ClinVar for Gene (Select 126806630) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1228292	NM_001354712.2(THRB):c.533-110G>A	LOC126806630, THRB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 439311	NM_001354712.2(THRB):c.737T>C (p.Leu246Pro)	LOC126806630, THRB (L246P +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	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=)	LOC126806630, THRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 147469	GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3	LINC00691, LOC121725135 +34 more	Copy number gain	See cases	GUncertain significance
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 12567	NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)	LOC126806630, THRB (R243W +1 more)	Single nucleotide variant (missense variant)	THRB-related condition +2 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 22