"Laboratory of Metabolic Disorders, Peking University First Hospital"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506510	NM_001080.3(ALDH5A1):c.85_116del (p.Gly29fs)	ALDH5A1, GPLD1 +1 more (G29fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2506504	NM_001080.3(ALDH5A1):c.206_222dup (p.Thr75fs)	ALDH5A1, GPLD1 +1 more (T75fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic