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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLDC
(W897L)
Single nucleotide variant
(missense variant)
Non-ketotic hyperglycinemia
GUncertain significance
GLDC
(L851R)
Single nucleotide variant
(missense variant)
Non-ketotic hyperglycinemia
GUncertain significance
GLDC
(Y839C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GLDC
(F576V)
Single nucleotide variant
(missense variant)
Non-ketotic hyperglycinemia
GUncertain significance
GLDC
Deletion
(splice acceptor variant)
Non-ketotic hyperglycinemia
+2 more
GConflicting classifications of pathogenicity
GLDC
(R373W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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