"Genome-Nilou Lab"[submitter] AND "AP4E1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1286033	NM_007347.5(AP4E1):c.346+50G>C	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 128401	NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)	AP4E1 (C163R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
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 678001	NM_007347.5(AP4E1):c.542+59G>A	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +1 more	GBenign
Select item 678150	NM_007347.5(AP4E1):c.1066+51T>C	AP4E1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 128392	NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)	AP4E1 (Y362C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 51 +5 more	GBenign/Likely benign
Select item 210198	NM_007347.5(AP4E1):c.1177-9T>C	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +5 more	GBenign/Likely benign
Select item 128393	NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)	AP4E1 (N428S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
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 1243701	NM_007347.5(AP4E1):c.1967-91A>G	AP4E1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 128395	NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)	AP4E1 (T810I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 128398	NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)	AP4E1 (M919V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 128399	NM_007347.5(AP4E1):c.2905-8A>G	AP4E1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 51 +4 more	GBenign
Select item 508250	NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)	AP4E1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 1245233	NM_007347.5(AP4E1):c.3096-57dup	AP4E1	Duplication (intron variant)	Hereditary spastic paraplegia 51 +2 more	GBenign
Select item 434237	NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)	AP4E1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 128400	NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)	AP4E1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 51 +3 more	GBenign

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Items: 22