"Ambry Genetics"[submitter] AND "ALDH1L2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228814	NM_001034173.4(ALDH1L2):c.2761C>G (p.Leu921Val)	ALDH1L2 (L921V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548232	NM_001034173.4(ALDH1L2):c.2525A>C (p.Asp842Ala)	ALDH1L2 (D842A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377507	NM_001034173.4(ALDH1L2):c.2431G>A (p.Val811Met)	ALDH1L2 (V811M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109318	NM_001034173.4(ALDH1L2):c.2389G>A (p.Gly797Arg)	ALDH1L2 (G797R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294282	NM_001034173.4(ALDH1L2):c.2243T>C (p.Val748Ala)	ALDH1L2 (V748A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109312	NM_001034173.4(ALDH1L2):c.2198G>A (p.Arg733Gln)	ALDH1L2 (R733Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363337	NM_001034173.4(ALDH1L2):c.2168A>C (p.Asn723Thr)	ALDH1L2 (N723T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109306	NM_001034173.4(ALDH1L2):c.2119T>C (p.Cys707Arg)	ALDH1L2 (C707R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248991	NM_001034173.4(ALDH1L2):c.2107A>G (p.Ile703Val)	ALDH1L2 (I703V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359090	NM_001034173.4(ALDH1L2):c.2077C>T (p.Leu693Phe)	ALDH1L2 (L693F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109298	NM_001034173.4(ALDH1L2):c.1982A>C (p.His661Pro)	ALDH1L2 (H661P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507474	NM_001034173.4(ALDH1L2):c.1927G>T (p.Val643Phe)	ALDH1L2 (V643F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109291	NM_001034173.4(ALDH1L2):c.1868C>T (p.Thr623Met)	ALDH1L2 (T623M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109288	NM_001034173.4(ALDH1L2):c.1723C>A (p.Arg575Ser)	ALDH1L2 (R575S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211662	NM_001034173.4(ALDH1L2):c.1675G>A (p.Asp559Asn)	ALDH1L2 (D559N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606397	NM_001034173.4(ALDH1L2):c.1638G>A (p.Met546Ile)	ALDH1L2 (M546I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495062	NM_001034173.4(ALDH1L2):c.1614G>C (p.Leu538Phe)	ALDH1L2 (L538F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109275	NM_001034173.4(ALDH1L2):c.1541C>T (p.Ala514Val)	ALDH1L2 (A514V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109267	NM_001034173.4(ALDH1L2):c.1420G>A (p.Val474Ile)	ALDH1L2 (V474I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109264	NM_001034173.4(ALDH1L2):c.1384A>T (p.Thr462Ser)	ALDH1L2 (T462S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520151	NM_001034173.4(ALDH1L2):c.1220G>A (p.Gly407Asp)	ALDH1L2 (G407D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2550200	NM_001034173.4(ALDH1L2):c.926C>T (p.Thr309Met)	ALDH1L2 (T309M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109368	NM_001034173.4(ALDH1L2):c.919G>C (p.Ala307Pro)	ALDH1L2 (A307P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109365	NM_001034173.4(ALDH1L2):c.880A>G (p.Thr294Ala)	ALDH1L2 (T294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375108	NM_001034173.4(ALDH1L2):c.877G>A (p.Val293Ile)	ALDH1L2 (V293I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599243	NM_001034173.4(ALDH1L2):c.817A>C (p.Asn273His)	ALDH1L2 (N273H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296286	NM_001034173.4(ALDH1L2):c.678G>T (p.Gln226His)	ALDH1L2 (Q226H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472940	NM_001034173.4(ALDH1L2):c.652G>C (p.Glu218Gln)	ALDH1L2 (E218Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109349	NM_001034173.4(ALDH1L2):c.640C>T (p.Pro214Ser)	ALDH1L2 (P214S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109345	NM_001034173.4(ALDH1L2):c.593T>C (p.Met198Thr)	ALDH1L2 (M198T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553134	NM_001034173.4(ALDH1L2):c.317C>G (p.Pro106Arg)	ALDH1L2 (P106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109335	NM_001034173.4(ALDH1L2):c.292G>A (p.Val98Met)	ALDH1L2 (V98M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588632	NM_001034173.4(ALDH1L2):c.287G>C (p.Arg96Thr)	ALDH1L2 (R96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342383	NM_001034173.4(ALDH1L2):c.259A>G (p.Thr87Ala)	ALDH1L2 (T87A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366308	NM_001034173.4(ALDH1L2):c.200C>T (p.Ala67Val)	ALDH1L2 (A67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536722	NM_001034173.4(ALDH1L2):c.142G>T (p.Val48Leu)	ALDH1L2 (V48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262197	NM_001034173.4(ALDH1L2):c.130G>C (p.Glu44Gln)	ALDH1L2 (E44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341553	NM_001034173.4(ALDH1L2):c.124C>T (p.Arg42Cys)	ALDH1L2 (R42C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2298892	NM_001034173.4(ALDH1L2):c.29G>C (p.Arg10Pro)	ALDH1L2, LOC130008641 (R10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 39