"Ambry Genetics"[submitter] AND "ALOX12"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2287353	NM_000697.3(ALOX12):c.275T>C (p.Val92Ala)	ALOX12, ALOX12-AS1 (V92A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230942	NM_000697.3(ALOX12):c.340C>T (p.Arg114Cys)	ALOX12-AS1, ALOX12 (R114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537580	NM_000697.3(ALOX12):c.395T>G (p.Leu132Arg)	ALOX12, ALOX12-AS1 (L132R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467649	NM_000697.3(ALOX12):c.404G>A (p.Arg135Lys)	ALOX12, ALOX12-AS1 (R135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381381	NM_000697.3(ALOX12):c.728G>A (p.Arg243His)	ALOX12-AS1, ALOX12 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479149	NM_000697.3(ALOX12):c.797A>G (p.Lys266Arg)	ALOX12, ALOX12-AS1 (K266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2261370	NM_000697.3(ALOX12):c.966C>A (p.Asn322Lys)	ALOX12-AS1, ALOX12 (N322K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394557	NM_000697.3(ALOX12):c.1010C>G (p.Pro337Arg)	ALOX12, ALOX12-AS1 (P337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514441	NM_000697.3(ALOX12):c.1091C>T (p.Thr364Ile)	ALOX12, ALOX12-AS1 (T364I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322966	NM_000697.3(ALOX12):c.1093C>G (p.His365Asp)	ALOX12, ALOX12-AS1 (H365D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592950	NM_000697.3(ALOX12):c.1208C>T (p.Ala403Val)	ALOX12, ALOX12-AS1 (A403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566684	NM_000697.3(ALOX12):c.1504A>T (p.Ile502Phe)	ALOX12, ALOX12-AS1 (I502F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392090	NM_000697.3(ALOX12):c.1604C>T (p.Thr535Met)	ALOX12-AS1, ALOX12 (T535M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598722	NM_000697.3(ALOX12):c.1619A>G (p.His540Arg)	ALOX12-AS1, ALOX12 (H540R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534154	NM_000697.3(ALOX12):c.1796G>A (p.Arg599His)	ALOX12, ALOX12-AS1 (R599H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398481	NM_000697.3(ALOX12):c.1988T>C (p.Ile663Thr)	ALOX12-AS1, ALOX12 (I663T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance