"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521909	NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)	AP4S1 (L6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 577104	NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)	AP4S1 (R15*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 1344800	NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)	AP4S1 (S17fs)	Duplication (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 30658	NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)	AP4S1 (R42*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1344801	NM_001128126.3(AP4S1):c.139-2A>G	AP4S1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 521910	NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter)	AP4S1 (E77*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1344802	NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs)	AP4S1 (I80fs)	Insertion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 234924	NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	AP4S1 (R97*)	Single nucleotide variant (nonsense)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 279680	NM_001128126.3(AP4S1):c.294+1G>T	AP4S1	Single nucleotide variant (splice donor variant)	Spastic paraplegia +1 more	GPathogenic
Select item 210218	NM_001128126.3(AP4S1):c.295-3C>A	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic