Unique variants in gene TPO

Information The variants shown are described using the NM_000547.5 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 3 - c.12C>G r.(?) p.(Leu4=) - benign g.1418192C>G g.1414420C>G TPO(NM_000547.5):c.12C>G (p.L4=) - TPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 2 - c.30G>A r.(?) p.(Thr10=) - benign g.1418210G>A g.1414438G>A TPO(NM_000547.5):c.30G>A (p.T10=) - TPO_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.38T>C r.(?) p.(Met13Thr) - VUS g.1418218T>C g.1414446T>C TPO(NM_000547.5):c.38T>C (p.M13T) - TPO_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.95-30G>A r.(=) p.(=) - benign g.1426787G>A g.1423015G>A TPO(NM_000547.5):c.95-30G>A - TPO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.95-21G>C r.(=) p.(=) - benign g.1426796G>C g.1423024G>C TPO(NM_000547.5):c.95-21G>C - TPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.180-6C>A r.(=) p.(=) - benign g.1437204C>A g.1433432C>A TPO(NM_000547.5):c.180-6C>A - TPO_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.208C>G r.(?) p.(Pro70Ala) - VUS g.1437238C>G g.1433466C>G TPO(NM_000547.5):c.208C>G (p.P70A) - TPO_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.230C>T r.(?) p.(Ser77Phe) - VUS g.1437260C>T g.1433488C>T - - TPO_000071 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.404C>A r.(?) p.(Pro135His) - benign g.1440078C>A g.1436306C>A TPO(NM_000547.5):c.404C>A (p.P135H) - TPO_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.482+2409_482+2412del r.(=) p.(=) - benign g.1442565_1442568del g.1438793_1438796del TPO(NM_000547.5):c.482+2409_482+2412delTTTT - TPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.483-3C>G r.spl? p.? - likely pathogenic g.1457463C>G g.1453691C>G TPO(NM_000547.5):c.483-3C>G - TPO_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.612+15C>A r.(=) p.(=) - benign g.1457610C>A g.1453838C>A TPO(NM_000547.5):c.612+15C>A - TPO_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.612+15C>T r.(=) p.(=) - benign g.1457610C>T g.1453838C>T TPO(NM_000547.5):c.612+15C>T - TPO_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.660C>T r.(?) p.(Val220=) - benign g.1459895C>T g.1456123C>T TPO(NM_000547.5):c.660C>T (p.V220=) - TPO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.723C>T r.(?) p.(Ile241=) - benign g.1459958C>T g.1456186C>T TPO(NM_000547.5):c.723C>T (p.I241=) - TPO_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.769G>T r.(?) p.(Ala257Ser) - benign g.1460004G>T g.1456232G>T TPO(NM_000547.5):c.769G>T (p.A257S) - TPO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.835C>T r.(?) p.(Arg279Trp) - likely benign g.1480873C>T g.1477101C>T TPO(NM_001206744.2):c.835C>T (p.R279W) - TPO_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.840G>A r.(?) p.(Pro280=) - benign g.1480878G>A g.1477106G>A TPO(NM_000547.5):c.840G>A (p.P280=) - TPO_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1032C>G r.(?) p.(Thr344=) - benign g.1481070C>G g.1477298C>G TPO(NM_000547.5):c.1032C>G (p.T344=) - TPO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.1117G>T r.(?) p.(Ala373Ser) - benign g.1481155G>T g.1477383G>T TPO(NM_000547.5):c.1117G>T (p.A373S) - TPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
+/. 4 - c.1184_1187dup r.(?) p.(Ala397Profs*76), p.(Ala397ProfsTer76) - pathogenic (recessive), pathogenic g.1481222_1481225dup g.1477450_1477453dup 1184_1187dupGCCG, TPO(NM_000547.5):c.1184_1187dupGCCG (p.A397Pfs*76) - TPO_000046 VKGL data sharing initiative Nederland PubMed: Fliedner 2020, Journal: Fliedner 2020 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 3 - c.1193G>C r.(?) p.(Ser398Thr) - benign g.1481231G>C g.1477459G>C TPO(NM_000547.5):c.1193G>C (p.S398T) - TPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen
