C1847572[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1368312	NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	RBBP8 (H98R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 127245	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	RBBP8 (R100W)	Single nucleotide variant (missense variant)	Jawad syndrome +2 more	GConflicting classifications of pathogenicity
Select item 326221	NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	RBBP8 (P246A)	Single nucleotide variant (missense variant)	Seckel syndrome 2 +2 more	GBenign/Likely benign
Select item 1515094	NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	RBBP8 (Q643P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1490360	NM_002894.3(RBBP8):c.1939+20del	RBBP8	Deletion (intron variant)	Jawad syndrome +2 more	GUncertain significance
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

ClinVar