"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210217	NM_001128126.3(AP4S1):c.21G>A (p.Met7Ile)	AP4S1 (M7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434248	NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)	AP4S1 (K10R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 128406	NM_001128126.3(AP4S1):c.124C>A (p.Arg42=)	AP4S1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1336758	NM_001128126.3(AP4S1):c.210A>T (p.Gly70=)	AP4S1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 234924	NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	AP4S1 (R97*)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 210218	NM_001128126.3(AP4S1):c.295-3C>A	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 210219	NM_001128126.3(AP4S1):c.306+42G>A	AP4S1 (M116I)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 210220	NM_001128126.3(AP4S1):c.306+4182dup	AP4S1	Duplication (intron variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 128407	NM_001128126.3(AP4S1):c.306+4191A>G	AP4S1 (I125V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1336976	NM_001128126.3(AP4S1):c.306+4214C>A	AP4S1 (C108* +1 more)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 434249	NM_001128126.3(AP4S1):c.306+4283C>T	AP4S1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign