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

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2523023	NM_000382.3(ALDH3A2):c.29A>T (p.Gln10Leu)	ALDH3A2 (Q10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1986955	NM_000382.3(ALDH3A2):c.78G>T (p.Gln26His)	ALDH3A2 (Q26H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2046585	NM_000382.3(ALDH3A2):c.133A>G (p.Ile45Val)	ALDH3A2 (I45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2336899	NM_000382.3(ALDH3A2):c.271A>G (p.Met91Val)	ALDH3A2 (M91V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203623	NM_000382.3(ALDH3A2):c.328G>A (p.Ala110Thr)	ALDH3A2 (A110T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613652	NM_000382.3(ALDH3A2):c.572A>C (p.Lys191Thr)	ALDH3A2 (K191T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310294	NM_000382.3(ALDH3A2):c.608C>T (p.Pro203Leu)	ALDH3A2 (P10L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109500	NM_000382.3(ALDH3A2):c.659G>C (p.Cys220Ser)	ALDH3A2 (C27S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150628	NM_000382.3(ALDH3A2):c.668A>G (p.Asp223Gly)	ALDH3A2 (D223G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1503577	NM_000382.3(ALDH3A2):c.670A>G (p.Ile224Val)	ALDH3A2 (I31V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3109512	NM_000382.3(ALDH3A2):c.895A>G (p.Lys299Glu)	ALDH3A2 (K106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380964	NM_000382.3(ALDH3A2):c.947C>T (p.Thr316Ile)	ALDH3A2 (T123I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301529	NM_000382.3(ALDH3A2):c.956C>T (p.Thr319Ile)	ALDH3A2 (T126I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 890169	NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)	ALDH3A2 (K326N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 766017	NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly)	ALDH3A2 (E137G +1 more)	Single nucleotide variant (missense variant)	Sjögren-Larsson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1541105	NM_000382.3(ALDH3A2):c.1047A>G (p.Ile349Met)	ALDH3A2 (I156M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2327116	NM_000382.3(ALDH3A2):c.1079C>T (p.Ala360Val)	ALDH3A2 (A360V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109467	NM_000382.3(ALDH3A2):c.1087G>A (p.Val363Ile)	ALDH3A2 (V170I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3109471	NM_000382.3(ALDH3A2):c.1118G>A (p.Arg373Gln)	ALDH3A2 (R180Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338500	NM_000382.3(ALDH3A2):c.1147G>A (p.Val383Ile)	ALDH3A2 (V190I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3109473	NM_000382.3(ALDH3A2):c.1221G>T (p.Met407Ile)	ALDH3A2 (M214I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109474	NM_000382.3(ALDH3A2):c.1226C>G (p.Ala409Gly)	ALDH3A2 (A409G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321596	NM_000382.3(ALDH3A2):c.1271C>T (p.Pro424Leu)	ALDH3A2 (P231L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597923	NM_000382.3(ALDH3A2):c.1384G>A (p.Glu462Lys)	ALDH3A2 (E269K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1084452	NM_000382.3(ALDH3A2):c.1412T>C (p.Phe471Ser)	ALDH3A2 (F278S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2235566	NM_000382.3(ALDH3A2):c.1443G>A (p.Lys481=)	ALDH3A2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 26