USF3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 1279888	NM_001009899.4(USF3):c.*3781C>A	USF3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3331269	NM_001009899.4(USF3):c.6640G>A (p.Ala2214Thr)	USF3 (A2214T)	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 2225661	NM_001009899.4(USF3):c.6525G>T (p.Met2175Ile)	USF3 (M2175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2340828	NM_001009899.4(USF3):c.6390T>G (p.Phe2130Leu)	USF3 (F2130L)	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 2275406	NM_001009899.4(USF3):c.6326C>T (p.Ser2109Phe)	USF3 (S2109F)	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 2394131	NM_001009899.4(USF3):c.6155C>T (p.Ser2052Leu)	USF3 (S2052L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3187040	NM_001009899.4(USF3):c.6116G>C (p.Arg2039Pro)	USF3 (R2039P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218305	NM_001009899.4(USF3):c.6101G>A (p.Arg2034Lys)	USF3 (R2034K)	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 2535477	NM_001009899.4(USF3):c.6076C>T (p.Arg2026Cys)	USF3 (R2026C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331272	NM_001009899.4(USF3):c.6046C>T (p.Leu2016Phe)	USF3 (L2016F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224412	NM_001009899.4(USF3):c.6044C>T (p.Pro2015Leu)	USF3 (P2015L)	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 3331275	NM_001009899.4(USF3):c.5950G>C (p.Asp1984His)	USF3 (D1984H)	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 provided +1 more	GConflicting classifications of pathogenicity
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 3187038	NM_001009899.4(USF3):c.5741A>G (p.Asn1914Ser)	USF3 (N1914S)	Single nucleotide variant (missense variant)	not specified	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 2261309	NM_001009899.4(USF3):c.5597A>G (p.His1866Arg)	USF3 (H1866R)	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 2208423	NM_001009899.4(USF3):c.5419C>T (p.Pro1807Ser)	USF3 (P1807S)	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 2459293	NM_001009899.4(USF3):c.5363G>A (p.Arg1788His)	USF3 (R1788H)	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 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 2591529	NM_001009899.4(USF3):c.5303G>A (p.Arg1768Gln)	USF3 (R1768Q)	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 2654046	NM_001009899.4(USF3):c.5278A>G (p.Ile1760Val)	USF3 (I1760V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2205996	NM_001009899.4(USF3):c.5272A>G (p.Asn1758Asp)	USF3 (N1758D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226060	NM_001009899.4(USF3):c.5249T>C (p.Phe1750Ser)	USF3 (F1750S)	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 2615549	NM_001009899.4(USF3):c.5098A>G (p.Met1700Val)	USF3 (M1700V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331274	NM_001009899.4(USF3):c.4922T>C (p.Val1641Ala)	USF3 (V1641A)	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 2622787	NM_001009899.4(USF3):c.4846G>C (p.Val1616Leu)	USF3 (V1616L)	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 2363998	NM_001009899.4(USF3):c.4675C>A (p.His1559Asn)	USF3 (H1559N)	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 3187033	NM_001009899.4(USF3):c.4642T>C (p.Ser1548Pro)	USF3 (S1548P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2596501	NM_001009899.4(USF3):c.4465T>C (p.Tyr1489His)	USF3 (Y1489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695081	NM_001009899.4(USF3):c.4383GCA[14] (p.Gln1478_Ala1479insGlnGln)	USF3	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1174824	NM_001009899.4(USF3):c.4383GCA[9] (p.Gln1476_Gln1478del)	USF3	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 218482	NM_001009899.4(USF3):c.4383GCA[11] (p.Gln1478del)	USF3 (Q1478del)	Microsatellite (inframe_deletion)	not specified	GLikely benign
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 3331271	NM_001009899.4(USF3):c.4333G>T (p.Val1445Phe)	USF3 (V1445F)	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 3187031	NM_001009899.4(USF3):c.4301C>T (p.Ala1434Val)	USF3 (A1434V)	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 2270496	NM_001009899.4(USF3):c.4250A>G (p.Glu1417Gly)	USF3 (E1417G)	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 2282396	NM_001009899.4(USF3):c.3976G>T (p.Asp1326Tyr)	USF3 (D1326Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217338	NM_001009899.4(USF3):c.3845A>G (p.Tyr1282Cys)	USF3 (Y1282C)	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 2542819	NM_001009899.4(USF3):c.3787A>G (p.Thr1263Ala)	USF3 (T1263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412048	NM_001009899.4(USF3):c.3773C>T (p.Ala1258Val)	USF3 (A1258V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2654047	NM_001009899.4(USF3):c.3762G>A (p.Leu1254=)	USF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2227078	NM_001009899.4(USF3):c.3611C>G (p.Ala1204Gly)	USF3 (A1204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230236	NM_001009899.4(USF3):c.3605T>C (p.Ile1202Thr)	USF3 (I1202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215449	NM_001009899.4(USF3):c.3598G>C (p.Gly1200Arg)	USF3 (G1200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2381348	NM_001009899.4(USF3):c.3552T>A (p.Ser1184Arg)	USF3 (S1184R)	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 2568351	NM_001009899.4(USF3):c.3344A>G (p.Asn1115Ser)	USF3 (N1115S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3187029	NM_001009899.4(USF3):c.3316G>C (p.Glu1106Gln)	USF3 (E1106Q)	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 2508907	NM_001009899.4(USF3):c.3268A>G (p.Thr1090Ala)	USF3 (T1090A)	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 2654048	NM_001009899.4(USF3):c.3252C>T (p.Ala1084=)	USF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3187027	NM_001009899.4(USF3):c.3239A>G (p.Asn1080Ser)	USF3 (N1080S)	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 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 805968	NM_001009899.4(USF3):c.3047dup (p.Asn1016fs)	USF3 (N1016fs)	Duplication (frameshift variant)	CIC-rearranged sarcoma	Gnot provided
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 2256040	NM_001009899.4(USF3):c.2971G>C (p.Asp991His)	USF3 (D991H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209907	NM_001009899.4(USF3):c.2872G>T (p.Val958Phe)	USF3 (V958F)	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

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