"Department of Pathology and Laboratory Medicine, Sinai Health System" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1050511	NM_020800.3(IFT80):c.1378A>G (p.Lys460Glu)	IFT80, TRIM59-IFT80 (K323E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 343977	NM_020800.3(IFT80):c.707C>T (p.Ala236Val)	IFT80, TRIM59-IFT80 (A236V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance