C1303073[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2540713	NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)	SMARCA2 (H74R)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1687150	NM_003070.5(SMARCA2):c.2508C>A (p.Asp836Glu)	SMARCA2 (D836E)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2444104	NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)	SMARCA2 (P886Q +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 2444239	NM_003070.5(SMARCA2):c.3026T>C (p.Ile1009Thr)	SMARCA2 (I1009T +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1320261	NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly)	SMARCA2 (A1102G +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 373431	NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)	SMARCA2 (R1162C +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2436133	NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr)	SMARCA2 (C1238Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar