ClinVar for MedGen (Select 370804) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24408741.	NM_020800.3(IFT80):c.1665-1del GRCh37: Chr3:159997153 GRCh38: Chr3:160279365	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 14077852.	NM_020800.3(IFT80):c.1826G>A (p.Arg609His) GRCh37: Chr3:159996991 GRCh38: Chr3:160279203	IFT80, TRIM59-IFT80	R472H, R609H	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Inborn genetic diseases	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13308513.	NM_020800.3(IFT80):c.411dup (p.Met138fs) GRCh37: Chr3:160093627-160093628 GRCh38: Chr3:160375839-160375840	TRIM59-IFT80, IFT80	M138fs, M1fs	Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy	Pathogenic/Likely pathogenic (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9924804.	NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) GRCh37: Chr3:160093638 GRCh38: Chr3:160375850	IFT80, TRIM59-IFT80	S134*	Asphyxiating thoracic dystrophy 2	Likely pathogenic (Dec 21, 2020)	criteria provided, single submitter
Select item 9833055.	NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) GRCh37: Chr3:159995145 GRCh38: Chr3:160277357	TRIM59-IFT80, IFT80	G546V	Asphyxiating thoracic dystrophy 2	Pathogenic (Nov 9, 2020)	no assertion criteria provided
Select item 9566026.	NM_020800.3(IFT80):c.958-1G>T GRCh37: Chr3:160025570 GRCh38: Chr3:160307782	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9030107.	NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) GRCh37: Chr3:160099341 GRCh38: Chr3:160381553	IFT80, TRIM59-IFT80	G70D	Inborn genetic diseases, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9030098.	NM_020800.3(IFT80):c.371T>C (p.Val124Ala) GRCh37: Chr3:160093668 GRCh38: Chr3:160375880	IFT80, TRIM59-IFT80	V124A	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9029459.	NM_020800.3(IFT80):c.1151+13G>A GRCh37: Chr3:160021690 GRCh38: Chr3:160303902	TRIM59-IFT80, IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90294410.	NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) GRCh37: Chr3:160003633 GRCh38: Chr3:160285845	IFT80, TRIM59-IFT80	T310A, T447A	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90294311.	NM_020800.3(IFT80):c.1401T>C (p.Ala467=) GRCh37: Chr3:160000381 GRCh38: Chr3:160282593	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90294212.	NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) GRCh37: Chr3:160000283 GRCh38: Chr3:160282495	IFT80, TRIM59-IFT80	E363G, E500G	Jeune thoracic dystrophy, Connective tissue disorder, Inborn genetic diseases, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Nov 8, 2022)	criteria provided, conflicting interpretations
Select item 90289613.	NM_020800.3(IFT80):c.*659C>G GRCh37: Chr3:159975654 GRCh38: Chr3:160257866	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90289514.	NM_020800.3(IFT80):c.*740G>T GRCh37: Chr3:159975573 GRCh38: Chr3:160257785	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90289415.	NM_020800.3(IFT80):c.*792T>G GRCh37: Chr3:159975521 GRCh38: Chr3:160257733	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90289316.	NM_020800.3(IFT80):c.*797A>C GRCh37: Chr3:159975516 GRCh38: Chr3:160257728	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90212617.	NM_020800.3(IFT80):c.468C>T (p.Gly156=) GRCh37: Chr3:160083912 GRCh38: Chr3:160366124	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 90212518.	NM_020800.3(IFT80):c.511A>G (p.Ile171Val) GRCh37: Chr3:160083869 GRCh38: Chr3:160366081	IFT80, TRIM59-IFT80	I171V, I34V	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Inborn genetic diseases	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90212419.	NM_020800.3(IFT80):c.617C>A (p.Ala206Asp) GRCh37: Chr3:160075299 GRCh38: Chr3:160357511	IFT80, TRIM59-IFT80	A69D, A206D	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90212320.	NM_020800.3(IFT80):c.639+5A>G GRCh37: Chr3:160075272 GRCh38: Chr3:160357484	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy, Connective tissue disorder	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 90212221.	NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) GRCh37: Chr3:160073923 GRCh38: Chr3:160356135	IFT80, TRIM59-IFT80	G219S, G82S	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90206422.	NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) GRCh37: Chr3:159998594 GRCh38: Chr3:160280806	IFT80, TRIM59-IFT80	V372L, V509L	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90200123.	NM_020800.3(IFT80):c.*887T>C GRCh37: Chr3:159975426 GRCh38: Chr3:160257638	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90200024.	NM_020800.3(IFT80):c.