ClinVar for Gene (Select 23431) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	GUncertain significance
Select item 3243743	NC_000015.9:g.(?_50999997)_(51260594_?)dup	AP4E1, SPPL2A	Duplication	Spastic paraplegia	GUncertain significance
Select item 3127554	NM_007347.5(AP4E1):c.865C>G (p.Gln289Glu)	AP4E1 (Q214E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127552	NM_007347.5(AP4E1):c.3242T>C (p.Ile1081Thr)	AP4E1 (I1081T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127550	NM_007347.5(AP4E1):c.1648A>G (p.Thr550Ala)	AP4E1 (T475A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067410	NM_007347.5(AP4E1):c.2346+8A>C	AP4E1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3067395	NM_007347.5(AP4E1):c.1738A>G (p.Ile580Val)	AP4E1 (I505V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043324	NM_007347.5(AP4E1):c.2091-9C>T	AP4E1	Single nucleotide variant (intron variant)	AP4E1-related disorder	GLikely benign
Select item 3029495	NM_007347.5(AP4E1):c.3254-7_3254-3del	AP4E1	Microsatellite (intron variant)	AP4E1-related disorder	GLikely benign
Select item 3022052	NM_007347.5(AP4E1):c.30G>A (p.Thr10=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 3020101	NM_007347.5(AP4E1):c.1851+7C>A	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3017915	NM_007347.5(AP4E1):c.2347-10A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3014046	NM_007347.5(AP4E1):c.1269G>A (p.Glu423=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3006892	NM_007347.5(AP4E1):c.2905-13C>T	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3003031	NM_007347.5(AP4E1):c.2327C>G (p.Ser776Ter)	AP4E1 (S776* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2977214	NM_007347.5(AP4E1):c.943+13T>C	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2965193	NM_007347.5(AP4E1):c.3159A>G (p.Lys1053=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2920696	NM_007347.5(AP4E1):c.150+593C>G	AP4E1	Single nucleotide variant (intron variant)	Developmental disorder	GLikely pathogenic
Select item 2918300	NM_007347.5(AP4E1):c.1335A>G (p.Ala445=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2917392	NM_007347.5(AP4E1):c.2698A>G (p.Ser900Gly)	AP4E1 (S900G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2916759	NM_007347.5(AP4E1):c.2358A>G (p.Ala786=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2916495	NM_007347.5(AP4E1):c.1177-13C>T	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2885493	NM_007347.5(AP4E1):c.1430-20G>A	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2876354	NM_007347.5(AP4E1):c.703-4del	AP4E1	Deletion (intron variant)	Spastic paraplegia	GLikely benign
Select item 2857791	NM_007347.5(AP4E1):c.86A>C (p.Lys29Thr)	AP4E1 (K29T)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2817162	NM_007347.5(AP4E1):c.3253+19del	AP4E1	Deletion (intron variant)	Spastic paraplegia	GBenign
Select item 2816859	NM_007347.5(AP4E1):c.420+1G>T	AP4E1	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 2814154	NM_007347.5(AP4E1):c.3096-15A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2778635	NM_007347.5(AP4E1):c.2905-16T>C	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2761609	NM_007347.5(AP4E1):c.2574C>G (p.Leu858=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2741192	NM_007347.5(AP4E1):c.1914G>A (p.Ala638=)	AP4E1	Single nucleotide variant (synonymous variant)	AP4E1-related disorder +1 more	GLikely benign
Select item 2739886	NM_007347.5(AP4E1):c.1429+17A>T	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2739884	NM_007347.5(AP4E1):c.1429+10C>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2738481	NM_007347.5(AP4E1):c.1317-13A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2728367	NM_007347.5(AP4E1):c.1624A>T (p.Met542Leu)	AP4E1 (M467L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2722101	NM_007347.5(AP4E1):c.1108C>T (p.Leu370=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2708227	NM_007347.5(AP4E1):c.2470G>A (p.Val824Met)	AP4E1 (V749M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2704012	NM_007347.5(AP4E1):c.2010C>G (p.Gly670=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2698521	NM_007347.5(AP4E1):c.2653A>G (p.Ile885Val)	AP4E1 (I885V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2685516	GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1	AP4E1, GABPB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684758	GRCh37/hg19 15q21.2(chr15:50749119-51455096)x3	AP4E1, SPPL2A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684757	GRCh37/hg19 15q21.2(chr15:50595262-51210478)x3	AP4E1, GABPB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645338	NM_007347.5(AP4E1):c.3197C>T (p.Pro1066Leu)	AP4E1 (P1066L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645337	NM_007347.5(AP4E1):c.2848A>T (p.Ser950Cys)	AP4E1 (S875C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645336	NM_007347.5(AP4E1):c.1937G>A (p.Arg646His)	AP4E1 (R571H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621109	NM_007347.5(AP4E1):c.2781A>G (p.Ile927Met)	AP4E1 (I852M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610052	NM_007347.5(AP4E1):c.2045T>C (p.Leu682Pro)	AP4E1 (L682P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582934	NM_007347.5(AP4E1):c.1790A>C (p.His597Pro)	AP4E1 (H522P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2582319	NM_007347.5(AP4E1):c.773A>G (p.Lys258Arg)	AP4E1 (K183R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51	GUncertain significance
Select item 2579247	GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0	AP4E1	Copy number loss	Hereditary spastic paraplegia 51	GPathogenic
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	AP4E1, ATP8B4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2578739	NM_007347.5(AP4E1):c.1469A>G (p.Tyr490Cys)	AP4E1 (Y415C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2556051	NM_007347.5(AP4E1):c.1985A>G (p.Tyr662Cys)	AP4E1 (Y587C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552473	NM_007347.5(AP4E1):c.726C>A (p.Asp242Glu)	AP4E1 (D167E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538280	NM_007347.5(AP4E1):c.1591G>A (p.Glu531Lys)	AP4E1 (E456K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513434	NM_007347.5(AP4E1):c.1693G>A (p.Ala565Thr)	AP4E1 (A490T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500948	NM_007347.5(AP4E1):c.1429+1G>T	AP4E1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 51	GUncertain significance
Select item 2466518	NM_007347.5(AP4E1):c.754A>G (p.Lys252Glu)	AP4E1 (K177E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439138	NM_007347.5(AP4E1):c.3095+4A>C	AP4E1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439137	NM_007347.5(AP4E1):c.275A>G (p.Tyr92Cys)	AP4E1 (Y17C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430582	NM_007347.5(AP4E1):c.2783C>T (p.Ser928Leu)	AP4E1 (S853L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425753	NC_000015.9:g.(?_51200976)_(51226914_?)dup	AP4E1	Duplication	Spastic paraplegia	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2420024	NM_007347.5(AP4E1):c.2654T>A (p.Ile885Asn)	AP4E1 (I810N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2418555	NM_007347.5(AP4E1):c.490G>A (p.Glu164Lys)	AP4E1 (E164K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2416294	NM_007347.5(AP4E1):c.222+11A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2410671	NM_007347.5(AP4E1):c.415G>A (p.Val139Ile)	AP4E1 (V64I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2340863	NM_007347.5(AP4E1):c.1790A>G (p.His597Arg)	AP4E1 (H522R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340861	NM_007347.5(AP4E1):c.1731A>T (p.Glu577Asp)	AP4E1 (E502D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330412	NM_007347.5(AP4E1):c.3214C>G (p.Leu1072Val)	AP4E1 (L1072V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319913	NM_007347.5(AP4E1):c.1672G>C (p.Val558Leu)	AP4E1 (V483L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315911	NM_007347.5(AP4E1):c.2108T>C (p.Leu703Pro)	AP4E1 (L628P +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2301675	NM_007347.5(AP4E1):c.1168A>G (p.Lys390Glu)	AP4E1 (K390E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298373	NM_007347.5(AP4E1):c.361T>A (p.Ser121Thr)	AP4E1 (S121T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251423	NM_007347.5(AP4E1):c.779C>T (p.Pro260Leu)	AP4E1 (P260L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247320	NM_007347.5(AP4E1):c.65G>A (p.Gly22Asp)	AP4E1 (G22D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245483	NM_007347.5(AP4E1):c.328C>G (p.Leu110Val)	AP4E1 (L35V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237793	NM_007347.5(AP4E1):c.505G>A (p.Val169Ile)	AP4E1 (V169I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234318	NM_007347.5(AP4E1):c.374A>G (p.His125Arg)	AP4E1 (H125R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205740	NM_007347.5(AP4E1):c.872C>T (p.Thr291Ile)	AP4E1 (T216I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202446	NM_007347.5(AP4E1):c.1966+11A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2201424	NM_007347.5(AP4E1):c.953T>C (p.Phe318Ser)	AP4E1 (F243S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2200417	NM_007347.5(AP4E1):c.1317-15T>C	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2199362	NM_007347.5(AP4E1):c.2090+19A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2199003	NM_007347.5(AP4E1):c.93C>T (p.Ser31=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2198291	NM_007347.5(AP4E1):c.1851+19A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2198141	NM_007347.5(AP4E1):c.762A>C (p.Val254=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2196601	NM_007347.5(AP4E1):c.976T>A (p.Ser326Thr)	AP4E1 (S326T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2194141	NM_007347.5(AP4E1):c.702+5G>A	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2181058	NM_007347.5(AP4E1):c.3210G>C (p.Lys1070Asn)	AP4E1 (K995N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2179448	NM_007347.5(AP4E1):c.2606A>G (p.Tyr869Cys)	AP4E1 (Y869C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2178455	NM_007347.5(AP4E1):c.250C>A (p.Leu84Ile)	AP4E1 (L84I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2177724	NM_007347.5(AP4E1):c.2810A>G (p.Asp937Gly)	AP4E1 (D862G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2173768	NM_007347.5(AP4E1):c.2561A>T (p.Asp854Val)	AP4E1 (D779V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2172577	NM_007347.5(AP4E1):c.1176+9G>A	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2171900	NM_007347.5(AP4E1):c.547A>T (p.Ile183Phe)	AP4E1 (I108F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2170190	NM_007347.5(AP4E1):c.782T>G (p.Val261Gly)	AP4E1 (V261G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance

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