C1859093[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333223	NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly)	PNPLA6 (A239G +2 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +1 more	GUncertain significance
Select item 1333230	NM_001166114.2(PNPLA6):c.3832A>G (p.Ser1278Gly)	PNPLA6 (S1213G +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GUncertain significance