"Clinical Genetics, Academic Medical Center"[submitter] AND "BEST1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99696	NM_004183.4(BEST1):c.244C>G (p.Leu82Val)	BEST1 (L82V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 99729	NM_004183.4(BEST1):c.624G>A (p.Gln208=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1284261	NM_004183.4(BEST1):c.641T>C (p.Met214Thr)	BEST1 (M108T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2731	NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)	BEST1 (Y227N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 386501	NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)	BEST1 (A352T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
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

ClinVar