GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ASPA E24Ginsufficiently evaluated pathogenicunknown

(25 web hits)

ASPA R71Hinsufficiently evaluated pathogenicunknown

(13 web hits)

ASPA M82Tinsufficiently evaluated none, f=0.004unknown var-GS19129-1100-36-ASM
ASPA C152Rinsufficiently evaluated pathogenicunknown

(2 web hits)

ASPA I170Tinsufficiently evaluated not reviewed, f=0.001unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
ASPA C218Xinsufficiently evaluated pathogenicunknown

(6 web hits)

ASPA Y231Cinsufficiently evaluated pathogenicrecessive

This variant is associated with Canavan Disease

(32 web hits)

ASPA Y231Xinsufficiently evaluated pathogenicrecessive

Canavan Disease

(103 web hits)

ASPA D249Vinsufficiently evaluated pathogenicunknown

(24 web hits)

ASPA E285Apathogenic, f=0.000recessive

Causes Canavan disease in a recessive manner, a fatal neurological disorder. Three sources have recorded this in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002723), and multiple supporting publications. This variant is reported to account for the majority of disease-causing alleles in European studies, e.g. in Kaul et al 1993 (PMID: 8252036) this variant accounted for 85% of disease-causing alleles.

(125 web hits)

ASPA A305Einsufficiently evaluated pathogenic, f=0.000recessive

Canavan Disease

(107 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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