"Revvity Omics, Revvity"[submitter] AND "RBBP8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689862	NM_002894.3(RBBP8):c.65A>C (p.Asp22Ala)	RBBP8 (D22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324995	NM_002894.3(RBBP8):c.367G>T (p.Glu123Ter)	RBBP8 (E123*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1424292	NM_002894.3(RBBP8):c.985G>A (p.Val329Ile)	RBBP8 (V329I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1444167	NM_002894.3(RBBP8):c.1063A>G (p.Lys355Glu)	RBBP8 (K355E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324996	NM_002894.3(RBBP8):c.1072del (p.His358fs)	RBBP8 (H358fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2689861	NM_002894.3(RBBP8):c.1487G>A (p.Arg496Gln)	RBBP8 (R496Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 326234	NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)	RBBP8 (R839Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar