ClinVar for MedGen (Select 487729) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25723121.	NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn) GRCh37: Chr14:81609609 GRCh38: Chr14:81143265	TSHR	D403N	Hypothyroidism due to TSH receptor mutations	Likely pathogenic (Jun 29, 2023)	criteria provided, single submitter
Select item 16873842.	NM_000369.5(TSHR):c.1777del (p.Ala593fs) GRCh37: Chr14:81610179 GRCh38: Chr14:81143835	TSHR	A593fs	Hypothyroidism due to TSH receptor mutations	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 13428553.	NM_000369.5(TSHR):c.692+48T>A GRCh37: Chr14:81574844 GRCh38: Chr14:81108500	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 13035484.	NM_000369.5(TSHR):c.170T>C (p.Leu57Pro) GRCh37: Chr14:81422194 GRCh38: Chr14:80955850	CEP128, TSHR	L57P	not provided, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12844915.	NM_000369.5(TSHR):c.692+163A>G GRCh37: Chr14:81574959 GRCh38: Chr14:81108615	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12044356.	NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) GRCh37: Chr14:81610364-81610365 GRCh38: Chr14:81144020-81144021	TSHR	T655fs	Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor, not provided	Pathogenic/Likely pathogenic (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9178617.	NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe) GRCh37: Chr14:81610362 GRCh38: Chr14:81144018	TSHR	I654F	Hypothyroidism due to TSH receptor mutations	Likely pathogenic (May 14, 2020)	no assertion criteria provided
Select item 9178588.	NM_000369.5(TSHR):c.545+5G>T GRCh37: Chr14:81558957 GRCh38: Chr14:81092613	TSHR		Hypothyroidism due to TSH receptor mutations	Pathogenic (May 14, 2020)	no assertion criteria provided
Select item 8885179.	NM_000369.5(TSHR):c.2034T>C (p.Tyr678=) GRCh37: Chr14:81610436 GRCh38: Chr14:81144092	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 88851610.	NM_000369.5(TSHR):c.1971C>T (p.Ser657=) GRCh37: Chr14:81610373 GRCh38: Chr14:81144029	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 88839611.	NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) GRCh37: Chr14:81557483 GRCh38: Chr14:81091139	TSHR	I155L	not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 88839512.	NM_000369.5(TSHR):c.406A>G (p.Thr136Ala) GRCh37: Chr14:81557426 GRCh38: Chr14:81091082	TSHR	T136A	Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Jul 20, 2017)	criteria provided, single submitter
Select item 88757013.	NM_000369.5(TSHR):c.*1486C>T GRCh37: Chr14:81612183 GRCh38: Chr14:81145839	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88750414.	NM_000369.5(TSHR):c.*249A>C GRCh37: Chr14:81610946 GRCh38: Chr14:81144602	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 88737415.	NM_000369.5(TSHR):c.*1262C>T GRCh37: Chr14:81611959 GRCh38: Chr14:81145615	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88731716.	NM_000369.5(TSHR):c.*242C>T GRCh37: Chr14:81610939 GRCh38: Chr14:81144595	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88725617.	NM_000369.5(TSHR):c.1656C>T (p.Leu552=) GRCh37: Chr14:81610058 GRCh38: Chr14:81143714	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (May 2, 2017)	criteria provided, conflicting interpretations
Select item 88725518.	NM_000369.5(TSHR):c.1621A>G (p.Ile541Val) GRCh37: Chr14:81610023 GRCh38: Chr14:81143679	TSHR	I541V	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (May 10, 2017)	criteria provided, conflicting interpretations
Select item 88725419.	NM_000369.5(TSHR):c.1583G>A (p.Arg528His) GRCh37: Chr14:81609985 GRCh38: Chr14:81143641	TSHR	R528H	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88719920.	NM_000369.5(TSHR):c.915T>A (p.Ser305Arg) GRCh37: Chr14:81609317 GRCh38: Chr14:81142973	TSHR	S305R	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, not provided	Conflicting interpretations of pathogenicity (Jun 21, 2022)	criteria provided, conflicting interpretations
Select item 88719821.	NM_000369.5(TSHR):c.891G>A (p.Glu297=) GRCh37: Chr14:81609293 GRCh38: Chr14:81142949	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 88713322.	NM_000369.5(TSHR):c.197C>A (p.Thr66Asn) GRCh37: Chr14:81528518 GRCh38: Chr14:81062174	TSHR	T66N	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88713223.	NM_000369.5(TSHR):c.190C>T (p.Leu64=) GRCh37: Chr14:81528511 GRCh38: Chr14:81062167	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88638024.	NM_000369.5(TSHR):c.*1053T>C GRCh37: Chr14:81611750 GRCh38: Chr14:81145406	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88632525.	NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser) GRCh37: Chr14:81610659 GRCh38: Chr14:81144315	TSHR	G753S	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88625526.	NM_000369.5(TSHR):c.1556G>A (p.Arg519His) GRCh37: Chr14:81609958 GRCh38: Chr14:81143614	TSHR	R519H	not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Apr 21, 2022)	criteria provided, conflicting interpretations
