ClinVar for MedGen (Select 370804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3588753	NM_020800.3(IFT80):c.1A>G (p.Met1Val)	IFT80, TRIM59-IFT80 (M1V)	Single nucleotide variant (non-coding transcript variant +3 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588752	NM_020800.3(IFT80):c.24A>T (p.Leu8Phe)	IFT80, TRIM59-IFT80 (L8F)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588751	NM_020800.3(IFT80):c.31C>T (p.Pro11Ser)	IFT80, TRIM59-IFT80 (P11S)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588750	NM_020800.3(IFT80):c.35A>G (p.Lys12Arg)	IFT80, TRIM59-IFT80 (K12R)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588749	NM_020800.3(IFT80):c.135T>A (p.Ser45Arg)	TRIM59-IFT80, IFT80 (S45R)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588747	NM_020800.3(IFT80):c.203G>A (p.Ser68Asn)	IFT80, TRIM59-IFT80 (S68N)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588746	NM_020800.3(IFT80):c.248_249del (p.Thr83fs)	IFT80, TRIM59-IFT80 (T83fs)	Microsatellite (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588745	NM_020800.3(IFT80):c.259+1G>T	IFT80, TRIM59-IFT80	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588744	NM_020800.3(IFT80):c.339A>G (p.Arg113=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588743	NM_020800.3(IFT80):c.370+2T>G	IFT80, TRIM59-IFT80	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588742	NM_020800.3(IFT80):c.521C>G (p.Pro174Arg)	TRIM59-IFT80, IFT80 (P37R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588741	NM_020800.3(IFT80):c.544_545dup (p.Leu182fs)	IFT80, TRIM59-IFT80 (L182fs +1 more)	Duplication (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588740	NM_020800.3(IFT80):c.549+4C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588739	NM_020800.3(IFT80):c.550-3_550-2del	IFT80, TRIM59-IFT80	Microsatellite (splice acceptor variant)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588738	NM_020800.3(IFT80):c.563A>G (p.Asp188Gly)	IFT80, TRIM59-IFT80 (D188G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588737	NM_020800.3(IFT80):c.577A>G (p.Lys193Glu)	IFT80, TRIM59-IFT80 (K56E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588736	NM_020800.3(IFT80):c.639G>A (p.Lys213=)	TRIM59-IFT80, IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588735	NM_020800.3(IFT80):c.679C>G (p.Pro227Ala)	IFT80, TRIM59-IFT80 (P227A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588733	NM_020800.3(IFT80):c.755dup (p.Leu252fs)	IFT80, TRIM59-IFT80 (L252fs +1 more)	Duplication (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588732	NM_020800.3(IFT80):c.758G>T (p.Arg253Leu)	IFT80, TRIM59-IFT80 (R116L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588731	NM_020800.3(IFT80):c.823A>G (p.Ile275Val)	IFT80, TRIM59-IFT80 (I138V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588730	NM_020800.3(IFT80):c.946A>G (p.Arg316Gly)	IFT80, TRIM59-IFT80 (R179G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588728	NM_020800.3(IFT80):c.1067A>G (p.Tyr356Cys)	IFT80, TRIM59-IFT80 (Y219C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588727	NM_020800.3(IFT80):c.1095del (p.Pro366fs)	IFT80, TRIM59-IFT80 (P366fs +1 more)	Deletion (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588726	NM_020800.3(IFT80):c.1139T>A (p.Leu380Gln)	IFT80, TRIM59-IFT80 (L243Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588725	NM_020800.3(IFT80):c.1144G>A (p.Ala382Thr)	IFT80, TRIM59-IFT80 (A382T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588724	NM_020800.3(IFT80):c.1249C>A (p.Leu417Met)	IFT80, TRIM59-IFT80 (L280M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588723	NM_020800.3(IFT80):c.1333G>A (p.Ala445Thr)	IFT80, TRIM59-IFT80 (A308T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588722	NM_020800.3(IFT80):c.1380+1G>T	IFT80, TRIM59-IFT80	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588721	NM_020800.3(IFT80):c.1889T>C (p.Met630Thr)	IFT80, TRIM59-IFT80 (M493T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588720	NM_020800.3(IFT80):c.1916C>T (p.Ala639Val)	TRIM59-IFT80, IFT80 (A502V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588719	NM_020800.3(IFT80):c.1933A>G (p.Lys645Glu)	IFT80, TRIM59-IFT80 (K508E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588718	NM_020800.3(IFT80):c.1994del (p.Ile665fs)	IFT80, TRIM59-IFT80 (I665fs +1 more)	Deletion (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 3588717	NM_020800.3(IFT80):c.2018A>G (p.Gln673Arg)	IFT80, TRIM59-IFT80 (Q673R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588715	NM_020800.3(IFT80):c.2217A>G (p.Ala739=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3588714	NM_020800.3(IFT80):c.2313G>T (p.Lys771Asn)	IFT80, TRIM59-IFT80 (K771N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3527965	NM_020800.3(IFT80):c.1583G>T (p.Arg528Leu)	IFT80, TRIM59-IFT80 (R391L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 3382757	NM_020800.3(IFT80):c.2066T>A (p.Ile689Asn)	IFT80, TRIM59-IFT80 (I552N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GUncertain significance
Select item 3382756	NM_020800.3(IFT80):c.1022C>A (p.Ser341Tyr)	IFT80, TRIM59-IFT80 (S204Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	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 +1 more	GUncertain significance
Select item 2911142	NM_020800.3(IFT80):c.1689T>A (p.Ile563=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GConflicting classifications of pathogenicity
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 +1 more	GPathogenic/Likely pathogenic
