ClinVar for MedGen (Select 1654700) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12561	NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys)	THRB (F459C +1 more)	Single nucleotide variant (missense variant)	Generalized resistance to thyroid hormone	GPathogenic
Select item 12560	NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)	THRB (L397fs +2 more)	Insertion (frameshift variant)	Generalized resistance to thyroid hormone	GPathogenic
Select item 12548	NM_001354712.2(THRB):c.1349T>A (p.Leu450His)	THRB (L450H +1 more)	Single nucleotide variant (missense variant)	Generalized resistance to thyroid hormone	GPathogenic
Select item 12544	NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp)	THRB (G345D +1 more)	Single nucleotide variant (missense variant)	Generalized resistance to thyroid hormone	GPathogenic
Select item 12541	NM_001354712.2(THRB):c.964G>C (p.Asp322His)	THRB (D322H +1 more)	Single nucleotide variant (missense variant)	Generalized resistance to thyroid hormone	GPathogenic
Select item 12540	NM_001354712.2(THRB):c.929T>C (p.Met310Thr)	THRB (M310T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar