ClinVar for Gene (Select 9321) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369683	NM_004239.4(TRIP11):c.5163A>T (p.Glu1721Asp)	TRIP11 (E1720D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359975	NM_004239.4(TRIP11):c.5210C>T (p.Thr1737Ile)	TRIP11 (T1736I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358864	NM_004239.4(TRIP11):c.1438G>T (p.Glu480Ter)	TRIP11 (E480* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 3349956	NM_004239.4(TRIP11):c.3355T>C (p.Tyr1119His)	TRIP11 (Y1118H +1 more)	Single nucleotide variant (missense variant)	TRIP11-related disorder	GUncertain significance
Select item 3329012	NM_004239.4(TRIP11):c.3317A>G (p.Asn1106Ser)	TRIP11 (N1106S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3329011	NM_004239.4(TRIP11):c.602A>G (p.Gln201Arg)	TRIP11 (Q200R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329010	NM_004239.4(TRIP11):c.2471G>A (p.Ser824Asn)	TRIP11 (S824N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329009	NM_004239.4(TRIP11):c.647A>G (p.Asn216Ser)	TRIP11 (N216S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329008	NM_004239.4(TRIP11):c.5465A>C (p.His1822Pro)	TRIP11 (H1822P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329005	NM_004239.4(TRIP11):c.610G>C (p.Asp204His)	TRIP11 (D204H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3329004	NM_004239.4(TRIP11):c.3883A>G (p.Ile1295Val)	TRIP11 (I1294V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329003	NM_004239.4(TRIP11):c.2939A>T (p.His980Leu)	TRIP11 (H980L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329002	NM_004239.4(TRIP11):c.3278C>T (p.Ala1093Val)	TRIP11 (A1093V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329001	NM_004239.4(TRIP11):c.1267C>T (p.Arg423Cys)	TRIP11 (R422C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329000	NM_004239.4(TRIP11):c.5401G>A (p.Glu1801Lys)	TRIP11 (E1800K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328999	NM_004239.4(TRIP11):c.2809A>G (p.Lys937Glu)	TRIP11 (K936E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244087	NC_000014.8:g.(?_92413537)_(92491784_?)dup	FBLN5, TRIP11	Duplication	not provided	GUncertain significance
Select item 3243957	NC_000014.8:g.(?_92436017)_(92436257_?)del	TRIP11	Deletion	Achondrogenesis, type IA	GLikely pathogenic
Select item 3236470	TRIP11, ASN701SERfsTER13	TRIP11	Variation	Achondrogenesis, type IA	GPathogenic
Select item 3182920	NM_004239.4(TRIP11):c.894A>C (p.Gln298His)	TRIP11 (Q298H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182919	NM_004239.4(TRIP11):c.5566G>A (p.Val1856Ile)	TRIP11 (V1855I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182918	NM_004239.4(TRIP11):c.5179A>G (p.Asn1727Asp)	TRIP11 (N1726D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182917	NM_004239.4(TRIP11):c.5068A>T (p.Met1690Leu)	TRIP11 (M1689L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182916	NM_004239.4(TRIP11):c.4487A>G (p.Lys1496Arg)	TRIP11 (K1496R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182915	NM_004239.4(TRIP11):c.4322G>T (p.Arg1441Met)	TRIP11 (R1440M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182914	NM_004239.4(TRIP11):c.4043A>T (p.Glu1348Val)	TRIP11 (E1348V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182913	NM_004239.4(TRIP11):c.3904A>G (p.Lys1302Glu)	TRIP11 (K1301E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182912	NM_004239.4(TRIP11):c.2707A>G (p.Thr903Ala)	TRIP11 (T902A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182911	NM_004239.4(TRIP11):c.2366A>G (p.His789Arg)	TRIP11 (H788R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182909	NM_004239.4(TRIP11):c.2150A>G (p.Glu717Gly)	TRIP11 (E717G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182907	NM_004239.4(TRIP11):c.1708G>T (p.Ala570Ser)	TRIP11 (A569S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182906	NM_004239.4(TRIP11):c.1264A>G (p.Met422Val)	TRIP11 (M421V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182905	NM_004239.4(TRIP11):c.1214G>A (p.Ser405Asn)	TRIP11 (S404N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065105	NM_004239.4(TRIP11):c.4894C>T (p.His1632Tyr)	TRIP11 (H1631Y +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GUncertain significance
Select item 3032441	NM_004239.4(TRIP11):c.4898A>G (p.Gln1633Arg)	TRIP11 (Q1632R +1 more)	Single nucleotide variant (missense variant)	TRIP11-related disorder	GUncertain significance
Select item 3022640	NM_004239.4(TRIP11):c.4558-5A>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 3017280	NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)	TRIP11 (E1463D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 3016685	NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 3013551	NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)	TRIP11 (I317T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 3012935	NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)	TRIP11 (N1426S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 3006422	NM_004239.4(TRIP11):c.5343-1G>C	TRIP11	Single nucleotide variant (splice acceptor variant)	Achondrogenesis, type IA	GLikely pathogenic
Select item 3004397	NM_004239.4(TRIP11):c.2875T>C (p.Leu959=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2999774	NM_004239.4(TRIP11):c.4761T>C (p.His1587=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2997495	NM_004239.4(TRIP11):c.4557+15G>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2991772	NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)	TRIP11 (K1517fs +1 more)	Microsatellite (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2988761	NM_004239.4(TRIP11):c.2605T>C (p.Leu869=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2975249	NM_004239.4(TRIP11):c.5057-1G>A	TRIP11	Single nucleotide variant (splice acceptor variant)	Achondrogenesis, type IA	GLikely pathogenic
