GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC37A4 R28Hinsufficiently evaluated pathogenicunknown
SLC37A4 W96Xinsufficiently evaluated pathogenicunknown
SLC37A4 W118Rinsufficiently evaluated pathogenicunknown

This variant was reported as a prevalent mutation in Japanese patients with Glycogen storage disease type Ib, a heterogeneous group of autosomal recessive disorders.

(12 web hits)

SLC37A4 N124Iinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_D01_200_37
SLC37A4 Q125Hinsufficiently evaluated not reviewedunknown
SLC37A4 L175Qinsufficiently evaluated not reviewedunknown
SLC37A4 W176Linsufficiently evaluated noneunknown
SLC37A4 N197Iinsufficiently evaluated not reviewed, f=0.008unknown
SLC37A4 Q198Hinsufficiently evaluated not reviewedunknown
SLC37A4 R282Xinsufficiently evaluated not reviewedunknown
SLC37A4 A290Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
SLC37A4 G336Sinsufficiently evaluated not reviewedunknown
SLC37A4 G339Clikely pathogenicrecessive

Reported to cause Glycogen Storage Disease type 1b in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000007330/), and comes from Gerin et al 1997 (PMID: 9428641) who saw this homozygous in one of two patients studied. The variant appears to be quite rare, consistent with this proposed effect.

(2 web hits)

SLC37A4 G339Dinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC37A4 Q353Xinsufficiently evaluated not reviewedunknown
SLC37A4 R355Xinsufficiently evaluated pathogenicrecessive

Mutations in SLC37A4 are responsible for 20% of GSD1, or Glycogen storage disease type I, which is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

SLC37A4 E355Xinsufficiently evaluated pathogenicunknown
SLC37A4 R377Xinsufficiently evaluated not reviewedunknown
SLC37A4 G409Sinsufficiently evaluated noneunknown
SLC37A4 R415Xinsufficiently evaluated pathogenicunknown
SLC37A4 Q426Xinsufficiently evaluated noneunknown
SLC37A4 E427Kinsufficiently evaluated not reviewedunknown
SLC37A4 G431Sinsufficiently evaluated not reviewedunknown
SLC37A4 Q448Xinsufficiently evaluated not reviewedunknown
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Total results: 24

Gene search

"GENE" or "GENE A123C":

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