C1970005[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901436	NM_020800.3(IFT80):c.*1365C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901437	NM_020800.3(IFT80):c.*1254C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901995	NM_020800.3(IFT80):c.*1222T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901996	NM_020800.3(IFT80):c.*1204G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GBenign
Select item 901997	NM_020800.3(IFT80):c.*1121T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901998	NM_020800.3(IFT80):c.*1110A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901999	NM_020800.3(IFT80):c.*1089T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GLikely benign
Select item 902000	NM_020800.3(IFT80):c.*944A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343953	NM_020800.3(IFT80):c.*937A>T	IFT80, TRIM59-IFT80	Single nucleotide variant (3 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902001	NM_020800.3(IFT80):c.*887T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343954	NM_020800.3(IFT80):c.*844G>T	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902893	NM_020800.3(IFT80):c.*797A>C	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902894	NM_020800.3(IFT80):c.*792T>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343955	NM_020800.3(IFT80):c.*767G>C	IFT80, TRIM59-IFT80	Single nucleotide variant (3 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902895	NM_020800.3(IFT80):c.*740G>T	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343956	NM_020800.3(IFT80):c.*677A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902896	NM_020800.3(IFT80):c.*659C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343957	NM_020800.3(IFT80):c.*551A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343958	NM_020800.3(IFT80):c.*540A>G	TRIM59-IFT80, IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 900333	NM_020800.3(IFT80):c.*417A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 900334	NM_020800.3(IFT80):c.*397A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 900335	NM_020800.3(IFT80):c.*319G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 900336	NM_020800.3(IFT80):c.*318C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 900337	NM_020800.3(IFT80):c.*130G>C	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 900338	NM_020800.3(IFT80):c.*108A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343959	NM_020800.3(IFT80):c.*104G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901490	NM_020800.3(IFT80):c.*102C>A	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 901491	NM_020800.3(IFT80):c.*94A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343960	NM_020800.3(IFT80):c.*42G>A	TRIM59-IFT80, IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 343961	NM_020800.3(IFT80):c.2289A>G (p.Gln763=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 901492	NM_020800.3(IFT80):c.2224-9C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 343962	NM_020800.3(IFT80):c.2205C>T (p.Tyr735=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	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 901493	NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe)	IFT80, TRIM59-IFT80 (L543F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343963	NM_020800.3(IFT80):c.2014A>G (p.Ile672Val)	IFT80, TRIM59-IFT80 (I672V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 343964	NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu)	IFT80, TRIM59-IFT80 (I665L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343965	NM_020800.3(IFT80):c.1926+13T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2 +2 more	GBenign
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)	Jeune thoracic dystrophy +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 +2 more	GBenign/Likely benign
Select item 343966	NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser)	IFT80, TRIM59-IFT80 (T586S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 902064	NM_020800.3(IFT80):c.1525G>T (p.Val509Leu)	IFT80, TRIM59-IFT80 (V372L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 902942	NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)	TRIM59-IFT80, 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 902943	NM_020800.3(IFT80):c.1401T>C (p.Ala467=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 632410	NM_020800.3(IFT80):c.1381-1G>T	IFT80, TRIM59-IFT80	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902944	NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala)	IFT80, TRIM59-IFT80 (T310A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 343968	NM_020800.3(IFT80):c.1326C>T (p.Leu442=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 343969	NM_020800.3(IFT80):c.1316-13A>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343970	NM_020800.3(IFT80):c.1205G>A (p.Arg402His)	IFT80, TRIM59-IFT80 (R402H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 902945	NM_020800.3(IFT80):c.1151+13G>A	TRIM59-IFT80, IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 343971	NM_020800.3(IFT80):c.1126G>C (p.Val376Leu)	IFT80, TRIM59-IFT80 (V376L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 900395	NM_020800.3(IFT80):c.1104A>T (p.Ile368=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
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 343972	NM_020800.3(IFT80):c.1069G>A (p.Val357Met)	IFT80, TRIM59-IFT80 (V357M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 343973	NM_020800.3(IFT80):c.1053G>A (p.Thr351=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 900396	NM_020800.3(IFT80):c.957+15C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 697279	NM_020800.3(IFT80):c.912G>A (p.Glu304=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 343974	NM_020800.3(IFT80):c.897G>A (p.Val299=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 459284	NM_020800.3(IFT80):c.880G>A (p.Val294Ile)	IFT80, TRIM59-IFT80 (V294I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 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 202194	NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)	IFT80, TRIM59-IFT80 (N290S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 900458	NM_020800.3(IFT80):c.842G>A (p.Gly281Asp)	IFT80, TRIM59-IFT80 (G144D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
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 900459	NM_020800.3(IFT80):c.804C>T (p.Asn268=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 343976	NM_020800.3(IFT80):c.710G>A (p.Trp237Ter)	IFT80, TRIM59-IFT80 (W237* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GConflicting classifications of pathogenicity
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
Select item 900460	NM_020800.3(IFT80):c.691C>T (p.Pro231Ser)	IFT80, TRIM59-IFT80 (P231S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 900461	NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys)	IFT80, TRIM59-IFT80 (Y223C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	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)	Asphyxiating thoracic dystrophy 2 +2 more	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 343978	NM_020800.3(IFT80):c.634T>C (p.Tyr212His)	IFT80, TRIM59-IFT80 (Y212H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 902124	NM_020800.3(IFT80):c.617C>A (p.Ala206Asp)	IFT80, TRIM59-IFT80 (A69D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	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 343979	NM_020800.3(IFT80):c.483G>T (p.Lys161Asn)	IFT80, TRIM59-IFT80 (K161N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 902126	NM_020800.3(IFT80):c.468C>T (p.Gly156=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +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 903009	NM_020800.3(IFT80):c.371T>C (p.Val124Ala)	IFT80, TRIM59-IFT80 (V124A)	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 284855	NM_020800.3(IFT80):c.371-10C>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 343981	NM_020800.3(IFT80):c.370+6T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 343982	NM_020800.3(IFT80):c.282G>A (p.Lys94=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	IFT80-related condition +3 more	GBenign/Likely benign
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 196501	NM_020800.3(IFT80):c.60G>A (p.Val20=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 343983	NM_020800.3(IFT80):c.44A>G (p.Glu15Gly)	IFT80, TRIM59-IFT80 (E15G)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 632411	NM_020800.3(IFT80):c.38-1C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (splice acceptor variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 343985	NM_020800.3(IFT80):c.-40C>T	TRIM59-IFT80, IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GBenign
Select item 343986	NM_020800.3(IFT80):c.-98G>C	IFT80, TRIM59-IFT80	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance

ClinVar

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Items: 86