"ITMI"[submitter] AND "TET2-AS1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135316	NM_001127208.3(TET2):c.86C>G (p.Pro29Arg)	TET2, TET2-AS1 (P29R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 135308	NM_001127208.3(TET2):c.100C>T (p.Leu34Phe)	TET2, TET2-AS1 (L34F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135322	NM_001127208.3(TET2):c.197T>C (p.Met66Thr)	TET2, TET2-AS1 (M66T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135320	NM_001127208.3(TET2):c.434G>A (p.Ser145Asn)	TET2, TET2-AS1 (S145N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135315	NM_001127208.3(TET2):c.521C>A (p.Pro174His)	TET2, TET2-AS1 (P174H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135321	NM_001127208.3(TET2):c.652G>A (p.Val218Met)	TET2, TET2-AS1 (V218M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135307	NM_001127208.3(TET2):c.899A>G (p.Asp300Gly)	TET2, TET2-AS1 (D300G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135325	NM_001127208.3(TET2):c.920T>G (p.Leu307Arg)	TET2-AS1, TET2 (L307R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135301	NM_001127208.3(TET2):c.959AAC[1] (p.Gln321del)	TET2, TET2-AS1 (Q321del)	Microsatellite (inframe_deletion)	not specified	Gnot provided
Select item 135317	NM_001127208.3(TET2):c.1064G>A (p.Gly355Asp)	TET2, TET2-AS1 (G355D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135309	NM_001127208.3(TET2):c.1088C>T (p.Pro363Leu)	TET2, TET2-AS1 (P363L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135318	NM_001127208.3(TET2):c.1285G>A (p.Gly429Arg)	TET2, TET2-AS1 (G429R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 135310	NM_001127208.3(TET2):c.1379C>T (p.Ser460Phe)	TET2-AS1, TET2 (S460F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135311	NM_001127208.3(TET2):c.1724C>T (p.Ala575Val)	TET2, TET2-AS1 (A575V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135302	NM_001127208.3(TET2):c.1745A>G (p.Asn582Ser)	TET2, TET2-AS1 (N582S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135319	NM_001127208.3(TET2):c.1819G>A (p.Gly607Arg)	TET2, TET2-AS1 (G607R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135303	NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg)	TET2, TET2-AS1 (Q810R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135312	NM_001127208.3(TET2):c.2440C>T (p.Arg814Cys)	TET2, TET2-AS1 (R814C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135304	NM_001127208.3(TET2):c.2549A>G (p.His850Arg)	TET2, TET2-AS1 (H850R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135323	NM_001127208.3(TET2):c.2599T>C (p.Tyr867His)	TET2, TET2-AS1 (Y867H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 135324	NM_001127208.3(TET2):c.2604T>G (p.Phe868Leu)	TET2, TET2-AS1 (F868L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 135305	NM_001127208.3(TET2):c.2771A>G (p.His924Arg)	TET2, TET2-AS1 (H924R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 135313	NM_001127208.3(TET2):c.3035C>T (p.Pro1012Leu)	TET2, TET2-AS1 (P1012L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135314	NM_001127208.3(TET2):c.3116C>T (p.Ser1039Leu)	TET2, TET2-AS1 (S1039L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 135306	NM_001127208.3(TET2):c.3251A>C (p.Gln1084Pro)	TET2, TET2-AS1 (Q1084P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 135329	NM_001127208.3(TET2):c.3409+15T>A	TET2, TET2-AS1 (C1142S)	Single nucleotide variant (missense variant +1 more)	TET2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 135326	NM_001127208.3(TET2):c.3409+18A>G	TET2, TET2-AS1 (T1143A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 135327	NM_001127208.3(TET2):c.3409+42G>T	TET2, TET2-AS1 (E1151*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 135328	NM_001127208.3(TET2):c.3409+70G>A	TET2, TET2-AS1 (G1160E)	Single nucleotide variant (missense variant +1 more)	TET2-related disorder	GLikely benign
Select item 135295	NM_001127208.3(TET2):c.4817G>C (p.Gly1606Ala)	TET2, TET2-AS1 (G1606A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135296	NM_001127208.3(TET2):c.5103G>A (p.Met1701Ile)	TET2, TET2-AS1 (M1701I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 135297	NM_001127208.3(TET2):c.5152G>T (p.Val1718Leu)	TET2, TET2-AS1 (V1718L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 135300	NM_001127208.3(TET2):c.5162T>G (p.Leu1721Trp)	TET2, TET2-AS1 (L1721W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135292	NM_001127208.3(TET2):c.5167C>T (p.Pro1723Ser)	TET2, TET2-AS1 (P1723S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 135288	NM_001127208.3(TET2):c.5284A>T (p.Ile1762Leu)	TET2, TET2-AS1 (I1762L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135287	NM_001127208.3(TET2):c.5284A>G (p.Ile1762Val)	TET2, TET2-AS1 (I1762V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 135298	NM_001127208.3(TET2):c.5305G>C (p.Ala1769Pro)	TET2-AS1, TET2 (A1769P)	Single nucleotide variant (missense variant)	Immunodeficiency 75 +1 more	GUncertain significance
Select item 135289	NM_001127208.3(TET2):c.5333A>G (p.His1778Arg)	TET2, TET2-AS1 (H1778R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135293	NM_001127208.3(TET2):c.5449C>A (p.His1817Asn)	TET2, TET2-AS1 (H1817N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 135290	NM_001127208.3(TET2):c.5453A>T (p.Lys1818Ile)	TET2, TET2-AS1 (K1818I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135294	NM_001127208.3(TET2):c.5885C>T (p.Pro1962Leu)	TET2, TET2-AS1 (P1962L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135299	NM_001127208.3(TET2):c.5914G>C (p.Ala1972Pro)	TET2, TET2-AS1 (A1972P)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135291	NM_001127208.3(TET2):c.6004A>G (p.Ile2002Val)	TET2, TET2-AS1 (I2002V)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 43