-?/. 1 - c.1277C>A r.(?) p.(Ala426Glu) - likely benign g.1481315C>A g.1477543C>A TPO(NM_000547.5):c.1277C>A (p.A426E) - TPO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1306G>C r.(?) p.(Glu436Gln) - VUS g.1481344G>C g.1477572G>C TPO(NM_000547.5):c.1306G>C (p.E436Q) - TPO_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.1357T>G r.(?) p.(Tyr453Asp) - pathogenic, likely pathogenic g.1488386T>G g.1484614T>G TPO(NM_000547.5):c.1357T>G (p.Y453D) - TPO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.1429G>A r.(?) p.(Ala477Thr) - VUS g.1488458G>A g.1484686G>A TPO(NM_000547.5):c.1429G>A (p.A477T) - TPO_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1472G>A r.(?) p.(Arg491His) - pathogenic (recessive) g.1488501G>A - - - TPO_000072 - PubMed: Fliedner 2020, Journal: Fliedner 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1477G>A r.(?) p.(Gly493Ser) - pathogenic g.1488506G>A g.1484734G>A TPO(NM_000547.5):c.1477G>A (p.G493S) - TPO_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1566T>C r.(?) p.(Ala522=) - benign g.1488595T>C g.1484823T>C TPO(NM_000547.5):c.1566T>C (p.A522=) - TPO_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1585T>C r.(?) p.(Leu529=) - benign g.1488614T>C g.1484842T>C TPO(NM_000547.5):c.1585T>C (p.L529=) - TPO_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1587A>C r.(?) p.(Leu529Phe) - likely benign g.1488616A>C g.1484844A>C TPO(NM_000547.5):c.1587A>C (p.L529F) - TPO_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1671C>T r.(?) p.(Asn557=) - benign g.1491666C>T g.1487894C>T TPO(NM_000547.5):c.1671C>T (p.N557=) - TPO_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1728G>A r.(?) p.(Ala576=) - benign g.1491723G>A g.1487951G>A TPO(NM_000547.5):c.1728G>A (p.A576=) - TPO_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1750C>T r.(?) p.(Arg584Trp) - pathogenic g.1491745C>T g.1487973C>T TPO(NM_000547.5):c.1750C>T (p.R584W) - TPO_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1751G>A r.(?) p.(Arg584Gln) - VUS g.1491746G>A g.1487974G>A TPO(NM_000547.5):c.1751G>A (p.R584Q) - TPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1805G>A r.(?) p.(Arg602His) - benign g.1497610G>A g.1493838G>A TPO(NM_000547.5):c.1805G>A (p.R602H) - TPO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1852G>A r.(?) p.(Val618Met) - benign g.1497657G>A g.1493885G>A TPO(NM_000547.5):c.1852G>A (p.V618M) - TPO_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1857C>G r.(?) p.(Ala619=) - likely benign g.1497662C>G g.1493890C>G TPO(NM_000547.5):c.1857C>G (p.A619=) - TPO_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1958T>C r.(?) p.(Phe653Ser) - likely pathogenic g.1497763T>C g.1493991T>C TPO(NM_000547.5):c.1958T>C (p.F653S) - TPO_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1998C>T r.(?) p.(Asp666=) - benign g.1497803C>T g.1494031C>T TPO(NM_000547.5):c.1998C>T (p.D666=) - TPO_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.2006+20G>A r.(=) p.(=) - benign g.1497831G>A g.1494059G>A TPO(NM_000547.5):c.2006+20G>A - TPO_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2007-9_2007-7del r.(=) p.(=) - benign g.1499752_1499754del g.1495980_1495982del TPO(NM_000547.5):c.2007-9_2007-7delTCT - TPO_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.2077C>T r.(?) p.(Arg693Trp) - pathogenic g.1499831C>T g.1496059C>T TPO(NM_001206744.2):c.2077C>T (p.R693W) - TPO_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2116A>G r.(?) p.(Met706Val) - benign g.1499870A>G g.1496098A>G TPO(NM_000547.5):c.2116A>G (p.M706V) - TPO_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2134G>A r.(?) p.(Gly712Ser) - likely benign g.1499888G>A g.1496116G>A TPO(NM_000547.5):c.2134G>A (p.G712S) - TPO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2145C>T r.(?) p.(Pro715=) - benign g.1499899C>T g.1496127C>T TPO(NM_000547.5):c.2145C>T (p.P715=) - TPO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 3 - c.2173A>C r.(?) p.