18517-1100-36-ASM
SLX4 R204Cinsufficiently evaluated not reviewed, f=0.071unknown var-GS18501-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18517-1100-36-ASM
SLX4 P385Tinsufficiently evaluated not reviewed, f=0.009unknown var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
SLX4 M386Vinsufficiently evaluated not reviewed, f=0.065unknown var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18517-1100-36-ASM
SLX4 R411Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS20509-1100-36-ASM
SLX4 N457Kinsufficiently evaluated not reviewed, f=0.065unknown var-GS18501-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18517-1100-36-ASM
SLX4 S601Linsufficiently evaluated not reviewed, f=0.003unknown var-GS19129-1100-36-ASM
SLX4 G633Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
SLX4 L671Sinsufficiently evaluated not reviewed, f=0.076unknown var-GS18501-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18517-1100-36-ASM
SLX4 A683Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
SLX4 E701Dinsufficiently evaluated not reviewed, f=0.003unknown var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
SLX4 I718Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
SLX4 P764Ainsufficiently evaluated not reviewed, f=0.003unknown var-GS18502-1100-36-ASM
SLX4 A916Sinsufficiently evaluated not reviewed, f=0.012unknown var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM
SLX4 T919Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
SLX4 P929Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
SLX4 E942Qinsufficiently evaluated not reviewed, f=0.018unknown var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
SLX4 A952Minsufficiently evaluated not reviewed, f=0.023unknown var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
SLX4 A952Tinsufficiently evaluated not reviewed, f=0.080unknown var-GS18501-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
SLX4 A952Vinsufficiently evaluated not reviewed, f=0.047unknown hu232307 build 36 substitution variants
SLX4 P975Linsufficiently evaluated not reviewed, f=0.005unknown var-GS21767-1100-36-ASM
SLX4 R1060Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
SLX4 G1113Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
SLX4 P1122Linsufficiently evaluated not reviewed, f=0.216unknown var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
SLX4 A1221Vinsufficiently evaluated not reviewed, f=0.049unknown hu232307 build 36 substitution variants
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
SLX4 S1271Finsufficiently evaluated not reviewed, f=0.040unknown var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS20509-1100-36-ASM
SLX4 R1372Qinsufficiently evaluated not reviewed, f=0.011unknown var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM
SLX4 G1396Shiftpathogenic, f=0.009recessive

Unreported, predicted to be damaging. Other severe recessive mutations in this gene reported to cause Fanconi anemia.

CGI sample GS00253-DNA_E01_200_37
SLX4 C1427Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
SLX4 G1534Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
SLX4 P1677Sinsufficiently evaluated not reviewed, f=0.004unknown hu3215A7 build 36 substitution variants
SLX4 S1716Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS19129-1100-36-ASM
SLX4 E1733Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
SLX4 R1761Cinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
SLX4 N1834Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS06985-1100-36-ASM
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Total results: 36

Gene search

"GENE" or "GENE A123C":

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