TSHR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2644429	NM_000369.5(TSHR):c.170+35739C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277985	NM_000369.5(TSHR):c.171-80T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967210	NM_000369.5(TSHR):c.171-20T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820943	NM_000369.5(TSHR):c.171-20T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717206	NM_000369.5(TSHR):c.171-20del	TSHR	Deletion (intron variant)	not provided	GLikely benign
Select item 2784097	NM_000369.5(TSHR):c.171-13_171-12del	TSHR	Deletion (intron variant)	not provided	GLikely benign
Select item 2876321	NM_000369.5(TSHR):c.171-13G>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 314691	NM_000369.5(TSHR):c.171-11T>C	TSHR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3018283	NM_000369.5(TSHR):c.174G>A (p.Lys58=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911587	NM_000369.5(TSHR):c.183G>A (p.Glu61=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010509	NM_000369.5(TSHR):c.189C>T (p.His63=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887132	NM_000369.5(TSHR):c.190C>T (p.Leu64=)	TSHR	Single nucleotide variant (synonymous variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 730745	NM_000369.5(TSHR):c.192G>A (p.Leu64=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887133	NM_000369.5(TSHR):c.197C>A (p.Thr66Asn)	TSHR (T66N)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 2740329	NM_000369.5(TSHR):c.201T>C (p.Ile67=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437071	NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)	TSHR (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2891957	NM_000369.5(TSHR):c.210T>C (p.His70=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961621	NM_000369.5(TSHR):c.219T>G (p.Ser73=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959666	NM_000369.5(TSHR):c.219T>C (p.Ser73=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797476	NM_000369.5(TSHR):c.225G>T (p.Leu75=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908152	NM_000369.5(TSHR):c.242+12dup	TSHR	Duplication (intron variant)	not provided	GBenign
Select item 2784222	NM_000369.5(TSHR):c.242+12del	TSHR	Deletion (intron variant)	not provided	GBenign
Select item 2637387	NM_000369.5(TSHR):c.242+6T>G	TSHR	Single nucleotide variant (intron variant)	TSHR-related disorder	GUncertain significance
Select item 2805946	NM_000369.5(TSHR):c.242+15T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803416	NM_000369.5(TSHR):c.242+16A>G	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978396	NM_000369.5(TSHR):c.242+22_242+26del	TSHR	Deletion (intron variant)	not provided	GLikely benign
Select item 1289534	NM_000369.5(TSHR):c.243-158T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2992444	NM_000369.5(TSHR):c.243-20T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973149	NM_000369.5(TSHR):c.243-18T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848030	NM_000369.5(TSHR):c.243-15T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757745	NM_000369.5(TSHR):c.243-12T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972374	NM_000369.5(TSHR):c.243-4T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994757	NM_000369.5(TSHR):c.246C>T (p.Tyr82=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976146	NM_000369.5(TSHR):c.258T>C (p.Asp86=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627995	NM_000369.5(TSHR):c.263C>T (p.Thr88Ile)	TSHR (T88I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2895105	NM_000369.5(TSHR):c.264T>A (p.Thr88=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824743	NM_000369.5(TSHR):c.264T>C (p.Thr88=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420145	NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)	TSHR (Q90P)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 2757754	NM_000369.5(TSHR):c.268C>T (p.Gln90Ter)	TSHR (Q90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3336427	NM_000369.5(TSHR):c.269A>C (p.Gln90Pro)	TSHR (Q90P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2979766	NM_000369.5(TSHR):c.276G>A (p.Leu92=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826378	NM_000369.5(TSHR):c.282A>G (p.Ser94=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976556	NM_000369.5(TSHR):c.285C>T (p.His95=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445353	NM_000369.5(TSHR):c.289T>G (p.Phe97Val)	TSHR (F97V)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 3252999	NM_000369.5(TSHR):c.290T>C (p.Phe97Ser)	TSHR (F97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738381	NM_000369.5(TSHR):c.298T>C (p.Leu100=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756593	NM_000369.5(TSHR):c.303T>C (p.Ser101=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969580	NM_000369.5(TSHR):c.305_306del (p.Lys102fs)	TSHR (K102fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3021464	NM_000369.5(TSHR):c.315C>T (p.His105=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976864	NM_000369.5(TSHR):c.317+20C>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994158	NM_000369.5(TSHR):c.318-5T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008049	NM_000369.5(TSHR):c.318-1G>A	TSHR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 6438	NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)	TSHR (R109Q)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations +1 more	GPathogenic/Likely pathogenic
