ClinVar for Gene (Select 57560) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 651

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285459	NM_020800.3(IFT80):c.1204C>G (p.Arg402Gly)	IFT80, TRIM59-IFT80 (R265G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3285457	NM_020800.3(IFT80):c.1268C>G (p.Ser423Cys)	IFT80, TRIM59-IFT80 (S286C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246846	NC_000003.11:g.(?_159986181)_(160021797_?)del	IFT80	Deletion	Jeune thoracic dystrophy	GPathogenic
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 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
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 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 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 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 3054925	NM_020800.3(IFT80):c.2039T>C (p.Leu680Pro)	IFT80, TRIM59-IFT80 (L543P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	IFT80-related disorder	GUncertain significance
Select item 3006433	NM_020800.3(IFT80):c.141A>G (p.Thr47=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2971892	NM_020800.3(IFT80):c.2322T>C (p.Gly774=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2967572	NM_020800.3(IFT80):c.2085C>A (p.Leu695=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2963505	NM_020800.3(IFT80):c.439+14T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2958040	NM_020800.3(IFT80):c.1635G>A (p.Leu545=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2957340	NM_020800.3(IFT80):c.2025T>G (p.Ala675=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2957251	NM_020800.3(IFT80):c.744G>T (p.Ser248=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2914440	NM_020800.3(IFT80):c.2224-20_2224-17del	IFT80, TRIM59-IFT80	Deletion (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2911142	NM_020800.3(IFT80):c.1689T>A (p.Ile563=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2910537	NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)	IFT80, TRIM59-IFT80 (S97* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2909252	NM_020800.3(IFT80):c.654C>T (p.Tyr218=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2905911	NM_020800.3(IFT80):c.640-11T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2905445	NM_020800.3(IFT80):c.639+9T>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2899953	NM_020800.3(IFT80):c.1086C>T (p.Asn362=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2898743	NM_020800.3(IFT80):c.440-22_440-18del	IFT80, TRIM59-IFT80	Deletion (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2891583	NM_020800.3(IFT80):c.1381-20A>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2888490	NM_020800.3(IFT80):c.1866dup (p.Met623fs)	IFT80, TRIM59-IFT80 (M623fs +1 more)	Duplication (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2884158	NM_020800.3(IFT80):c.2043G>A (p.Gln681=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2879502	NM_020800.3(IFT80):c.12G>A (p.Lys4=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2877952	NM_020800.3(IFT80):c.1315+14T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2843379	NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)	IFT80, TRIM59-IFT80 (I640V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2823325	NM_020800.3(IFT80):c.957+8T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2821195	NM_020800.3(IFT80):c.387A>G (p.Gln129=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2817612	NM_020800.3(IFT80):c.1038C>T (p.His346=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2813259	NM_020800.3(IFT80):c.1140G>T (p.Leu380=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2813217	NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)	IFT80, TRIM59-IFT80 (W561* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2800176	NM_020800.3(IFT80):c.958-8T>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2778596	NM_020800.3(IFT80):c.958-15T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2776902	NM_020800.3(IFT80):c.949G>A (p.Ala317Thr)	IFT80, TRIM59-IFT80 (A180T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2766967	NM_020800.3(IFT80):c.1380+12T>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2765930	NM_020800.3(IFT80):c.1836+8A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2761948	NM_020800.3(IFT80):c.873A>G (p.Gly291=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2751676	NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)	IFT80, TRIM59-IFT80 (L43*)	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2733318	NM_020800.3(IFT80):c.855T>C (p.Ala285=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2722993	NM_020800.3(IFT80):c.663A>G (p.Pro221=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2717161	NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)	IFT80, TRIM59-IFT80 (Q146* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2710523	NM_020800.3(IFT80):c.1837-13T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2705771	NM_020800.3(IFT80):c.1836+20C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2704290	NM_020800.3(IFT80):c.1516+2T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2700122	NM_020800.3(IFT80):c.439+12A>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2699616	