"Baylor Genetics"[submitter] AND "ALDH3A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189163	NM_000382.3(ALDH3A2):c.471+1del	ALDH3A2	Deletion (splice donor variant)	Sjögren-Larsson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188768	NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	ALDH3A2 (T184M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1030755	NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)	ALDH3A2 (T202N +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome	GUncertain significance
Select item 2582586	NM_000382.3(ALDH3A2):c.681-14T>A	ALDH3A2	Single nucleotide variant (intron variant)	Sjögren-Larsson syndrome +1 more	GLikely pathogenic
Select item 653859	NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)	ALDH3A2 (R228H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 890169	NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)	ALDH3A2 (K326N +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1641	NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)	ALDH3A2 (E240fs +1 more)	Microsatellite (frameshift variant +1 more)	Sjögren-Larsson syndrome +1 more	GPathogenic
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic

ClinVar