C4277690[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061837	NM_016122.3(CEP83):c.1588G>T (p.Glu530Ter)	CEP83 (E426* +2 more)	Single nucleotide variant (nonsense +1 more)	Ciliopathy	GLikely pathogenic
Select item 381892	NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)	CEP83 (D373V +2 more)	Single nucleotide variant (missense variant +1 more)	Ciliopathy +2 more	GConflicting classifications of pathogenicity