AP2A2[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127495	NM_012305.4(AP2A2):c.88A>G (p.Ile30Val)	AP2A2 (I30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262466	NM_012305.4(AP2A2):c.88A>C (p.Ile30Leu)	AP2A2 (I30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360097	NM_012305.4(AP2A2):c.99A>G (p.Ile33Met)	AP2A2 (I33M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127489	NM_012305.4(AP2A2):c.127A>G (p.Lys43Glu)	AP2A2 (K43E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224586	NM_012305.4(AP2A2):c.175G>A (p.Val59Ile)	AP2A2 (V59I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550783	NM_012305.4(AP2A2):c.231G>A (p.Met77Ile)	AP2A2 (M77I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293730	NM_012305.4(AP2A2):c.347T>C (p.Ile116Thr)	AP2A2 (I116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403011	NM_012305.4(AP2A2):c.406G>A (p.Ala136Thr)	AP2A2 (A136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232207	NM_012305.4(AP2A2):c.406G>T (p.Ala136Ser)	AP2A2 (A136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332598	NM_012305.4(AP2A2):c.551C>T (p.Pro184Leu)	AP2A2 (P184L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260512	NM_012305.4(AP2A2):c.676G>A (p.Val226Met)	AP2A2 (V226M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294101	NM_012305.4(AP2A2):c.688G>A (p.Val230Ile)	AP2A2 (V230I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467694	NM_012305.4(AP2A2):c.890A>G (p.Lys297Arg)	AP2A2 (K297R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349646	NM_012305.4(AP2A2):c.949A>G (p.Ile317Val)	AP2A2 (I318V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641099	NM_012305.4(AP2A2):c.1199A>G (p.Asn400Ser)	AP2A2 (N400S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2622364	NM_012305.4(AP2A2):c.1351A>G (p.Ile451Val)	AP2A2 (I451V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300467	NM_012305.4(AP2A2):c.1462G>A (p.Ala488Thr)	AP2A2 (A488T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127490	NM_012305.4(AP2A2):c.1541C>T (p.Pro514Leu)	AP2A2 (P514L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336812	NM_012305.4(AP2A2):c.1553C>T (p.Pro518Leu)	AP2A2 (P519L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514333	NM_012305.4(AP2A2):c.1600G>A (p.Val534Ile)	AP2A2 (V534I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641100	NM_012305.4(AP2A2):c.1614G>A (p.Ala538=)	AP2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3300435	NM_012305.4(AP2A2):c.1693G>A (p.Asp565Asn)	AP2A2 (D566N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467762	NM_012305.4(AP2A2):c.1762G>A (p.Val588Met)	AP2A2 (V588M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127491	NM_012305.4(AP2A2):c.1803G>T (p.Met601Ile)	AP2A2 (M602I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127492	NM_012305.4(AP2A2):c.1808C>A (p.Pro603Gln)	AP2A2 (P604Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300461	NM_012305.4(AP2A2):c.1814C>T (p.Pro605Leu)	AP2A2 (P606L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461103	NM_012305.4(AP2A2):c.1891A>C (p.Lys631Gln)	AP2A2 (K631Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127493	NM_012305.4(AP2A2):c.1895G>A (p.Arg632Gln)	AP2A2 (R632Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300448	NM_012305.4(AP2A2):c.1973C>T (p.Ser658Leu)	AP2A2 (S658L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396269	NM_012305.4(AP2A2):c.2000C>A (p.Ala667Asp)	AP2A2 (A668D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279823	NM_012305.4(AP2A2):c.2027C>G (p.Pro676Arg)	AP2A2 (P677R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459287	NM_012305.4(AP2A2):c.2035G>A (p.Gly679Ser)	AP2A2 (G679S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284741	NM_012305.4(AP2A2):c.2093T>C (p.Leu698Pro)	AP2A2 (L698P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570146	NM_012305.4(AP2A2):c.2099C>T (p.Pro700Leu)	AP2A2 (P700L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321597	NM_012305.4(AP2A2):c.2245C>G (p.Gln749Glu)	AP2A2 (Q749E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300440	NM_012305.4(AP2A2):c.2327C>T (p.Pro776Leu)	AP2A2 (P777L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127494	NM_012305.4(AP2A2):c.2330C>T (p.Thr777Ile)	AP2A2 (T777I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544102	NM_012305.4(AP2A2):c.2339G>C (p.Gly780Ala)	AP2A2 (G780A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352049	NM_012305.4(AP2A2):c.2467C>G (p.Leu823Val)	AP2A2 (L823V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541277	NM_012305.4(AP2A2):c.2498C>T (p.Ala833Val)	AP2A2 (A833V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335515	NM_012305.4(AP2A2):c.2501C>G (p.Ser834Cys)	AP2A2 (S834C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454836	NM_012305.4(AP2A2):c.2528A>T (p.Gln843Leu)	AP2A2 (Q844L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302285	NM_012305.4(AP2A2):c.2558A>G (p.Asn853Ser)	AP2A2 (N853S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620900	NM_012305.4(AP2A2):c.2632C>A (p.Leu878Ile)	AP2A2 (L879I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283529	NM_012305.4(AP2A2):c.2687C>T (p.Thr896Met)	AP2A2 (T897M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518588	NM_012305.4(AP2A2):c.2702T>C (p.Ile901Thr)	AP2A2 (I902T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300455	NM_012305.4(AP2A2):c.2779G>A (p.Val927Ile)	AP2A2 (V927I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 47