*944A>G GRCh37: Chr3:159975369 GRCh38: Chr3:160257581	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90199925.	NM_020800.3(IFT80):c.*1089T>C GRCh37: Chr3:159975224 GRCh38: Chr3:160257436	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90199826.	NM_020800.3(IFT80):c.*1110A>G GRCh37: Chr3:159975203 GRCh38: Chr3:160257415	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90199727.	NM_020800.3(IFT80):c.*1121T>C GRCh37: Chr3:159975192 GRCh38: Chr3:160257404	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90199628.	NM_020800.3(IFT80):c.*1204G>A GRCh37: Chr3:159975109 GRCh38: Chr3:160257321	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90199529.	NM_020800.3(IFT80):c.*1222T>C GRCh37: Chr3:159975091 GRCh38: Chr3:160257303	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90149330.	NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe) GRCh37: Chr3:159995155 GRCh38: Chr3:160277367	IFT80, TRIM59-IFT80	L543F, L680F	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90149231.	NM_020800.3(IFT80):c.2224-9C>T GRCh37: Chr3:159976432 GRCh38: Chr3:160258644	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 90149132.	NM_020800.3(IFT80):c.*94A>G GRCh37: Chr3:159976219 GRCh38: Chr3:160258431	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90149033.	NM_020800.3(IFT80):c.*102C>A GRCh37: Chr3:159976211 GRCh38: Chr3:160258423	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90143734.	NM_020800.3(IFT80):c.*1254C>T GRCh37: Chr3:159975059 GRCh38: Chr3:160257271	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90143635.	NM_020800.3(IFT80):c.*1365C>G GRCh37: Chr3:159974948 GRCh38: Chr3:160257160	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90046136.	NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) GRCh37: Chr3:160073910 GRCh38: Chr3:160356122	IFT80, TRIM59-IFT80	Y223C, Y86C	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90046037.	NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) GRCh37: Chr3:160073887 GRCh38: Chr3:160356099	IFT80, TRIM59-IFT80	P231S, P94S	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90045938.	NM_020800.3(IFT80):c.804C>T (p.Asn268=) GRCh37: Chr3:160037701 GRCh38: Chr3:160319913	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 90045839.	NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) GRCh37: Chr3:160037663 GRCh38: Chr3:160319875	IFT80, TRIM59-IFT80	G144D, G281D	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90039640.	NM_020800.3(IFT80):c.957+15C>T GRCh37: Chr3:160037533 GRCh38: Chr3:160319745	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90039541.	NM_020800.3(IFT80):c.1104A>T (p.Ile368=) GRCh37: Chr3:160021750 GRCh38: Chr3:160303962	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 90033842.	NM_020800.3(IFT80):c.*108A>G GRCh37: Chr3:159976205 GRCh38: Chr3:160258417	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90033743.	NM_020800.3(IFT80):c.*130G>C GRCh37: Chr3:159976183 GRCh38: Chr3:160258395	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90033644.	NM_020800.3(IFT80):c.*318C>T GRCh37: Chr3:159975995 GRCh38: Chr3:160258207	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90033545.	NM_020800.3(IFT80):c.*319G>A GRCh37: Chr3:159975994 GRCh38: Chr3:160258206	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90033446.	NM_020800.3(IFT80):c.*397A>G GRCh37: Chr3:159975916 GRCh38: Chr3:160258128	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90033347.	NM_020800.3(IFT80):c.*417A>G GRCh37: Chr3:159975896 GRCh38: Chr3:160258108	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85948948.	NM_020800.3(IFT80):c.758G>A (p.Arg253His) GRCh37: Chr3:160073820 GRCh38: Chr3:160356032	TRIM59-IFT80, IFT80	R116H, R253H	Inborn genetic diseases, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84591649.	NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) GRCh37: Chr3:160018698 GRCh38: Chr3:160300910	IFT80, TRIM59-IFT80	A293T, A430T	Jeune thoracic dystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 81205950.	NM_020800.3(IFT80):c.1326C>G (p.Leu442=) GRCh37: Chr3:160003646 GRCh38: Chr3:160285858	TRIM59-IFT80, IFT80		Asphyxiating thoracic dystrophy 2	Likely benign (Jun 23, 2019)	criteria provided, single submitter
Select item 81104351.	NM_020800.3(IFT80):c.440-12T>G GRCh37: Chr3:160083952 GRCh38: Chr3:160366164	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Likely benign (Feb 15, 2019)	criteria provided, single submitter
