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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCDH, LOC126862860
+1 more
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic
GCDH, LOC126862860
+1 more
(A421T)
Single nucleotide variant
(missense variant +2 more)
Glutaric aciduria, type 1
+1 more
GPathogenic/Likely pathogenic