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)	Asphyxiating thoracic dystrophy 2 +2 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)	Asphyxiating thoracic dystrophy 2 +1 more	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 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)	Asphyxiating thoracic dystrophy 2 +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 +1 more	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 +1 more	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)	Asphyxiating thoracic dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 2181200	NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)	TRIM59-IFT80, IFT80 (R358* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GPathogenic/Likely pathogenic
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)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 2075276	NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +2 more	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)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 1652659	NM_020800.3(IFT80):c.371-19T>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1466462	NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter)	IFT80, TRIM59-IFT80 (Q768* +1 more)	Single nucleotide variant (nonsense +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1440350	NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala)	IFT80, TRIM59-IFT80 (T337A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1413580	NM_020800.3(IFT80):c.135T>G (p.Ser45Arg)	IFT80, TRIM59-IFT80 (S45R)	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy +1 more	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 1398961	NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile)	IFT80, TRIM59-IFT80 (T435I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1365682	NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn)	IFT80, TRIM59-IFT80 (D406N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1355885	NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn)	IFT80, TRIM59-IFT80 (T291N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1330851	NM_020800.3(IFT80):c.411dup (p.Met138fs)	IFT80, TRIM59-IFT80 (M138fs +1 more)	Duplication (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1167003	NM_020800.3(IFT80):c.1381-14dup	IFT80, TRIM59-IFT80	Duplication (intron variant)	Asphyxiating thoracic dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1067006	NM_020800.3(IFT80):c.440-2A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 2 +1 more	GLikely pathogenic
Select item 1062392	NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser)	IFT80, TRIM59-IFT80 (P270S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 1055570	NM_020800.3(IFT80):c.64T>C (p.Trp22Arg)	IFT80, TRIM59-IFT80 (W22R)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1026484	NM_020800.3(IFT80):c.131C>A (p.Thr44Asn)	IFT80, TRIM59-IFT80 (T44N)	Single nucleotide variant (non-coding transcript variant +2 more)	Jeune thoracic dystrophy +1 more	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 +2 more	GUncertain significance
Select item 1025611	NM_020800.3(IFT80):c.1936G>T (p.Val646Phe)	IFT80, TRIM59-IFT80 (V509F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1015578	NM_020800.3(IFT80):c.1076+6C>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1009276	NM_020800.3(IFT80):c.377A>C (p.Glu126Ala)	IFT80, TRIM59-IFT80 (E126A)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1002868	NM_020800.3(IFT80):c.659G>A (p.Arg220His)	TRIM59-IFT80, IFT80 (R220H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 1002299	NM_020800.3(IFT80):c.954G>A (p.Met318Ile)	IFT80, TRIM59-IFT80 (M181I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 992480	NM_020800.3(IFT80):c.401C>G (p.Ser134Ter)	IFT80, TRIM59-IFT80 (S134*)	Single nucleotide variant (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 983305	NM_020800.3(IFT80):c.2048G>T (p.Gly683Val)	IFT80, TRIM59-IFT80 (G546V)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2	GLikely pathogenic
Select item 971377	NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys)	TRIM59-IFT80, IFT80 (E362K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 967199	NM_020800.3(IFT80):c.1836+5T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 966898	NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)	IFT80, TRIM59-IFT80	Indel (non-coding transcript variant +2 more)	Asphyxiating thoracic dystrophy 2 +1 more	GUncertain significance
Select item 962387	NM_020800.3(IFT80):c.658C>T (p.Arg220Cys)	IFT80, TRIM59-IFT80 (R220C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 960352	NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)	IFT80, TRIM59-IFT80 (G448V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 960108	NM_020800.3(IFT80):c.2225T>A (p.Leu742His)	IFT80, TRIM59-IFT80 (L605H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 956602	NM_020800.3(IFT80):c.958-1G>T	IFT80, TRIM59-IFT80	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 2 +1 more	GPathogenic/Likely pathogenic
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)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance
Select item 938382	NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)	IFT80, TRIM59-IFT80 (R563S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	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)	Jeune thoracic dystrophy +2 more	GUncertain significance
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 +2 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 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 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 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)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 902125	NM_020800.3(IFT80):c.511A>G (p.Ile171Val)	IFT80, TRIM59-IFT80 (I171V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 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 902123	NM_020800.3(IFT80):c.639+5A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 902122	NM_020800.3(IFT80):c.655G>A (p.Gly219Ser)	TRIM59-IFT80, IFT80 (G219S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +2 more	GUncertain significance

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