"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ALDH3A2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322208	NM_000382.3(ALDH3A2):c.386-6A>G	ALDH3A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 559248	NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 322210	NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)	ALDH3A2 (A188V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 559249	NM_000382.3(ALDH3A2):c.941-1_941insGGG	ALDH3A2	Insertion (splice acceptor variant)	not provided	GUncertain significance
Select item 559250	NM_000382.3(ALDH3A2):c.941_942insTAAAAGTA (p.Pro315fs)	ALDH3A2 (P122fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 559251	NM_000382.3(ALDH3A2):c.943delinsTGTTGGGG (p.Pro315fs)	ALDH3A2 (P122fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3380476	NM_000382.3(ALDH3A2):c.1064G>A (p.Arg355His)	ALDH3A2 (R162H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559252	NM_000382.3(ALDH3A2):c.1208-30A>C	ALDH3A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 283733	NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)	ALDH3A2 (P424S +1 more)	Single nucleotide variant (missense variant +1 more)	Sjögren-Larsson syndrome +2 more	GBenign/Likely benign
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 1642	NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)	ALDH3A2 (L438fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1084452	NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)	ALDH3A2 (F278S +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 322219	NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)	ALDH3A2 (R404*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign