"Eurofins Ntd Llc (ga)"[submitter] AND "THRB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12550	NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)	THRB (P453T +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	GPathogenic
Select item 193587	NM_001354712.2(THRB):c.1145-5C>T	THRB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 198422	NM_001354712.2(THRB):c.735C>T (p.Phe245=)	THRB, LOC126806630	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 592487	NM_001354712.2(THRB):c.532+8G>C	THRB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287830	NM_001354712.2(THRB):c.67C>T (p.Arg23Ter)	THRB (R23*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 497668	NM_001354712.2(THRB):c.52A>C (p.Lys18Gln)	THRB (K18Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289505	NM_001354712.2(THRB):c.1A>G (p.Met1Val)	THRB (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar