"PreventionGenetics, part of Exact Sciences"[submitter] AND "AP4B1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034322	NM_001253852.3(AP4B1):c.1683C>T (p.Asn561=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	AP4B1-related disorder	GLikely benign
Select item 623700	NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	AP4B1, AP4B1-AS1 (Y519* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3058417	NM_001253852.3(AP4B1):c.1134C>A (p.Tyr378Ter)	AP4B1, AP4B1-AS1 (Y210* +2 more)	Single nucleotide variant (nonsense)	AP4B1-related disorder	GLikely pathogenic
Select item 157727	NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)	AP4B1, AP4B1-AS1 (H268R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 218686	NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)	AP4B1, AP4B1-AS1 (T256I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +5 more	GLikely benign
Select item 386852	NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)	AP4B1, AP4B1-AS1 (V252A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity

ClinVar