C3808107[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257615	NM_001195.5(BFSP1):c.1749A>G (p.Pro583=)	BFSP1	Single nucleotide variant (synonymous variant)	Cataract 33 +2 more	GBenign
Select item 257614	NM_001195.5(BFSP1):c.1500G>A (p.Ala500=)	BFSP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 257612	NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser)	BFSP1 (G345S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1192354	NM_001195.5(BFSP1):c.957-83T>C	BFSP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192355	NM_001195.5(BFSP1):c.735+121G>T	BFSP1	Single nucleotide variant (intron variant)	Cataract 33 +1 more	GBenign
Select item 1192356	NM_001195.5(BFSP1):c.535-42G>A	BFSP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar