"Ambry Genetics"[submitter] AND "ALAS1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2216351	NM_000688.6(ALAS1):c.13G>A (p.Val5Ile)	ALAS1 (V22I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383551	NM_000688.6(ALAS1):c.133C>A (p.Pro45Thr)	ALAS1 (P45T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239696	NM_000688.6(ALAS1):c.308G>A (p.Gly103Asp)	ALAS1 (G103D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244355	NM_000688.6(ALAS1):c.356G>A (p.Gly119Asp)	ALAS1 (G119D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319170	NM_000688.6(ALAS1):c.380G>T (p.Ser127Ile)	ALAS1 (S127I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328004	NM_000688.6(ALAS1):c.571C>A (p.Pro191Thr)	ALAS1 (P191T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474781	NM_000688.6(ALAS1):c.637G>A (p.Asp213Asn)	ALAS1 (D213N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604299	NM_000688.6(ALAS1):c.688C>T (p.Pro230Ser)	ALAS1 (P230S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600968	NM_000688.6(ALAS1):c.691A>G (p.Met231Val)	ALAS1 (M231V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412351	NM_000688.6(ALAS1):c.781C>T (p.Arg261Trp)	ALAS1 (R261W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389707	NM_000688.6(ALAS1):c.784G>A (p.Val262Met)	ALAS1 (V262M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552590	NM_000688.6(ALAS1):c.835G>A (p.Gly279Ser)	ALAS1 (G279S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301154	NM_000688.6(ALAS1):c.1028T>C (p.Ile343Thr)	ALAS1 (I343T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323234	NM_000688.6(ALAS1):c.1058A>T (p.Lys353Met)	ALAS1 (K353M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361727	NM_000688.6(ALAS1):c.1160T>C (p.Met387Thr)	ALAS1 (M387T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386203	NM_000688.6(ALAS1):c.1435C>G (p.Pro479Ala)	ALAS1 (P496A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374481	NM_000688.6(ALAS1):c.1492C>T (p.Arg498Trp)	ALAS1 (R515W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595194	NM_000688.6(ALAS1):c.1516C>T (p.Arg506Cys)	ALAS1 (R523C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290968	NM_000688.6(ALAS1):c.1544T>C (p.Leu515Pro)	ALAS1 (L532P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332130	NM_000688.6(ALAS1):c.1573T>G (p.Cys525Gly)	ALAS1 (C542G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345872	NM_000688.6(ALAS1):c.1598G>A (p.Arg533Gln)	ALAS1 (R533Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344858	NM_000688.6(ALAS1):c.1727C>T (p.Pro576Leu)	ALAS1 (P576L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531509	NM_000688.6(ALAS1):c.1730A>G (p.His577Arg)	ALAS1 (H594R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519250	NM_000688.6(ALAS1):c.1889C>T (p.Ser630Leu)	ALAS1 (S647L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24