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

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2273720	NM_024590.4(ARSJ):c.1796G>T (p.Gly599Val)	ARSJ (G599V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619797	NM_024590.4(ARSJ):c.1781C>T (p.Ser594Leu)	ARSJ (S594L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227419	NM_024590.4(ARSJ):c.1772C>G (p.Thr591Ser)	ARSJ (T591S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291932	NM_024590.4(ARSJ):c.1759G>C (p.Val587Leu)	ARSJ (V471L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129928	NM_024590.4(ARSJ):c.1607C>A (p.Pro536His)	ARSJ (P536H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352309	NM_024590.4(ARSJ):c.1532G>A (p.Arg511Lys)	ARSJ (R395K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129927	NM_024590.4(ARSJ):c.1531A>T (p.Arg511Trp)	ARSJ (R395W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337990	NM_024590.4(ARSJ):c.1465A>G (p.Thr489Ala)	ARSJ (T373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129926	NM_024590.4(ARSJ):c.1358A>G (p.His453Arg)	ARSJ (H337R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129925	NM_024590.4(ARSJ):c.1309G>C (p.Gly437Arg)	ARSJ (G321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359213	NM_024590.4(ARSJ):c.1219A>G (p.Ile407Val)	ARSJ (I291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262467	NM_024590.4(ARSJ):c.1154T>C (p.Ile385Thr)	ARSJ (I385T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129924	NM_024590.4(ARSJ):c.1004G>A (p.Gly335Glu)	ARSJ (G219E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392694	NM_024590.4(ARSJ):c.998C>T (p.Thr333Met)	ARSJ (T217M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291229	NM_024590.4(ARSJ):c.980A>G (p.Asp327Gly)	ARSJ (D327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558512	NM_024590.4(ARSJ):c.974C>T (p.Ser325Phe)	ARSJ (S209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322929	NM_024590.4(ARSJ):c.883G>T (p.Ala295Ser)	ARSJ (A179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398918	NM_024590.4(ARSJ):c.853A>G (p.Ile285Val)	ARSJ (I169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129934	NM_024590.4(ARSJ):c.848G>T (p.Arg283Leu)	ARSJ (R167L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129933	NM_024590.4(ARSJ):c.838G>C (p.Glu280Gln)	ARSJ (E164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129932	NM_024590.4(ARSJ):c.838G>A (p.Glu280Lys)	ARSJ (E164K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129931	NM_024590.4(ARSJ):c.767C>T (p.Thr256Ile)	ARSJ (T256I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471544	NM_024590.4(ARSJ):c.736G>A (p.Val246Ile)	ARSJ (V130I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129930	NM_024590.4(ARSJ):c.725A>G (p.Tyr242Cys)	ARSJ (Y126C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208743	NM_024590.4(ARSJ):c.598C>T (p.Leu200Phe)	ARSJ (L200F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316625	NM_024590.4(ARSJ):c.536T>G (p.Leu179Trp)	ARSJ (L179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391983	NM_024590.4(ARSJ):c.520G>A (p.Val174Ile)	ARSJ (V174I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129929	NM_024590.4(ARSJ):c.331G>A (p.Val111Ile)	ARSJ (V111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257092	NM_024590.4(ARSJ):c.286T>G (p.Ser96Ala)	ARSJ (S96A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352622	NM_024590.4(ARSJ):c.232C>G (p.Leu78Val)	ARSJ (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565328	NM_024590.4(ARSJ):c.23G>A (p.Gly8Glu)	ARSJ (G8E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481536	NM_024590.4(ARSJ):c.23G>C (p.Gly8Ala)	ARSJ (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233573	NM_024590.4(ARSJ):c.20C>A (p.Ala7Glu)	ARSJ (A7E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33