C4540470[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434015	NM_057175.5(NAA15):c.706C>A (p.Gln236Lys)	NAA15 (Q236K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 2689522	NM_057175.5(NAA15):c.743G>A (p.Arg248Lys)	NAA15 (R248K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 1324775	NM_057175.5(NAA15):c.1257+1G>A	NAA15	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 2434016	NM_057175.5(NAA15):c.1486A>G (p.Lys496Glu)	NAA15 (K496E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50	GUncertain significance
Select item 2434013	NM_057175.5(NAA15):c.2056+8A>G	NAA15	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 50	GLikely benign
Select item 2434014	NM_057175.5(NAA15):c.2218C>T (p.Arg740Cys)	NAA15 (R739C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1522897	NM_057175.5(NAA15):c.2591A>G (p.Asn864Ser)	NAA15 (N864S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 50 +2 more	GConflicting classifications of pathogenicity