NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)Pathogenic
Hypothyroidism due to TSH receptor mutations|not provided|Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations|Familial gestational hyperthyroidism
★★☆☆2026→ Residue 162
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)Pathogenic
Hypothyroidism due to TSH receptor mutations|not provided|Inborn genetic diseases|TSHR-related disorder|Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations|Congenital hypothyroidism
★★☆☆2025→ Residue 546
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)Pathogenic
Hypothyroidism due to TSH receptor mutations|Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations|not provided|Congenital hypothyroidism
★★☆☆2025→ Residue 390
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)Pathogenic
not provided|Hypothyroidism due to TSH receptor mutations|Congenital hypothyroidism|Ovarian cancer|Familial gestational hyperthyroidism|Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor
★★☆☆2025→ Residue 450
NM_000369.5(TSHR):c.881+1G>APathogenic
not provided
★★☆☆2025
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg)Likely pathogenic
not provided|Hypothyroidism due to TSH receptor mutations
★★☆☆2025→ Residue 488
NM_000369.5(TSHR):c.87C>A (p.Cys29Ter)Pathogenic
not provided
★★☆☆2025→ Residue 29
NM_000369.5(TSHR):c.1839C>G (p.Tyr613Ter)Pathogenic
not provided
★★☆☆2025→ Residue 613
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)Pathogenic
not provided|Hypothyroidism due to TSH receptor mutations|Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism
★★☆☆2025→ Residue 655
NM_000369.5(TSHR):c.1556G>A (p.Arg519His)Pathogenic
Hypothyroidism due to TSH receptor mutations|not provided|Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor
★★☆☆2025→ Residue 519
NM_000369.5(TSHR):c.1555C>T (p.Arg519Cys)Pathogenic
not provided|Hypothyroidism due to TSH receptor mutations
★★☆☆2024→ Residue 519
NM_000369.5(TSHR):c.879_880del (p.Gly294fs)Pathogenic
not provided
★★☆☆2024→ Residue 294
NM_000369.5(TSHR):c.1957C>G (p.Leu653Val)Pathogenic
not provided|Hypothyroidism due to TSH receptor mutations
★★☆☆2024→ Residue 653
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)Pathogenic
Hypothyroidism due to TSH receptor mutations|not provided|Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations
★★☆☆2024→ Residue 109
NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)Pathogenic
Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor|not provided
★★☆☆2024→ Residue 489
NM_000369.5(TSHR):c.801_810del (p.Leu267fs)Pathogenic
not provided|Familial hyperthyroidism due to mutations in TSH receptor;Familial gestational hyperthyroidism;Hypothyroidism due to TSH receptor mutations
★★☆☆2024→ Residue 267
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)Likely pathogenic
not provided|TSHR-related disorder|Familial hyperthyroidism due to mutations in TSH receptor;Familial gestational hyperthyroidism;Hypothyroidism due to TSH receptor mutations
★★☆☆2024→ Residue 90
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)Pathogenic
Hypothyroidism due to TSH receptor mutations|Inborn genetic diseases|TSHR-related disorder|not provided|Familial gestational hyperthyroidism|Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations
★★☆☆2024→ Residue 553
NM_000369.5(TSHR):c.1516G>T (p.Glu506Ter)Pathogenic
not provided
★★☆☆2024→ Residue 506
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg)Likely pathogenic
not provided|Ovarian cancer|TSHR-related disorder|Familial gestational hyperthyroidism|Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor
★★☆☆2024→ Residue 132