"Ambry Genetics"[submitter] AND "IFT80"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108463	NM_020800.3(IFT80):c.2201G>A (p.Arg734Gln)	IFT80, TRIM59-IFT80 (R597Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 853600	NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys)	IFT80, TRIM59-IFT80 (Y637C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2469055	NM_020800.3(IFT80):c.1831G>C (p.Val611Leu)	IFT80, TRIM59-IFT80 (V611L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1407785	NM_020800.3(IFT80):c.1826G>A (p.Arg609His)	IFT80, TRIM59-IFT80 (R472H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 618688	NM_020800.3(IFT80):c.1771A>G (p.Ile591Val)	IFT80, TRIM59-IFT80 (I591V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 343967	NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp)	IFT80, TRIM59-IFT80 (N560D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 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)	Asphyxiating thoracic dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 2612885	NM_020800.3(IFT80):c.1495G>C (p.Glu499Gln)	IFT80, TRIM59-IFT80 (E362Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1941741	NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)	IFT80, TRIM59-IFT80 (R358Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 3108461	NM_020800.3(IFT80):c.1478T>C (p.Val493Ala)	IFT80, TRIM59-IFT80 (V493A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485850	NM_020800.3(IFT80):c.1429A>G (p.Arg477Gly)	IFT80, TRIM59-IFT80 (R340G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 938688	NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg)	IFT80, TRIM59-IFT80 (G448R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536745	NM_020800.3(IFT80):c.1227T>G (p.Phe409Leu)	IFT80, TRIM59-IFT80 (F272L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1026307	NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys)	IFT80, TRIM59-IFT80 (R265C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 942970	NM_020800.3(IFT80):c.1052C>T (p.Thr351Met)	IFT80, TRIM59-IFT80 (T351M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3108460	NM_020800.3(IFT80):c.1028A>G (p.Asn343Ser)	IFT80, TRIM59-IFT80 (N206S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281980	NM_020800.3(IFT80):c.919A>C (p.Asn307His)	IFT80, TRIM59-IFT80 (N307H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1052676	NM_020800.3(IFT80):c.835A>G (p.Ile279Val)	TRIM59-IFT80, IFT80 (I142V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3108466	NM_020800.3(IFT80):c.799C>T (p.Pro267Ser)	IFT80, TRIM59-IFT80 (P267S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 859489	NM_020800.3(IFT80):c.758G>A (p.Arg253His)	IFT80, TRIM59-IFT80 (R116H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2304524	NM_020800.3(IFT80):c.715C>T (p.Pro239Ser)	IFT80, TRIM59-IFT80 (P102S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 902122	NM_020800.3(IFT80):c.655G>A (p.Gly219Ser)	IFT80, TRIM59-IFT80 (G219S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2485309	NM_020800.3(IFT80):c.629G>A (p.Cys210Tyr)	IFT80, TRIM59-IFT80 (C210Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2055114	NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)	IFT80, TRIM59-IFT80 (S198L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 902125	NM_020800.3(IFT80):c.511A>G (p.Ile171Val)	TRIM59-IFT80, IFT80 (I171V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 2486086	NM_020800.3(IFT80):c.491A>T (p.Tyr164Phe)	IFT80, TRIM59-IFT80 (Y27F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1061394	NM_020800.3(IFT80):c.461C>T (p.Ala154Val)	IFT80, TRIM59-IFT80 (A154V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2320325	NM_020800.3(IFT80):c.328C>T (p.Leu110Phe)	IFT80, TRIM59-IFT80 (L110F)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256425	NM_020800.3(IFT80):c.214A>G (p.Lys72Glu)	IFT80, TRIM59-IFT80 (K72E)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 903010	NM_020800.3(IFT80):c.209G>A (p.Gly70Asp)	IFT80, TRIM59-IFT80 (G70D)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 3108462	NM_020800.3(IFT80):c.199A>G (p.Lys67Glu)	IFT80, TRIM59-IFT80 (K67E)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3108465	NM_020800.3(IFT80):c.56G>A (p.Cys19Tyr)	IFT80, TRIM59-IFT80 (C19Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 34