"GeneDx"[submitter] AND "TSHB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1289439	NM_000549.5(TSHB):c.-1-268A>G	TSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256640	NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)	TSHB (T14A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 12688	NM_000549.5(TSHB):c.162+5G>A	TSHB	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1268415	NM_000549.5(TSHB):c.163-112C>G	TSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 437070	NM_000549.5(TSHB):c.373del (p.Cys125fs)	TSHB (C125fs +1 more)	Deletion (frameshift variant)	Isolated thyroid-stimulating hormone deficiency +1 more	GPathogenic

ClinVar