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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
(L275fs +2 more)
Deletion
(frameshift variant)
not provided
+6 more
GPathogenic
SLC37A4
(G339C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SLC37A4
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SLC37A4
(Q248* +1 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
+1 more
GPathogenic/Likely pathogenic
SLC37A4
(S142L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC37A4
(A104V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC37A4
(R28H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC37A4
(N27S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC37A4
(S15P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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