NM_020800.3(IFT80):c.1517-11T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2698991	NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC	IFT80, TRIM59-IFT80	Insertion	Jeune thoracic dystrophy	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 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 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 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 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 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 2440874	NM_020800.3(IFT80):c.1665-1del	IFT80, TRIM59-IFT80	Deletion (splice acceptor variant)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 2428183	NM_020800.3(IFT80):c.736G>C (p.Val246Leu)	IFT80, TRIM59-IFT80 (V109L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2426602	NC_000003.11:g.(?_159992649)_(160000363_?)del	IFT80	Deletion	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2426601	NC_000003.11:g.(?_159976313)_(160075386_?)dup	IFT80	Duplication	Jeune thoracic dystrophy	GUncertain significance
Select item 2426600	NC_000003.11:g.(?_159976313)_(160102388_?)dup	IFT80	Duplication	Jeune thoracic dystrophy	GUncertain significance
Select item 2426599	NC_000003.11:g.(?_160073781)_(160083960_?)del	IFT80	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 2426598	NC_000003.11:g.(?_160073781)_(160099532_?)del	IFT80	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 2426597	NC_000003.11:g.(?_160083811)_(160099532_?)del	IFT80	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 2421961	NM_020800.3(IFT80):c.2083C>G (p.Leu695Val)	IFT80, TRIM59-IFT80 (L558V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2421562	NM_020800.3(IFT80):c.1001G>A (p.Arg334His)	IFT80, TRIM59-IFT80 (R197H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2415233	NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)	IFT80, TRIM59-IFT80 (S217N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2415006	NM_020800.3(IFT80):c.1926+11A>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2414365	NM_020800.3(IFT80):c.1102A>G (p.Ile368Val)	IFT80, TRIM59-IFT80 (I231V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2413763	NM_020800.3(IFT80):c.396T>C (p.Ile132=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy	GLikely benign
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 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 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 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 2201153	NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)	IFT80, TRIM59-IFT80 (Y571* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2199283	NM_020800.3(IFT80):c.1507A>G (p.Ile503Val)	IFT80, TRIM59-IFT80 (I503V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2199174	NM_020800.3(IFT80):c.1380+15C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2195503	NM_020800.3(IFT80):c.896T>C (p.Val299Ala)	IFT80, TRIM59-IFT80 (V299A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2194634	NM_020800.3(IFT80):c.2224-7A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2192404	NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys)	IFT80, TRIM59-IFT80 (R700K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2187694	NM_020800.3(IFT80):c.1961dup (p.Asn654fs)	IFT80, TRIM59-IFT80 (N517fs +1 more)	Duplication (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2185607	NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu)	IFT80, TRIM59-IFT80 (I515L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2184527	NM_020800.3(IFT80):c.301A>G (p.Ser101Gly)	IFT80, TRIM59-IFT80 (S101G)	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2181200	NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)	IFT80, TRIM59-IFT80 (R358* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 2176592	NM_020800.3(IFT80):c.1076+1G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2176238	NM_020800.3(IFT80):c.1152-7T>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2175527	NM_020800.3(IFT80):c.2229A>G (p.Gln743=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2171304	NM_020800.3(IFT80):c.1907C>T (p.Ala636Val)	IFT80, TRIM59-IFT80 (A499V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2169908	NM_020800.3(IFT80):c.957+1G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2159594	NM_020800.3(IFT80):c.440-18T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2158144	NM_020800.3(IFT80):c.549+7C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2156692	NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)	IFT80, TRIM59-IFT80 (I303T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2153171	NM_020800.3(IFT80):c.1815G>A (p.Val605=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 2152624	NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr)	IFT80, TRIM59-IFT80 (R415T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2152540	NM_020800.3(IFT80):c.627C>A (p.Asp209Glu)	IFT80, TRIM59-IFT80 (D209E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2149068	NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys)	IFT80, TRIM59-IFT80 (E537K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2147723	NM_020800.3(IFT80):c.2223+15A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign

<< First< Prev

Page of 7