ClinVar for Gene (Select 7148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370219	NM_001365276.2(TNXB):c.9694A>G (p.Met3232Val)	TNXB (M3230V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369207	NM_001365276.2(TNXB):c.10426T>G (p.Phe3476Val)	TNXB (F3474V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368058	NM_001365276.2(TNXB):c.7221G>T (p.Glu2407Asp)	TNXB (E2407D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367696	NM_001365276.2(TNXB):c.9473C>G (p.Thr3158Ser)	TNXB (T3156S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367355	NM_001365276.2(TNXB):c.92A>G (p.Asn31Ser)	TNXB (N31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364145	NM_001365276.2(TNXB):c.2443G>A (p.Glu815Lys)	TNXB (E815K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364032	NM_001365276.2(TNXB):c.113G>C (p.Arg38Pro)	TNXB (R38P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363523	NM_001365276.2(TNXB):c.5636C>T (p.Ala1879Val)	TNXB (A1879V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362096	NM_001365276.2(TNXB):c.1238G>A (p.Arg413His)	TNXB (R413H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361596	NM_001365276.2(TNXB):c.10499G>C (p.Arg3500Pro)	TNXB (R3498P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361458	NM_001365276.2(TNXB):c.4984A>C (p.Lys1662Gln)	TNXB (K1662Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359564	NM_001365276.2(TNXB):c.6545C>T (p.Ala2182Val)	TNXB (A2182V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358300	NM_001365276.2(TNXB):c.6605_6608del (p.Val2202fs)	TNXB (V2449fs +1 more)	Deletion (frameshift variant)	TNXB-related disorder	GPathogenic
Select item 3356235	NM_001365276.2(TNXB):c.4213C>T (p.Gln1405Ter)	TNXB (Q1405* +1 more)	Single nucleotide variant (nonsense)	TNXB-related disorder	GPathogenic
Select item 3355402	NM_001365276.2(TNXB):c.9411A>G (p.Val3137=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder	GLikely benign
Select item 3354944	NM_001365276.2(TNXB):c.9417T>C (p.Pro3139=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder	GLikely benign
Select item 3354860	NM_001365276.2(TNXB):c.6779T>C (p.Met2260Thr)	TNXB (M2260T +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3354610	NM_001365276.2(TNXB):c.9420G>C (p.Val3140=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder	GLikely benign
Select item 3352180	NM_001365276.2(TNXB):c.91A>G (p.Asn31Asp)	TNXB (N31D)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3349194	NM_001365276.2(TNXB):c.3345C>G (p.Ala1115=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder	GLikely benign
Select item 3345357	NM_001365276.2(TNXB):c.7691A>C (p.Gln2564Pro)	TNXB (Q2564P +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3343873	NM_001365276.2(TNXB):c.9116-1G>A	TNXB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3343797	NM_001365276.2(TNXB):c.8105G>C (p.Gly2702Ala)	TNXB (G2702A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343676	NM_001365276.2(TNXB):c.8038G>A (p.Gly2680Arg)	TNXB (G2680R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343184	NM_001365276.2(TNXB):c.7309C>G (p.Arg2437Gly)	TNXB (R2437G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342568	NM_001365276.2(TNXB):c.2471G>A (p.Arg824Gln)	TNXB (R824Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340885	NM_001365276.2(TNXB):c.5786G>A (p.Gly1929Asp)	TNXB (G1929D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339423	NM_001365276.2(TNXB):c.7146C>T (p.Pro2382=)	TNXB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339294	NM_001365276.2(TNXB):c.5278+5G>C	TNXB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338902	NM_001365276.2(TNXB):c.510dup (p.Thr171fs)	TNXB (T171fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GPathogenic
Select item 3337679	NM_001365276.2(TNXB):c.9019G>A (p.Val3007Met)	TNXB (V3005M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336129	NM_001365276.2(TNXB):c.1278T>A (p.Thr426=)	TNXB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3327964	NM_001365276.2(TNXB):c.1591G>A (p.Asp531Asn)	TNXB (D531N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327962	NM_001365276.2(TNXB):c.3196G>A (p.Gly1066Ser)	TNXB (G1066S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327961	NM_001365276.2(TNXB):c.4834A>C (p.Lys1612Gln)	TNXB (K1612Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327960	NM_001365276.2(TNXB):c.10052A>T (p.Asp3351Val)	TNXB (D3349V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327959	NM_001365276.2(TNXB):c.5023C>A (p.Pro1675Thr)	TNXB (P1675T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327958	NM_001365276.2(TNXB):c.8347A>G (p.Arg2783Gly)	TNXB (R2783G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327957	NM_001365276.2(TNXB):c.482G>T (p.Gly161Val)	TNXB (G161V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327956	NM_001365276.2(TNXB):c.3329G>A (p.Gly1110Glu)	TNXB (G1110E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327955	NM_001365276.2(TNXB):c.8375G>C (p.Gly2792Ala)	TNXB (G2792A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327954	NM_001365276.2(TNXB):c.1901G>A (p.Gly634Glu)	TNXB (G634E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327952	NM_001365276.2(TNXB):c.9580G>T (p.Asp3194Tyr)	TNXB (D3192Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327951	NM_001365276.2(TNXB):c.6418C>T (p.Arg2140Cys)	TNXB (R2140C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327950	NM_001365276.2(TNXB):c.2077G>A (p.Gly693Arg)	TNXB (G693R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327948	NM_001365276.2(TNXB):c.10672C>T (p.Arg3558Cys)	LOC106780803, TNXB (R3558C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3327947	NM_001365276.2(TNXB):c.8338A>G (p.Met2780Val)	TNXB (M2780V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327946	NM_001365276.2(TNXB):c.1889G>T (p.Arg630Leu)	TNXB (R630L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327944	NM_001365276.2(TNXB):c.10813G>A (p.Asp3605Asn)	LOC106780803, TNXB (D34N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327943	NM_001365276.2(TNXB):c.6000T>C (p.Pro2000=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327942	NM_001365276.2(TNXB):c.4716C>T (p.Ser1572=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327941	NM_001365276.2(TNXB):c.9663G>T (p.Val3221=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327939	NM_001365276.2(TNXB):c.3003G>A (p.Pro1001=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327938	NM_001365276.2(TNXB):c.8264C>T (p.Ser2755Phe)	TNXB (S2755F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327937	NM_001365276.2(TNXB):c.4309A>C (p.Lys1437Gln)	TNXB (K1437Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327936	NM_001365276.2(TNXB):c.2542G>C (p.Val848Leu)	TNXB (V848L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3327935	NM_001365276.2(TNXB):c.6012C>T (p.Ser2004=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327934	NM_001365276.2(TNXB):c.847G>A (p.Gly283Ser)	TNXB (G283S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327933	NM_001365276.2(TNXB):c.1717C>A (p.Arg573=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327932	NM_001365276.2(TNXB):c.10397G>A (p.Arg3466His)	TNXB (R3466H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327931	NM_001365276.2(TNXB):c.5886T>C (p.His1962=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327927	NM_001365276.2(TNXB):c.9843A>G (p.Ser3281=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327926	NM_001365276.2(TNXB):c.5883C>A (p.Val1961=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327925	NM_001365276.2(TNXB):c.7149G>C (p.Val2383=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327924	NM_001365276.2(TNXB):c.1613G>A (p.Cys538Tyr)	TNXB (C538Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327923	NM_001365276.2(TNXB):c.111C>A (p.Pro37=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327922	NM_001365276.2(TNXB):c.8301C>A (p.Thr2767=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327921	NM_001365276.2(TNXB):c.6625T>C (p.Ser2209Pro)	TNXB (S2209P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327920	NM_001365276.2(TNXB):c.1171G>T (p.Asp391Tyr)	TNXB (D391Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327918	NM_001365276.2(TNXB):c.7762A>C (p.Met2588Leu)	TNXB (M2588L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327917	NM_001365276.2(TNXB):c.5810_5811del (p.Ser1937fs)	TNXB (S1937fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3327916	NM_001365276.2(TNXB):c.6525G>A (p.Val2175=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327915	NM_001365276.2(TNXB):c.10292G>C (p.Arg3431Pro)	LOC126859654, TNXB (R3431P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327914	NM_001365276.2(TNXB):c.1919C>T (p.Pro640Leu)	TNXB (P640L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327913	NM_001365276.2(TNXB):c.9160A>G (p.Thr3054Ala)	TNXB (T3052A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327912	NM_001365276.2(TNXB):c.1975C>G (p.Arg659Gly)	TNXB (R659G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327911	NM_001365276.2(TNXB):c.4453G>A (p.Val1485Met)	TNXB (V1485M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327910	NM_001365276.2(TNXB):c.4411T>A (p.Ser1471Thr)	TNXB (S1471T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327908	NM_001365276.2(TNXB):c.9062A>G (p.Tyr3021Cys)	TNXB (Y3019C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327907	NM_001365276.2(TNXB):c.9095T>C (p.Val3032Ala)	TNXB (V3030A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327906	NM_001365276.2(TNXB):c.9878T>C (p.Leu3293Pro)	TNXB (L3293P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327905	NM_001365276.2(TNXB):c.10303A>T (p.Ile3435Phe)	LOC126859654, TNXB (I3433F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327904	NM_001365276.2(TNXB):c.9543G>T (p.Ser3181=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327903	NM_001365276.2(TNXB):c.1579C>T (p.Arg527Cys)	TNXB (R527C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327902	NM_001365276.2(TNXB):c.3715C>T (p.Leu1239Phe)	TNXB (L1239F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327901	NM_001365276.2(TNXB):c.1158C>T (p.Gly386=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327900	NM_001365276.2(TNXB):c.7347C>A (p.Asp2449Glu)	TNXB (D2449E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327899	NM_001365276.2(TNXB):c.9407G>A (p.Arg3136His)	TNXB (R3136H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327897	NM_001365276.2(TNXB):c.3719C>T (p.Thr1240Met)	TNXB (T1240M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327896	NM_001365276.2(TNXB):c.7356C>T (p.Pro2452=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327895	NM_001365276.2(TNXB):c.393A>G (p.Gln131=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327894	NM_001365276.2(TNXB):c.45G>C (p.Leu15=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327893	NM_001365276.2(TNXB):c.2191G>T (p.Asp731Tyr)	TNXB (D731Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327892	NM_001365276.2(TNXB):c.10167C>T (p.Tyr3389=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327891	NM_001365276.2(TNXB):c.9965C>T (p.Pro3322Leu)	TNXB (P3320L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327890	NM_001365276.2(TNXB):c.3262G>A (p.Glu1088Lys)	TNXB (E1088K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327889	NM_001365276.2(TNXB):c.2250A>G (p.Pro750=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327888	NM_001365276.2(TNXB):c.9808G>T (p.Val3270Leu)	TNXB (V3268L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327886	NM_001365276.2(TNXB):c.5890G>A (p.Glu1964Lys)	TNXB (E1964K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327885	NM_001365276.2(TNXB):c.5921C>T (p.Pro1974Leu)	TNXB (P1974L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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