"Baylor Genetics"[submitter] AND "AP4B1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032463	NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly)	AP4B1, AP4B1-AS1 (R525G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1032462	NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	AP4B1-AS1, AP4B1 (R514* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47	GPathogenic/Likely pathogenic
Select item 1028530	NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys)	AP4B1, AP4B1-AS1 (Y332C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1028529	NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly)	AP4B1, AP4B1-AS1 (A321G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1028532	NM_001253852.3(AP4B1):c.671G>A (p.Arg224His)	AP4B1, AP4B1-AS1 (R224H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1028531	NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp)	AP4B1 (R31W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance

ClinVar