"Ambry Genetics"[submitter] AND "ACSL6"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2556914	NM_001009185.3(ACSL6):c.1968G>C (p.Lys656Asn)	ACSL6 (K596N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407932	NM_001009185.3(ACSL6):c.1393C>T (p.Pro465Ser)	ACSL6 (P405S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210045	NM_001009185.3(ACSL6):c.1280G>A (p.Arg427Gln)	ACSL6 (R402Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598434	NM_001009185.3(ACSL6):c.1094G>A (p.Arg365His)	ACSL6 (R363H +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226852	NM_001009185.3(ACSL6):c.952G>A (p.Val318Met)	ACSL6 (V293M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219070	NM_001009185.3(ACSL6):c.826G>A (p.Val276Met)	ACSL6 (V241M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390537	NM_001009185.3(ACSL6):c.365G>A (p.Arg122His)	ACSL6 (R122H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334966	NM_001009185.3(ACSL6):c.233C>T (p.Pro78Leu)	ACSL6 (P64L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544518	NM_001009185.3(ACSL6):c.142C>T (p.Arg48Cys)	ACSL6 (R48C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance