"3billion"[submitter] AND "ALDH18A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216888	NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	ALDH18A1 (R765Q +5 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +4 more	GConflicting classifications of pathogenicity
Select item 807367	NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	ALDH18A1 (R636Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1333373	NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs)	ALDH18A1 (V321fs +5 more)	Deletion (frameshift variant)	Autosomal recessive complex spastic paraplegia type 9B	GLikely pathogenic
Select item 1333680	NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val)	ALDH18A1 (A282V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive complex spastic paraplegia type 9B	GLikely pathogenic
Select item 217259	NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	ALDH18A1 (R138W +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3 +4 more	GPathogenic
Select item 2431929	NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)	ALDH18A1 (R126H +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 3	GLikely pathogenic

ClinVar