GART[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2510280	NM_000819.5(GART):c.2957C>T (p.Ala986Val)	GART (A986V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098604	NM_000819.5(GART):c.2835T>G (p.Phe945Leu)	GART (F945L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312047	NM_000819.5(GART):c.2731A>T (p.Met911Leu)	GART (M911L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098603	NM_000819.5(GART):c.2665A>G (p.Ile889Val)	GART (I889V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507865	NM_000819.5(GART):c.2536G>A (p.Ala846Thr)	GART (A846T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621295	NM_000819.5(GART):c.2513A>G (p.Asp838Gly)	GART (D838G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265332	NM_000819.5(GART):c.2494A>G (p.Asn832Asp)	GART (N832D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271125	NM_000819.5(GART):c.2476G>C (p.Asp826His)	GART (D826H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098602	NM_000819.5(GART):c.2470C>T (p.Leu824Phe)	GART (L824F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322554	NM_000819.5(GART):c.2450C>T (p.Thr817Ile)	GART (T817I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570254	NM_000819.5(GART):c.2417A>G (p.Lys806Arg)	GART (K806R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308087	NM_000819.5(GART):c.2393C>T (p.Thr798Ile)	GART (T798I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098601	NM_000819.5(GART):c.2371G>A (p.Val791Met)	GART (V791M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588930	NM_000819.5(GART):c.2368T>C (p.Ser790Pro)	GART (S790P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280776	NM_000819.5(GART):c.2354T>G (p.Met785Arg)	GART (M785R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358944	NM_000819.5(GART):c.2345T>C (p.Ile782Thr)	GART (I782T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588937	NM_000819.5(GART):c.2323C>T (p.Arg775Cys)	GART (R775C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326417	NM_000819.5(GART):c.2012G>A (p.Arg671His)	GART (R671H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459385	NM_000819.5(GART):c.1963C>T (p.Leu655Phe)	GART (L655F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291241	NM_000819.5(GART):c.1915T>G (p.Ser639Ala)	GART (S639A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916559	NM_000819.5(GART):c.1907T>G (p.Leu636Arg)	GART (L636R)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 2487885	NM_000819.5(GART):c.1829T>A (p.Val610Asp)	GART (V610D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607370	NM_000819.5(GART):c.1739C>A (p.Pro580His)	GART (P580H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487530	NM_000819.5(GART):c.1729A>G (p.Met577Val)	GART (M577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348922	NM_000819.5(GART):c.1664T>C (p.Ile555Thr)	GART (I555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255686	NM_000819.5(GART):c.1649C>T (p.Ala550Val)	GART (A550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270800	NM_000819.5(GART):c.1520A>G (p.Asn507Ser)	GART (N507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511254	NM_000819.5(GART):c.1406A>T (p.Asp469Val)	GART (D469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245019	NM_000819.5(GART):c.1394G>A (p.Gly465Asp)	GART (G465D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491941	NM_000819.5(GART):c.1346T>C (p.Met449Thr)	GART (M449T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225867	NM_000819.5(GART):c.1346T>G (p.Met449Arg)	GART (M449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361912	NM_000819.5(GART):c.1331T>C (p.Ile444Thr)	GART (I444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595741	NM_000819.5(GART):c.1315G>A (p.Glu439Lys)	GART (E439K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220547	NM_000819.5(GART):c.1250A>T (p.Tyr417Phe)	GART (Y417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395046	NM_000819.5(GART):c.1180G>A (p.Glu394Lys)	GART (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366646	NM_000819.5(GART):c.1180G>C (p.Glu394Gln)	GART (E394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466004	NM_000819.5(GART):c.1178G>A (p.Arg393Gln)	GART (R393Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258913	NM_000819.5(GART):c.859C>G (p.Leu287Val)	GART (L287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291989	NM_000819.5(GART):c.692G>A (p.Gly231Glu)	GART (G231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318514	NM_000819.5(GART):c.469G>A (p.Gly157Arg)	GART (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377916	NM_000819.5(GART):c.373A>C (p.Lys125Gln)	GART (K125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098600	NM_000819.5(GART):c.133A>T (p.Ile45Phe)	GART (I45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 42