"Ambry Genetics"[submitter] AND "ALOXE3"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113022	NM_021628.3(ALOXE3):c.2125G>A (p.Val709Ile)	ALOXE3 (V708I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 423346	NM_021628.3(ALOXE3):c.2080G>C (p.Ala694Pro)	ALOXE3 (A694P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 758240	NM_021628.3(ALOXE3):c.2033G>A (p.Arg678His)	ALOXE3 (R678H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2535710	NM_021628.3(ALOXE3):c.1984C>T (p.His662Tyr)	ALOXE3 (H794Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463793	NM_021628.3(ALOXE3):c.1963C>G (p.Leu655Val)	ALOXE3 (L654V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232569	NM_021628.3(ALOXE3):c.1937G>C (p.Ser646Thr)	ALOXE3 (S645T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113004	NM_021628.3(ALOXE3):c.1927T>G (p.Trp643Gly)	ALOXE3 (W643G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288166	NM_021628.3(ALOXE3):c.1913A>T (p.Asn638Ile)	ALOXE3 (N638I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 325958	NM_021628.3(ALOXE3):c.1871C>T (p.Thr624Ile)	ALOXE3 (T624I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2226203	NM_021628.3(ALOXE3):c.1811A>G (p.Asn604Ser)	ALOXE3 (N604S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3112991	NM_021628.3(ALOXE3):c.1777A>G (p.Ser593Gly)	ALOXE3 (S592G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549741	NM_021628.3(ALOXE3):c.1748A>G (p.Asn583Ser)	ALOXE3 (N715S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382239	NM_021628.3(ALOXE3):c.1712G>T (p.Gly571Val)	ALOXE3 (G570V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336294	NM_021628.3(ALOXE3):c.1673G>A (p.Arg558Gln)	ALOXE3 (R690Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112975	NM_021628.3(ALOXE3):c.1637G>C (p.Trp546Ser)	ALOXE3 (W546S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193830	NM_021628.3(ALOXE3):c.1603G>A (p.Ala535Thr)	ALOXE3 (A535T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3112969	NM_021628.3(ALOXE3):c.1586A>G (p.Tyr529Cys)	ALOXE3 (Y529C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112965	NM_021628.3(ALOXE3):c.1585T>C (p.Tyr529His)	ALOXE3 (Y528H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520212	NM_021628.3(ALOXE3):c.1507A>G (p.Ile503Val)	ALOXE3 (I503V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592820	NM_021628.3(ALOXE3):c.1495G>A (p.Gly499Ser)	ALOXE3 (G499S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112958	NM_021628.3(ALOXE3):c.1492C>T (p.Arg498Cys)	ALOXE3 (R497C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258123	NM_021628.3(ALOXE3):c.1453A>C (p.Thr485Pro)	ALOXE3 (T484P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243831	NM_021628.3(ALOXE3):c.1346C>G (p.Thr449Ser)	ALOXE3 (T581S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112953	NM_021628.3(ALOXE3):c.1219A>G (p.Thr407Ala)	ALOXE3, LOC130060198 (T539A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245373	NM_021628.3(ALOXE3):c.1204G>A (p.Val402Met)	ALOXE3, LOC130060198 (V401M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112949	NM_021628.3(ALOXE3):c.1182G>C (p.Trp394Cys)	ALOXE3, LOC130060198 (W526C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208830	NM_021628.3(ALOXE3):c.1021G>C (p.Gly341Arg)	ALOXE3, LOC130060198 (G340R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288203	NM_021628.3(ALOXE3):c.995C>A (p.Ala332Glu)	ALOXE3, LOC130060198 (A464E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113081	NM_021628.3(ALOXE3):c.968T>G (p.Ile323Ser)	ALOXE3 (I323S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113079	NM_021628.3(ALOXE3):c.949G>C (p.Glu317Gln)	ALOXE3 (E317Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471248	NM_021628.3(ALOXE3):c.909G>A (p.Met303Ile)	ALOXE3 (M302I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213021	NM_021628.3(ALOXE3):c.892C>T (p.Pro298Ser)	ALOXE3 (P298S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113073	NM_021628.3(ALOXE3):c.865T>C (p.Cys289Arg)	ALOXE3 (C288R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 325973	NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr)	ALOXE3 (H399Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2525952	NM_021628.3(ALOXE3):c.797A>G (p.Glu266Gly)	ALOXE3 (E266G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113066	NM_021628.3(ALOXE3):c.779C>T (p.Thr260Met)	ALOXE3 (T392M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229965	NM_021628.3(ALOXE3):c.679G>C (p.Ala227Pro)	ALOXE3 (A227P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389097	NM_021628.3(ALOXE3):c.671C>T (p.Ala224Val)	ALOXE3 (A356V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493480	NM_021628.3(ALOXE3):c.667A>G (p.Asn223Asp)	ALOXE3 (N222D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293850	NM_021628.3(ALOXE3):c.614A>G (p.Tyr205Cys)	ALOXE3 (Y337C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113053	NM_021628.3(ALOXE3):c.543C>G (p.Asp181Glu)	ALOXE3 (D181E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305839	NM_021628.3(ALOXE3):c.536G>C (p.Cys179Ser)	ALOXE3 (C311S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113046	NM_021628.3(ALOXE3):c.527C>T (p.Thr176Met)	ALOXE3 (T176M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3113041	NM_021628.3(ALOXE3):c.512T>C (p.Phe171Ser)	ALOXE3 (F171S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113035	NM_021628.3(ALOXE3):c.413G>A (p.Arg138Gln)	ALOXE3 (R270Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2255738	NM_021628.3(ALOXE3):c.413G>C (p.Arg138Pro)	ALOXE3 (R138P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545957	NM_021628.3(ALOXE3):c.256C>G (p.Arg86Gly)	ALOXE3 (R218G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459667	NM_021628.3(ALOXE3):c.232C>T (p.Arg78Cys)	ALOXE3 (R78C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560183	NM_021628.3(ALOXE3):c.217C>A (p.Arg73Ser)	ALOXE3 (R205S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113018	NM_021628.3(ALOXE3):c.203G>C (p.Arg68Pro)	ALOXE3 (R200P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3288192	NM_021628.3(ALOXE3):c.181C>G (p.Leu61Val)	ALOXE3 (L193V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288182	NM_021628.3(ALOXE3):c.176C>A (p.Ala59Glu)	ALOXE3 (A191E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229844	NM_021628.3(ALOXE3):c.171C>G (p.Cys57Trp)	ALOXE3 (C189W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315191	NM_021628.3(ALOXE3):c.101C>T (p.Pro34Leu)	ALOXE3, LOC126862485 (P34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 54