Select item 88625427.	NM_000369.5(TSHR):c.1479G>A (p.Gly493=) GRCh37: Chr14:81609881 GRCh38: Chr14:81143537	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88619128.	NM_000369.5(TSHR):c.758T>C (p.Ile253Thr) GRCh37: Chr14:81606088 GRCh38: Chr14:81139744	TSHR	I253T	Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88619029.	NM_000369.5(TSHR):c.756G>C (p.Leu252=) GRCh37: Chr14:81606086 GRCh38: Chr14:81139742	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88612530.	NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) GRCh37: Chr14:81422124 GRCh38: Chr14:80955780	TSHR, CEP128	E34K	not specified, not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 4, 2023)	criteria provided, conflicting interpretations
Select item 88535331.	NM_000369.5(TSHR):c.*1845T>G GRCh37: Chr14:81612542 GRCh38: Chr14:81146198	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88535232.	NM_000369.5(TSHR):c.*1807T>A GRCh37: Chr14:81612504 GRCh38: Chr14:81146160	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 88528733.	NM_000369.5(TSHR):c.611C>T (p.Ala204Val) GRCh37: Chr14:81563048 GRCh38: Chr14:81096704	TSHR	A204V	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (May 2, 2017)	criteria provided, conflicting interpretations
Select item 88522834.	NM_000369.2(TSHR):c.-102C>T GRCh37: Chr14:81421923 GRCh38: Chr14:80955579	CEP128, TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88522735.	NM_000369.2(TSHR):c.-166C>T GRCh37: Chr14:81421859 GRCh38: Chr14:80955515	CEP128, TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88442036.	NM_000369.5(TSHR):c.*1559C>T GRCh37: Chr14:81612256 GRCh38: Chr14:81145912	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88441937.	NM_000369.5(TSHR):c.*1496A>G GRCh37: Chr14:81612193 GRCh38: Chr14:81145849	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88435538.	NM_000369.5(TSHR):c.*458G>T GRCh37: Chr14:81611155 GRCh38: Chr14:81144811	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88429639.	NM_000369.5(TSHR):c.2154T>C (p.Asp718=) GRCh37: Chr14:81610556 GRCh38: Chr14:81144212	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88422340.	NM_000369.5(TSHR):c.1341C>T (p.Asn447=) GRCh37: Chr14:81609743 GRCh38: Chr14:81143399	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 88422241.	NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg) GRCh37: Chr14:81609624 GRCh38: Chr14:81143280	TSHR	C408R	not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Sep 9, 2019)	criteria provided, multiple submitters, no conflicts
Select item 74509142.	NM_000369.5(TSHR):c.1206C>T (p.Ser402=) GRCh37: Chr14:81609608 GRCh38: Chr14:81143264	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, not provided	Conflicting interpretations of pathogenicity (May 12, 2018)	criteria provided, conflicting interpretations
Select item 73312843.	NM_001555.5(IGSF1):c.668-8G>A GRCh37: ChrX:130417246 GRCh38: ChrX:131283272	IGSF1		Hypothyroidism due to TSH receptor mutations, not provided	Benign/Likely benign (May 8, 2020)	criteria provided, multiple submitters, no conflicts
Select item 72677644.	NM_000369.5(TSHR):c.765A>G (p.Arg255=) GRCh37: Chr14:81606095 GRCh38: Chr14:81139751	TSHR		not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Feb 9, 2018)	criteria provided, conflicting interpretations
Select item 70650645.	NM_000369.5(TSHR):c.735C>G (p.Gly245=) GRCh37: Chr14:81606065 GRCh38: Chr14:81139721	TSHR		not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 62332646.	NM_000369.5(TSHR):c.484C>T (p.Pro162Ser) GRCh37: Chr14:81558891 GRCh38: Chr14:81092547	TSHR	P162S	Hypothyroidism due to TSH receptor mutations	Uncertain significance (Dec 30, 2017)	criteria provided, single submitter
Select item 43707147.	NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) GRCh37: Chr14:81528523 GRCh38: Chr14:81062179	TSHR	P68S	Inborn genetic diseases, not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Apr 21, 2023)	criteria provided, conflicting interpretations
