C5551362[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333589	NM_020719.3(PRR12):c.2247C>G (p.Tyr749Ter)	PRR12 (Y749*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 1526075	NM_020719.3(PRR12):c.2831_2832dup (p.Ser945fs)	PRR12 (S945fs)	Microsatellite (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1687383	NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter)	PRR12 (R1209*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GConflicting classifications of pathogenicity
Select item 1705305	NM_020719.3(PRR12):c.3959_3978del (p.Arg1320fs)	PRR12 (R1320fs)	Deletion (frameshift variant)	Neuroocular syndrome	GLikely pathogenic

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