C3888198[trait identifier] AND "Bioscientia Institut fuer Medizinische - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522452	NM_004183.4(BEST1):c.275G>T (p.Arg92Leu)	BEST1 (R92L +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	GLikely pathogenic
Select item 829895	NM_004183.4(BEST1):c.424_426dup (p.Ser142dup)	BEST1	Duplication (inframe_insertion +2 more)	Vitelliform macular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 422323	NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)	BEST1 (Q220* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 522450	NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	BEST1 (D228E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 599167	NM_004183.4(BEST1):c.695T>G (p.Ile232Ser)	BEST1 (I232S +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	GLikely pathogenic
Select item 522530	NM_004183.4(BEST1):c.956T>C (p.Leu319Pro)	BEST1 (L319P +4 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	GPathogenic
Select item 522511	NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg)	BEST1 (P457R +4 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	GPathogenic

ClinVar