"Institute of Human Genetics, University of Goettingen"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697248	NM_004722.4(AP4M1):c.142del (p.Val48fs)	AP4M1 (V48fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 1697250	NM_004722.4(AP4M1):c.498del (p.Ser167fs)	AP4M1 (S167fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GLikely pathogenic