ClinVar for MedGen (Select 462406) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2500948	NM_007347.5(AP4E1):c.1429+1G>T	AP4E1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 51	GUncertain significance
Select item 1709784	NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)	AP4E1 (E445fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 51	GLikely pathogenic
Select item 1696296	NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)	AP4E1 (W860* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 51	GLikely pathogenic
Select item 1383328	NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)	AP4E1 (H53Y +1 more)	Single nucleotide variant (missense variant)	Stuttering, familial persistent, 1 +2 more	GUncertain significance
Select item 1344794	NM_007347.5(AP4E1):c.542+5_542+8del	AP4E1	Microsatellite (splice donor variant)	Hereditary spastic paraplegia 51 +1 more	GPathogenic/Likely pathogenic
Select item 1286033	NM_007347.5(AP4E1):c.346+50G>C	AP4E1	Single nucleotide variant (intron variant)	Stuttering, familial persistent, 1 +2 more	GBenign
Select item 1278582	NM_007347.5(AP4E1):c.1316+44_1316+54del	AP4E1	Deletion (intron variant)	Hereditary spastic paraplegia 51 +2 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 1245233	NM_007347.5(AP4E1):c.3096-57dup	AP4E1	Duplication (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 1243701	NM_007347.5(AP4E1):c.1967-91A>G	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 1064645	NM_007347.5(AP4E1):c.942_943+3delinsCC	AP4E1	Indel (splice donor variant)	Hereditary spastic paraplegia 51	GPathogenic
Select item 1031734	NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)	AP4E1 (R1030* +1 more)	Single nucleotide variant (nonsense)	ALG12-congenital disorder of glycosylation	GPathogenic
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 946834	NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln)	AP4E1 (K106Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51 +1 more	GUncertain significance
Select item 695562	NM_007347.5(AP4E1):c.171G>A (p.Gln57=)	AP4E1	Single nucleotide variant (5 prime UTR variant +1 more)	AP4E1-related disorder +5 more	GBenign/Likely benign
Select item 680002	NM_007347.5(AP4E1):c.542+11T>G	AP4E1	Single nucleotide variant (intron variant)	Stuttering, familial persistent, 1 +3 more	GBenign/Likely benign
Select item 678150	NM_007347.5(AP4E1):c.1066+51T>C	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 678001	NM_007347.5(AP4E1):c.542+59G>A	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +1 more	GBenign
Select item 677999	NM_007347.5(AP4E1):c.150+33A>G	AP4E1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 635026	NM_007347.5(AP4E1):c.1317-2A>C	AP4E1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 51	GLikely pathogenic
Select item 508353	NM_007347.5(AP4E1):c.2346+10C>T	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 508250	NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)	AP4E1	Single nucleotide variant (synonymous variant)	Stuttering, familial persistent, 1 +3 more	GBenign/Likely benign
Select item 458249	NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)	AP4E1 (P717S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51 +2 more	GUncertain significance
Select item 434237	NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)	AP4E1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 434233	NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro)	AP4E1 (T559P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51 +2 more	GUncertain significance
Select item 380768	NM_007347.5(AP4E1):c.222+18G>A	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 240837	NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)	AP4E1 (V618I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 210198	NM_007347.5(AP4E1):c.1177-9T>C	AP4E1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 128402	NM_007347.5(AP4E1):c.613C>A (p.His205Asn)	AP4E1 (H205N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GUncertain significance
Select item 128401	NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)	AP4E1 (C163R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 128400	NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign
Select item 128399	NM_007347.5(AP4E1):c.2905-8A>G	AP4E1	Single nucleotide variant (intron variant)	Spastic paraplegia +4 more	GBenign
Select item 128398	NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)	AP4E1 (M919V +1 more)	Single nucleotide variant (missense variant)	AP4E1-related disorder +6 more	GBenign/Likely benign
Select item 128395	NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)	AP4E1 (T810I +1 more)	Single nucleotide variant (missense variant)	AP4E1-related disorder +4 more	GBenign
Select item 128393	NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)	AP4E1 (N428S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 128392	NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)	AP4E1 (Y362C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 30661	NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)	AP4E1 (V379fs +1 more)	Insertion (frameshift variant)	Hereditary spastic paraplegia 51	GPathogenic
Select item 30659	NC_000015.10:g.50755991_50948682del	AP4E1, LOC125078079 +5 more	Deletion	Hereditary spastic paraplegia 51	GPathogenic

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Items: 40