(Thr725Pro) - benign g.1499927A>C g.1496155A>C TPO(NM_000547.5):c.2173A>C (p.T725P) - TPO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.2215+5A>C r.spl? p.? - benign g.1499974A>C g.1496202A>C TPO(NM_000547.5):c.2215+5A>C - TPO_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2215+16C>T r.(=) p.(=) - benign g.1499985C>T g.1496213C>T TPO(NM_000547.5):c.2215+16C>T - TPO_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2218_2220del r.(?) p.(Asp740del) - VUS g.1500369_1500371del g.1496597_1496599del TPO(NM_000547.5):c.2216-1_2217delGAC - TPO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2242G>A r.(?) p.(Val748Met) - benign g.1500393G>A g.1496621G>A TPO(NM_000547.5):c.2242G>A (p.V748M) - TPO_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.2268dup r.(?) p.(Glu757Ter) - pathogenic g.1500419dup g.1496647dup TPO(NM_000547.5):c.2268dupT (p.E757*) - TPO_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2286C>T r.(?) p.(Arg762=) - benign g.1500437C>T g.1496665C>T TPO(NM_000547.5):c.2286C>T (p.R762=) - TPO_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2305C>T r.(?) p.(Arg769Trp) - likely benign g.1500456C>T g.1496684C>T TPO(NM_000547.5):c.2305C>T (p.R769W) - TPO_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.2336A>C r.(?) p.(Gln779Pro) - likely pathogenic g.1500487A>C g.1496715A>C TPO(NM_000547.5):c.2336A>C (p.Q779P) - TPO_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.2337G>C r.(?) p.(Gln779His) - likely pathogenic g.1500488G>C g.1496716G>C TPO(NM_000547.5):c.2337G>C (p.Q779H) - TPO_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2386+8C>G r.(=) p.(=) - benign g.1500545C>G g.1496773C>G TPO(NM_000547.5):c.2386+8C>G - TPO_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 3 - c.2387-122G>T r.(=) p.(=) - pathogenic g.1507598G>T g.1503826G>T - - TPO_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.2387-17C>T r.(=) p.(=) - benign g.1507703C>T g.1503931C>T TPO(NM_000547.5):c.2387-17C>T - TPO_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2387-12T>C r.(=) p.(=) - benign g.1507708T>C g.1503936T>C TPO(NM_000547.5):c.2387-12T>C - TPO_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.2422del r.(?) p.(Cys808AlafsTer24) - pathogenic g.1507755del g.1503983del TPO(NM_000547.5):c.2422delT (p.C808Afs*24) - TPO_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.2519-17C>T r.(=) p.(=) - benign g.1520638C>T g.1516866C>T TPO(NM_000547.5):c.2519-17C>T - TPO_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.2540T>C r.(?) p.(Val847Ala) - benign g.1520676T>C g.1516904T>C TPO(NM_000547.5):c.2540T>C (p.V847A) - TPO_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen
+/. 1 - c.2578G>A r.(?) p.(Gly860Arg) - pathogenic g.1520714G>A g.1516942G>A TPO(NM_000547.5):c.2578G>A (p.G860R) - TPO_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2598C>T r.(?) p.(Thr866=) - likely benign g.1520734C>T g.1516962C>T TPO(NM_000547.5):c.2598C>T (p.T866=) - TPO_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2715_2724dup r.(?) p.(Ala909ThrfsTer75) - - g.1544462_1544471dup - TPO(NM_000547.5):c.2715_2724dupACCGCAGCGG (p.A909Tfs*75) - TPO_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2723_2732del r.(?) p.(Arg908LeufsTer63) - pathogenic g.1544470_1544479del g.1540698_1540707del TPO(NM_000547.5):c.2723_2732delGGGCCGCAGC (p.R908Lfs*63) - TPO_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2748+122G>A r.(=) p.(=) - benign g.1544617G>A g.1540845G>A TPO(NM_000547.5):c.2748+122G>A - TPO_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., -/. 2 - c.2749-4G>A r.spl? p.? - likely benign, benign g.1546189G>A g.1542417G>A TPO(NM_000547.5):c.2749-4G>A - TPO_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.*81C>G r.(=) p.(=) - benign g.1546327C>G g.1542555C>G TPO(NM_000547.5):c.*81C>G - TPO_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*115G>T r.(=) p.(=) - benign g.1546361G>T g.1542589G>T TPO(NM_000547.5):c.*115G>T - TPO_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend