"Genome-Nilou Lab"[submitter] AND "TSHR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135392	NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)	CEP128, TSHR (P52T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
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 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 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 135403	NM_000369.5(TSHR):c.692+209C>A	TSHR (R248S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial gestational hyperthyroidism +3 more	GBenign
Select item 135400	NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)	TSHR (E727D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

ClinVar