"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ALDH7A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682902	NM_001182.5(ALDH7A1):c.1400T>C (p.Ile467Thr)	ALDH7A1 (I403T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002081	NM_001182.5(ALDH7A1):c.1073G>A (p.Arg358Gln)	ALDH7A1 (R330Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 204832	NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)	ALDH7A1 (R335Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 653833	NM_001182.5(ALDH7A1):c.843G>C (p.Gln281His)	ALDH7A1 (Q281H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907175	NM_001182.5(ALDH7A1):c.500C>T (p.Pro167Leu)	ALDH7A1 (P167L +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GUncertain significance
Select item 204866	NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His)	ALDH7A1 (R3H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance

ClinVar