"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ALDH7A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 419377	NM_001182.5(ALDH7A1):c.1565+1G>T	ALDH7A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204852	NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)	ALDH7A1 (G505R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 17994	NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	ALDH7A1 (E399Q +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +3 more	GPathogenic/Likely pathogenic
Select item 128345	NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)	ALDH7A1 (T412A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 204841	NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr)	ALDH7A1 (R349T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 204839	NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg)	ALDH7A1 (Q287R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128348	NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)	ALDH7A1 (I125V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

ClinVar