ClinVar for Gene (Select 205717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187042	NM_001009899.4(USF3):c.830A>G (p.Asp277Gly)	USF3 (D277G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187041	NM_001009899.4(USF3):c.757A>G (p.Ser253Gly)	USF3 (S253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187040	NM_001009899.4(USF3):c.6116G>C (p.Arg2039Pro)	USF3 (R2039P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187039	NM_001009899.4(USF3):c.6098A>G (p.Lys2033Arg)	USF3 (K2033R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187038	NM_001009899.4(USF3):c.5741A>G (p.Asn1914Ser)	USF3 (N1914S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187037	NM_001009899.4(USF3):c.5404A>G (p.Thr1802Ala)	USF3 (T1802A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187035	NM_001009899.4(USF3):c.5327G>A (p.Arg1776Gln)	USF3 (R1776Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187034	NM_001009899.4(USF3):c.4864T>A (p.Ser1622Thr)	USF3 (S1622T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187033	NM_001009899.4(USF3):c.4642T>C (p.Ser1548Pro)	USF3 (S1548P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187031	NM_001009899.4(USF3):c.4301C>T (p.Ala1434Val)	USF3 (A1434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187030	NM_001009899.4(USF3):c.3688A>G (p.Thr1230Ala)	USF3 (T1230A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187029	NM_001009899.4(USF3):c.3316G>C (p.Glu1106Gln)	USF3 (E1106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187028	NM_001009899.4(USF3):c.3262A>G (p.Met1088Val)	USF3 (M1088V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187027	NM_001009899.4(USF3):c.3239A>G (p.Asn1080Ser)	USF3 (N1080S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187026	NM_001009899.4(USF3):c.306A>T (p.Glu102Asp)	USF3 (E102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187025	NM_001009899.4(USF3):c.2642C>T (p.Ser881Leu)	USF3 (S881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187024	NM_001009899.4(USF3):c.2336C>A (p.Ser779Tyr)	USF3 (S779Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187023	NM_001009899.4(USF3):c.1432A>G (p.Ile478Val)	USF3 (I478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187022	NM_001009899.4(USF3):c.1138G>A (p.Gly380Arg)	USF3 (G380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2681636	NM_001009899.4(USF3):c.5717T>C (p.Ile1906Thr)	USF3 (I1906T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2654048	NM_001009899.4(USF3):c.3252C>T (p.Ala1084=)	USF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654047	NM_001009899.4(USF3):c.3762G>A (p.Leu1254=)	USF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654046	NM_001009899.4(USF3):c.5278A>G (p.Ile1760Val)	USF3 (I1760V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654045	NM_001009899.4(USF3):c.5310G>A (p.Met1770Ile)	USF3 (M1770I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2622787	NM_001009899.4(USF3):c.4846G>C (p.Val1616Leu)	USF3 (V1616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615549	NM_001009899.4(USF3):c.5098A>G (p.Met1700Val)	USF3 (M1700V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599551	NM_001009899.4(USF3):c.2620T>A (p.Ser874Thr)	USF3 (S874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596501	NM_001009899.4(USF3):c.4465T>C (p.Tyr1489His)	USF3 (Y1489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593334	NM_001009899.4(USF3):c.2210C>T (p.Ser737Phe)	USF3 (S737F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592819	NM_001009899.4(USF3):c.4327C>G (p.Gln1443Glu)	USF3 (Q1443E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591643	NM_001009899.4(USF3):c.926C>T (p.Ala309Val)	USF3 (A309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591529	NM_001009899.4(USF3):c.5303G>A (p.Arg1768Gln)	USF3 (R1768Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589193	NM_001009899.4(USF3):c.622C>T (p.Pro208Ser)	USF3 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2569316	NM_001009899.4(USF3):c.1715C>A (p.Ser572Tyr)	USF3 (S572Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568351	NM_001009899.4(USF3):c.3344A>G (p.Asn1115Ser)	USF3 (N1115S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556904	NM_001009899.4(USF3):c.787T>C (p.Ser263Pro)	USF3 (S263P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556407	NM_001009899.4(USF3):c.4529A>G (p.His1510Arg)	USF3 (H1510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551899	NM_001009899.4(USF3):c.5558C>T (p.Ala1853Val)	USF3 (A1853V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544024	NM_001009899.4(USF3):c.5167C>T (p.His1723Tyr)	USF3 (H1723Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542819	NM_001009899.4(USF3):c.3787A>G (p.Thr1263Ala)	USF3 (T1263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541338	NM_001009899.4(USF3):c.985G>A (p.Gly329Ser)	USF3 (G329S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538295	NM_001009899.4(USF3):c.6400A>G (p.Met2134Val)	USF3 (M2134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535477	NM_001009899.4(USF3):c.6076C>T (p.Arg2026Cys)	USF3 (R2026C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533045	NM_001009899.4(USF3):c.294A>C (p.Glu98Asp)	USF3 (E98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527914	NM_001009899.4(USF3):c.772G>T (p.Ala258Ser)	USF3 (A258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526796	NM_001009899.4(USF3):c.1202C>T (p.Ser401Phe)	USF3 (S401F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521333	NM_001009899.4(USF3):c.746T>G (p.Leu249Arg)	USF3 (L249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509717	NM_001009899.4(USF3):c.4646G>A (p.Arg1549Gln)	USF3 (R1549Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508907	NM_001009899.4(USF3):c.3268A>G (p.Thr1090Ala)	USF3 (T1090A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2491085	NM_001009899.4(USF3):c.3569A>G (p.Glu1190Gly)	USF3 (E1190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477616	NM_001009899.4(USF3):c.1257C>G (p.Ser419Arg)	USF3 (S419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466777	NM_001009899.4(USF3):c.5972G>A (p.Arg1991His)	USF3 (R1991H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463326	NM_001009899.4(USF3):c.1172G>A (p.Gly391Glu)	USF3 (G391E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462881	NM_001009899.4(USF3):c.3118G>T (p.Asp1040Tyr)	USF3 (D1040Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2459293	NM_001009899.4(USF3):c.5363G>A (p.Arg1788His)	USF3 (R1788H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423902	NC_000003.11:g.