6915[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 263265	NM_001060.6(TBXA2R):c.*680T>C	TBXA2R (L351P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 263264	NM_001060.6(TBXA2R):c.*654G>A	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1289217	NM_001060.6(TBXA2R):c.*653C>T	TBXA2R (T342M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1285720	NM_001060.6(TBXA2R):c.608_609dup	TBXA2R	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1240852	NM_001060.6(TBXA2R):c.*609dup	TBXA2R	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1239007	NM_001060.6(TBXA2R):c.*609del	TBXA2R	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1207313	NM_001060.6(TBXA2R):c.608_609del	TBXA2R	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1293885	NM_001060.6(TBXA2R):c.*314C>T	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1252629	NM_001060.6(TBXA2R):c.*282G>C	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1218080	NM_001060.6(TBXA2R):c.*275A>G	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1297313	NM_001060.6(TBXA2R):c.*164C>T	TBXA2R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 1953769	NM_001060.6(TBXA2R):c.1015_1021del (p.Arg339fs)	TBXA2R (R339fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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
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 1953770	NM_001060.6(TBXA2R):c.1013A>T (p.Gln338Leu)	TBXA2R (Q338L)	Single nucleotide variant (missense variant +1 more)	not provided	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 1951624	NM_001060.6(TBXA2R):c.1010C>T (p.Thr337Met)	TBXA2R (T337M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 2413756	NM_001060.6(TBXA2R):c.953G>A (p.Arg318His)	TBXA2R (R318H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064294	NM_001060.6(TBXA2R):c.951G>A (p.Arg317=)	TBXA2R	Single nucleotide variant (synonymous 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 3324893	NM_001060.6(TBXA2R):c.940G>A (p.Ala314Thr)	TBXA2R (A314T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2981731	NM_001060.6(TBXA2R):c.934C>T (p.Arg312Cys)	TBXA2R (R312C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263269	NM_001060.6(TBXA2R):c.924T>C (p.Tyr308=)	TBXA2R	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2123875	NM_001060.6(TBXA2R):c.917G>A (p.Trp306Ter)	TBXA2R (W306*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 29905	NM_001060.6(TBXA2R):c.910G>A (p.Asp304Asn)	TBXA2R (D304N)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 13, susceptibility to	Grisk factor
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 2961702	NM_001060.6(TBXA2R):c.882G>A (p.Leu294=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2482811	NM_001060.6(TBXA2R):c.850C>T (p.Arg284Cys)	TBXA2R (R284C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052264	NM_001060.6(TBXA2R):c.848C>A (p.Ser283Tyr)	TBXA2R (S283Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 627148	NM_001060.6(TBXA2R):c.848C>G (p.Ser283Cys)	TBXA2R (S283C)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GUncertain significance
Select item 1703799	NM_001060.6(TBXA2R):c.840G>A (p.Gly280=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 2975613	NM_001060.6(TBXA2R):c.834C>T (p.Pro278=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122445	NM_001060.6(TBXA2R):c.831C>T (p.Ser277=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2787964	NM_001060.6(TBXA2R):c.811C>T (p.Arg271Ter)	TBXA2R (R271*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2887169	NM_001060.6(TBXA2R):c.810G>T (p.Leu270=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2065205	NM_001060.6(TBXA2R):c.801G>A (p.Gln267=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 263268	NM_001060.6(TBXA2R):c.795C>T (p.Ile265=)	TBXA2R	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 627136	NM_001060.6(TBXA2R):c.787-2A>G	TBXA2R	Single nucleotide variant (splice acceptor variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 2743118	NM_001060.6(TBXA2R):c.787-9C>T	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747808	NM_001060.6(TBXA2R):c.787-14T>C	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237123	NM_001060.6(TBXA2R):c.787-74A>G	TBXA2R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209273	NM_001060.6(TBXA2R):c.787-289C>A	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234638	NM_001060.6(TBXA2R):c.786+224A>G	TBXA2R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226591	NM_001060.6(TBXA2R):c.786+170G>A	TBXA2R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967812	NM_001060.6(TBXA2R):c.786+18G>A	TBXA2R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703800	NM_001060.6(TBXA2R):c.786+5G>A	TBXA2R	Single nucleotide variant (intron variant)	Bleeding disorder, platelet-type, 13, susceptibility to	GUncertain significance
Select item 2069300	NM_001060.6(TBXA2R):c.782T>A (p.Leu261His)	TBXA2R (L261H)	Single nucleotide variant (missense variant)	not provided	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 2706092	NM_001060.6(TBXA2R):c.762C>A (p.Ala254=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891088	NM_001060.6(TBXA2R):c.747G>A (p.Gly249=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978231	NM_001060.6(TBXA2R):c.744G>T (p.Leu248=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2773265	NM_001060.6(TBXA2R):c.735T>A (p.Ala245=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 39590	NM_001060.6(TBXA2R):c.722T>G (p.Val241Gly)	TBXA2R (V241G)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 13, susceptibility to	Grisk factor
Select item 2964536	NM_001060.6(TBXA2R):c.717C>T (p.Ser239=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627364	NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)	TBXA2R (D238G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3380560	NM_001060.6(TBXA2R):c.710G>A (p.Arg237Gln)	TBXA2R (R237Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992001	NM_001060.6(TBXA2R):c.710G>T (p.Arg237Leu)	TBXA2R (R237L)	Single nucleotide variant (missense variant)	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 2188678	NM_001060.6(TBXA2R):c.669C>T (p.Cys223=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780500	NM_001060.6(TBXA2R):c.649G>A (p.Val217Ile)	TBXA2R (V217I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1703802	NM_001060.6(TBXA2R):c.620C>T (p.Ser207Leu)	TBXA2R (S207L)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 13, susceptibility to	GUncertain significance
Select item 2779524	NM_001060.6(TBXA2R):c.616_618del (p.Leu206del)	TBXA2R (L206del)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2964380	NM_001060.6(TBXA2R):c.567C>A (p.Ala189=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768954	NM_001060.6(TBXA2R):c.558G>A (p.Thr186=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2786124	NM_001060.6(TBXA2R):c.552C>T (p.Phe184=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736890	NM_001060.6(TBXA2R):c.549C>T (p.Cys183=)	TBXA2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1684472	NM_001060.6(TBXA2R):c.548G>A (p.Cys183Tyr)	TBXA2R (C183Y)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 13, susceptibility to	GLikely pathogenic

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