ClinVar for Gene (Select 2975) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283096	NM_001520.4(GTF3C1):c.1437C>G (p.Asp479Glu)	GTF3C1 (D479E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283095	NM_001520.4(GTF3C1):c.5242G>A (p.Ala1748Thr)	GTF3C1 (A1748T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283094	NM_001520.4(GTF3C1):c.3063C>G (p.Phe1021Leu)	GTF3C1 (F1021L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283093	NM_001520.4(GTF3C1):c.5525G>C (p.Ser1842Thr)	GTF3C1 (S1842T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283092	NM_001520.4(GTF3C1):c.3734G>A (p.Arg1245His)	GTF3C1 (R1245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283091	NM_001520.4(GTF3C1):c.5890G>A (p.Gly1964Arg)	GTF3C1 (G1939R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283090	NM_001520.4(GTF3C1):c.4042G>C (p.Gly1348Arg)	GTF3C1 (G1348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283089	NM_001520.4(GTF3C1):c.6183C>G (p.Phe2061Leu)	GTF3C1 (F2061L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283088	NM_001520.4(GTF3C1):c.2324C>T (p.Pro775Leu)	GTF3C1 (P775L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283087	NM_001520.4(GTF3C1):c.5445C>A (p.His1815Gln)	GTF3C1 (H1815Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283086	NM_001520.4(GTF3C1):c.5690T>A (p.Leu1897His)	GTF3C1 (L1897H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283084	NM_001520.4(GTF3C1):c.1513C>T (p.Arg505Trp)	GTF3C1 (R505W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283083	NM_001520.4(GTF3C1):c.3632G>C (p.Gly1211Ala)	GTF3C1 (G1211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283082	NM_001520.4(GTF3C1):c.3170G>A (p.Arg1057His)	GTF3C1 (R1057H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283081	NM_001520.4(GTF3C1):c.344G>A (p.Arg115His)	GTF3C1 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283080	NM_001520.4(GTF3C1):c.4913C>T (p.Ala1638Val)	GTF3C1 (A1638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283079	NM_001520.4(GTF3C1):c.330C>G (p.Ile110Met)	GTF3C1 (I110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283078	NM_001520.4(GTF3C1):c.5708A>T (p.Asp1903Val)	GTF3C1 (D1903V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103147	NM_001520.4(GTF3C1):c.68C>G (p.Ala23Gly)	GTF3C1, LOC130058717 (A23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103146	NM_001520.4(GTF3C1):c.6067C>T (p.Arg2023Cys)	GTF3C1 (R2023C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103145	NM_001520.4(GTF3C1):c.5917C>T (p.Arg1973Trp)	GTF3C1 (R1948W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103144	NM_001520.4(GTF3C1):c.5660C>T (p.Ala1887Val)	GTF3C1 (A1887V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103143	NM_001520.4(GTF3C1):c.5573G>A (p.Arg1858Gln)	GTF3C1 (R1858Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103142	NM_001520.4(GTF3C1):c.5416A>G (p.Met1806Val)	GTF3C1 (M1806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103141	NM_001520.4(GTF3C1):c.5348G>A (p.Cys1783Tyr)	GTF3C1 (C1783Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103140	NM_001520.4(GTF3C1):c.5294G>A (p.Arg1765Gln)	GTF3C1 (R1765Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103139	NM_001520.4(GTF3C1):c.5245A>G (p.Ile1749Val)	GTF3C1 (I1749V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103138	NM_001520.4(GTF3C1):c.5152A>G (p.Asn1718Asp)	GTF3C1 (N1718D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103136	NM_001520.4(GTF3C1):c.5002A>C (p.Ile1668Leu)	GTF3C1 (I1668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103135	NM_001520.4(GTF3C1):c.4582G>A (p.Asp1528Asn)	GTF3C1 (D1528N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103134	NM_001520.4(GTF3C1):c.4390C>T (p.Leu1464Phe)	GTF3C1 (L1464F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103133	NM_001520.4(GTF3C1):c.3776C>T (p.Thr1259Met)	GTF3C1 (T1259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103132	NM_001520.4(GTF3C1):c.3733C>T (p.Arg1245Cys)	GTF3C1 (R1245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103131	NM_001520.4(GTF3C1):c.3614G>A (p.Arg1205Gln)	GTF3C1 (R1205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103130	NM_001520.4(GTF3C1):c.2674A>G (p.Ile892Val)	GTF3C1 (I892V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103129	NM_001520.4(GTF3C1):c.2593G>A (p.Val865Ile)	GTF3C1 (V865I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103128	NM_001520.4(GTF3C1):c.2528C>T (p.Pro843Leu)	GTF3C1 (P843L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103127	NM_001520.4(GTF3C1):c.2524C>T (p.Arg842Trp)	GTF3C1 (R842W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103126	NM_001520.4(GTF3C1):c.1624A>G (p.Arg542Gly)	GTF3C1 (R542G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103125	NM_001520.4(GTF3C1):c.1505C>T (p.Ala502Val)	GTF3C1 (A502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103124	NM_001520.4(GTF3C1):c.1087G>T (p.Val363Leu)	GTF3C1 (V363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063434	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2618389	NM_001520.4(GTF3C1):c.3294T>C (p.Thr1098=)	GTF3C1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2603494	NM_001520.4(GTF3C1):c.2287C>T (p.Arg763Trp)	GTF3C1 (R763W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601817	NM_001520.4(GTF3C1):c.5762C>T (p.Ala1921Val)	GTF3C1 (A1921V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599824	NM_001520.4(GTF3C1):c.3946G>A (p.Val1316Ile)	GTF3C1 (V1316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599516	NM_001520.4(GTF3C1):c.1667C>T (p.Thr556Ile)	GTF3C1 (T556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599515	NM_001520.4(GTF3C1):c.1600T>A (p.Ser534Thr)	GTF3C1 (S534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598144	NM_001520.4(GTF3C1):c.1097G>A (p.Arg366Gln)	GTF3C1 (R366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588371	NM_001520.4(GTF3C1):c.3172G>A (p.Val1058Ile)	GTF3C1 (V1058I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2569974	NM_001520.4(GTF3C1):c.4197G>A (p.Arg1399=)	GTF3C1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2566539	NM_001520.4(GTF3C1):c.5588G>A (p.Arg1863His)	GTF3C1 (R1863H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554702	NM_001520.4(GTF3C1):c.5953C>T (p.Arg1985Trp)	GTF3C1 (R1985W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552183	NM_001520.4(GTF3C1):c.4110T>G (p.Phe1370Leu)	GTF3C1 (F1370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551995	NM_001520.4(GTF3C1):c.6148C>T (p.Arg2050Cys)	GTF3C1 (R2050C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548339	NM_001520.4(GTF3C1):c.5662C>T (p.Leu1888Phe)	GTF3C1 (L1888F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548026	NM_001520.4(GTF3C1):c.4393G>A (p.Val1465Met)	GTF3C1 (V1465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544394	NM_001520.4(GTF3C1):c.5465G>A (p.Arg1822Lys)	GTF3C1 (R1822K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537679	NM_001520.4(GTF3C1):c.3558G>T (p.Glu1186Asp)	GTF3C1 (E1186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527145	NM_001520.4(GTF3C1):c.3056G>A (p.Arg1019Gln)	GTF3C1 (R1019Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521609	NM_001520.4(GTF3C1):c.4360C>T (p.Arg1454Cys)	GTF3C1 (R1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519674	NM_001520.4(GTF3C1):c.3320G>C (p.Gly1107Ala)	GTF3C1 (G1107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511884	NM_001520.4(GTF3C1):c.121C>T (p.Pro41Ser)	GTF3C1 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508330	NM_001520.4(GTF3C1):c.6149G>A (p.Arg2050His)	GTF3C1 (R2025H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494614	NM_001520.4(GTF3C1):c.4015G>A (p.Glu1339Lys)	GTF3C1 (E1339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480481	