Related gene-specific medical variations for Gene (Select 100174949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182633	NM_173084.3(TRIM59):c.926C>T (p.Pro309Leu)	TRIM59, TRIM59-IFT80 (P309L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182632	NM_173084.3(TRIM59):c.829A>G (p.Ile277Val)	TRIM59, TRIM59-IFT80 (I277V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182631	NM_173084.3(TRIM59):c.514T>G (p.Ser172Ala)	TRIM59, TRIM59-IFT80 (S172A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182630	NM_173084.3(TRIM59):c.482C>A (p.Thr161Asn)	TRIM59, TRIM59-IFT80 (T161N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182629	NM_173084.3(TRIM59):c.470G>T (p.Trp157Leu)	TRIM59, TRIM59-IFT80 (W157L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182628	NM_173084.3(TRIM59):c.325T>C (p.Cys109Arg)	TRIM59, TRIM59-IFT80 (C109R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182627	NM_173084.3(TRIM59):c.1208A>G (p.His403Arg)	TRIM59, TRIM59-IFT80 (H403R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182626	NM_173084.3(TRIM59):c.1171T>A (p.Tyr391Asn)	TRIM59, TRIM59-IFT80 (Y391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166387	NM_001002800.3(SMC4):c.3655G>A (p.Asp1219Asn)	SMC4, TRIM59-IFT80 (D1194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166386	NM_001002800.3(SMC4):c.3280G>A (p.Ala1094Thr)	LOC126806863, SMC4 +1 more (A1069T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166385	NM_001002800.3(SMC4):c.29C>T (p.Thr10Ile)	SMC4, TRIM59-IFT80 (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166384	NM_001002800.3(SMC4):c.2656C>T (p.Arg886Cys)	SMC4, TRIM59-IFT80 (R861C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166383	NM_001002800.3(SMC4):c.2423G>A (p.Arg808Gln)	SMC4, TRIM59-IFT80 (R783Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166381	NM_001002800.3(SMC4):c.2008G>T (p.Gly670Cys)	SMC4, TRIM59-IFT80 (G670C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166380	NM_001002800.3(SMC4):c.1952C>T (p.Ala651Val)	SMC4, TRIM59-IFT80 (A626V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166379	NM_001002800.3(SMC4):c.1718A>G (p.Lys573Arg)	SMC4, TRIM59-IFT80 (K548R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166378	NM_001002800.3(SMC4):c.1483G>A (p.Ala495Thr)	SMC4, TRIM59-IFT80 (A470T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166377	NM_001002800.3(SMC4):c.1292T>C (p.Ile431Thr)	SMC4, TRIM59-IFT80 (I431T +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 condition	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 (synonymous 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=)	TRIM59-IFT80, 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)	Jeune thoracic dystrophy	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 2654258	NM_001002800.3(SMC4):c.2817C>T (p.Asp939=)	SMC4, TRIM59-IFT80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619889	NM_001002800.3(SMC4):c.2444G>A (p.Arg815Lys)	SMC4, TRIM59-IFT80 (R815K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617310	NM_001002800.3(SMC4):c.590A>G (p.Tyr197Cys)	SMC4, TRIM59-IFT80 (Y172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614577	NM_173084.3(TRIM59):c.1084A>G (p.Ile362Val)	TRIM59, TRIM59-IFT80 (I362V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2612824	NM_001002800.3(SMC4):c.3258G>A (p.Met1086Ile)	LOC126806863, SMC4 +1 more (M1061I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612823	NM_001002800.3(SMC4):c.2861A>G (p.Glu954Gly)	SMC4, TRIM59-IFT80 (E929G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610873	NM_001002800.3(SMC4):c.814C>T (p.Arg272Trp)	SMC4, TRIM59-IFT80 (R247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608448	NM_001002800.3(SMC4):c.1000A>G (p.Ile334Val)	SMC4, TRIM59-IFT80 (I309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604218	NM_001002800.3(SMC4):c.3181G>C (p.Glu1061Gln)	LOC126806863, SMC4 +1 more (E1061Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604125	NM_173084.3(TRIM59):c.643A>T (p.Asn215Tyr)	TRIM59, TRIM59-IFT80 (N215Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600758	NM_001002800.3(SMC4):c.1807A>G (p.Ile603Val)	SMC4, TRIM59-IFT80 (I603V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599126	NM_001002800.3(SMC4):c.1487G>T (p.Arg496Leu)	SMC4, TRIM59-IFT80 (R496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588778	NM_173084.3(TRIM59):c.29G>A (p.Cys10Tyr)	TRIM59, TRIM59-IFT80 (C10Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568863	NM_001002800.3(SMC4):c.3245G>A (p.Arg1082Gln)	LOC126806863, SMC4 +1 more (R1082Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558632	NM_001002800.3(SMC4):c.971A>G (p.Gln324Arg)	SMC4, TRIM59-IFT80 (Q324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556419	NM_001002800.3(SMC4):c.58C>T (p.Pro20Ser)	SMC4, TRIM59-IFT80 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555883	NM_173084.3(TRIM59):c.614C>T (p.Thr205Met)	TRIM59, TRIM59-IFT80 (T205M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2540786	NM_001002800.3(SMC4):c.1222A>G (p.Thr408Ala)	SMC4, TRIM59-IFT80 (T408A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538337	NM_001002800.3(SMC4):c.1748T>C (p.Val583Ala)	SMC4, TRIM59-IFT80 (V558A +1 more)	Single nucleotide variant (missense variant)	not specified	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 2536384	NM_001002800.3(SMC4):c.950G>C (p.Arg317Thr)	SMC4, TRIM59-IFT80 (R317T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531497	NM_173084.3(TRIM59):c.1015T>C (p.Ser339Pro)	TRIM59, TRIM59-IFT80 (S339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526397	NM_173084.3(TRIM59):c.930A>T (p.Lys310Asn)	TRIM59, TRIM59-IFT80 (K310N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520113	NM_173084.3(TRIM59):c.1189G>A (p.Val397Met)	TRIM59, TRIM59-IFT80 (V397M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512554	NM_173084.3(TRIM59):c.405A>C (p.Gln135His)	TRIM59, TRIM59-IFT80 (Q135H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2508576	NM_173084.3(TRIM59):c.541G>T (p.Asp181Tyr)	TRIM59, TRIM59-IFT80 (D181Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2496490	NM_173084.3(TRIM59):c.983A>G (p.Lys328Arg)	TRIM59, TRIM59-IFT80 (K328R)	Single nucleotide variant (missense variant)	not specified	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 2485802	NM_173084.3(TRIM59):c.614C>A (p.Thr205Lys)	TRIM59, TRIM59-IFT80 (T205K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 2485107	NM_173084.3(TRIM59):c.325T>G (p.Cys109Gly)	TRIM59, TRIM59-IFT80 (C109G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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