"Baylor Genetics"[submitter] AND "RBBP8"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033553	NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer)	RBBP8	Deletion (nonsense)	Jawad syndrome	GPathogenic
Select item 1033552	NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	RBBP8 (E716K)	Single nucleotide variant (missense variant)	Jawad syndrome +3 more	GUncertain significance
Select item 1030603	NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met)	RBBP8 (T812M)	Single nucleotide variant (missense variant +1 more)	Jawad syndrome +2 more	GUncertain significance

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