"SIB Swiss Institute of Bioinformatics"[submitter] AND "TBL1X"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691491	NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)	TBL1X (R339* +1 more)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 8	GLikely pathogenic
Select item 691488	NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr)	TBL1X (N365Y +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 870340	NM_005647.4(TBL1X):c.1249G>A (p.Ala417Thr)	TBL1X (A417T +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 870341	NM_005647.4(TBL1X):c.1258T>C (p.Trp420Arg)	TBL1X (W420R +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 691489	NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)	TBL1X (H453Y +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 691490	NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)	TBL1X (Y458C +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance

ClinVar