Select item 81104252.	NM_020800.3(IFT80):c.777+20A>G GRCh37: Chr3:160073781 GRCh38: Chr3:160355993	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70212253.	NM_020800.3(IFT80):c.2156G>A (p.Arg719His) GRCh37: Chr3:159986268 GRCh38: Chr3:160268480	IFT80, TRIM59-IFT80	R582H, R719H	Inborn genetic diseases, Jeune thoracic dystrophy, Connective tissue disorder, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 70023554.	NM_020800.3(IFT80):c.879C>T (p.Val293=) GRCh37: Chr3:160037626 GRCh38: Chr3:160319838	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Connective tissue disorder, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 69727955.	NM_020800.3(IFT80):c.912G>A (p.Glu304=) GRCh37: Chr3:160037593 GRCh38: Chr3:160319805	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 69528456.	NM_020800.3(IFT80):c.2139T>C (p.Asp713=) GRCh37: Chr3:159986285 GRCh38: Chr3:160268497	TRIM59-IFT80, IFT80		Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63241157.	NM_020800.3(IFT80):c.38-1C>G GRCh37: Chr3:160099513 GRCh38: Chr3:160381725	TRIM59-IFT80, IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63241058.	NM_020800.3(IFT80):c.1381-1G>T GRCh37: Chr3:160000402 GRCh38: Chr3:160282614	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Aug 30, 2017)	criteria provided, single submitter
Select item 50158659.	NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) GRCh37: Chr3:159986266 GRCh38: Chr3:160268478	IFT80, TRIM59-IFT80	Q720K, Q583K	Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 45928460.	NM_020800.3(IFT80):c.880G>A (p.Val294Ile) GRCh37: Chr3:160037625 GRCh38: Chr3:160319837	IFT80, TRIM59-IFT80	V294I, V157I	Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 2	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42942861.	NM_020800.3(IFT80):c.1646_1648del (p.Leu549del) GRCh37: Chr3:159998471-159998473 GRCh38: Chr3:160280683-160280685	IFT80, TRIM59-IFT80	L549del, L412del	not provided	Likely pathogenic (May 9, 2017)	criteria provided, single submitter
Select item 40621862.	NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) GRCh37: Chr3:160073857 GRCh38: Chr3:160356069	IFT80, TRIM59-IFT80	G241R, G104R	not provided, Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 40621763.	NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) GRCh37: Chr3:160021761 GRCh38: Chr3:160303973	TRIM59-IFT80, IFT80	T365A, T228A	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 34398664.	NM_020800.3(IFT80):c.-98G>C GRCh37: Chr3:160116985 GRCh38: Chr3:160399197	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34398565.	NM_020800.3(IFT80):c.-40C>T GRCh37: Chr3:160102428 GRCh38: Chr3:160384640	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34398366.	NM_020800.3(IFT80):c.44A>G (p.Glu15Gly) GRCh37: Chr3:160099506 GRCh38: Chr3:160381718	IFT80, TRIM59-IFT80	E15G	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34398267.	NM_020800.3(IFT80):c.282G>A (p.Lys94=) GRCh37: Chr3:160095306 GRCh38: Chr3:160377518	IFT80, TRIM59-IFT80		Connective tissue disorder, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34398168.	NM_020800.3(IFT80):c.370+6T>C GRCh37: Chr3:160095212 GRCh38: Chr3:160377424	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34398069.	NM_020800.3(IFT80):c.462G>A (p.Ala154=) GRCh37: Chr3:160083918 GRCh38: Chr3:160366130	TRIM59-IFT80, IFT80		Jeune thoracic dystrophy, Connective tissue disorder, Asphyxiating thoracic dystrophy 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34397970.	NM_020800.3(IFT80):c.483G>T (p.Lys161Asn) GRCh37: Chr3:160083897 GRCh38: Chr3:160366109	IFT80, TRIM59-IFT80	K161N, K24N	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34397871.	NM_020800.3(IFT80):c.634T>C (p.Tyr212His) GRCh37: Chr3:160075282 GRCh38: Chr3:160357494	IFT80, TRIM59-IFT80	Y212H, Y75H	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34397772.	NM_020800.3(IFT80):c.707C>T (p.Ala236Val) GRCh37: Chr3:160073871 GRCh38: Chr3:160356083	IFT80, TRIM59-IFT80	A236V, A99V	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34397673.	NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) GRCh37: Chr3:160073868 GRCh38: Chr3:160356080	IFT80, TRIM59-IFT80	W237, W100	Asphyxiating thoracic dystrophy 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 34397574.	NM_020800.3(IFT80):c.807T>C (p.Thr269=) GRCh37: Chr3:160037698 GRCh38: Chr3:160319910	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2, Connective tissue disorder	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 34397475.	NM_020800.3(IFT80):c.897G>A (p.Val299=) GRCh37: Chr3:160037608 GRCh38: Chr3:160319820	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, not specified, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 34397376.	