"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687855	NM_001182.5(ALDH7A1):c.1548C>A (p.Tyr516Ter)	ALDH7A1 (Y452* +2 more)	Single nucleotide variant (nonsense)	not specified	GLikely pathogenic
Select item 17994	NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	ALDH7A1 (E399Q +2 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic/Likely pathogenic
Select item 3064857	NM_001182.5(ALDH7A1):c.877dup (p.Ser293fs)	ALDH7A1 (S265fs +1 more)	Duplication (frameshift variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 3064148	NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile)	ALDH7A1 (F168I +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy	GLikely pathogenic
Select item 17995	NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)	ALDH7A1 (R82* +1 more)	Single nucleotide variant (nonsense)	See cases +5 more	GPathogenic
Select item 3068149	NM_001182.5(ALDH7A1):c.79G>A (p.Ala27Thr)	ALDH7A1 (A27T)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy	GUncertain significance

ClinVar