ClinVar for Gene (Select 6915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363408	NM_001060.6(TBXA2R):c.133G>T (p.Ala45Ser)	TBXA2R (A45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362146	NM_001060.6(TBXA2R):c.683_684insCCACCCTGTGCCACGG (p.Gln229fs)	TBXA2R (Q229fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3356766	NM_001060.6(TBXA2R):c.*715C>T	TBXA2R (R363*)	Single nucleotide variant (3 prime UTR variant +1 more)	TBXA2R-related disorder	GUncertain significance
Select item 3356145	NM_001060.6(TBXA2R):c.*715C>G	TBXA2R (R363G)	Single nucleotide variant (3 prime UTR variant +1 more)	TBXA2R-related disorder	GUncertain significance
Select item 3354230	NM_001060.6(TBXA2R):c.*751C>T	TBXA2R (R375W)	Single nucleotide variant (3 prime UTR variant +1 more)	TBXA2R-related disorder	GLikely benign
Select item 3340837	NM_001060.6(TBXA2R):c.892A>T (p.Thr298Ser)	TBXA2R (T298S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339240	NM_001060.6(TBXA2R):c.*817C>T	TBXA2R (P397S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3324894	NM_001060.6(TBXA2R):c.763A>G (p.Ser255Gly)	TBXA2R (S255G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324893	NM_001060.6(TBXA2R):c.940G>A (p.Ala314Thr)	TBXA2R (A314T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324892	NM_001060.6(TBXA2R):c.68G>C (p.Arg23Pro)	TBXA2R (R23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324891	NM_001060.6(TBXA2R):c.988C>A (p.Leu330Met)	TBXA2R (L330M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3242661	NC_000019.9:g.(?_3595522)_(3595951_?)del	TBXA2R	Deletion	not provided	GUncertain significance
Select item 3242660	NC_000019.9:g.(?_3595522)_(3600632_?)del	TBXA2R	Deletion	not provided	GUncertain significance
Select item 3174988	NM_001060.6(TBXA2R):c.279C>G (p.Phe93Leu)	TBXA2R (F93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174987	NM_001060.6(TBXA2R):c.167G>C (p.Gly56Ala)	TBXA2R (G56A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068923	NM_001060.6(TBXA2R):c.43A>G (p.Thr15Ala)	TBXA2R (T15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044020	NM_001060.6(TBXA2R):c.*846G>C	TBXA2R (K406N)	Single nucleotide variant (3 prime UTR variant +1 more)	TBXA2R-related disorder	GLikely benign
Select item 3042652	NM_001060.6(TBXA2R):c.-6G>A	TBXA2R	Single nucleotide variant (5 prime UTR variant)	TBXA2R-related disorder	GLikely benign
Select item 3040933	NM_001060.6(TBXA2R):c.*4G>T	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	TBXA2R-related disorder	GLikely benign
Select item 3029522	NM_001060.6(TBXA2R):c.504G>C (p.Leu168=)	TBXA2R	Single nucleotide variant (synonymous variant)	TBXA2R-related disorder	GLikely benign
Select item 3019619	NM_001060.6(TBXA2R):c.1028A>G (p.Gln343Arg)	TBXA2R (Q343R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3013137	NM_001060.6(TBXA2R):c.288C>T (p.His96=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011566	NM_001060.6(TBXA2R):c.995T>C (p.Leu332Pro)	TBXA2R (L332P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010369	NM_001060.6(TBXA2R):c.419G>A (p.Arg140His)	TBXA2R (R140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002182	NM_001060.6(TBXA2R):c.796G>A (p.Ala266Thr)	TBXA2R (A266T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000765	NM_001060.6(TBXA2R):c.8C>T (p.Pro3Leu)	TBXA2R (P3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990297	NM_001060.6(TBXA2R):c.823G>C (p.Ala275Pro)	TBXA2R (A275P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986174	NM_001060.6(TBXA2R):c.270C>T (p.Ala90=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981731	NM_001060.6(TBXA2R):c.934C>T (p.Arg312Cys)	TBXA2R (R312C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981527	NM_001060.6(TBXA2R):c.857C>T (p.Thr286Met)	TBXA2R (T286M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978231	NM_001060.6(TBXA2R):c.744G>T (p.Leu248=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975613	NM_001060.6(TBXA2R):c.834C>T (p.Pro278=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967812	NM_001060.6(TBXA2R):c.786+18G>A	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967035	NM_001060.6(TBXA2R):c.949C>T (p.Arg317Trp)	TBXA2R (R317W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964536	NM_001060.6(TBXA2R):c.717C>T (p.Ser239=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964380	NM_001060.6(TBXA2R):c.567C>A (p.Ala189=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961702	NM_001060.6(TBXA2R):c.882G>A (p.Leu294=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961401	NM_001060.6(TBXA2R):c.835G>A (p.Ala279Thr)	TBXA2R (A279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2957325	NM_001060.6(TBXA2R):c.280_282del (p.Glu94del)	TBXA2R (E94del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2899397	NM_001060.6(TBXA2R):c.59A>C (p.Glu20Ala)	TBXA2R (E20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896099	NM_001060.6(TBXA2R):c.513G>A (p.Val171=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891828	NM_001060.6(TBXA2R):c.568G>A (p.Glu190Lys)	TBXA2R (E190K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891088	NM_001060.6(TBXA2R):c.747G>A (p.Gly249=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887169	NM_001060.6(TBXA2R):c.810G>T (p.Leu270=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878991	NM_001060.6(TBXA2R):c.189C>A (p.Phe63Leu)	TBXA2R (F63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872631	NM_001060.6(TBXA2R):c.478G>T (p.Ala160Ser)	TBXA2R (A160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871004	