C1853926[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6025	NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	GNE (M712T +5 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GPathogenic
Select item 188882	NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	GNE (I587T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1687425	NM_005476.7(GNE):c.448A>G (p.Ile150Val)	GNE (I150V +2 more)	Single nucleotide variant (missense variant)	GNE myopathy	GLikely pathogenic

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