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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
(V240fs +1 more)
Duplication
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(S57fs)
Deletion
(frameshift variant +1 more)
Glucose-6-phosphate transport defect
GPathogenic/Likely pathogenic
SLC37A4
(F31del)
Deletion
(inframe_deletion +1 more)
Glucose-6-phosphate transport defect
GConflicting classifications of pathogenicity
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
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