"THRB-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492925	NM_001354712.2(THRB):c.1358dup (p.Leu454fs)	THRB (L454fs +1 more)	Duplication (frameshift variant)	THRB-related disorder	GPathogenic
Select item 12547	NM_001354712.2(THRB):c.1324A>G (p.Met442Val)	THRB (M442V +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +2 more	GLikely pathogenic
Select item 492921	NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)	THRB (R438C +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 2630860	NM_001354712.2(THRB):c.1304A>G (p.His435Arg)	THRB (H378R +2 more)	Single nucleotide variant (missense variant)	THRB-related disorder	GLikely pathogenic
Select item 548123	NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)	THRB (R429Q +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GPathogenic
Select item 2633974	NM_001354712.2(THRB):c.1147C>A (p.Arg383Ser)	THRB (R326S +2 more)	Single nucleotide variant (missense variant)	THRB-related disorder	GUncertain significance
Select item 2632914	NM_001354712.2(THRB):c.1144+1G>T	THRB	Single nucleotide variant (splice donor variant +1 more)	THRB-related disorder	GLikely pathogenic
Select item 2636515	NM_001354712.2(THRB):c.1052A>G (p.Asp351Gly)	THRB (D320G +1 more)	Single nucleotide variant (missense variant +1 more)	THRB-related disorder	GUncertain significance
Select item 3054053	NM_001354712.2(THRB):c.1047G>A (p.Val349=)	THRB	Single nucleotide variant (synonymous variant +1 more)	THRB-related disorder	GLikely benign
Select item 2633292	NM_001354712.2(THRB):c.1030G>A (p.Gly344Arg)	THRB (G313R +1 more)	Single nucleotide variant (missense variant +1 more)	THRB-related disorder	GLikely pathogenic
Select item 12557	NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)	THRB (R320C +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +4 more	GPathogenic
Select item 3057264	NM_001354712.2(THRB):c.885+7A>T	THRB	Single nucleotide variant (intron variant)	THRB-related disorder	GLikely benign
Select item 492912	NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)	THRB (A268G +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GLikely pathogenic
Select item 2636480	NM_001354712.2(THRB):c.740C>T (p.Pro247Leu)	THRB (P216L +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder	GLikely pathogenic
Select item 12567	NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)	LOC126806630, THRB (R243W +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +2 more	GPathogenic
Select item 619920	NM_001354712.2(THRB):c.701C>T (p.Ala234Val)	LOC126806630, THRB (A234V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 344637	NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)	THRB (D71E +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 3032163	NM_001354712.2(THRB):c.199A>G (p.Ile67Val)	THRB (I36V +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder	GUncertain significance
Select item 723156	NM_001354712.2(THRB):c.175A>G (p.Ile59Val)	THRB (I28V +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +4 more	GBenign/Likely benign