Select item 2974518	NM_004239.4(TRIP11):c.1887G>A (p.Gln629=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2973569	NM_004239.4(TRIP11):c.3783T>A (p.Ser1261=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2973001	NM_004239.4(TRIP11):c.2421A>G (p.Thr807=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2967934	NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)	TRIP11 (Y287C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2962830	NM_004239.4(TRIP11):c.4558-11C>A	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2920864	NM_004239.4(TRIP11):c.4842A>G (p.Thr1614=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918880	NM_004239.4(TRIP11):c.5026C>T (p.Leu1676=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2917949	NM_004239.4(TRIP11):c.4892+19T>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2911466	NM_004239.4(TRIP11):c.4698+17_4698+22del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2908528	NM_004239.4(TRIP11):c.1191C>T (p.Ala397=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2907693	NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)	TRIP11 (S526N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2906595	NM_004239.4(TRIP11):c.2821G>A (p.Asp941Asn)	TRIP11 (D940N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2905337	NM_004239.4(TRIP11):c.2985A>G (p.Gln995=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2905134	NM_004239.4(TRIP11):c.567C>T (p.Gly189=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2904253	NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)	TRIP11 (E1478fs +1 more)	Deletion (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2899451	NM_004239.4(TRIP11):c.202-5del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GBenign
Select item 2897117	NM_004239.4(TRIP11):c.5433C>T (p.Gly1811=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2888511	NM_004239.4(TRIP11):c.4006G>C (p.Glu1336Gln)	TRIP11 (E1335Q +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2888419	NM_004239.4(TRIP11):c.429A>G (p.Ser143=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2883730	NM_004239.4(TRIP11):c.2247A>G (p.Ala749=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2877411	NM_004239.4(TRIP11):c.384T>C (p.Ala128=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2874887	NM_004239.4(TRIP11):c.312+14_312+15del	TRIP11	Microsatellite (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2874753	NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2869550	NM_004239.4(TRIP11):c.2547G>A (p.Glu849=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2864137	NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)	TRIP11 (N664D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2853029	NM_004239.4(TRIP11):c.2883G>A (p.Lys961=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2851824	NM_004239.4(TRIP11):c.4557+13T>A	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2843452	NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)	TRIP11 (Q1090* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 2838267	NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)	TRIP11 (N326K +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2835481	NM_004239.4(TRIP11):c.2147T>C (p.Met716Thr)	TRIP11 (M715T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2833369	NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLeuLeu)	TRIP11	Insertion (inframe_insertion)	Achondrogenesis, type IA	GPathogenic
Select item 2814011	NM_004239.4(TRIP11):c.2911dup (p.Thr971fs)	TRIP11 (T970fs +1 more)	Duplication (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2813857	NM_004239.4(TRIP11):c.4968G>T (p.Ala1656=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2811996	NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2811857	NM_004239.4(TRIP11):c.3270A>G (p.Gln1090=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2807798	NM_004239.4(TRIP11):c.5719+13A>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2803820	NM_004239.4(TRIP11):c.1731C>T (p.Thr577=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2797272	NM_004239.4(TRIP11):c.5346C>T (p.Val1782=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2793739	NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)	TRIP11 (M1534T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2791084	NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)	TRIP11 (D1169fs +1 more)	Deletion (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2790260	NM_004239.4(TRIP11):c.1527+9G>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2782159	NM_004239.4(TRIP11):c.1315-14T>C	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2782021	NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)	TRIP11 (E1605G +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2780109	NM_004239.4(TRIP11):c.4416C>T (p.Tyr1472=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2768462	NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)	TRIP11 (S1839* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 2768141	NM_004239.4(TRIP11):c.944_948del (p.Ile315fs)	TRIP11 (I314fs +1 more)	Microsatellite (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2766007	NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)	TRIP11 (R542fs +1 more)	Duplication (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2762212	NM_004239.4(TRIP11):c.201+14_201+15del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2753557	NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu)	TRIP11 (P1850L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GLikely benign
Select item 2748881	NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)	TRIP11	Microsatellite (inframe_insertion)	Achondrogenesis, type IA	GUncertain significance
Select item 2739332	NM_004239.4(TRIP11):c.1186+18C>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2738828	NM_004239.4(TRIP11):c.5343-18C>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2733115	NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)	TRIP11 (P1920L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance

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