Select item 42633648.	NM_000369.5(TSHR):c.418del (p.Met140fs) GRCh37: Chr14:81557435 GRCh38: Chr14:81091091	TSHR	M140fs	not provided, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Likely pathogenic (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40357149.	NM_000369.5(TSHR):c.692+49T>C GRCh37: Chr14:81574845 GRCh38: Chr14:81108501	TSHR		not specified, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism	Benign/Likely benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33131050.	NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) GRCh37: Chr2:1459885 GRCh38: Chr2:1456113	TPO	N217S	TPO-related condition, Hypothyroidism due to TSH receptor mutations, Deficiency of iodide peroxidase	Uncertain significance (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31472651.	NM_000369.5(TSHR):c.*1946C>T GRCh37: Chr14:81612643 GRCh38: Chr14:81146299	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31472552.	NM_000369.5(TSHR):c.*1898A>G GRCh37: Chr14:81612595 GRCh38: Chr14:81146251	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31472453.	NM_000369.5(TSHR):c.*1813T>A GRCh37: Chr14:81612510 GRCh38: Chr14:81146166	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31472254.	NM_000369.5(TSHR):c.*1695T>C GRCh37: Chr14:81612392 GRCh38: Chr14:81146048	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31472155.	NM_000369.5(TSHR):c.*1620C>G GRCh37: Chr14:81612317 GRCh38: Chr14:81145973	TSHR		Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31472056.	NM_000369.5(TSHR):c.*1580A>G GRCh37: Chr14:81612277 GRCh38: Chr14:81145933	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31471957.	NM_000369.5(TSHR):c.*1417T>C GRCh37: Chr14:81612114 GRCh38: Chr14:81145770	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31471858.	NM_000369.5(TSHR):c.*1317C>A GRCh37: Chr14:81612014 GRCh38: Chr14:81145670	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31471759.	NM_000369.5(TSHR):c.*1289A>G GRCh37: Chr14:81611986 GRCh38: Chr14:81145642	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31471660.	NM_000369.5(TSHR):c.*1222G>C GRCh37: Chr14:81611919 GRCh38: Chr14:81145575	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31471461.	NM_000369.5(TSHR):c.*1152T>A GRCh37: Chr14:81611849 GRCh38: Chr14:81145505	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31471362.	NM_000369.5(TSHR):c.*1106G>T GRCh37: Chr14:81611803 GRCh38: Chr14:81145459	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31471263.	NM_000369.5(TSHR):c.*960T>C GRCh37: Chr14:81611657 GRCh38: Chr14:81145313	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31471164.	NM_000369.5(TSHR):c.*909C>T GRCh37: Chr14:81611606 GRCh38: Chr14:81145262	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31471065.	NM_000369.5(TSHR):c.*728A>G GRCh37: Chr14:81611425 GRCh38: Chr14:81145081	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31470966.	NM_000369.5(TSHR):c.*474G>T GRCh37: Chr14:81611171 GRCh38: Chr14:81144827	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31470867.	NM_000369.5(TSHR):c.*431T>C GRCh37: Chr14:81611128 GRCh38: Chr14:81144784	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31470768.	NM_000369.5(TSHR):c.*400T>C GRCh37: Chr14:81611097 GRCh38: Chr14:81144753	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31470669.	NM_000369.5(TSHR):c.*319G>A GRCh37: Chr14:81611016 GRCh38: Chr14:81144672	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31470570.	NM_000369.5(TSHR):c.*245C>T GRCh37: Chr14:81610942 GRCh38: Chr14:81144598	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, not provided	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31470471.	NM_000369.5(TSHR):c.*182G>T GRCh37: Chr14:81610879 GRCh38: Chr14:81144535	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31470372.	NM_000369.5(TSHR):c.*172C>A GRCh37: Chr14:81610869 GRCh38: Chr14:81144525	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31470173.	NM_000369.5(TSHR):c.*125A>G GRCh37: Chr14:81610822 GRCh38: Chr14:81144478	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31470074.	NM_000369.5(TSHR):c.*116G>A GRCh37: Chr14:81610813 GRCh38: Chr14:81144469	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31469975.	NM_000369.5(TSHR):c.*18C>A GRCh37: Chr14:81610715 GRCh38: Chr14:81144371	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31469876.	NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln) GRCh37: Chr14:81610522 GRCh38: Chr14:81144178	TSHR	R707Q	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, not specified	Conflicting interpretations of pathogenicity (Oct 26, 2023)	criteria provided, conflicting interpretations
Select item 31469777.	NM_000369.5(TSHR):c.1290G>A (p.Leu430=) GRCh37: Chr14:81609692 GRCh38: Chr14:81143348	TSHR		Hypothyroidism due to TSH receptor mutations, not provided, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 31469678.	NM_000369.5(TSHR):c.1191G>T (p.Val397=) GRCh37: Chr14:81609593 GRCh38: Chr14:81143249	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31469579.	NM_000369.5(TSHR):c.692+3G>A GRCh37: Chr14:81574799 GRCh38: Chr14:81108455	TSHR		not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 31469480.	NM_000369.5(TSHR):c.615-6C>G GRCh37: Chr14:81574713 GRCh38: Chr14:81108369	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31469381.	NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) GRCh37: Chr14:81557414 GRCh38: Chr14:81091070	TSHR	G132R	Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, TSHR-Related Disorders, Ovarian cancer, not provided	Conflicting interpretations of pathogenicity (Jan 1, 2022)	criteria provided, conflicting interpretations
Select item 31469282.	NM_000369.5(TSHR):c.357T>A (p.Pro119=) GRCh37: Chr14:81554337 GRCh38: Chr14:81087993	TSHR		not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, not specified	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 31469183.	NM_000369.5(TSHR):c.171-11T>C GRCh37: Chr14:81528481 GRCh38: Chr14:81062137	TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31469084.	NM_000369.5(TSHR):c.157A>C (p.Ser53Arg) GRCh37: Chr14:81422181 GRCh38: Chr14:80955837	CEP128, TSHR	S53R	Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31468985.	NM_000369.5(TSHR):c.-60G>A GRCh37: Chr14:81421965 GRCh38: Chr14:80955621	CEP128, TSHR		Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 25595386.	NM_000369.5(TSHR):c.561T>C (p.Asn187=) GRCh37: Chr14:81562998 GRCh38: Chr14:81096654	TSHR		not specified, not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25595287.	NM_000369.5(TSHR):c.545+13A>G GRCh37: Chr14:81558965 GRCh38: Chr14:81092621	TSHR		not specified, not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25595188.	NM_000369.5(TSHR):c.1377G>A (p.Ala459=) GRCh37: Chr14:81609779 GRCh38: Chr14:81143435	TSHR		not specified, Hypothyroidism due to TSH receptor mutations, not provided, Familial hyperthyroidism due to mutations in TSH receptor	Benign/Likely benign (Mar 19, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22550689.	NM_000369.5(TSHR):c.733G>A (p.Gly245Ser) GRCh37: Chr14:81606063 GRCh38: Chr14:81139719	TSHR	G245S	not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (May 18, 2020)	criteria provided, conflicting interpretations
Select item 22550590.	NM_000369.5(TSHR):c.1349G>A (p.Arg450His) GRCh37: Chr14:81609751 GRCh38: Chr14:81143407	TSHR	R450H	not provided, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Ovarian cancer, Congenital hypothyroidism	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 21844091.	NM_000369.5(TSHR):c.881+3A>G GRCh37: Chr14:81606214 GRCh38: Chr14:81139870	TSHR		not provided, not specified, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Jun 4, 2020)	criteria provided, conflicting interpretations
Select item 20878892.	NM_000369.5(TSHR):c.1342G>A (p.Val448Ile) GRCh37: Chr14:81609744 GRCh38: Chr14:81143400	TSHR	V448I	Inborn genetic diseases, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 18924993.	NM_000369.5(TSHR):c.545+2_545+3del GRCh37: Chr14:81558952-81558953 GRCh38: Chr14:81092608-81092609	TSHR		Hypothyroidism due to TSH receptor mutations	Likely pathogenic (Apr 18, 2014)	criteria provided, single submitter
Select item 13540394.	NM_000369.5(TSHR):c.692+209C>A GRCh37: Chr14:81575005 GRCh38: Chr14:81108661	TSHR	R248S, R269S	not provided, Familial gestational hyperthyroidism, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13540195.	NM_000369.5(TSHR):c.929G>A (p.Arg310His) GRCh37: Chr14:81609331 GRCh38: Chr14:81142987	TSHR	R310H	not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 13540096.	NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) GRCh37: Chr14:81610583 GRCh38: Chr14:81144239	TSHR	E727D	not provided, not specified, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Benign/Likely benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13539997.	NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) GRCh37: Chr14:81610563 GRCh38: Chr14:81144219	TSHR	V721F	not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 13539898.	NM_000369.5(TSHR):c.1270G>A (p.Val424Ile) GRCh37: Chr14:81609672 GRCh38: Chr14:81143328	TSHR	V424I	Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Uncertain significance (Mar 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13539699.	NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys) GRCh37: Chr14:81610634 GRCh38: Chr14:81144290	TSHR	N744K	not provided, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 135394100.	NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) GRCh37: Chr14:81610002 GRCh38: Chr14:81143658	TSHR	R534C	not specified, not provided, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations

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