NM_001520.4(GTF3C1):c.3866G>A (p.Gly1289Asp)	GTF3C1 (G1289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479869	NM_001520.4(GTF3C1):c.6274C>T (p.Arg2092Trp)	GTF3C1 (R2067W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479669	NM_001520.4(GTF3C1):c.3302G>A (p.Arg1101His)	GTF3C1 (R1101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478129	NM_001520.4(GTF3C1):c.818T>C (p.Ile273Thr)	GTF3C1 (I273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476011	NM_001520.4(GTF3C1):c.4330A>G (p.Met1444Val)	GTF3C1 (M1444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473677	NM_001520.4(GTF3C1):c.4993A>C (p.Asn1665His)	GTF3C1 (N1665H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470380	NM_001520.4(GTF3C1):c.4640A>G (p.Gln1547Arg)	GTF3C1 (Q1547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470206	NM_001520.4(GTF3C1):c.4343A>G (p.Gln1448Arg)	GTF3C1 (Q1448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462850	NM_001520.4(GTF3C1):c.5323G>A (p.Gly1775Arg)	GTF3C1 (G1775R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2403226	NM_001520.4(GTF3C1):c.128C>T (p.Thr43Met)	GTF3C1 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402448	NM_001520.4(GTF3C1):c.3301C>T (p.Arg1101Cys)	GTF3C1 (R1101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398486	NM_001520.4(GTF3C1):c.5123C>T (p.Thr1708Met)	GTF3C1 (T1708M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386979	NM_001520.4(GTF3C1):c.5591C>T (p.Ala1864Val)	GTF3C1 (A1864V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375818	NM_001520.4(GTF3C1):c.5633C>A (p.Thr1878Asn)	GTF3C1 (T1878N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374013	NM_001520.4(GTF3C1):c.806G>A (p.Arg269Gln)	GTF3C1 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370264	NM_001520.4(GTF3C1):c.4211C>T (p.Ala1404Val)	GTF3C1 (A1404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362125	NM_001520.4(GTF3C1):c.5656C>T (p.Pro1886Ser)	GTF3C1 (P1886S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360335	NM_001520.4(GTF3C1):c.3421G>A (p.Ala1141Thr)	GTF3C1 (A1141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357345	NM_001520.4(GTF3C1):c.4439G>A (p.Arg1480His)	GTF3C1 (R1480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356286	NM_001520.4(GTF3C1):c.5345A>G (p.Asp1782Gly)	GTF3C1 (D1782G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355244	NM_001520.4(GTF3C1):c.1499C>T (p.Ala500Val)	GTF3C1 (A500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354916	NM_001520.4(GTF3C1):c.4708G>T (p.Ala1570Ser)	GTF3C1 (A1570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346042	NM_001520.4(GTF3C1):c.2177C>T (p.Ser726Phe)	GTF3C1 (S726F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338734	NM_001520.4(GTF3C1):c.2713G>A (p.Val905Ile)	GTF3C1 (V905I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337197	NM_001520.4(GTF3C1):c.1669A>G (p.Ser557Gly)	GTF3C1 (S557G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336397	NM_001520.4(GTF3C1):c.2516C>G (p.Ala839Gly)	GTF3C1 (A839G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329868	NM_001520.4(GTF3C1):c.2321C>T (p.Thr774Ile)	GTF3C1 (T774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325233	NM_001520.4(GTF3C1):c.5014T>G (p.Ser1672Ala)	GTF3C1 (S1672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321499	NM_001520.4(GTF3C1):c.2558G>A (p.Cys853Tyr)	GTF3C1 (C853Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314964	NM_001520.4(GTF3C1):c.1646G>A (p.Ser549Asn)	GTF3C1 (S549N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303622	NM_001520.4(GTF3C1):c.5279A>G (p.Glu1760Gly)	GTF3C1 (E1760G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301765	NM_001520.4(GTF3C1):c.3944C>G (p.Ser1315Cys)	GTF3C1 (S1315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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