Select item 2445311	NM_000369.5(TSHR):c.332C>T (p.Thr111Ile)	TSHR (T111I)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2969680	NM_000369.5(TSHR):c.354C>T (p.Asp118=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 314692	NM_000369.5(TSHR):c.357T>A (p.Pro119=)	TSHR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2770243	NM_000369.5(TSHR):c.360T>C (p.Asp120=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068864	NM_000369.5(TSHR):c.372G>T (p.Glu124Asp)	TSHR (E124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3021687	NM_000369.5(TSHR):c.392+14C>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283819	NM_000369.5(TSHR):c.392+245A>G	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276401	NM_000369.5(TSHR):c.393-134G>T	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970207	NM_000369.5(TSHR):c.393-19C>G	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870572	NM_000369.5(TSHR):c.393-12dup	TSHR	Duplication (intron variant)	not provided	GBenign
Select item 2789874	NM_000369.5(TSHR):c.393-15T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709002	NM_000369.5(TSHR):c.393-14T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965719	NM_000369.5(TSHR):c.393-9T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861238	NM_000369.5(TSHR):c.393-2A>G	TSHR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 314693	NM_000369.5(TSHR):c.394G>C (p.Gly132Arg)	TSHR (G132R)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +5 more	GConflicting classifications of pathogenicity
Select item 2632279	NM_000369.5(TSHR):c.406_407del (p.Thr136fs)	TSHR (T136fs)	Microsatellite (frameshift variant)	TSHR-related disorder	GLikely pathogenic
Select item 888395	NM_000369.5(TSHR):c.406A>G (p.Thr136Ala)	TSHR (T136A)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 426336	NM_000369.5(TSHR):c.418del (p.Met140fs)	TSHR (M140fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2963391	NM_000369.5(TSHR):c.429C>T (p.Asp143=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797492	NM_000369.5(TSHR):c.435C>T (p.Thr145=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728712	NM_000369.5(TSHR):c.450T>C (p.Thr150=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 888396	NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)	TSHR (I155L)	Single nucleotide variant (missense variant)	Familial hyperthyroidism due to mutations in TSH receptor +2 more	GConflicting classifications of pathogenicity
Select item 2750015	NM_000369.5(TSHR):c.467+10C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992035	NM_000369.5(TSHR):c.467+11A>G	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827981	NM_000369.5(TSHR):c.467+12C>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790667	NM_000369.5(TSHR):c.467+15A>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798700	NM_000369.5(TSHR):c.467+18C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010262	NM_000369.5(TSHR):c.467+19C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239694	NM_000369.5(TSHR):c.468-69C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960775	NM_000369.5(TSHR):c.468-17G>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694769	NM_000369.5(TSHR):c.468-15C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822463	NM_000369.5(TSHR):c.468-14C>T	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804020	NM_000369.5(TSHR):c.468-11C>G	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966960	NM_000369.5(TSHR):c.468-8T>A	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746670	NM_000369.5(TSHR):c.468-8T>C	TSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2283090	NM_000369.5(TSHR):c.468-3C>A	TSHR	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3053994	NM_000369.5(TSHR):c.480C>A (p.Asp160Glu)	TSHR (D160E)	Single nucleotide variant (missense variant)	Familial gestational hyperthyroidism	GUncertain significance
Select item 623326	NM_000369.5(TSHR):c.484C>T (p.Pro162Ser)	TSHR (P162S)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GUncertain significance
Select item 6435	NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)	TSHR (P162A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3001370	NM_000369.5(TSHR):c.489C>T (p.Tyr163=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445351	NM_000369.5(TSHR):c.491T>A (p.Met164Lys)	TSHR (M164K)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445381	NM_000369.5(TSHR):c.494C>T (p.Thr165Met)	TSHR (T165M)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 3018999	NM_000369.5(TSHR):c.495G>A (p.Thr165=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6434	NM_000369.5(TSHR):c.500T>A (p.Ile167Asn)	TSHR (I167N)	Single nucleotide variant (missense variant)	Hypothyroidism due to TSH receptor mutations	GPathogenic
Select item 2544142	NM_000369.5(TSHR):c.523C>G (p.Leu175Val)	TSHR (L175V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343877	NM_000369.5(TSHR):c.526T>C (p.Cys176Arg)	TSHR (C176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758933	NM_000369.5(TSHR):c.528C>T (p.Cys176=)	TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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