ClinVar for Gene (Select 54617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357480	NM_017553.3(INO80):c.114G>A (p.Thr38=)	INO80	Single nucleotide variant (synonymous variant +1 more)	INO80-related disorder	GLikely benign
Select item 3356941	NM_017553.3(INO80):c.2399A>C (p.Asn800Thr)	INO80 (N800T)	Single nucleotide variant (missense variant +1 more)	INO80-related disorder	GUncertain significance
Select item 3286046	NM_017553.3(INO80):c.2251G>A (p.Val751Met)	INO80 (V751M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286044	NM_017553.3(INO80):c.2552G>A (p.Arg851Lys)	INO80 (R851K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286043	NM_017553.3(INO80):c.4057A>G (p.Met1353Val)	INO80 (M1353V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286042	NM_017553.3(INO80):c.3231G>C (p.Trp1077Cys)	INO80, INO80-AS1 (W1077C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286041	NM_017553.3(INO80):c.4219G>A (p.Val1407Ile)	INO80 (V1407I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286040	NM_017553.3(INO80):c.1458G>T (p.Lys486Asn)	INO80 (K486N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286039	NM_017553.3(INO80):c.2971C>T (p.Arg991Trp)	INO80, INO80-AS1 (R991W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3286038	NM_017553.3(INO80):c.758A>G (p.Lys253Arg)	INO80 (K253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3109747	NM_017553.3(INO80):c.995C>A (p.Thr332Asn)	INO80 (T332N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109746	NM_017553.3(INO80):c.740A>T (p.Gln247Leu)	INO80 (Q247L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109745	NM_017553.3(INO80):c.725G>A (p.Arg242His)	INO80 (R242H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109744	NM_017553.3(INO80):c.4278C>G (p.His1426Gln)	INO80 (H1426Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109743	NM_017553.3(INO80):c.3435G>A (p.Met1145Ile)	INO80 (M1145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109742	NM_017553.3(INO80):c.3326T>G (p.Leu1109Arg)	INO80 (L1109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109741	NM_017553.3(INO80):c.1445G>A (p.Arg482Gln)	INO80 (R482Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109740	NM_017553.3(INO80):c.1418C>G (p.Ala473Gly)	INO80 (A473G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109739	NM_017553.3(INO80):c.1364C>T (p.Ala455Val)	INO80 (A455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109738	NM_017553.3(INO80):c.106C>G (p.Arg36Gly)	INO80 (R36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3057570	NM_017553.3(INO80):c.3462G>A (p.Ser1154=)	INO80	Single nucleotide variant (synonymous variant +1 more)	INO80-related disorder	GLikely benign
Select item 3057313	NM_017553.3(INO80):c.4601C>T (p.Thr1534Ile)	INO80 (T1534I)	Single nucleotide variant (missense variant +1 more)	INO80-related disorder	GLikely benign
Select item 3048948	NM_017553.3(INO80):c.4218C>T (p.Ser1406=)	INO80	Single nucleotide variant (synonymous variant +1 more)	INO80-related disorder	GLikely benign
Select item 3047429	NM_017553.3(INO80):c.4383A>G (p.Ala1461=)	INO80	Single nucleotide variant (synonymous variant +1 more)	INO80-related disorder	GLikely benign
Select item 3043962	NM_017553.3(INO80):c.928-14GTT[2]	INO80	Microsatellite (intron variant)	INO80-related disorder	GLikely benign
Select item 3039481	NM_017553.3(INO80):c.2037A>G (p.Leu679=)	INO80	Single nucleotide variant (synonymous variant +1 more)	INO80-related disorder	GLikely benign
Select item 3036030	NM_017553.3(INO80):c.3995C>T (p.Ser1332Leu)	INO80 (S1332L)	Single nucleotide variant (missense variant +1 more)	INO80-related disorder	GLikely benign
Select item 3033466	NM_017553.3(INO80):c.3027T>C (p.Phe1009=)	INO80, INO80-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	INO80-related disorder	GLikely benign
Select item 3033113	NM_017553.3(INO80):c.1396-8C>A	INO80	Single nucleotide variant (intron variant)	INO80-related disorder	GLikely benign
Select item 3029135	NM_017553.3(INO80):c.57C>G (p.Pro19=)	INO80	Single nucleotide variant (synonymous variant +1 more)	INO80-related disorder	GLikely benign
Select item 2689248	NM_017553.3(INO80):c.1724C>T (p.Pro575Leu)	INO80 (P575L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688291	NM_017553.3(INO80):c.3833-109A>C	INO80	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688243	NM_017553.3(INO80):c.2071-96C>T	INO80	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688187	NM_017553.3(INO80):c.4453+46A>C	INO80	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688066	NM_017553.3(INO80):c.3274+34G>C	INO80, INO80-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688065	NM_017553.3(INO80):c.4078-39C>T	INO80	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687940	NM_017553.3(INO80):c.2274+35A>G	INO80	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2634316	NM_017553.3(INO80):c.4429G>A (p.Ala1477Thr)	INO80 (A1477T)	Single nucleotide variant (missense variant +1 more)	INO80-related disorder	GUncertain significance
Select item 2631493	NM_017553.3(INO80):c.4291C>T (p.Arg1431Ter)	INO80 (R1431*)	Single nucleotide variant (nonsense +1 more)	INO80-related disorder	GUncertain significance
Select item 2629038	NM_017553.3(INO80):c.3815A>G (p.Glu1272Gly)	INO80 (E1272G)	Single nucleotide variant (missense variant +1 more)	INO80-related disorder	GUncertain significance
Select item 2628854	NM_017553.3(INO80):c.2716C>G (p.Leu906Val)	INO80 (L906V)	Single nucleotide variant (missense variant +1 more)	INO80-related disorder	GUncertain significance
Select item 2622401	NM_017553.3(INO80):c.3902G>A (p.Arg1301Gln)	INO80 (R1301Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622292	NM_017553.3(INO80):c.1394G>A (p.Arg465Gln)	INO80 (R465Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619462	NM_017553.3(INO80):c.626A>G (p.Lys209Arg)	INO80 (K209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612887	NM_017553.3(INO80):c.2587G>T (p.Val863Phe)	INO80 (V863F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568895	NM_017553.3(INO80):c.4343G>A (p.Arg1448Gln)	INO80 (R1448Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554071	NM_017553.3(INO80):c.4501G>A (p.Gly1501Ser)	INO80 (G1501S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543921	NM_017553.3(INO80):c.2686A>G (p.Ile896Val)	INO80 (I896V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2542683	NM_017553.3(INO80):c.2545C>A (p.Gln849Lys)	INO80 (Q849K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540572	NM_017553.3(INO80):c.1682C>G (p.Ala561Gly)	INO80 (A561G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533366	NM_017553.3(INO80):c.2575A>T (p.Arg859Trp)	INO80 (R859W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517391	NM_017553.3(INO80):c.4577G>A (p.Gly1526Glu)	INO80 (G1526E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513830	NM_017553.3(INO80):c.3271C>G (p.Pro1091Ala)	INO80, INO80-AS1 (P1091A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511682	NM_017553.3(INO80):c.290C>T (p.Ser97Phe)	INO80 (S97F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486273	NM_017553.3(INO80):c.2572G>C (p.Asp858His)	INO80 (D858H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481194	NM_017553.3(INO80):c.2529T>G (p.Phe843Leu)	INO80 (F843L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476090	NM_017553.3(INO80):c.4493G>A (p.Arg1498Gln)	INO80 (R1498Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472340	NM_017553.3(INO80):c.833G>A (p.Arg278Lys)	INO80 (R278K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428545	NM_017553.3(INO80):c.2644A>G (p.Ile882Val)	INO80 (I882V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2428538	NM_017553.3(INO80):c.3323T>G (p.Val1108Gly)	INO80 (V1108G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2404205	NM_017553.3(INO80):c.3007C>T (p.Leu1003Phe)	INO80, INO80-AS1 (L1003F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396727	NM_017553.3(INO80):c.305T>G (p.Leu102Arg)	INO80 (L102R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379054	