ClinVar for MedGen (Select 393944) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064733	NM_017429.3(BCO1):c.425A>G (p.Asn142Ser)	BCO1 (N142S)	Single nucleotide variant (missense variant)	Hereditary hypercarotenemia and vitamin A deficiency	GUncertain significance
Select item 4772	NM_017429.3(BCO1):c.509C>T (p.Thr170Met)	BCO1 (T170M)	Single nucleotide variant (missense variant)	BCO1-related disorder +1 more	GUncertain significance