ClinVar for OMIM (Select 275200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377496	NM_000369.5(TSHR):c.1552G>T (p.Glu518Ter)	TSHR (E518*)	Single nucleotide variant (nonsense)	Hypothyroidism due to TSH receptor mutations	GPathogenic
Select item 3336579	NM_000369.5(TSHR):c.823G>A (p.Ala275Thr)	TSHR (A275T)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GLikely pathogenic
Select item 3233814	NM_000369.5(TSHR):c.1348del (p.Arg450fs)	TSHR (R450fs)	Deletion (frameshift variant)	Hypothyroidism due to TSH receptor mutations +1 more	GPathogenic
Select item 2736138	NM_000369.5(TSHR):c.1957C>G (p.Leu653Val)	TSHR (L653V)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GPathogenic
Select item 2736136	NM_000369.5(TSHR):c.1555C>T (p.Arg519Cys)	TSHR (R519C)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GPathogenic
Select item 2682178	NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)	TSHR (R528C)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GLikely pathogenic
Select item 2664771	NM_000369.5(TSHR):c.1839C>A (p.Tyr613Ter)	TSHR (Y613*)	Single nucleotide variant (nonsense)	Hypothyroidism due to TSH receptor mutations	GPathogenic
Select item 2572312	NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn)	TSHR (D403N)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GLikely pathogenic
Select item 1687384	NM_000369.5(TSHR):c.1777del (p.Ala593fs)	TSHR (A593fs)	Deletion (frameshift variant)	Hypothyroidism due to TSH receptor mutations	GLikely pathogenic
Select item 1342855	NM_000369.5(TSHR):c.692+48T>A	TSHR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1303548	NM_000369.5(TSHR):c.170T>C (p.Leu57Pro)	CEP128, TSHR (L57P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1303168	NM_000369.5(TSHR):c.1574T>C (p.Phe525Ser)	TSHR (F525S)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +3 more	GConflicting classifications of pathogenicity
Select item 1284491	NM_000369.5(TSHR):c.692+163A>G	TSHR	Single nucleotide variant (synonymous variant +1 more)	Familial hyperthyroidism due to mutations in TSH receptor +3 more	GBenign
Select item 1204435	NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)	TSHR (T655fs)	Deletion (frameshift variant)	Familial gestational hyperthyroidism +3 more	GPathogenic/Likely pathogenic
Select item 917861	NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)	TSHR (I654F)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GLikely pathogenic
Select item 917858	NM_000369.5(TSHR):c.545+5G>T	TSHR	Single nucleotide variant (intron variant)	Hypothyroidism due to TSH receptor mutations	GPathogenic
Select item 888517	NM_000369.5(TSHR):c.2034T>C (p.Tyr678=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +2 more	GConflicting classifications of pathogenicity
Select item 888516	NM_000369.5(TSHR):c.1971C>T (p.Ser657=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +2 more	GConflicting classifications of pathogenicity
Select item 888396	NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)	TSHR (I155L)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 888395	NM_000369.5(TSHR):c.406A>G (p.Thr136Ala)	TSHR (T136A)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 887570	NM_000369.5(TSHR):c.*1486C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 887504	NM_000369.5(TSHR):c.*249A>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GConflicting classifications of pathogenicity
Select item 887374	NM_000369.5(TSHR):c.*1262C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 887317	NM_000369.5(TSHR):c.*242C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 887256	NM_000369.5(TSHR):c.1656C>T (p.Leu552=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 887255	NM_000369.5(TSHR):c.1621A>G (p.Ile541Val)	TSHR (I541V)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 887254	NM_000369.5(TSHR):c.1583G>A (p.Arg528His)	TSHR (R528H)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 887199	NM_000369.5(TSHR):c.915T>A (p.Ser305Arg)	TSHR (S305R)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +2 more	GConflicting classifications of pathogenicity
Select item 887198	NM_000369.5(TSHR):c.891G>A (p.Glu297=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 887133	NM_000369.5(TSHR):c.197C>A (p.Thr66Asn)	TSHR (T66N)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 887132	NM_000369.5(TSHR):c.190C>T (p.Leu64=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 886380	NM_000369.5(TSHR):c.*1053T>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 886325	NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser)	TSHR (G753S)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 886255	NM_000369.5(TSHR):c.1556G>A (p.Arg519His)	TSHR (R519H)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 886254	NM_000369.5(TSHR):c.1479G>A (p.Gly493=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 886191	NM_000369.5(TSHR):c.758T>C (p.Ile253Thr)	TSHR (I253T)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 886190	NM_000369.5(TSHR):c.756G>C (p.Leu252=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 886125	NM_000369.5(TSHR):c.100G>A (p.Glu34Lys)	CEP128, TSHR (E34K)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +4 more	GConflicting classifications of pathogenicity
Select item 885353	NM_000369.5(TSHR):c.*1845T>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 885352	NM_000369.5(TSHR):c.*1807T>A	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 885287	NM_000369.5(TSHR):c.611C>T (p.Ala204Val)	TSHR (A204V)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 885228	NM_000369.2(TSHR):c.-102C>T	CEP128, TSHR	Single nucleotide variant	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 885227	NM_000369.2(TSHR):c.-166C>T	CEP128, TSHR	Single nucleotide variant	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 884420	NM_000369.5(TSHR):c.*1559C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 884419	NM_000369.5(TSHR):c.*1496A>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 884355	NM_000369.5(TSHR):c.*458G>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 884296	NM_000369.5(TSHR):c.2154T>C (p.Asp718=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +2 more	GConflicting classifications of pathogenicity
