Allyltriethylammonium Iodide - ClinVar - NCBI

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The following term was not found in ClinVar: Allyltriethylammonium.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331215	NM_001206744.2(TPO):c.-75A>G	TPO	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 894538	NM_001206744.2(TPO):c.-69C>T	TPO	Single nucleotide variant (5 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893110	NM_001206744.2(TPO):c.-51C>T	TPO	Single nucleotide variant (5 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893111	NM_001206744.2(TPO):c.-10G>C	TPO	Single nucleotide variant (5 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331216	NM_001206744.2(TPO):c.-2+19T>C	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893112	NM_001206744.2(TPO):c.-1-11G>A	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331217	NM_001206744.2(TPO):c.9G>A (p.Ala3=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331218	NM_001206744.2(TPO):c.12C>T (p.Leu4=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256607	NM_001206744.2(TPO):c.12C>G (p.Leu4=)	TPO	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1323705	NM_001206744.2(TPO):c.31_50dup (p.Glu17fs)	TPO (E17fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 331219	NM_001206744.2(TPO):c.30G>A (p.Thr10=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +2 more	GConflicting classifications of pathogenicity
Select item 331220	NM_001206744.2(TPO):c.94+13C>T	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 893322	NM_001206744.2(TPO):c.95-14A>G	TPO	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331221	NM_001206744.2(TPO):c.95-4G>A	TPO	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331222	NM_001206744.2(TPO):c.180-6C>A	TPO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 893323	NM_001206744.2(TPO):c.208C>G (p.Pro70Ala)	TPO (P70A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028337	NM_001206744.2(TPO):c.214C>T (p.Gln72Ter)	TPO (Q72*)	Single nucleotide variant (nonsense)	Deficiency of iodide peroxidase	GPathogenic
Select item 1701830	NM_001206744.2(TPO):c.265C>T (p.Arg89Ter)	TPO (R89*)	Single nucleotide variant (nonsense)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 893324	NM_001206744.2(TPO):c.266G>A (p.Arg89Gln)	TPO (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 893325	NM_001206744.2(TPO):c.346A>G (p.Thr116Ala)	TPO (T116A)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893326	NM_001206744.2(TPO):c.348G>A (p.Thr116=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 585086	NM_001206744.2(TPO):c.387del (p.Asn129fs)	TPO (N129fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1065534	NM_001206744.2(TPO):c.391T>C (p.Ser131Pro)	TPO (S131P)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 331223	NM_001206744.2(TPO):c.404C>A (p.Pro135His)	TPO (P135H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 331224	NM_001206744.2(TPO):c.443C>T (p.Ala148Val)	TPO (A148V)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 2664754	NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)	TPO (R152K)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 331306	NM_001206744.2(TPO):c.491C>A (p.Pro164His)	TPO (P164H)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 756292	NM_001206744.2(TPO):c.501C>T (p.Gly167=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894163	NM_001206744.2(TPO):c.502G>A (p.Ala168Thr)	TPO (A168T)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331307	NM_001206744.2(TPO):c.524G>A (p.Arg175Gln)	TPO (R175Q)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 894164	NM_001206744.2(TPO):c.587T>C (p.Leu196Ser)	TPO (L196S)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GUncertain significance
Select item 331308	NM_001206744.2(TPO):c.612G>A (p.Pro204=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 331309	NM_001206744.2(TPO):c.612+15C>T	TPO	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894569	NM_001206744.2(TPO):c.617G>A (p.Arg206Gln)	TPO (R206Q)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331310	NM_001206744.2(TPO):c.650A>G (p.Asn217Ser)	TPO (N217S)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +2 more	GUncertain significance
Select item 256615	NM_001206744.2(TPO):c.660C>T (p.Val220=)	TPO	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 894570	NM_001206744.2(TPO):c.712G>T (p.Asp238Tyr)	TPO (D238Y)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 869101	NM_001206744.2(TPO):c.719A>G (p.Asp240Gly)	TPO (D240G)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 623381	NM_001206744.2(TPO):c.764dup (p.Gly256fs)	TPO (G256fs)	Duplication (frameshift variant)	Deficiency of iodide peroxidase	GPathogenic
Select item 331311	NM_001206744.2(TPO):c.759C>T (p.Phe253=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256616	NM_001206744.2(TPO):c.769G>T (p.Ala257Ser)	TPO (A257S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 331312	NM_001206744.2(TPO):c.819A>G (p.Gln273=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 894571	NM_001206744.2(TPO):c.820-15C>T	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331313	NM_001206744.2(TPO):c.840G>A (p.Pro280=)	TPO	Single nucleotide variant (synonymous variant +1 more)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 893144	NM_001206744.2(TPO):c.905G>A (p.Gly302Asp)	TPO (G302D)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 2444201	NM_001206744.2(TPO):c.920A>C (p.Asn307Thr)	TPO (N307T)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 2573441	NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)	TPO (E337K)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 331314	NM_001206744.2(TPO):c.1032C>G (p.Thr344=)	TPO	Single nucleotide variant (synonymous variant +1 more)	Deficiency of iodide peroxidase +1 more	GBenign/Likely benign
Select item 893145	NM_001206744.2(TPO):c.1037C>T (p.Ala346Val)	TPO (A346V)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331315	NM_001206744.2(TPO):c.1059C>T (p.His353=)	TPO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 714471	NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu)	TPO (R361L)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase +2 more	GConflicting classifications of pathogenicity
Select item 256605	NM_001206744.2(TPO):c.1117G>T (p.Ala373Ser)	TPO (A373S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 893146	NM_001206744.2(TPO):c.1119G>A (p.Ala373=)	TPO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3339956	NM_001206744.2(TPO):c.1132G>A (p.Glu378Lys)	TPO (E378K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 893361	NM_001206744.2(TPO):c.1138G>A (p.Gly380Ser)	TPO (G380S)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 1687271	NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg)	TPO (G387R)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 429301	NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)	TPO (A397fs)	Duplication (frameshift variant +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 256606	NM_001206744.2(TPO):c.1193G>C (p.Ser398Thr)	TPO (S398T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 769558	NM_001206744.2(TPO):c.1277C>G (p.Ala426Gly)	TPO (A426G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 331316	NM_001206744.2(TPO):c.1294G>A (p.Ala432Thr)	TPO (A432T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1028336	NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys)	TPO (R438C)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893362	NM_001206744.2(TPO):c.1313G>A (p.Arg438His)	TPO (R438H)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331317	NM_001206744.2(TPO):c.1317G>A (p.Lys439=)	TPO	Single nucleotide variant (synonymous variant +1 more)	Deficiency of iodide peroxidase +2 more	GConflicting classifications of pathogenicity
Select item 331318	NM_001206744.2(TPO):c.1338+5G>A	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 2920846	NM_001206744.2(TPO):c.1339-1147T>C	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase	GBenign
Select item 4043	NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe)	TPO (I447F +1 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GPathogenic
Select item 4044	NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)	TPO (Y453D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 930340	NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del)	TPO	Deletion (inframe_deletion)	Deficiency of iodide peroxidase	GUncertain significance
Select item 252491	NM_001206744.2(TPO):c.1472G>A (p.Arg491His)	TPO (R491H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1064772	NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser)	TPO (G320S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 786476	NM_001206744.2(TPO):c.1483G>A (p.Ala495Thr)	TPO (A495T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 780332	NM_001206744.2(TPO):c.1491C>T (p.Ile497=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4052	NM_001206744.2(TPO):c.1496del (p.Pro499fs)	TPO (P326fs +1 more)	Deletion (frameshift variant)	Deficiency of iodide peroxidase	GPathogenic
Select item 374178	NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)	TPO (H520Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +7 more	GLikely pathogenic
Select item 769559	NM_001206744.2(TPO):c.1566T>C (p.Ala522=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 769561	NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe)	TPO (L529F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 4042	NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)	TPO (R540* +1 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 331325	NM_001206744.2(TPO):c.1728G>A (p.Ala576=)	TPO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 931713	NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys)	TPO (G410C +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 1710270	NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)	TPO (R411W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 723057	NM_001206744.2(TPO):c.1758C>T (p.His586=)	TPO	Single nucleotide variant (synonymous variant +1 more)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 4045	NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser)	TPO (G590S +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GPathogenic
Select item 1333570	NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter)	TPO (E423* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 331357	NM_001206744.2(TPO):c.1852G>A (p.Val618Met)	TPO (V618M +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GBenign
Select item 331358	NM_001206744.2(TPO):c.1857C>G (p.Ala619=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +2 more	GConflicting classifications of pathogenicity
Select item 894602	NM_001206744.2(TPO):c.1863G>A (p.Lys621=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331359	NM_001206744.2(TPO):c.1899T>C (p.Asp633=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 4048	NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln)	TPO (R648Q +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 4054	NM_001206744.2(TPO):c.1955dup (p.Phe653fs)	TPO (F596fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 331360	NM_001206744.2(TPO):c.1961C>T (p.Ala654Val)	TPO (A654V +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 4053	NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	TPO (Q660E +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 2734130	NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp)	TPO (R665W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 374344	NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)	TPO (R665Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 256608	NM_001206744.2(TPO):c.1998C>T (p.Asp666=)	TPO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 894603	NM_001206744.2(TPO):c.2007-12C>T	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331362	NM_001206744.2(TPO):c.2007-5T>C	TPO	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894604	NM_001206744.2(TPO):c.2051G>A (p.Arg684His)	TPO (R627H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 4051	NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp)	TPO (R693W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 331363	NM_001206744.2(TPO):c.2116A>G (p.Met706Val)	TPO (M706V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 256610	NM_001206744.2(TPO):c.2145C>T (p.Pro715=)	TPO	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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