"Fulgent Genetics, Fulgent Genetics"[submitter] AND "IFT80"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501586	NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)	IFT80, TRIM59-IFT80 (Q720K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 194779	NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)	IFT80, TRIM59-IFT80 (R628Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance