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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMT
(R320H +2 more)
Single nucleotide variant
(missense variant +1 more)
Glycine encephalopathy 2
+2 more
GPathogenic
AMT
(R241* +2 more)
Single nucleotide variant
(nonsense +1 more)
Non-ketotic hyperglycinemia
GPathogenic/Likely pathogenic