Related gene-specific medical variations for Gene (Select 7007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234482	NM_005422.4(TECTA):c.2592C>T (p.Asn864=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233502	NM_005422.4(TECTA):c.199-10A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3175685	NM_005422.4(TECTA):c.803G>A (p.Arg268Gln)	TBCEL-TECTA, TECTA (R268Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175684	NM_005422.4(TECTA):c.650C>T (p.Thr217Ile)	TBCEL-TECTA, TECTA (T536I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175682	NM_005422.4(TECTA):c.6265G>A (p.Glu2089Lys)	TBCEL-TECTA, TECTA (E2403K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175681	NM_005422.4(TECTA):c.6229G>T (p.Val2077Leu)	TBCEL-TECTA, TECTA (V2391L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175680	NM_005422.4(TECTA):c.6207G>T (p.Glu2069Asp)	TBCEL-TECTA, TECTA (E2383D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175678	NM_005422.4(TECTA):c.5641A>G (p.Asn1881Asp)	TBCEL-TECTA, TECTA (N2195D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175677	NM_005422.4(TECTA):c.5326G>A (p.Glu1776Lys)	TBCEL-TECTA, TECTA (E1776K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175676	NM_005422.4(TECTA):c.517G>A (p.Asp173Asn)	TBCEL-TECTA, TECTA (D173N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175673	NM_005422.4(TECTA):c.4414C>A (p.Leu1472Met)	TBCEL-TECTA, TECTA (L1472M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175672	NM_005422.4(TECTA):c.4160C>T (p.Pro1387Leu)	TBCEL-TECTA, TECTA (P1706L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175670	NM_005422.4(TECTA):c.3917A>T (p.Asn1306Ile)	TBCEL-TECTA, TECTA (N1306I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175669	NM_005422.4(TECTA):c.3734A>G (p.Asn1245Ser)	TBCEL-TECTA, TECTA (N1245S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175668	NM_005422.4(TECTA):c.3695G>A (p.Ser1232Asn)	TBCEL-TECTA, TECTA (S1551N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175667	NM_005422.4(TECTA):c.3652G>A (p.Val1218Ile)	TBCEL-TECTA, TECTA (V1218I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175666	NM_005422.4(TECTA):c.3487G>A (p.Val1163Met)	TBCEL-TECTA, TECTA (V1482M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175664	NM_005422.4(TECTA):c.3143A>G (p.Asn1048Ser)	TBCEL-TECTA, TECTA (N1367S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175662	NM_005422.4(TECTA):c.2748C>A (p.Asn916Lys)	LOC126861365, TBCEL-TECTA +1 more (N916K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175660	NM_005422.4(TECTA):c.2402A>G (p.His801Arg)	LOC126861365, TBCEL-TECTA +1 more (H1120R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175659	NM_005422.4(TECTA):c.2287C>A (p.Pro763Thr)	TBCEL-TECTA, TECTA (P1082T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175658	NM_005422.4(TECTA):c.1919G>C (p.Ser640Thr)	TBCEL-TECTA, TECTA (S959T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175657	NM_005422.4(TECTA):c.1745T>C (p.Ile582Thr)	TBCEL-TECTA, TECTA (I582T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175656	NM_005422.4(TECTA):c.122T>C (p.Val41Ala)	TBCEL-TECTA, TECTA (V360A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075938	NM_005422.4(TECTA):c.12dup (p.Ser5fs)	TBCEL-TECTA, TECTA (S324fs +1 more)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075888	NM_005422.4(TECTA):c.5719del (p.Ser1907fs)	TBCEL-TECTA, TECTA (S1907fs +1 more)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075869	NM_005422.4(TECTA):c.1060C>T (p.Gln354Ter)	TBCEL-TECTA, TECTA (Q354* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 3075725	NM_005422.4(TECTA):c.568A>C (p.Thr190Pro)	TBCEL-TECTA, TECTA (T190P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GLikely pathogenic
Select item 3061152	NM_005422.4(TECTA):c.1948T>A (p.Cys650Ser)	TBCEL-TECTA, TECTA (C650S +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 3058033	NM_005422.4(TECTA):c.3569C>A (p.Pro1190His)	TBCEL-TECTA, TECTA (P1190H +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 3051930	NM_005422.4(TECTA):c.199-3T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder	GLikely benign
