C5443984[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366195	NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +3 more	GBenign/Likely benign
Select item 587963	NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)	SMARCA2	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 126353	NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)	SMARCA2 (Q238del)	Microsatellite (inframe_deletion +1 more)	Blepharophimosis-impaired intellectual development syndrome +4 more	GBenign
Select item 588909	NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro)	SMARCA2 (Q227P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588983	NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro)	SMARCA2 (Q296P)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GUncertain significance
Select item 366320	NM_003070.5(SMARCA2):c.4595-7G>C	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 126349	NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)	SMARCA2 (D1546E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 588668	NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign

ClinVar