"GeneDx"[submitter] AND "THRB"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3340413	NM_001354712.2(THRB):c.1377C>G (p.Phe459Leu)	THRB (F402L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 12564	NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)	THRB (V458A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 492924	NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala)	THRB (P453A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 439310	NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser)	THRB (P453S +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	GPathogenic
Select item 12550	NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)	THRB (P453T +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	GPathogenic
Select item 12563	NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg)	THRB (C446R +1 more)	Single nucleotide variant (missense variant)	not provided	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 12559	NM_001354712.2(THRB):c.1313G>A (p.Arg438His)	THRB (R438H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
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 12565	NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter)	THRB (C434* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2507047	NM_001354712.2(THRB):c.1292T>C (p.Ile431Thr)	THRB (I374T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1800981	NM_001354712.2(THRB):c.1145A>T (p.Asp382Val)	THRB (D351V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257669	NM_001354712.2(THRB):c.1144+9G>A	THRB	Single nucleotide variant (intron variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GBenign
Select item 453048	NM_001354712.2(THRB):c.1076C>T (p.Ser359Phe)	THRB (S359F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368403	NM_001354712.2(THRB):c.1036C>A (p.Leu346Ile)	THRB (L315I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573413	NM_001354712.2(THRB):c.1013G>A (p.Arg338Gln)	THRB (R307Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 12543	NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)	THRB (G332R +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 12553	NM_001354712.2(THRB):c.959G>A (p.Arg320His)	THRB (R320H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 12557	NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)	THRB (R320C +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +3 more	GPathogenic
Select item 12542	NM_001354712.2(THRB):c.949G>A (p.Ala317Thr)	THRB (A317T +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GPathogenic
Select item 3340414	NM_001354712.2(THRB):c.926G>A (p.Cys309Tyr)	THRB (C278Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230480	NM_001354712.2(THRB):c.886-65T>A	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245003	NM_001354712.2(THRB):c.886-245G>A	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264156	NM_001354712.2(THRB):c.885+321A>G	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 492912	NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)	THRB (A268G +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 619922	NM_001354712.2(THRB):c.790G>T (p.Val264Phe)	THRB (V264F +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 619921	NM_001354712.2(THRB):c.749T>C (p.Ile250Thr)	THRB (I250T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1279286	NM_001354712.2(THRB):c.739-259CT[15]	THRB	Microsatellite (intron variant)	not provided	GBenign
Select item 1260657	NM_001354712.2(THRB):c.739-259CT[11]	THRB	Microsatellite (intron variant)	not provided	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 1228292	NM_001354712.2(THRB):c.533-110G>A	LOC126806630, THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252534	NM_001354712.2(THRB):c.470C>A (p.Thr157Lys)	THRB (T126K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258069	NM_001354712.2(THRB):c.22+312T>G	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238078	NM_001354712.2(THRB):c.-42-241G>C	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275122	NM_001354712.2(THRB):c.-42-242C>A	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229549	NM_001354712.2(THRB):c.-42-304T>C	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151880	GRCh38/hg38 3p24.2(chr3:24295007-24410563)x1	LOC111465009, THRB	Copy number loss	See cases	GLikely pathogenic

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Items: 38