GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
UGT1A1 C1Xinsufficiently evaluated pathogenicunknown

(8 web hits)

UGT1A1 G8Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_B02_200_37
UGT1A1 R9Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
UGT1A1 L15Rinsufficiently evaluated pathogenicunknown

(12 web hits)

UGT1A1 G71Rlikely pathogenic, f=0.001other

This variant, also known as UGT1A1*6, is associated with Gilbert syndrome (found in ~5% of the population) and transient hyperbilirubinemia in infants in east asian populations. This allele appears to have incomplete penetrance and causes reduced enzyme activity.

(461 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_B01 from PGP sample 86206034
UGT1A1 F83Iinsufficiently evaluated not reviewedunknown
UGT1A1 L175Qinsufficiently evaluated pathogenicunknown

(12 web hits)

UGT1A1 G211Ainsufficiently evaluated pharmacogeneticunknown

(37 web hits)

UGT1A1 P229Einsufficiently evaluated pharmacogeneticunknown
UGT1A1 P229Qinsufficiently evaluated pathogenicunknown

(142 web hits)

UGT1A1 G309Einsufficiently evaluated pathogenicunknown

(2 web hits)

UGT1A1 Q331Rinsufficiently evaluated pathogenicunknown

(11 web hits)

UGT1A1 Q331Xinsufficiently evaluated pathogenicunknown

(10 web hits)

UGT1A1 R341Xinsufficiently evaluated pathogenicunknown

(15 web hits)

UGT1A1 Q357Rinsufficiently evaluated pathogenicunknown

(25 web hits)

UGT1A1 R367Ginsufficiently evaluated not reviewedunknown

(27 web hits)

UGT1A1 S376Finsufficiently evaluated pathogenicunknown

(12 web hits)

UGT1A1 N400Dinsufficiently evaluated pathogenicunknown

(24 web hits)

UGT1A1 Y486Dinsufficiently evaluated pathogenicunknown

(182 web hits)

UGT1A1 Y486Ninsufficiently evaluated not reviewedunknown
UGT1A10 E139Kinsufficiently evaluated noneunknown

(3 web hits)

UGT1A10 L244Iinsufficiently evaluated noneunknown

(5 web hits)

UGT1A10 R364Ginsufficiently evaluated not reviewedunknown

(8 web hits)

UGT1A10 Y483Ninsufficiently evaluated not reviewedunknown

(2 web hits)

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Total results: 24

Gene search

"GENE" or "GENE A123C":

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