U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
(L275fs +2 more)
Deletion
(frameshift variant)
Congenital disorder of glycosylation, type IIw
+5 more
GPathogenic
SLC37A4
(R300H +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GPathogenic/Likely pathogenic