57560[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
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 343952	NM_020800.3(IFT80):c.*1210TA[8]	IFT80, TRIM59-IFT80	Microsatellite (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	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 2015424	NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser)	IFT80, TRIM59-IFT80 (P777S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
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 1983149	NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr)	IFT80, TRIM59-IFT80 (I773T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 283927	NM_020800.3(IFT80):c.2307C>T (p.Ser769=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +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 (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1057269	NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr)	IFT80, TRIM59-IFT80 (S629T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1622421	NM_020800.3(IFT80):c.2292A>G (p.Ser764=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
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 1094664	NM_020800.3(IFT80):c.2286G>A (p.Glu762=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 1385614	NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr)	IFT80, TRIM59-IFT80 (R624T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 956555	NM_020800.3(IFT80):c.2245A>G (p.Ile749Val)	IFT80, TRIM59-IFT80 (I612V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1402238	NM_020800.3(IFT80):c.2244A>T (p.Lys748Asn)	IFT80, TRIM59-IFT80 (K748N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1105799	NM_020800.3(IFT80):c.2244A>G (p.Lys748=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2194634	NM_020800.3(IFT80):c.2224-7A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1164287	NM_020800.3(IFT80):c.2224-19_2224-18dup	IFT80, TRIM59-IFT80	Duplication (intron variant)	Jeune thoracic dystrophy	GBenign
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 215529	NM_020800.3(IFT80):c.2224-10dup	IFT80, TRIM59-IFT80	Duplication (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1590050	NM_020800.3(IFT80):c.2224-13_2224-10del	IFT80, TRIM59-IFT80	Deletion (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 215528	NM_020800.3(IFT80):c.2224-10del	IFT80, TRIM59-IFT80	Deletion (intron variant)	not provided +1 more	GBenign/Likely 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 1564599	NM_020800.3(IFT80):c.2224-18T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1595599	NM_020800.3(IFT80):c.2224-20dup	IFT80, TRIM59-IFT80	Duplication (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1613916	NM_020800.3(IFT80):c.2223+20G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2147723	NM_020800.3(IFT80):c.2223+15A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2099444	NM_020800.3(IFT80):c.2223+11C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 528894	NM_020800.3(IFT80):c.2223+4_2223+7del	IFT80, TRIM59-IFT80	Deletion (splice donor variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 1460991	NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr)	IFT80, TRIM59-IFT80 (A739T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
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 439813	NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter)	TRIM59-IFT80, IFT80 (R734* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 645274	NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser)	IFT80, TRIM59-IFT80 (G590S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1023863	NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile)	IFT80, TRIM59-IFT80 (T588I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 501586	NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys)	IFT80, TRIM59-IFT80 (Q720K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 702122	NM_020800.3(IFT80):c.2156G>A (p.Arg719His)	TRIM59-IFT80, IFT80 (R582H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1382590	NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys)	IFT80, TRIM59-IFT80 (R719C +1 more)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 700539	NM_020800.3(IFT80):c.2151T>A (p.Ala717=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 220910	NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr)	IFT80, TRIM59-IFT80 (A717T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 698032	NM_020800.3(IFT80):c.2142A>T (p.Thr714=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 695284	NM_020800.3(IFT80):c.2139T>C (p.Asp713=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GBenign
Select item 1007171	NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly)	IFT80, TRIM59-IFT80 (D576G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2135954	NM_020800.3(IFT80):c.2132A>G (p.His711Arg)	IFT80, TRIM59-IFT80 (H574R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	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 2098812	NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)	IFT80, TRIM59-IFT80 (K707* +1 more)	Single nucleotide variant (nonsense +1 more)	Jeune thoracic dystrophy	GPathogenic
Select item 843904	NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)	IFT80, TRIM59-IFT80 (V706I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2144560	NM_020800.3(IFT80):c.2103A>G (p.Ala701=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign
Select item 991	NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)	IFT80, TRIM59-IFT80 (A701P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 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	GUncertain significance
Select item 2020027	NM_020800.3(IFT80):c.2100-13T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2068557	NM_020800.3(IFT80):c.2100-17T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1237322	NM_020800.3(IFT80):c.2099+149A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610770	NM_020800.3(IFT80):c.2099+19A>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 697464	NM_020800.3(IFT80):c.2099+10A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 696240	NM_020800.3(IFT80):c.2099+4A>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 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 1469726	NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys)	IFT80, TRIM59-IFT80 (W561C +1 more)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 2009948	NM_020800.3(IFT80):c.2086T>C (p.Tyr696His)	IFT80, TRIM59-IFT80 (Y559H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
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 1982589	NM_020800.3(IFT80):c.2085del (p.Tyr696fs)	IFT80, TRIM59-IFT80 (Y559fs +1 more)	Deletion (non-coding transcript variant +1 more)	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 1598208	NM_020800.3(IFT80):c.2073C>A (p.Ile691=)	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GLikely benign

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