Select item 884223	NM_000369.5(TSHR):c.1341C>T (p.Asn447=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 884222	NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg)	TSHR (C408R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 745091	NM_000369.5(TSHR):c.1206C>T (p.Ser402=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 733128	NM_001555.5(IGSF1):c.668-8G>A	IGSF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 726776	NM_000369.5(TSHR):c.765A>G (p.Arg255=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 706506	NM_000369.5(TSHR):c.735C>G (p.Gly245=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 623326	NM_000369.5(TSHR):c.484C>T (p.Pro162Ser)	TSHR (P162S)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GUncertain significance
Select item 437071	NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)	TSHR (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 426336	NM_000369.5(TSHR):c.418del (p.Met140fs)	TSHR (M140fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 403571	NM_000369.5(TSHR):c.692+49T>C	TSHR	Single nucleotide variant (intron variant)	Familial gestational hyperthyroidism +4 more	GBenign/Likely benign
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 314726	NM_000369.5(TSHR):c.*1946C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 314725	NM_000369.5(TSHR):c.*1898A>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314724	NM_000369.5(TSHR):c.*1813T>A	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GBenign/Likely benign
Select item 314722	NM_000369.5(TSHR):c.*1695T>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GConflicting classifications of pathogenicity
Select item 314721	NM_000369.5(TSHR):c.*1620C>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 314720	NM_000369.5(TSHR):c.*1580A>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GConflicting classifications of pathogenicity
Select item 314719	NM_000369.5(TSHR):c.*1417T>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GBenign
Select item 314718	NM_000369.5(TSHR):c.*1317C>A	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314717	NM_000369.5(TSHR):c.*1289A>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +2 more	GBenign/Likely benign
Select item 314716	NM_000369.5(TSHR):c.*1222G>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +2 more	GBenign
Select item 314714	NM_000369.5(TSHR):c.*1152T>A	TSHR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 314713	NM_000369.5(TSHR):c.*1106G>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 314712	NM_000369.5(TSHR):c.*960T>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 314711	NM_000369.5(TSHR):c.*909C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +2 more	GBenign
Select item 314710	NM_000369.5(TSHR):c.*728A>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 314709	NM_000369.5(TSHR):c.*474G>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GBenign/Likely benign
Select item 314708	NM_000369.5(TSHR):c.*431T>C	TSHR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 314707	NM_000369.5(TSHR):c.*400T>C	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314706	NM_000369.5(TSHR):c.*319G>A	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314705	NM_000369.5(TSHR):c.*245C>T	TSHR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 314704	NM_000369.5(TSHR):c.*182G>T	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GConflicting classifications of pathogenicity
Select item 314703	NM_000369.5(TSHR):c.*172C>A	TSHR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 314701	NM_000369.5(TSHR):c.*125A>G	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314700	NM_000369.5(TSHR):c.*116G>A	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314699	NM_000369.5(TSHR):c.*18C>A	TSHR	Single nucleotide variant (3 prime UTR variant)	Hypothyroidism due to TSH receptor mutations +1 more	GBenign/Likely benign
Select item 314698	NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln)	TSHR (R707Q)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +2 more	GConflicting classifications of pathogenicity
Select item 314697	NM_000369.5(TSHR):c.1290G>A (p.Leu430=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 314696	NM_000369.5(TSHR):c.1191G>T (p.Val397=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314695	NM_000369.5(TSHR):c.692+3G>A	TSHR	Single nucleotide variant (intron variant)	Hypothyroidism due to TSH receptor mutations +3 more	GConflicting classifications of pathogenicity
Select item 314694	NM_000369.5(TSHR):c.615-6C>G	TSHR	Single nucleotide variant (intron variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314693	NM_000369.5(TSHR):c.394G>C (p.Gly132Arg)	TSHR (G132R)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +5 more	GConflicting classifications of pathogenicity
Select item 314692	NM_000369.5(TSHR):c.357T>A (p.Pro119=)	TSHR	Single nucleotide variant (synonymous variant)	Familial hyperthyroidism due to mutations in TSH receptor +3 more	GConflicting classifications of pathogenicity
Select item 314691	NM_000369.5(TSHR):c.171-11T>C	TSHR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314690	NM_000369.5(TSHR):c.157A>C (p.Ser53Arg)	CEP128, TSHR (S53R)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314689	NM_000369.5(TSHR):c.-60G>A	TSHR, CEP128	Single nucleotide variant (5 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GConflicting classifications of pathogenicity
Select item 255953	NM_000369.5(TSHR):c.561T>C (p.Asn187=)	TSHR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 255952	NM_000369.5(TSHR):c.545+13A>G	TSHR	Single nucleotide variant (intron variant)	Hypothyroidism due to TSH receptor mutations +3 more	GBenign
Select item 255951	NM_000369.5(TSHR):c.1377G>A (p.Ala459=)	TSHR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 225506	NM_000369.5(TSHR):c.733G>A (p.Gly245Ser)	TSHR (G245S)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 225505	NM_000369.5(TSHR):c.1349G>A (p.Arg450His)	TSHR (R450H)	Single nucleotide variant (missense variant)	Familial gestational hyperthyroidism +4 more	GPathogenic/Likely pathogenic
Select item 218440	NM_000369.5(TSHR):c.881+3A>G	TSHR	Single nucleotide variant (intron variant)	Hypothyroidism due to TSH receptor mutations +3 more	GConflicting classifications of pathogenicity
Select item 208788	NM_000369.5(TSHR):c.1342G>A (p.Val448Ile)	TSHR (V448I)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +3 more	GConflicting classifications of pathogenicity

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