"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99766	NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)	BEST1, FTH1 (P297S +2 more)	Single nucleotide variant (missense variant +4 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193666	NM_004183.4(BEST1):c.1410G>A (p.Thr470=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Iron Overload +9 more	GBenign
Select item 193667	NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	BEST1, FTH1 (V492I +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GBenign/Likely benign
Select item 305130	NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)	BEST1, FTH1 (S507P +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GConflicting classifications of pathogenicity
Select item 99680	NM_004183.4(BEST1):c.1557C>T (p.Ser519=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +7 more	GBenign
Select item 99682	NM_004183.4(BEST1):c.1608T>C (p.Thr536=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Vitelliform macular dystrophy 2 +7 more	GBenign
Select item 99684	NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)	BEST1, FTH1 (E557K +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +5 more	GConflicting classifications of pathogenicity

ClinVar