ClinVar for MedGen (Select 226940) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920846	NM_001206744.2(TPO):c.1339-1147T>C	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase	GBenign
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 2664755	NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)	LOC126806104, TPO (W700* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 2581320	NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter)	TPO (L658* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 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 1878423	NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup	TPO	Duplication	Deficiency of iodide peroxidase	GLikely pathogenic
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 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 1687484	NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg)	TPO (C652R +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GLikely pathogenic
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 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 1323705	NM_001206744.2(TPO):c.31_50dup (p.Glu17fs)	TPO (E17fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1254323	NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)	TPO (G687R +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
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 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 1028338	NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro)	TPO (S594P +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	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 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 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 930340	NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del)	TPO	Deletion (inframe_deletion)	Deficiency of iodide peroxidase	GUncertain significance
Select item 916543	NM_001206744.2(TPO):c.2315A>G (p.Tyr772Cys)	TPO (Y599C +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GLikely pathogenic
Select item 894729	NM_001206744.2(TPO):c.*113G>A	TPO	Single nucleotide variant (3 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 894728	NM_001206744.2(TPO):c.*54C>T	TPO	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 894727	NM_001206744.2(TPO):c.*37T>C	TPO	Single nucleotide variant (3 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 894726	NM_001206744.2(TPO):c.2758G>C (p.Gly920Arg)	TPO (G747R +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 894671	NM_001206744.2(TPO):c.2536C>T (p.Arg846Trp)	TPO (R673W +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +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 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 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 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 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 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 894538	NM_001206744.2(TPO):c.-69C>T	TPO	Single nucleotide variant (5 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
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 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 893816	NM_001206744.2(TPO):c.2704G>T (p.Val902Leu)	TPO, LOC126806104 (V729L +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893815	NM_001206744.2(TPO):c.2691A>T (p.Gly897=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893814	NM_001206744.2(TPO):c.2652C>G (p.Ile884Met)	LOC126806104, TPO (I840M +3 more)	Single nucleotide variant (missense variant)	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 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 893326	NM_001206744.2(TPO):c.348G>A (p.Thr116=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase	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 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 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 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 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 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 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 893112	NM_001206744.2(TPO):c.-1-11G>A	TPO	Single nucleotide variant (intron 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 893110	NM_001206744.2(TPO):c.-51C>T	TPO	Single nucleotide variant (5 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 892681	NM_001206744.2(TPO):c.2577C>T (p.Ile859=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 892680	NM_001206744.2(TPO):c.2539G>A (p.Val847Met)	TPO (V803M +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 892679	NM_001206744.2(TPO):c.2537G>A (p.Arg846Gln)	TPO (R673Q +3 more)	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 801646	NM_001206744.2(TPO):c.2644C>G (p.Leu882Val)	LOC126806104, TPO (L825V +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
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 780333	NM_001206744.2(TPO):c.2386+8C>G	TPO	Single nucleotide variant (intron 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 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 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 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 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 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 721143	NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp)	TPO (R712W +2 more)	Single nucleotide variant (missense variant)	not provided +2 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 632332	NM_001206744.2(TPO):c.2422del (p.Cys808fs)	TPO (C635fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 623381	NM_001206744.2(TPO):c.764dup (p.Gly256fs)	TPO (G256fs)	Duplication (frameshift variant)	Deficiency of iodide peroxidase	GPathogenic
Select item 623380	NM_001206744.2(TPO):c.2421del (p.Cys808fs)	TPO (C808fs +2 more)	Deletion (frameshift variant +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 585086	NM_001206744.2(TPO):c.387del (p.Asn129fs)	TPO (N129fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 331647	NM_001206744.2(TPO):c.*144T>C	TPO	Single nucleotide variant (3 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331646	NM_001206744.2(TPO):c.*124G>C	TPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 331645	NM_001206744.2(TPO):c.*115G>T	TPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331644	NM_001206744.2(TPO):c.*81C>G	TPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331643	NM_001206744.2(TPO):c.*63dup	TPO	Duplication (3 prime UTR variant)	Congenital hypothyroidism +1 more	GUncertain significance
Select item 331642	NM_001206744.2(TPO):c.*55G>A	TPO	Single nucleotide variant (3 prime UTR variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331641	NM_001206744.2(TPO):c.2749-4G>A	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331640	NM_001206744.2(TPO):c.2717C>T (p.Pro906Leu)	LOC126806104, TPO (P906L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331639	NM_001206744.2(TPO):c.2703C>T (p.Ala901=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331638	NM_001206744.2(TPO):c.2702C>G (p.Ala901Gly)	LOC126806104, TPO (A901G +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331396	NM_001206744.2(TPO):c.2538G>C (p.Arg846=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331395	NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg)	TPO (G842R +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331394	NM_001206744.2(TPO):c.2500G>A (p.Asp834Asn)	TPO (D834N +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 331393	NM_001206744.2(TPO):c.2499C>T (p.Asp833=)	TPO	Single nucleotide variant (synonymous variant +1 more)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331392	NM_001206744.2(TPO):c.2436G>A (p.Ala812=)	TPO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331391	NM_001206744.2(TPO):c.2387-12T>C	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331369	NM_001206744.2(TPO):c.2306G>A (p.Arg769Gln)	TPO (R769Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 331368	NM_001206744.2(TPO):c.2286C>T (p.Arg762=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 331367	NM_001206744.2(TPO):c.2241C>T (p.Ser747=)	TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331366	NM_001206744.2(TPO):c.2215+5A>C	TPO	Single nucleotide variant (intron variant)	Deficiency of iodide peroxidase +1 more	GBenign
Select item 331365	NM_001206744.2(TPO):c.2212C>G (p.Gln738Glu)	TPO (Q738E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 331364	NM_001206744.2(TPO):c.2181G>T (p.Met727Ile)	TPO (M727I +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	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 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 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

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