NM_017553.3(INO80):c.3980T>C (p.Ile1327Thr)	INO80 (I1327T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377344	NM_017553.3(INO80):c.28G>C (p.Asp10His)	INO80 (D10H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377277	NM_017553.3(INO80):c.934C>T (p.His312Tyr)	INO80 (H312Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376823	NM_017553.3(INO80):c.4554G>C (p.Leu1518Phe)	INO80 (L1518F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375765	NM_017553.3(INO80):c.3967G>A (p.Val1323Met)	INO80 (V1323M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371071	NM_017553.3(INO80):c.2990C>T (p.Ser997Leu)	INO80, INO80-AS1 (S997L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2365191	NM_017553.3(INO80):c.2555T>C (p.Val852Ala)	INO80 (V852A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353519	NM_017553.3(INO80):c.3085C>G (p.Arg1029Gly)	INO80-AS1, INO80 (R1029G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2348939	NM_017553.3(INO80):c.4531T>A (p.Ser1511Thr)	INO80 (S1511T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336102	NM_017553.3(INO80):c.4294G>C (p.Gly1432Arg)	INO80 (G1432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327913	NM_017553.3(INO80):c.3856C>G (p.Arg1286Gly)	INO80 (R1286G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324469	NM_017553.3(INO80):c.2958G>C (p.Gln986His)	INO80, INO80-AS1 (Q986H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323981	NM_017553.3(INO80):c.4010A>G (p.Asn1337Ser)	INO80 (N1337S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315202	NM_017553.3(INO80):c.985T>G (p.Cys329Gly)	INO80 (C329G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290395	NM_017553.3(INO80):c.1283A>G (p.Asp428Gly)	INO80 (D428G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281301	NM_017553.3(INO80):c.2605C>A (p.Pro869Thr)	INO80 (P869T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276935	NM_017553.3(INO80):c.3205T>C (p.Phe1069Leu)	INO80, INO80-AS1 (F1069L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252627	NM_017553.3(INO80):c.301G>A (p.Val101Ile)	INO80 (V101I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252063	NM_017553.3(INO80):c.4495C>G (p.Pro1499Ala)	INO80 (P1499A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249335	NM_017553.3(INO80):c.4604G>T (p.Ser1535Ile)	INO80 (S1535I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243654	NM_017553.3(INO80):c.3964G>A (p.Gly1322Ser)	INO80 (G1322S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218455	NM_017553.3(INO80):c.1391C>G (p.Ala464Gly)	INO80 (A464G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208489	NM_017553.3(INO80):c.3038C>G (p.Ala1013Gly)	INO80, INO80-AS1 (A1013G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208112	NM_017553.3(INO80):c.2586G>T (p.Arg862Ser)	INO80 (R862S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526445	GRCh37/hg19 15q15.1(chr15:41194121-41452728)	CHAC1, DLL4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1330753	NM_017553.3(INO80):c.2577-17A>T	INO80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284900	NM_017553.3(INO80):c.57C>T (p.Pro19=)	INO80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1184374	NM_017553.3(INO80):c.4018G>C (p.Ala1340Pro)	INO80 (A1340P)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 1175064	NM_017553.3(INO80):c.1444C>T (p.Arg482Trp)	INO80 (R482W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 995710	NM_017553.3(INO80):c.4162G>C (p.Ala1388Pro)	INO80 (A1388P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 994175	NM_017553.3(INO80):c.432C>T (p.Asp144=)	INO80	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 993389	NM_017553.3(INO80):c.2070+12T>A	INO80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 797495	NM_017553.3(INO80):c.399T>C (p.Asp133=)	INO80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 788584	NM_017553.3(INO80):c.2784G>A (p.Gln928=)	INO80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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