C3279738[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627503	NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)	AP4B1, AP4B1-AS1 (S370fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 2584921	NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)	AP4B1, AP4B1-AS1 (C257fs +2 more)	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 434227	NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys)	AP4B1, AP4B1-AS1 (R228C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 520727	NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)	AP4B1-AS1, AP4B1 (R206Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2585554	NM_001253852.3(AP4B1):c.202G>A (p.Val68Ile)	AP4B1 (V68I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1878601	NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met)	AP4B1, DCLRE1B +1 more (L13M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance

ClinVar