"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC129995 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035102	NM_001080.3(ALDH5A1):c.-9G>A	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (5 prime UTR variant)	ALDH5A1-related disorder	GLikely benign
Select item 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	ALDH5A1, GPLD1 +1 more (C4G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 596498	NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)	ALDH5A1, LOC129995978 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 285783	NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)	ALDH5A1, GPLD1 +1 more (G36R)	Single nucleotide variant (missense variant)	ALDH5A1-related disorder +3 more	GBenign
Select item 356126	NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)	LOC129995978, ALDH5A1 +1 more (L44V)	Single nucleotide variant (missense variant)	ALDH5A1-related disorder +2 more	GBenign/Likely benign
Select item 724868	NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

ClinVar