ClinVar for Gene (Select 7068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075722	NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr)	THRB (I322T +1 more)	Single nucleotide variant (missense variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 3062710	GRCh37/hg19 3p24.2(chr3:24313946-24582895)x3	THRB	Copy number gain	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062701	GRCh37/hg19 3p24.2(chr3:24459428-25169347)x3	THRB	Copy number gain	not specified	GUncertain significance
Select item 3057264	NM_001354712.2(THRB):c.885+7A>T	THRB	Single nucleotide variant (intron variant)	THRB-related disorder	GLikely benign
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 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 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 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 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 2604696	NM_001354712.2(THRB):c.1184A>G (p.Tyr395Cys)	THRB (Y395C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 specified	GUncertain significance
Select item 2573412	NM_001354712.2(THRB):c.1358C>T (p.Pro453Leu)	THRB (P396L +2 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 2539446	NM_001354712.2(THRB):c.254C>G (p.Thr85Ser)	THRB (T85S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529654	NM_001354712.2(THRB):c.31C>G (p.Leu11Val)	THRB (L11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2506200	NM_001354712.2(THRB):c.23-19G>A	THRB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2446361	NM_001354712.2(THRB):c.283+1G>A	THRB	Single nucleotide variant (splice donor variant)	Macular dystrophy	GPathogenic
Select item 2442325	NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)	THRB (P396N +2 more)	Indel (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 2356928	NM_001354712.2(THRB):c.782G>A (p.Gly261Asp)	THRB (G261D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341254	NM_001354712.2(THRB):c.171T>A (p.His57Gln)	THRB (H57Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341244	NM_001354712.2(THRB):c.172C>A (p.Leu58Ile)	THRB (L58I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316471	NM_001354712.2(THRB):c.275A>G (p.Lys92Arg)	THRB (K61R +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 1804684	NM_001354712.2(THRB):c.980C>T (p.Thr327Ile)	THRB (T296I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1705477	NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)	THRB (P395S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1683251	NM_001354712.2(THRB):c.1357_1358delinsGA (p.Pro453Asp)	THRB (P396D +2 more)	Indel (missense variant)	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 1339006	NM_001354712.2(THRB):c.1354C>A (p.Pro452Thr)	THRB (P395T +2 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 1338370	NM_001354712.2(THRB):c.830C>T (p.Thr277Ile)	THRB (T246I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1337580	NM_001354712.2(THRB):c.917A>C (p.Lys306Thr)	THRB (K275T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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	GLikely pathogenic
Select item 1284826	NM_001354712.2(THRB):c.22+16del	THRB	Deletion (intron variant)	not specified	GBenign
Select item 1284649	NM_001354712.2(THRB):c.22+4T>A	THRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1279286	NM_001354712.2(THRB):c.739-259CT[15]	THRB	Microsatellite (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 1264156	NM_001354712.2(THRB):c.885+321A>G	THRB	Single nucleotide variant (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 1258069	NM_001354712.2(THRB):c.22+312T>G	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 1238078	NM_001354712.2(THRB):c.-42-241G>C	THRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230480	NM_001354712.2(THRB):c.886-65T>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 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 1128877	NM_001354712.2(THRB):c.40T>C (p.Trp14Arg)	THRB (W14R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1088457	NM_001354712.2(THRB):c.159G>C (p.Gln53His)	THRB (Q22H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1086097	NM_001354712.2(THRB):c.161C>T (p.Ser54Leu)	THRB (S23L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 993242	NM_001354712.2(THRB):c.385-36T>C	THRB	Single nucleotide variant (intron variant)	not specified	GBenign
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 993240	NM_001354712.2(THRB):c.1287GAT[1] (p.Met430del)	THRB (M373del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
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 980627	GRCh37/hg19 3p24.2(chr3:24459954-24919200)x3	THRB	Copy number gain	not provided	GUncertain significance
Select item 903624	NM_001354712.2(THRB):c.*2445A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903559	NM_001354712.2(THRB):c.*3813G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903558	NM_001354712.2(THRB):c.*3981C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903557	NM_001354712.2(THRB):c.*4033G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903556	NM_001354712.2(THRB):c.*4033G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903555	NM_001354712.2(THRB):c.*4055C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903494	NM_001354712.2(THRB):c.*5386G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 902715	NM_001354712.2(THRB):c.283+12T>C	THRB	Single nucleotide variant (intron variant)	Thyroid hormone resistance, generalized, autosomal dominant +1 more	GLikely benign
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 902712	NM_001354712.2(THRB):c.743A>G (p.Glu248Gly)	THRB (E217G +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +1 more	GUncertain significance
Select item 902711	NM_001354712.2(THRB):c.1053C>T (p.Asp351=)	THRB	Single nucleotide variant (synonymous variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely benign
Select item 902710	NM_001354712.2(THRB):c.1078C>T (p.Leu360=)	THRB	Single nucleotide variant (synonymous variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 902648	NM_001354712.2(THRB):c.*1302A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901811	NM_001354712.2(THRB):c.1299C>T (p.Ala433=)	THRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 901810	NM_001354712.2(THRB):c.1350C>T (p.Leu450=)	THRB	Single nucleotide variant (synonymous variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901809	NM_001354712.2(THRB):c.*196G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901808	NM_001354712.2(THRB):c.*227A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901744	NM_001354712.2(THRB):c.*1372C>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely benign
Select item 901743	NM_001354712.2(THRB):c.*1443T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901742	NM_001354712.2(THRB):c.*1495G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901741	NM_001354712.2(THRB):c.*1567C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901740	NM_001354712.2(THRB):c.*1582G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901673	NM_001354712.2(THRB):c.*2534G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901672	NM_001354712.2(THRB):c.*2632C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901671	NM_001354712.2(THRB):c.*2856C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901614	NM_001354712.2(THRB):c.*4434T>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901613	NM_001354712.2(THRB):c.*4544T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901612	NM_001354712.2(THRB):c.*4714T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely benign
Select item 901560	NM_001354712.2(THRB):c.*5571G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance

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