Select item 3051824	NM_005422.4(TECTA):c.4274G>A (p.Cys1425Tyr)	TBCEL-TECTA, TECTA (C1425Y +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 3044928	NM_005422.4(TECTA):c.249G>A (p.Thr83=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 3044922	NM_005422.4(TECTA):c.1204-10T>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder	GLikely benign
Select item 3033099	NM_005422.4(TECTA):c.3945C>T (p.His1315=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 3030904	NM_005422.4(TECTA):c.5583G>A (p.Val1861=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 3030742	NM_005422.4(TECTA):c.790+7del	TBCEL-TECTA, TECTA	Deletion (intron variant)	TECTA-related disorder	GLikely benign
Select item 3027353	NM_005422.4(TECTA):c.4116C>T (p.Cys1372=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3026450	NM_005422.4(TECTA):c.2695G>A (p.Asp899Asn)	TECTA, LOC126861365 +1 more (D1218N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023994	NM_005422.4(TECTA):c.487-19G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021267	NM_005422.4(TECTA):c.5750+14T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020249	NM_005422.4(TECTA):c.4162C>T (p.Arg1388Cys)	TBCEL-TECTA, TECTA (R1388C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016910	NM_005422.4(TECTA):c.4912G>C (p.Gly1638Arg)	TBCEL-TECTA, TECTA (G1957R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016195	NM_005422.4(TECTA):c.5118G>C (p.Gly1706=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013874	NM_005422.4(TECTA):c.6312G>A (p.Gly2104=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012204	NM_005422.4(TECTA):c.5683G>T (p.Glu1895Ter)	TBCEL-TECTA, TECTA (E1895* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3000523	NM_005422.4(TECTA):c.625-14C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996562	NM_005422.4(TECTA):c.4228G>A (p.Ala1410Thr)	TBCEL-TECTA, TECTA (A1410T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996009	NM_005422.4(TECTA):c.4350C>T (p.Arg1450=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996008	NM_005422.4(TECTA):c.3713A>G (p.Tyr1238Cys)	TBCEL-TECTA, TECTA (Y1238C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992601	NM_005422.4(TECTA):c.2916G>A (p.Gly972=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987976	NM_005422.4(TECTA):c.65-19C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987692	NM_005422.4(TECTA):c.791-16T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987643	NM_005422.4(TECTA):c.2367+13_2367+19del	TBCEL-TECTA, TECTA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2986909	NM_005422.4(TECTA):c.3526_3539del (p.Tyr1176fs)	TBCEL-TECTA, TECTA (Y1176fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2986307	NM_005422.4(TECTA):c.4675C>T (p.Arg1559Trp)	TBCEL-TECTA, TECTA (R1559W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984414	NM_005422.4(TECTA):c.5587-19A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981432	NM_005422.4(TECTA):c.459G>A (p.Thr153=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979479	NM_005422.4(TECTA):c.834C>T (p.Asn278=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974356	NM_005422.4(TECTA):c.6363C>T (p.Cys2121=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974009	NM_005422.4(TECTA):c.2905G>A (p.Val969Met)	LOC126861365, TBCEL-TECTA +1 more (V969M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973553	NM_005422.4(TECTA):c.2489T>C (p.Ile830Thr)	LOC126861365, TBCEL-TECTA +1 more (I830T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2973219	NM_005422.4(TECTA):c.2217C>T (p.Leu739=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972693	NM_005422.4(TECTA):c.3995G>A (p.Cys1332Tyr)	TBCEL-TECTA, TECTA (C1332Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2972195	NM_005422.4(TECTA):c.2421A>C (p.Glu807Asp)	LOC126861365, TECTA +1 more (E1126D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970656	NM_005422.4(TECTA):c.5664G>A (p.Arg1888=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969140	NM_005422.4(TECTA):c.3773T>A (p.Leu1258Gln)	