Related gene-specific medical variations for Gene (Select 7068) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062710	GRCh37/hg19 3p24.2(chr3:24313946-24582895)x3	THRB	Copy number gain	not specified	GUncertain significance
Select item 3062701	GRCh37/hg19 3p24.2(chr3:24459428-25169347)x3	THRB	Copy number gain	not specified	GUncertain significance
Select item 2682467	NM_001354712.2(THRB):c.625G>C (p.Gly209Arg)	LOC126806630, THRB (G178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682094	NM_001354712.2(THRB):c.803C>A (p.Ala268Asp)	THRB (A237D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2682093	NM_001354712.2(THRB):c.1045G>A (p.Val349Met)	THRB (V318M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2682092	NM_001354712.2(THRB):c.1039G>T (p.Gly347Trp)	THRB (G316W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653628	NM_001354712.2(THRB):c.284-12625C>G	THRB, THRB-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2522940	NM_001354712.2(THRB):c.635C>G (p.Pro212Arg)	LOC126806630, THRB (P181R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809577	NM_001354712.2(THRB):c.1371A>C (p.Glu457Asp)	THRB (E400D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809576	NM_001354712.2(THRB):c.1336T>G (p.Cys446Gly)	THRB (C389G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228292	NM_001354712.2(THRB):c.533-110G>A	LOC126806630, THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184352	NM_001354712.2(THRB):c.-261+65743G>A	THRB	Single nucleotide variant (intron variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 1176778	NM_001354712.2(THRB):c.364A>G (p.Ile122Val)	THRB, THRB-AS2 (I122V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980627	GRCh37/hg19 3p24.2(chr3:24459954-24919200)x3	THRB	Copy number gain	not provided	GUncertain significance
Select item 902714	NM_001354712.2(THRB):c.649G>A (p.Glu217Lys)	LOC126806630, THRB (E186K +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 902713	NM_001354712.2(THRB):c.693G>A (p.Ala231=)	LOC126806630, THRB	Single nucleotide variant (synonymous variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901330	NM_001354712.2(THRB):c.-404T>C	THRB, THRB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901329	NM_001354712.2(THRB):c.-367G>A	THRB, THRB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901328	NM_001354712.2(THRB):c.-274G>T	THRB, THRB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 814427	GRCh37/hg19 3p24.2(chr3:24332058-24456071)x1	THRB	Copy number loss	not provided	GUncertain significance
Select item 801288	NM_001354712.2(THRB):c.732A>C (p.Lys244Asn)	LOC126806630, THRB (K244N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 686545	GRCh37/hg19 3p24.2(chr3:24500702-24615559)x3	THRB	Copy number gain	not provided	GUncertain significance
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 492911	NM_001354712.2(THRB):c.727C>G (p.Arg243Gly)	THRB, LOC126806630 (R243G +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 492910	NM_001354712.2(THRB):c.700G>C (p.Ala234Pro)	LOC126806630, THRB (A234P +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 492909	NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup)	LOC126806630, THRB	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 439311	NM_001354712.2(THRB):c.737T>C (p.Leu246Pro)	THRB, LOC126806630 (L246P +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	GUncertain significance
Select item 375302	NM_001354712.2(THRB):c.1351T>G (p.Phe451Val)	THRB (F451V +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 344645	NM_001354712.2(THRB):c.-393T>C	THRB-AS1, THRB	Single nucleotide variant (5 prime UTR variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344644	NM_001354712.2(THRB):c.-385GA[1]	THRB, THRB-AS1	Microsatellite (5 prime UTR variant +1 more)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344643	NM_001354712.2(THRB):c.-261+5G>C	THRB, THRB-AS1	Single nucleotide variant (intron variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344636	NM_001354712.2(THRB):c.648C>T (p.Asp216=)	LOC126806630, THRB	Single nucleotide variant (synonymous variant)	Thyroid hormone resistance syndrome	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 12567	NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)	THRB, LOC126806630 (R243W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12566	NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)	LOC126806630, THRB (R243Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 12556	L325F	THRB	Variation	Selective pituitary resistance to thyroid hormone	GPathogenic
Select item 12554	NM_001354712.2(THRB):c.700G>A (p.Ala234Thr)	LOC126806630, THRB (A234T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12538	NG_009159.1:g.(?_270821)_(382671_?)del	THRB	Deletion	Thyroid hormone resistance, generalized, autosomal recessive	GPathogenic

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Links from Gene

Items: 38