"Eurofins Ntd Llc (ga)"[submitter] AND "IFT80"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283927	NM_020800.3(IFT80):c.2307C>T (p.Ser769=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
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)	not provided +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)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 194780	NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr)	IFT80, TRIM59-IFT80 (A622T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +3 more	GBenign/Likely benign
Select item 499134	NM_020800.3(IFT80):c.1837-6_1837-2del	IFT80, TRIM59-IFT80	Microsatellite (splice acceptor variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 194670	NM_020800.3(IFT80):c.1825C>T (p.Arg609Cys)	IFT80, TRIM59-IFT80 (R609C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 498477	NM_020800.3(IFT80):c.1769C>T (p.Ala590Val)	IFT80, TRIM59-IFT80 (A590V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 596875	NM_020800.3(IFT80):c.1468A>G (p.Ile490Val)	IFT80, TRIM59-IFT80 (I490V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 598099	NM_020800.3(IFT80):c.1150A>C (p.Arg384=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 497265	NM_020800.3(IFT80):c.1076+9C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Connective tissue disorder +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)	Connective tissue disorder +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)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 220229	NM_020800.3(IFT80):c.933A>G (p.Thr311=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GBenign
Select item 343974	NM_020800.3(IFT80):c.897G>A (p.Val299=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 406218	NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	TRIM59-IFT80, IFT80 (G241R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 284855	NM_020800.3(IFT80):c.371-10C>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +4 more	GBenign/Likely benign
Select item 196501	NM_020800.3(IFT80):c.60G>A (p.Val20=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +2 more	GConflicting classifications of pathogenicity