"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 997966	GRCh37/hg19 14q12(chr14:27450705-31529481)x3	AP4S1, COCH +5 more	Copy number gain	Epilepsy +1 more	GPathogenic

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