GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GALT V44Minsufficiently evaluated pathogenicunknown

(13 web hits)

GALT L62Minsufficiently evaluated pathogenicunknown

(8 web hits)

GALT L74Pinsufficiently evaluated pathogenicunknown

(14 web hits)

GALT S135Linsufficiently evaluated pathogenic, f=0.001unknown

(237 web hits)

GALT T138Minsufficiently evaluated not reviewed, f=0.000unknown

(31 web hits)

GALT M142Kinsufficiently evaluated pathogenicunknown

(18 web hits)

GALT Q169Kinsufficiently evaluated not reviewedunknown

(10 web hits)

GALT F171Sinsufficiently evaluated pathogenicunknown

(31 web hits)

GALT P183Tinsufficiently evaluated pathogenicunknown

(32 web hits)

GALT Q188Rpathogenic, f=0.002recessive

This variant causes classic galactosemia in a recessive manner (when homozygous or combined with another disease-causing variant). This is a metabolic disorder where individuals are unable to metabolize the sugar galactose. Treatment consists of strict dietary avoidance of lactose and galactose. Without treatment children develop permanent and eventually fatal health problems, and even when treated some individuals still have neurological impairment.

(1700 web hits)

var-GS19648-1100-36-ASM
GALT F194Linsufficiently evaluated pathogenicunknown

(17 web hits)

GALT L195Pinsufficiently evaluated not reviewedunknown

(56 web hits)

GALT E203Kinsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

GALT Y209Cinsufficiently evaluated not reviewedunknown

(28 web hits)

GALT K285Ninsufficiently evaluated pathogenic, f=0.000unknown

(1250 web hits)

GALT N314Duncertain benign, f=0.072undefined

This variant has an allele frequency of ~8% and is ancestral to “Duarte” / “Duarte 2” and “Duarte 1”/“Los Angeles” galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5’ of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).

(1580 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37 (hom)
GALT H319Qinsufficiently evaluated pathogenicunknown

(28 web hits)

GALT R333Ginsufficiently evaluated pathogenicunknown

(41 web hits)

GALT R333Winsufficiently evaluated pathogenic, f=0.000unknown

(39 web hits)

GALT X380Rinsufficiently evaluated not reviewedunknown

(38 web hits)

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Total results: 20

Gene search

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