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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627599	NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)	NAA15 (Q219*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 1218548	NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)	NAA15 (R549*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50 +1 more	GPathogenic/Likely pathogenic
Select item 983082	NM_057175.5(NAA15):c.1754-2A>G	NAA15	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 50	GPathogenic
Select item 1299318	NM_057175.5(NAA15):c.1772del (p.Glu591fs)	NAA15 (E591fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 1324774	NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)	NAA15 (R782*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 50 +1 more	GPathogenic/Likely pathogenic
Select item 3359070	NM_057175.5(NAA15):c.139+1G>A	NAA15	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 50	GPathogenic

ClinVar