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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETHE1
(D165G +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
+1 more
GLikely pathogenic
ETHE1
(C161Y +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
+1 more
GLikely pathogenic