(?_113010404)_(114099634_?)del	ATP6V1A, CCDC191 +12 more	Deletion	not provided	GPathogenic
Select item 2412048	NM_001009899.4(USF3):c.3773C>T (p.Ala1258Val)	USF3 (A1258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403887	NM_001009899.4(USF3):c.1807C>G (p.Arg603Gly)	USF3 (R603G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403611	NM_001009899.4(USF3):c.277C>T (p.Arg93Trp)	USF3 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397634	NM_001009899.4(USF3):c.5902C>T (p.Arg1968Cys)	USF3 (R1968C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2395087	NM_001009899.4(USF3):c.6120C>A (p.Phe2040Leu)	USF3 (F2040L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394131	NM_001009899.4(USF3):c.6155C>T (p.Ser2052Leu)	USF3 (S2052L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391695	NM_001009899.4(USF3):c.6638T>C (p.Ile2213Thr)	USF3 (I2213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384430	NM_001009899.4(USF3):c.314G>A (p.Arg105Gln)	USF3 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381348	NM_001009899.4(USF3):c.3552T>A (p.Ser1184Arg)	USF3 (S1184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375133	NM_001009899.4(USF3):c.3839G>A (p.Ser1280Asn)	USF3 (S1280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374459	NM_001009899.4(USF3):c.50A>G (p.Lys17Arg)	USF3 (K17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368997	NM_001009899.4(USF3):c.1939A>C (p.Asn647His)	USF3 (N647H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363998	NM_001009899.4(USF3):c.4675C>A (p.His1559Asn)	USF3 (H1559N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363905	NM_001009899.4(USF3):c.4798A>G (p.Ile1600Val)	USF3 (I1600V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361652	NM_001009899.4(USF3):c.3208G>A (p.Asp1070Asn)	USF3 (D1070N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360087	NM_001009899.4(USF3):c.3287G>A (p.Arg1096His)	USF3 (R1096H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359872	NM_001009899.4(USF3):c.2662A>G (p.Lys888Glu)	USF3 (K888E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354720	NM_001009899.4(USF3):c.457G>A (p.Gly153Arg)	USF3 (G153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347162	NM_001009899.4(USF3):c.4370A>T (p.His1457Leu)	USF3 (H1457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343031	NM_001009899.4(USF3):c.3322A>G (p.Thr1108Ala)	USF3 (T1108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340828	NM_001009899.4(USF3):c.6390T>G (p.Phe2130Leu)	USF3 (F2130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332588	NM_001009899.4(USF3):c.5762A>G (p.Asn1921Ser)	USF3 (N1921S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318502	NM_001009899.4(USF3):c.4257G>T (p.Gln1419His)	USF3 (Q1419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317723	NM_001009899.4(USF3):c.4093G>T (p.Asp1365Tyr)	USF3 (D1365Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310710	NM_001009899.4(USF3):c.6358A>G (p.Thr2120Ala)	USF3 (T2120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310666	NM_001009899.4(USF3):c.5279T>G (p.Ile1760Arg)	USF3 (I1760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295021	NM_001009899.4(USF3):c.2977A>G (p.Met993Val)	USF3 (M993V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292978	NM_001009899.4(USF3):c.3377T>C (p.Phe1126Ser)	USF3 (F1126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283627	NM_001009899.4(USF3):c.2377A>G (p.Lys793Glu)	USF3 (K793E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282396	NM_001009899.4(USF3):c.3976G>T (p.Asp1326Tyr)	USF3 (D1326Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275406	NM_001009899.4(USF3):c.6326C>T (p.Ser2109Phe)	USF3 (S2109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271730	NM_001009899.4(USF3):c.2048C>T (p.Thr683Ile)	USF3 (T683I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270496	NM_001009899.4(USF3):c.4250A>G (p.Glu1417Gly)	USF3 (E1417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270431	NM_001009899.4(USF3):c.6179C>T (p.Ser2060Leu)	USF3 (S2060L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263717	NM_001009899.4(USF3):c.2710A>G (p.Met904Val)	USF3 (M904V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261309	NM_001009899.4(USF3):c.5597A>G (p.His1866Arg)	USF3 (H1866R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256040	NM_001009899.4(USF3):c.2971G>C (p.Asp991His)	USF3 (D991H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252211	NM_001009899.4(USF3):c.3250G>A (p.Ala1084Thr)	USF3 (A1084T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244081	NM_001009899.4(USF3):c.1405A>G (p.Asn469Asp)	USF3 (N469D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242231	NM_001009899.4(USF3):c.2294G>A (p.Ser765Asn)	USF3 (S765N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241503	NM_001009899.4(USF3):c.1919C>T (p.Pro640Leu)	USF3 (P640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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