TBCEL-TECTA, TECTA (L1258Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967538	NM_005422.4(TECTA):c.6369C>T (p.Ala2123=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966700	NM_005422.4(TECTA):c.5548A>T (p.Ile1850Phe)	TBCEL-TECTA, TECTA (I1850F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964373	NM_005422.4(TECTA):c.2942-6C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963446	NM_005422.4(TECTA):c.355C>T (p.Pro119Ser)	TBCEL-TECTA, TECTA (P119S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2961984	NM_005422.4(TECTA):c.4068G>T (p.Gly1356=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958419	NM_005422.4(TECTA):c.454G>C (p.Val152Leu)	TBCEL-TECTA, TECTA (V152L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914751	NM_005422.4(TECTA):c.3580G>C (p.Gly1194Arg)	TBCEL-TECTA, TECTA (G1194R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909868	NM_005422.4(TECTA):c.349A>G (p.Met117Val)	TBCEL-TECTA, TECTA (M117V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2908889	NM_005422.4(TECTA):c.2487C>T (p.Asp829=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906559	NM_005422.4(TECTA):c.1424C>T (p.Pro475Leu)	TBCEL-TECTA, TECTA (P475L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906024	NM_005422.4(TECTA):c.3289G>A (p.Asp1097Asn)	TBCEL-TECTA, TECTA (D1416N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901612	NM_005422.4(TECTA):c.3684A>G (p.Thr1228=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901240	NM_005422.4(TECTA):c.2737G>A (p.Gly913Ser)	LOC126861365, TBCEL-TECTA +1 more (G913S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2898094	NM_005422.4(TECTA):c.867C>A (p.Asn289Lys)	TBCEL-TECTA, TECTA (N289K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897585	NM_005422.4(TECTA):c.4942G>A (p.Ala1648Thr)	TBCEL-TECTA, TECTA (A1648T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2896311	NM_005422.4(TECTA):c.5754A>T (p.Val1918=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893904	NM_005422.4(TECTA):c.1691T>A (p.Leu564His)	TBCEL-TECTA, TECTA (L883H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887329	NM_005422.4(TECTA):c.806G>A (p.Arg269Gln)	TBCEL-TECTA, TECTA (R588Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2885448	NM_005422.4(TECTA):c.3731A>G (p.Tyr1244Cys)	TBCEL-TECTA, TECTA (Y1563C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883008	NM_005422.4(TECTA):c.4177C>T (p.Arg1393Cys)	TBCEL-TECTA, TECTA (R1393C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882024	NM_005422.4(TECTA):c.810G>A (p.Gly270=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878712	NM_005422.4(TECTA):c.1172T>C (p.Leu391Pro)	TBCEL-TECTA, TECTA (L391P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876659	NM_005422.4(TECTA):c.4488C>T (p.Arg1496=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875410	NM_005422.4(TECTA):c.2138G>A (p.Cys713Tyr)	TBCEL-TECTA, TECTA (C1032Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871948	NM_005422.4(TECTA):c.1772G>A (p.Cys591Tyr)	TBCEL-TECTA, TECTA (C591Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871429	NM_005422.4(TECTA):c.4483T>C (p.Phe1495Leu)	TBCEL-TECTA, TECTA (F1814L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871353	NM_005422.4(TECTA):c.5373del (p.Tyr1792fs)	TBCEL-TECTA, TECTA (Y1792fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2869346	NM_005422.4(TECTA):c.1706A>G (p.Gln569Arg)	TBCEL-TECTA, TECTA (Q888R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860654	NM_005422.4(TECTA):c.3600C>A (p.Ile1200=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856319	NM_005422.4(TECTA):c.972G>A (p.Val324=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855747	NM_005422.4(TECTA):c.141T>A (p.Ser47=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830565	NM_005422.4(TECTA):c.1840T>C (p.Cys614Arg)	TBCEL-TECTA, TECTA (C933R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828932	NM_005422.4(TECTA):c.5006A>G (p.Gln1669Arg)	TBCEL-TECTA, TECTA (Q1669R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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