C2745945[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709319	NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)	BEST1 (T6K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 999701	NM_004183.4(BEST1):c.427G>C (p.Val143Leu)	BEST1 (V143L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2737	NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	BEST1 (A243V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2733	NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)	BEST1 (I295del +3 more)	Microsatellite (inframe_deletion +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 878590	NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)	BEST1 (R225W +4 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 931891	NM_004183.4(BEST1):c.1444del (p.Glu482fs)	BEST1 (E376fs +4 more)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar