AP4E1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 30659	NC_000015.10:g.50755991_50948682del	AP4E1, LOC125078079 +5 more	Deletion	Hereditary spastic paraplegia 51	GPathogenic
Select item 57107	GRCh38/hg38 15q21.2(chr15:50756382-50978175)x1	AP4E1, LOC125078079 +5 more	Copy number loss	See cases	GUncertain significance
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 677997	NM_007347.4(AP4E1):c.-222C>T	AP4E1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 677998	NM_007347.4(AP4E1):c.-137A>C	AP4E1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 388440	NM_007347.5(AP4E1):c.-47C>A	AP4E1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509373	NM_007347.5(AP4E1):c.-40G>A	AP4E1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 506560	NM_007347.5(AP4E1):c.-37ATCGCGGGCGGCGGCGGC[3]	AP4E1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 373640	NM_007347.5(AP4E1):c.-3G>T	AP4E1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1722424	NM_007347.5(AP4E1):c.2T>C (p.Met1Thr)	AP4E1 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1937057	NM_007347.5(AP4E1):c.25C>G (p.Leu9Val)	AP4E1 (L9V)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2141676	NM_007347.5(AP4E1):c.29C>T (p.Thr10Met)	AP4E1 (T10M)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
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 1159935	NM_007347.5(AP4E1):c.30G>T (p.Thr10=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2140393	NM_007347.5(AP4E1):c.33G>A (p.Ala11=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 434230	NM_007347.5(AP4E1):c.42A>G (p.Gly14=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia +1 more	GLikely benign
Select item 1505645	NM_007347.5(AP4E1):c.46T>C (p.Phe16Leu)	AP4E1 (F16L)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	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 2084116	NM_007347.5(AP4E1):c.67G>A (p.Gly23Ser)	AP4E1 (G23S)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1000682	NM_007347.5(AP4E1):c.67G>C (p.Gly23Arg)	AP4E1 (G23R)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1516535	NM_007347.5(AP4E1):c.68G>T (p.Gly23Val)	AP4E1 (G23V)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
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 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 1343964	NM_007347.5(AP4E1):c.104G>A (p.Arg35Lys)	AP4E1 (R35K)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1163384	NM_007347.5(AP4E1):c.110G>T (p.Gly37Val)	AP4E1 (G37V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2002014	NM_007347.5(AP4E1):c.121C>A (p.Arg41Ser)	AP4E1 (R41S)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1111397	NM_007347.5(AP4E1):c.132A>T (p.Thr44=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 392434	NM_007347.5(AP4E1):c.133G>A (p.Ala45Thr)	AP4E1 (A45T)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2068623	NM_007347.5(AP4E1):c.136C>G (p.Leu46Val)	AP4E1 (L46V)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1596614	NM_007347.5(AP4E1):c.138C>T (p.Leu46=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2064014	NM_007347.5(AP4E1):c.148C>A (p.His50Asn)	AP4E1 (H50N)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1343985	NM_007347.5(AP4E1):c.150C>T (p.His50=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2029846	NM_007347.5(AP4E1):c.150+15G>A	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 677999	NM_007347.5(AP4E1):c.150+33A>G	AP4E1	Single nucleotide variant (intron variant)	Stuttering, familial persistent, 1 +2 more	GBenign
Select item 678149	NM_007347.5(AP4E1):c.150+156A>G	AP4E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292889	NM_007347.5(AP4E1):c.150+232G>T	AP4E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920696	NM_007347.5(AP4E1):c.150+593C>G	AP4E1	Single nucleotide variant (intron variant)	Developmental disorder	GLikely pathogenic
Select item 678000	NM_007347.5(AP4E1):c.151-142C>T	AP4E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1544163	NM_007347.5(AP4E1):c.151-11C>T	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1976330	NM_007347.5(AP4E1):c.151-10A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1643951	NM_007347.5(AP4E1):c.151-4T>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2057001	NM_007347.5(AP4E1):c.165A>G (p.Leu55=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 695562	NM_007347.5(AP4E1):c.171G>A (p.Gln57=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 51 +4 more	GBenign/Likely benign
Select item 1661381	NM_007347.5(AP4E1):c.174G>A (p.Gln58=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1420402	NM_007347.5(AP4E1):c.194C>T (p.Ala65Val)	AP4E1 (A65V)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1462912	NM_007347.5(AP4E1):c.195G>T (p.Ala65=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 434231	NM_007347.5(AP4E1):c.197C>T (p.Thr66Ile)	AP4E1 (T66I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1389255	NM_007347.5(AP4E1):c.203C>T (p.Ser68Phe)	AP4E1 (S68F)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 638418	NM_007347.5(AP4E1):c.206C>T (p.Ala69Val)	AP4E1 (A69V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1501024	NM_007347.5(AP4E1):c.211A>G (p.Thr71Ala)	AP4E1 (T71A)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1343998	NM_007347.5(AP4E1):c.212C>T (p.Thr71Ile)	AP4E1 (T71I)	Single nucleotide variant (5 prime UTR variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2043164	NM_007347.5(AP4E1):c.222+3A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 210201	NM_007347.5(AP4E1):c.222+9G>A	AP4E1	Single nucleotide variant (intron variant)	not specified	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 1898911	NM_007347.5(AP4E1):c.222+17dup	AP4E1	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 380768	NM_007347.5(AP4E1):c.222+18G>A	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +3 more	GBenign
Select item 1277493	NM_007347.5(AP4E1):c.222+48_222+49insT	AP4E1	Insertion (intron variant)	Stuttering, familial persistent, 1 +2 more	GBenign
Select item 1693410	NM_007347.5(AP4E1):c.222+154C>T	AP4E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 527994	NM_007347.5(AP4E1):c.223A>C (p.Lys75Gln)	AP4E1 (K75Q)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2090105	NM_007347.5(AP4E1):c.250C>T (p.Leu84Phe)	AP4E1 (L84F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 655592	NM_007347.5(AP4E1):c.254T>C (p.Ile85Thr)	AP4E1 (I10T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 128397	NM_007347.5(AP4E1):c.257A>G (p.Tyr86Cys)	AP4E1 (Y86C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210202	NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)	AP4E1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1471999	NM_007347.5(AP4E1):c.277G>C (p.Asp93His)	AP4E1 (D18H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 643004	NM_007347.5(AP4E1):c.284C>T (p.Ser95Phe)	AP4E1 (S20F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 416334	NM_007347.5(AP4E1):c.291C>T (p.Gly97=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1434086	NM_007347.5(AP4E1):c.293A>G (p.Tyr98Cys)	AP4E1 (Y23C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1029158	NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser)	AP4E1 (N109S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51	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 807255	NM_007347.5(AP4E1):c.343G>A (p.Val115Ile)	AP4E1 (V115I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286033	NM_007347.5(AP4E1):c.346+50G>C	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 1250070	NM_007347.5(AP4E1):c.346+215G>A	AP4E1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199057	NM_007347.5(AP4E1):c.346+229G>A	AP4E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579247	GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0	AP4E1	Copy number loss	Hereditary spastic paraplegia 51	GPathogenic
Select item 2038047	NM_007347.5(AP4E1):c.355G>T (p.Ala119Ser)	AP4E1 (A44S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 1383328	NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)	AP4E1 (H53Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 2090975	NM_007347.5(AP4E1):c.384T>G (p.His128Gln)	AP4E1 (H53Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 528013	NM_007347.5(AP4E1):c.390A>G (p.Leu130=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2167036	NM_007347.5(AP4E1):c.391T>C (p.Leu131=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1946545	NM_007347.5(AP4E1):c.399C>T (p.Leu133=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 700280	NM_007347.5(AP4E1):c.399C>G (p.Leu133=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	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 2816859	NM_007347.5(AP4E1):c.420+1G>T	AP4E1	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 1139273	NM_007347.5(AP4E1):c.420+10_420+14del	AP4E1	Microsatellite (splice donor variant)	Spastic paraplegia	GLikely benign
Select item 1304905	NM_007347.5(AP4E1):c.420+3_420+9del	AP4E1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 700712	NM_007347.5(AP4E1):c.420+8A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1099968	NM_007347.5(AP4E1):c.420+9T>C	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2119521	NM_007347.5(AP4E1):c.420+11G>C	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1219987	NM_007347.5(AP4E1):c.421-282T>G	AP4E1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225255	NM_007347.5(AP4E1):c.421-195_421-192del	AP4E1	Deletion (intron variant)	not provided	GBenign
Select item 1657099	NM_007347.5(AP4E1):c.421-20T>C	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 1982136	NM_007347.5(AP4E1):c.429G>C (p.Gln143His)	AP4E1 (Q143H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1344032	NM_007347.5(AP4E1):c.441A>G (p.Leu147=)	AP4E1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1483404	NM_007347.5(AP4E1):c.442G>A (p.Val148Ile)	AP4E1 (V73I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1547029	NM_007347.5(AP4E1):c.450G>T (p.Val150=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign

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