ClinVar for MedGen (Select 78786) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10487621.	NM_000549.5(TSHB):c.108_109del (p.Ala37fs) GRCh37: Chr1:115576088-115576089 GRCh38: Chr1:115033467-115033468	TSHB	A37fs	Isolated thyroid-stimulating hormone deficiency	Pathogenic	no assertion criteria provided
Select item 9762592.	NM_000549.5(TSHB):c.374G>A (p.Cys125Tyr) GRCh37: Chr1:115576805 GRCh38: Chr1:115034184	TSHB	C125Y, C80Y	Isolated thyroid-stimulating hormone deficiency	Uncertain significance (Jan 14, 2020)	criteria provided, single submitter
Select item 8753223.	NM_000549.5(TSHB):c.*64T>C GRCh37: Chr1:115576912 GRCh38: Chr1:115034291	TSHB		not provided, Isolated thyroid-stimulating hormone deficiency	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 7647324.	NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) GRCh37: Chr1:115576654 GRCh38: Chr1:115034033	TSHB	R75G, R30G	Isolated thyroid-stimulating hormone deficiency, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4370705.	NM_000549.5(TSHB):c.373del (p.Cys125fs) GRCh37: Chr1:115576804 GRCh38: Chr1:115034183	TSHB	C125fs, C80fs	not provided, Isolated thyroid-stimulating hormone deficiency	Pathogenic (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2919856.	NM_000549.5(TSHB):c.256G>A (p.Gly86Arg) GRCh37: Chr1:115576687 GRCh38: Chr1:115034066	TSHB	G86R, G41R	Isolated thyroid-stimulating hormone deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 2919847.	NM_000549.5(TSHB):c.-13A>G GRCh37: Chr1:115572470 GRCh38: Chr1:115029849	TSHB		Isolated thyroid-stimulating hormone deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 2566408.	NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) GRCh37: Chr1:115576023 GRCh38: Chr1:115033402	TSHB	T14A	not specified, Congenital hypothyroidism, Isolated thyroid-stimulating hormone deficiency, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 126889.	NM_000549.5(TSHB):c.162+5G>A GRCh37: Chr1:115576150 GRCh38: Chr1:115033529	TSHB		Isolated thyroid-stimulating hormone deficiency	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 1268710.	NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) GRCh37: Chr1:115576636 GRCh38: Chr1:115034015	TSHB	Q24, Q69	TSHB-related condition, Isolated thyroid-stimulating hormone deficiency	Pathogenic/Likely pathogenic (Apr 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1268511.	NM_000549.5(TSHB):c.94G>T (p.Glu32Ter) GRCh37: Chr1:115576077 GRCh38: Chr1:115033456	TSHB	E32*	Isolated thyroid-stimulating hormone deficiency	Pathogenic (May 1, 1990)	no assertion criteria provided
Select item 1268412.	NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) GRCh37: Chr1:115576128 GRCh38: Chr1:115033507	TSHB	G49R	Isolated thyroid-stimulating hormone deficiency	Pathogenic (Aug 1, 1989)	no assertion criteria provided