"ITMI"[submitter] AND "TSHR"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6430	NM_000369.5(TSHR):c.106G>C (p.Asp36His)	TSHR, CEP128 (D36H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 135391	NM_000369.5(TSHR):c.145A>G (p.Ser49Gly)	TSHR, CEP128 (S49G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 135392	NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)	CEP128, TSHR (P52T)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +4 more	GBenign
Select item 135404	NM_000369.5(TSHR):c.692+154_692+156delinsTTT	TSHR (Y251F)	Indel (missense variant +1 more)	not specified	Gnot provided
Select item 135403	NM_000369.5(TSHR):c.692+209C>A	TSHR (R248S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 135402	NM_000369.5(TSHR):c.697G>A (p.Val233Met)	TSHR (V233M)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 6456	NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)	TSHR (R310C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135401	NM_000369.5(TSHR):c.929G>A (p.Arg310His)	TSHR (R310H)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +3 more	GConflicting classifications of pathogenicity
Select item 135397	NM_000369.5(TSHR):c.1033G>A (p.Asp345Asn)	TSHR (D345N)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135398	NM_000369.5(TSHR):c.1270G>A (p.Val424Ile)	TSHR (V424I)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GUncertain significance
Select item 135394	NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)	TSHR (R534C)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +4 more	GConflicting classifications of pathogenicity
Select item 135395	NM_000369.5(TSHR):c.1721C>G (p.Thr574Ser)	TSHR (T574S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 135393	NM_000369.5(TSHR):c.1928A>G (p.Tyr643Cys)	TSHR (Y643C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135399	NM_000369.5(TSHR):c.2161G>T (p.Val721Phe)	TSHR (V721F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 135400	NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)	TSHR (E727D)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +4 more	GBenign/Likely benign
Select item 135396	NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys)	TSHR (N744K)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +3 more	GBenign/Likely benign