"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492926	NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)	THRB (E460K +1 more)	Single nucleotide variant (missense variant)	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta +2 more	GPathogenic/Likely pathogenic
Select item 993241	NM_001354712.2(THRB):c.1377C>A (p.Phe459Leu)	THRB (F402L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 619919	NM_001354712.2(THRB):c.1367T>C (p.Leu456Ser)	THRB (L456S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 619918	NM_001354712.2(THRB):c.1351T>C (p.Phe451Leu)	THRB (F451L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439309	NM_001354712.2(THRB):c.1345G>T (p.Glu449Ter)	THRB (E449* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 619917	NM_001354712.2(THRB):c.1340C>T (p.Pro447Leu)	THRB (P447L +1 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 619916	NM_001354712.2(THRB):c.1335A>T (p.Glu445Asp)	THRB (E445D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 993240	NM_001354712.2(THRB):c.1287GAT[1] (p.Met430del)	THRB (M373del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 548123	NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)	THRB (R429Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 257670	NM_001354712.2(THRB):c.1251T>C (p.Phe417=)	THRB	Single nucleotide variant (synonymous variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GBenign
Select item 439308	NM_001354712.2(THRB):c.1154G>A (p.Gly385Glu)	THRB (G385E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619915	NM_001354712.2(THRB):c.1147C>T (p.Arg383Cys)	THRB (R383C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 619731	NM_001354712.2(THRB):c.1061T>G (p.Phe354Cys)	THRB (F354C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682093	NM_001354712.2(THRB):c.1045G>A (p.Val349Met)	THRB (V318M +1 more)	Single nucleotide variant (missense variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	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 12545	NM_001354712.2(THRB):c.1034G>T (p.Gly345Val)	THRB (G345V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12552	NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser)	THRB (G345S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 439307	NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys)	THRB (N343K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619730	NM_001354712.2(THRB):c.1028A>C (p.Asn343Thr)	THRB (N343T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993157	NM_001354712.2(THRB):c.1022T>C (p.Leu341Pro)	THRB (L310P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 12558	NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)	THRB (R338W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12539	NM_001354712.2(THRB):c.1010_1012del (p.Thr337del)	THRB (T337del +1 more)	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 439314	NM_001354712.2(THRB):c.998A>G (p.Glu333Gly)	THRB (E333G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330143	NM_001354712.2(THRB):c.997G>A (p.Glu333Lys)	THRB (E302K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 619923	NM_001354712.2(THRB):c.962A>G (p.Tyr321Cys)	THRB (Y321C +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 801290	NM_001354712.2(THRB):c.958C>A (p.Arg320Ser)	THRB (R289S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 993243	NM_001354712.2(THRB):c.949G>T (p.Ala317Ser)	THRB (A286S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 12555	NM_001354712.2(THRB):c.947G>A (p.Arg316His)	THRB (R316H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 492915	NM_001354712.2(THRB):c.938T>C (p.Met313Thr)	THRB (M313T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 439313	NM_001354712.2(THRB):c.937A>G (p.Met313Val)	THRB (M313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801289	NM_001354712.2(THRB):c.928A>T (p.Met310Leu)	THRB (M279L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 439312	NM_001354712.2(THRB):c.751G>C (p.Gly251Arg)	THRB (G251R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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 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 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 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 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 993242	NM_001354712.2(THRB):c.385-36T>C	THRB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 344637	NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)	THRB (D71E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 980627	GRCh37/hg19 3p24.2(chr3:24459954-24919200)x3	THRB	Copy number gain	not provided	GUncertain significance
Select item 814427	GRCh37/hg19 3p24.2(chr3:24332058-24456071)x1	THRB	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic

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Items: 60