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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHCY
(A50T +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GConflicting classifications of pathogenicity
AHCY
(R36W +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely pathogenic