ClinVar for MedGen (Select 424846) - 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 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 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 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 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 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 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
Select item 901559	NM_001354712.2(THRB):c.*5701A>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
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 901265	NM_001354712.2(THRB):c.*368C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901264	NM_001354712.2(THRB):c.*574G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901191	NM_001354712.2(THRB):c.*1658T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901190	NM_001354712.2(THRB):c.*1861A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely benign
Select item 901189	NM_001354712.2(THRB):c.*1958G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901134	NM_001354712.2(THRB):c.*2907G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901133	NM_001354712.2(THRB):c.*2976G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901132	NM_001354712.2(THRB):c.*3047A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901131	NM_001354712.2(THRB):c.*3055G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901066	NM_001354712.2(THRB):c.*4770G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900165	NM_001354712.2(THRB):c.-229C>T	THRB	Single nucleotide variant (5 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900164	NM_001354712.2(THRB):c.11A>G (p.Asn4Ser)	THRB (N4S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900163	NM_001354712.2(THRB):c.68G>A (p.Arg23Gln)	THRB (R23Q)	Single nucleotide variant (missense variant +1 more)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely benign
Select item 900099	NM_001354712.2(THRB):c.*688T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900098	NM_001354712.2(THRB):c.*693G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900033	NM_001354712.2(THRB):c.*1960G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900032	NM_001354712.2(THRB):c.*2031A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900031	NM_001354712.2(THRB):c.*2112T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900030	NM_001354712.2(THRB):c.*2183C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899956	NM_001354712.2(THRB):c.*3155G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899955	NM_001354712.2(THRB):c.*3163A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 899954	NM_001354712.2(THRB):c.*3219G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899953	NM_001354712.2(THRB):c.*3357C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 899887	NM_001354712.2(THRB):c.*4996T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899886	NM_001354712.2(THRB):c.*5247T>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 801949	NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg)	THRB (S341R +2 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 767890	NM_001354712.2(THRB):c.1125C>T (p.Ala375=)	THRB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 723156	NM_001354712.2(THRB):c.175A>G (p.Ile59Val)	THRB (I28V +1 more)	Single nucleotide variant (missense variant)	Selective pituitary resistance to thyroid hormone +4 more	GBenign/Likely benign
Select item 548123	NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)	THRB (R429Q +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant +2 more	GPathogenic
Select item 545656	NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer)	THRB	Indel (nonsense)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 492927	NM_001354712.2(THRB):c.*4G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 492926	NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)	THRB (E460K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 492925	NM_001354712.2(THRB):c.1358dup (p.Leu454fs)	THRB (L454fs +1 more)	Duplication (frameshift variant)	THRB-related disorder	GPathogenic
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 492923	NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe)	THRB (L450F +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 492922	NM_001354712.2(THRB):c.1312del (p.Arg438fs)	THRB (R438fs +1 more)	Deletion (frameshift variant)	Thyroid hormone resistance, generalized, autosomal dominant	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 492920	NM_001354712.2(THRB):c.1293A>G (p.Ile431Met)	THRB (I431M +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 492919	NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys)	THRB (G345C +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 492918	NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu)	THRB (G344E +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 492917	NM_001354712.2(THRB):c.980C>A (p.Thr327Asn)	THRB (T327N +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 492916	NM_001354712.2(THRB):c.941C>T (p.Ser314Phe)	THRB (S314F +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	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 492914	NM_001354712.2(THRB):c.928A>G (p.Met310Val)	THRB (M310V +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GPathogenic
Select item 492913	NM_001354712.2(THRB):c.920G>A (p.Gly307Asp)	THRB (G307D +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 492912	NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)	THRB (A268G +1 more)	Single nucleotide variant (missense variant)	THRB-related disorder +2 more	GLikely pathogenic
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)	THRB, LOC126806630 (L246P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 439310	NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser)	THRB (P453S +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 437004	NM_001354712.2(THRB):c.1305T>G (p.His435Gln)	THRB (H435Q +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance syndrome +1 more	GPathogenic
Select item 429021	NM_001354712.2(THRB):c.1021C>G (p.Leu341Val)	THRB (L341V +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 397581	NM_001354712.2(THRB):c.977A>G (p.Glu326Gly)	THRB (E326G +1 more)	Single nucleotide variant (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
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 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 344642	NM_001354712.2(THRB):c.-258C>A	THRB	Single nucleotide variant (5 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344641	NM_001354712.2(THRB):c.-254G>A	THRB	Single nucleotide variant (5 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance

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