"Ambry Genetics"[submitter] AND "ALAS2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607684	NM_000032.5(ALAS2):c.1696C>T (p.Leu566Phe)	ALAS2 (L566F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2719843	NM_000032.5(ALAS2):c.1435C>T (p.Arg479Trp)	ALAS2 (R442W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295347	NM_000032.5(ALAS2):c.1372C>T (p.Arg458Cys)	ALAS2 (R445C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289564	NM_000032.5(ALAS2):c.1124G>A (p.Arg375His)	ALAS2 (R375H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463262	NM_000032.5(ALAS2):c.922G>A (p.Asp308Asn)	ALAS2 (D295N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3108464	NM_000032.5(ALAS2):c.920C>T (p.Pro307Leu)	ALAS2 (P270L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400538	NM_000032.5(ALAS2):c.886G>A (p.Gly296Arg)	ALAS2 (G283R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1503397	NM_000032.5(ALAS2):c.829G>A (p.Glu277Lys)	ALAS2 (E277K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2609239	NM_000032.5(ALAS2):c.815T>A (p.Ile272Asn)	ALAS2 (I272N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308554	NM_000032.5(ALAS2):c.713A>T (p.Glu238Val)	ALAS2 (E201V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2256239	NM_000032.5(ALAS2):c.557T>C (p.Val186Ala)	ALAS2 (V149A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108450	NM_000032.5(ALAS2):c.367G>A (p.Glu123Lys)	ALAS2, LOC108663984 (E123K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 392108	NM_000032.5(ALAS2):c.278A>G (p.Gln93Arg)	ALAS2, LOC108663984 (Q93R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1907350	NM_000032.5(ALAS2):c.239G>A (p.Gly80Glu)	ALAS2, LOC108663984 (G104E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 796854	NM_000032.5(ALAS2):c.197C>T (p.Ala66Val)	ALAS2, LOC108663984 (A90V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 214093	NM_000032.5(ALAS2):c.190T>C (p.Ser64Pro)	ALAS2, LOC108663984 (S64P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3283244	NM_000032.5(ALAS2):c.26A>C (p.Gln9Pro)	ALAS2, LOC108663984 (Q9P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108452	NM_000032.5(ALAS2):c.4G>T (p.Val2Leu)	ALAS2, LOC108663984 (V2L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance