ClinVar for MedGen (Select 483749) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 723156	NM_001354712.2(THRB):c.175A>G (p.Ile59Val)	THRB (I28V +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +4 more	GBenign/Likely benign
Select item 492912	NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)	THRB (A268G +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +2 more	GLikely pathogenic
Select item 12566	NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)	LOC126806630, THRB (R243Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 12557	NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)	THRB (R320C +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +4 more	GPathogenic
Select item 12539	NM_001354712.2(THRB):c.1010_1012del (p.Thr337del)	THRB (T337del +1 more)	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 12538	NG_009159.1:g.(?_270821)_(382671_?)del	THRB	Deletion	Thyroid hormone resistance, generalized, autosomal recessive	GPathogenic

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