NM_020800.3(IFT80):c.1053G>A (p.Thr351=) GRCh37: Chr3:160025474 GRCh38: Chr3:160307686	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 34397277.	NM_020800.3(IFT80):c.1069G>A (p.Val357Met) GRCh37: Chr3:160025458 GRCh38: Chr3:160307670	IFT80, TRIM59-IFT80	V357M, V220M	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34397178.	NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) GRCh37: Chr3:160021728 GRCh38: Chr3:160303940	IFT80, TRIM59-IFT80	V376L, V239L	Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 2	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34397079.	NM_020800.3(IFT80):c.1205G>A (p.Arg402His) GRCh37: Chr3:160018781 GRCh38: Chr3:160300993	IFT80, TRIM59-IFT80	R402H, R265H	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34396980.	NM_020800.3(IFT80):c.1316-13A>C GRCh37: Chr3:160003669 GRCh38: Chr3:160285881	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34396881.	NM_020800.3(IFT80):c.1326C>T (p.Leu442=) GRCh37: Chr3:160003646 GRCh38: Chr3:160285858	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 34396782.	NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) GRCh37: Chr3:159997139 GRCh38: Chr3:160279351	IFT80, TRIM59-IFT80	N560D, N423D	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 34396683.	NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) GRCh37: Chr3:159997061 GRCh38: Chr3:160279273	IFT80, TRIM59-IFT80	T586S, T449S	Jeune thoracic dystrophy, not specified, Asphyxiating thoracic dystrophy 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34396584.	NM_020800.3(IFT80):c.1926+13T>C GRCh37: Chr3:159995356 GRCh38: Chr3:160277568	IFT80, TRIM59-IFT80		not specified, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34396485.	NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu) GRCh37: Chr3:159995200 GRCh38: Chr3:160277412	IFT80, TRIM59-IFT80	I665L, I528L	Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34396386.	NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) GRCh37: Chr3:159995179 GRCh38: Chr3:160277391	IFT80, TRIM59-IFT80	I672V, I535V	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34396287.	NM_020800.3(IFT80):c.2205C>T (p.Tyr735=) GRCh37: Chr3:159986219 GRCh38: Chr3:160268431	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34396188.	NM_020800.3(IFT80):c.2289A>G (p.Gln763=) GRCh37: Chr3:159976358 GRCh38: Chr3:160258570	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 34396089.	NM_020800.3(IFT80):c.*42G>A GRCh37: Chr3:159976271 GRCh38: Chr3:160258483	IFT80, TRIM59-IFT80		not provided, Asphyxiating thoracic dystrophy 2	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34395990.	NM_020800.3(IFT80):c.*104G>A GRCh37: Chr3:159976209 GRCh38: Chr3:160258421	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34395891.	NM_020800.3(IFT80):c.*540A>G GRCh37: Chr3:159975773 GRCh38: Chr3:160257985	TRIM59-IFT80, IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34395792.	NM_020800.3(IFT80):c.*551A>G GRCh37: Chr3:159975762 GRCh38: Chr3:160257974	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34395693.	NM_020800.3(IFT80):c.*677A>G GRCh37: Chr3:159975636 GRCh38: Chr3:160257848	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34395594.	NM_020800.3(IFT80):c.*767G>C GRCh37: Chr3:159975546 GRCh38: Chr3:160257758	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34395495.	NM_020800.3(IFT80):c.*844G>T GRCh37: Chr3:159975469 GRCh38: Chr3:160257681	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34395396.	NM_020800.3(IFT80):c.*937A>T GRCh37: Chr3:159975376 GRCh38: Chr3:160257588	IFT80, TRIM59-IFT80		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28485597.	NM_020800.3(IFT80):c.371-10C>A GRCh37: Chr3:160093678 GRCh38: Chr3:160375890	IFT80, TRIM59-IFT80		not specified, Connective tissue disorder, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20219498.	NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) GRCh37: Chr3:160037636 GRCh38: Chr3:160319848	IFT80, TRIM59-IFT80	N290S, N153S	Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 2	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19650199.	NM_020800.3(IFT80):c.60G>A (p.Val20=) GRCh37: Chr3:160099490 GRCh38: Chr3:160381702	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 2	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 194780100.	NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) GRCh37: Chr3:159995431 GRCh38: Chr3:160277643	IFT80, TRIM59-IFT80	A622T, A485T	Jeune thoracic dystrophy, not specified, not provided, Asphyxiating thoracic dystrophy 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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