NM_001060.6(TBXA2R):c.280G>A (p.Glu94Lys)	TBXA2R (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848286	NM_001060.6(TBXA2R):c.195C>T (p.Thr65=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811438	NM_001060.6(TBXA2R):c.189C>G (p.Phe63Leu)	TBXA2R (F63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787964	NM_001060.6(TBXA2R):c.811C>T (p.Arg271Ter)	TBXA2R (R271*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2786124	NM_001060.6(TBXA2R):c.552C>T (p.Phe184=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779524	NM_001060.6(TBXA2R):c.616_618del (p.Leu206del)	TBXA2R (L206del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2773265	NM_001060.6(TBXA2R):c.735T>A (p.Ala245=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771335	NM_001060.6(TBXA2R):c.274C>T (p.Leu92Phe)	TBXA2R (L92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750555	NM_001060.6(TBXA2R):c.38G>A (p.Arg13Gln)	TBXA2R (R13Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747808	NM_001060.6(TBXA2R):c.787-14T>C	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743118	NM_001060.6(TBXA2R):c.787-9C>T	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733041	NM_001060.6(TBXA2R):c.163G>T (p.Gly55Trp)	TBXA2R (G55W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723060	NM_001060.6(TBXA2R):c.153C>T (p.Gly51=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720652	NM_001060.6(TBXA2R):c.105C>T (p.Cys35=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715070	NM_001060.6(TBXA2R):c.157C>T (p.Arg53Trp)	TBXA2R (R53W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706092	NM_001060.6(TBXA2R):c.762C>A (p.Ala254=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2693822	NM_001060.6(TBXA2R):c.120C>T (p.Ala40=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691629	NM_001060.6(TBXA2R):c.186C>A (p.Ser62=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2682364	NM_001060.6(TBXA2R):c.*841A>G	TBXA2R (R405G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2681578	NM_001060.6(TBXA2R):c.*738A>G	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2634023	NM_001060.6(TBXA2R):c.370GCC[1] (p.Ala125del)	TBXA2R (A125del)	Microsatellite (inframe_deletion)	TBXA2R-related disorder	GUncertain significance
Select item 2609415	NM_001060.6(TBXA2R):c.141C>G (p.Ser47Arg)	TBXA2R (S47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599189	NM_001060.6(TBXA2R):c.838G>A (p.Gly280Arg)	TBXA2R (G280R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582965	NM_001060.6(TBXA2R):c.*28C>T	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2553118	NM_001060.6(TBXA2R):c.67C>G (p.Arg23Gly)	TBXA2R (R23G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539139	NM_001060.6(TBXA2R):c.622G>A (p.Val208Ile)	TBXA2R (V208I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2520851	NM_001060.6(TBXA2R):c.937C>T (p.Arg313Cys)	TBXA2R (R313C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504693	NM_001060.6(TBXA2R):c.1010C>A (p.Thr337Lys)	TBXA2R (T337K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2489070	NM_001060.6(TBXA2R):c.703C>T (p.Arg235Cys)	TBXA2R (R235C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482811	NM_001060.6(TBXA2R):c.850C>T (p.Arg284Cys)	TBXA2R (R284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471154	NM_001060.6(TBXA2R):c.328G>A (p.Val110Ile)	TBXA2R (V110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423589	NC_000019.9:g.(?_3585596)_(3607681_?)dup	GIPC3, TBXA2R	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2413756	NM_001060.6(TBXA2R):c.953G>A (p.Arg318His)	TBXA2R (R318H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392473	NM_001060.6(TBXA2R):c.53C>T (p.Thr18Ile)	TBXA2R (T18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389230	NM_001060.6(TBXA2R):c.1015C>T (p.Arg339Cys)	TBXA2R (R339C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2384636	NM_001060.6(TBXA2R):c.211G>A (p.Val71Ile)	TBXA2R (V71I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2293502	NM_001060.6(TBXA2R):c.514G>A (p.Gly172Ser)	TBXA2R (G172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286511	NM_001060.6(TBXA2R):c.442C>T (p.Arg148Cys)	TBXA2R (R148C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278216	NM_001060.6(TBXA2R):c.391T>C (p.Tyr131His)	TBXA2R (Y131H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275104	NM_001060.6(TBXA2R):c.125A>T (p.Asn42Ile)	TBXA2R (N42I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261605	NM_001060.6(TBXA2R):c.131T>A (p.Leu44Gln)	TBXA2R (L44Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188678	NM_001060.6(TBXA2R):c.669C>T (p.Cys223=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2149692	NM_001060.6(TBXA2R):c.999G>T (p.Gln333His)	TBXA2R (Q333H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2128719	NM_001060.6(TBXA2R):c.806T>A (p.Val269Glu)	TBXA2R (V269E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123875	NM_001060.6(TBXA2R):c.917G>A (p.Trp306Ter)	TBXA2R (W306*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2122445	NM_001060.6(TBXA2R):c.831C>T (p.Ser277=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085035	NM_001060.6(TBXA2R):c.424G>A (p.Ala142Thr)	TBXA2R (A142T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2071609	NM_001060.6(TBXA2R):c.177G>C (p.Thr59=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071037	NM_001060.6(TBXA2R):c.1016G>A (p.Arg339His)	TBXA2R (R339H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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