"Ambry Genetics"[submitter] AND "ACSL5"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2311963	NM_203379.2(ACSL5):c.-30+2048C>T	ACSL5 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2538279	NM_203379.2(ACSL5):c.-30+2050C>G	ACSL5 (L4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140072	NM_203379.2(ACSL5):c.-30+2076C>A	ACSL5 (N12K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297839	NM_203379.2(ACSL5):c.-30+2100G>C	ACSL5 (R20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407314	NM_203379.2(ACSL5):c.-30+2105C>T	ACSL5 (S22L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140059	NM_203379.2(ACSL5):c.38C>T (p.Pro13Leu)	ACSL5 (P13L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310292	NM_203379.2(ACSL5):c.133A>G (p.Asn45Asp)	ACSL5 (N101D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496107	NM_203379.2(ACSL5):c.203G>C (p.Ser68Thr)	ACSL5 (S124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507514	NM_203379.2(ACSL5):c.295C>A (p.Pro99Thr)	ACSL5 (P155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310120	NM_203379.2(ACSL5):c.367T>G (p.Leu123Val)	ACSL5 (L123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254116	NM_203379.2(ACSL5):c.461C>T (p.Thr154Met)	ACSL5 (T154M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263120	NM_203379.2(ACSL5):c.466T>A (p.Ser156Thr)	ACSL5 (S212T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140097	NM_203379.2(ACSL5):c.506A>C (p.Glu169Ala)	ACSL5 (E225A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343054	NM_203379.2(ACSL5):c.541G>A (p.Ala181Thr)	ACSL5 (A181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246263	NM_203379.2(ACSL5):c.551T>C (p.Ile184Thr)	ACSL5 (I184T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140105	NM_203379.2(ACSL5):c.623T>A (p.Val208Glu)	ACSL5 (V208E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524677	NM_203379.2(ACSL5):c.753C>G (p.Ser251Arg)	ACSL5 (S251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140011	NM_203379.2(ACSL5):c.884C>T (p.Pro295Leu)	ACSL5 (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339460	NM_203379.2(ACSL5):c.889C>G (p.Pro297Ala)	ACSL5 (P353A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262935	NM_203379.2(ACSL5):c.1018A>T (p.Met340Leu)	ACSL5 (M340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262969	NM_203379.2(ACSL5):c.1115A>G (p.Lys372Arg)	ACSL5 (K372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469988	NM_203379.2(ACSL5):c.1153G>A (p.Glu385Lys)	ACSL5 (E385K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262958	NM_203379.2(ACSL5):c.1186T>G (p.Phe396Val)	ACSL5 (F396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610330	NM_203379.2(ACSL5):c.1235G>T (p.Arg412Met)	ACSL5 (R468M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140024	NM_203379.2(ACSL5):c.1246A>T (p.Ile416Phe)	ACSL5 (I472F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140028	NM_203379.2(ACSL5):c.1381A>G (p.Thr461Ala)	ACSL5 (T461A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262904	NM_203379.2(ACSL5):c.1382C>T (p.Thr461Ile)	ACSL5 (T517I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475885	NM_203379.2(ACSL5):c.1424A>G (p.Lys475Arg)	ACSL5 (K475R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551372	NM_203379.2(ACSL5):c.1451A>G (p.Tyr484Cys)	ACSL5 (Y484C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262914	NM_203379.2(ACSL5):c.1528A>G (p.Lys510Glu)	ACSL5 (K566E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233770	NM_203379.2(ACSL5):c.1613T>C (p.Ile538Thr)	ACSL5, ZDHHC6 (I538T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140043	NM_203379.2(ACSL5):c.1673T>C (p.Ile558Thr)	ACSL5, ZDHHC6 (I614T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262947	NM_203379.2(ACSL5):c.1678A>C (p.Asn560His)	ACSL5, ZDHHC6 (N616H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262924	NM_203379.2(ACSL5):c.1723G>A (p.Gly575Arg)	ZDHHC6, ACSL5 (G631R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396424	NM_203379.2(ACSL5):c.1729A>C (p.Ser577Arg)	ACSL5, ZDHHC6 (S577R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140049	NM_203379.2(ACSL5):c.1735C>T (p.Arg579Trp)	ACSL5, ZDHHC6 (R635W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336692	NM_203379.2(ACSL5):c.1784C>T (p.Ser595Leu)	ACSL5, ZDHHC6 (S595L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529585	NM_203379.2(ACSL5):c.1814C>T (p.Ser605Phe)	ACSL5, ZDHHC6 (S661F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140065	NM_203379.2(ACSL5):c.1972A>C (p.Thr658Pro)	ACSL5, ZDHHC6 (T658P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262898	NM_203379.2(ACSL5):c.2003A>G (p.Lys668Arg)	ACSL5, ZDHHC6 (K700R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 40