"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 702122	NM_020800.3(IFT80):c.2156G>A (p.Arg719His)	IFT80, TRIM59-IFT80 (R582H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 902942	NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)	IFT80, TRIM59-IFT80 (E363G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 497265	NM_020800.3(IFT80):c.1076+9C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 193733	NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe)	IFT80, TRIM59-IFT80 (S359F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GBenign
Select item 499904	NM_020800.3(IFT80):c.937A>G (p.Thr313Ala)	IFT80, TRIM59-IFT80 (T313A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 700235	NM_020800.3(IFT80):c.879C>T (p.Val293=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 343975	NM_020800.3(IFT80):c.807T>C (p.Thr269=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1702449	NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr)	IFT80, TRIM59-IFT80 (N224Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Connective tissue disorder	GUncertain significance
Select item 902123	NM_020800.3(IFT80):c.639+5A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1667017	NM_020800.3(IFT80):c.550-4A>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 697925	NM_020800.3(IFT80):c.546G>A (p.Leu182=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 343980	NM_020800.3(IFT80):c.462G>A (p.Ala154=)	IFT80, TRIM59-IFT80	Single nucleotide variant (synonymous variant +1 more)	Jeune thoracic dystrophy +2 more	GBenign
Select item 284855	NM_020800.3(IFT80):c.371-10C>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2 +4 more	GBenign/Likely benign
Select item 343982	NM_020800.3(IFT80):c.282G>A (p.Lys94=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +3 more	GBenign/Likely benign
Select item 1165511	NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)	IFT80, TRIM59-IFT80 (I5L)	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity