ClinVar for Gene (Select 7145) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061029	NM_001387777.1(TNS1):c.2934G>A (p.Ala978=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3060903	NM_001387777.1(TNS1):c.3901T>C (p.Trp1301Arg)	TNS1 (W1176R +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3060871	NM_001387777.1(TNS1):c.4581T>C (p.Ser1527=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3060826	NM_001387777.1(TNS1):c.5477A>G (p.Asn1826Ser)	TNS1 (N1701S +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3060794	NM_001387777.1(TNS1):c.2322G>A (p.Ser774=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3060672	NM_001387777.1(TNS1):c.990A>G (p.Pro330=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3060316	NM_001387777.1(TNS1):c.2514T>C (p.Asn838=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3060255	NM_001387777.1(TNS1):c.5122G>A (p.Val1708Ile)	TNS1 (V1583I +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3060098	NM_001387777.1(TNS1):c.2327AGC[8] (p.Gln784del)	TNS1 (Q659del +1 more)	Microsatellite (inframe deletion)	TNS1-related condition	GBenign
Select item 3059973	NM_001387777.1(TNS1):c.3687G>A (p.Pro1229=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3059841	NM_001387777.1(TNS1):c.3798T>C (p.Ala1266=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3059811	NM_001387777.1(TNS1):c.1365C>T (p.Ser455=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3059719	NM_001387777.1(TNS1):c.2634C>T (p.Ser878=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3059451	NM_001387777.1(TNS1):c.1875C>G (p.Ile625Met)	TNS1 (I500M +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3059394	NM_001387777.1(TNS1):c.2304G>A (p.Val768=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3059339	NM_001387777.1(TNS1):c.3373+1076C>T	TNS1 (R1004W)	Single nucleotide variant (missense variant +1 more)	TNS1-related condition	GBenign
Select item 3059250	NM_001387777.1(TNS1):c.4284T>C (p.Gly1428=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3059089	NM_001387777.1(TNS1):c.1958C>T (p.Thr653Ile)	TNS1 (T528I +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3058716	NM_001387777.1(TNS1):c.595-8G>C	TNS1	Single nucleotide variant (intron variant)	TNS1-related condition	GLikely benign
Select item 3057094	NM_001387777.1(TNS1):c.4558G>A (p.Ala1520Thr)	TNS1 (A1395T +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3057079	NM_001387777.1(TNS1):c.3916C>T (p.Pro1306Ser)	TNS1 (P1181S +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3056697	NM_001387777.1(TNS1):c.3336T>C (p.Pro1112=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3056638	NM_001387777.1(TNS1):c.3852G>A (p.Ala1284=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3055946	NM_001387777.1(TNS1):c.1771C>T (p.Arg591Cys)	TNS1 (R466C +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3055634	NM_001387777.1(TNS1):c.679A>C (p.Asn227His)	TNS1 (N102H +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3055025	NM_001387777.1(TNS1):c.5506G>A (p.Gly1836Ser)	TNS1 (G1711S +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 3053894	NM_001387777.1(TNS1):c.3175G>A (p.Ala1059Thr)	TNS1 (A1059T +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 3053065	NM_001387777.1(TNS1):c.3754G>A (p.Asp1252Asn)	TNS1 (D1127N +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 3052707	NM_001387777.1(TNS1):c.873G>A (p.Val291=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3052682	NM_001387777.1(TNS1):c.3597G>A (p.Ser1199=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3052411	NM_001387777.1(TNS1):c.2438C>T (p.Thr813Ile)	TNS1 (T688I +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3050327	NM_001387777.1(TNS1):c.5376-8G>A	TNS1	Single nucleotide variant (intron variant)	TNS1-related condition	GLikely benign
Select item 3050196	NM_001387777.1(TNS1):c.3392A>T (p.Glu1131Val)	TNS1 (E1006V +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3048703	NM_001387777.1(TNS1):c.4617C>T (p.Pro1539=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3048276	NM_001387777.1(TNS1):c.4167C>T (p.Ser1389=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3047116	NM_001387777.1(TNS1):c.3549C>T (p.Ser1183=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3045486	NM_001387777.1(TNS1):c.3262A>G (p.Ser1088Gly)	TNS1 (S1088G +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 3044835	NM_001387777.1(TNS1):c.2727G>A (p.Leu909=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3044740	NM_001387777.1(TNS1):c.3785C>T (p.Pro1262Leu)	TNS1 (P1137L +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3042888	NM_001387777.1(TNS1):c.2544C>T (p.Ser848=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3042140	NM_001387777.1(TNS1):c.1333G>C (p.Gly445Arg)	TNS1 (G320R +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 3041984	NM_001387777.1(TNS1):c.3283C>T (p.Arg1095Trp)	TNS1 (R1095W +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3041980	NM_001387777.1(TNS1):c.4593C>T (p.Thr1531=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3041622	NM_001387777.1(TNS1):c.*9C>T	TNS1	Single nucleotide variant (3 prime UTR variant)	TNS1-related condition	GLikely benign
Select item 3041480	NM_001387777.1(TNS1):c.897C>T (p.Ser299=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3041450	NM_001387777.1(TNS1):c.1688G>A (p.Arg563Gln)	TNS1 (R438Q +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3040902	NM_001387777.1(TNS1):c.1698C>A (p.Asp566Glu)	TNS1 (D441E +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3040747	NM_001387777.1(TNS1):c.1548C>T (p.Ala516=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3040649	NM_001387777.1(TNS1):c.5484C>T (p.Val1828=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3040391	NM_001387777.1(TNS1):c.3659G>A (p.Arg1220His)	TNS1 (R1095H +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3040134	NM_001387777.1(TNS1):c.542T>G (p.Leu181Arg)	TNS1 (L181R +1 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GBenign
Select item 3039794	NM_001387777.1(TNS1):c.4551G>A (p.Ser1517=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GBenign
Select item 3039725	NM_001387777.1(TNS1):c.2327AGC[10] (p.Gln784_Pro785insGln)	TNS1	Microsatellite (inframe insertion)	TNS1-related condition	GBenign
Select item 3038795	NM_001387777.1(TNS1):c.426C>T (p.Tyr142=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3038789	NM_001387777.1(TNS1):c.3905G>A (p.Arg1302Gln)	TNS1 (R1177Q +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 3038359	NM_001387777.1(TNS1):c.5376-9C>T	TNS1	Single nucleotide variant (intron variant)	TNS1-related condition	GLikely benign
Select item 3038319	NM_001387777.1(TNS1):c.4563C>T (p.Ser1521=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3035556	NM_001387777.1(TNS1):c.5274-4G>T	TNS1	Single nucleotide variant (intron variant)	TNS1-related condition	GLikely benign
Select item 3035420	NM_001387777.1(TNS1):c.2466G>A (p.Pro822=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related condition	GLikely benign
Select item 3034351	NM_001387777.1(TNS1):c.5376-8G>T	TNS1	Single nucleotide variant (intron variant)	TNS1-related condition	GLikely benign
Select item 3033607	NM_001387777.1(TNS1):c.5414C>T (p.Thr1805Met)	TNS1 (T1680M +3 more)	Single nucleotide variant (missense variant)	TNS1-related condition	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2651872	NM_001387777.1(TNS1):c.4298C>T (p.Pro1433Leu)	TNS1 (P1308L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2622893	NM_001387777.1(TNS1):c.3653G>T (p.Gly1218Val)	TNS1 (G1114V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620435	NM_001387777.1(TNS1):c.3194G>A (p.Arg1065Gln)	TNS1 (R1065Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616638	NM_001387777.1(TNS1):c.2974A>G (p.Asn992Asp)	TNS1 (N867D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611976	NM_001387777.1(TNS1):c.2776T>C (p.Cys926Arg)	TNS1 (C801R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611790	NM_001387777.1(TNS1):c.3786G>A (p.Pro1262=)	TNS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2609782	NM_001387777.1(TNS1):c.1622A>T (p.Asp541Val)	TNS1 (D416V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606385	NM_001387777.1(TNS1):c.3878C>A (p.Thr1293Asn)	TNS1 (T1168N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594404	NM_001387777.1(TNS1):c.3128T>A (p.Val1043Asp)	TNS1 (V1043D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594188	NM_001387777.1(TNS1):c.2072G>A (p.Arg691Gln)	TNS1 (R566Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591214	NM_001387777.1(TNS1):c.3115C>G (p.Arg1039Gly)	TNS1 (R1039G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2569146	NM_001387777.1(TNS1):c.2133G>C (p.Glu711Asp)	TNS1 (E711D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569109	NM_001387777.1(TNS1):c.1808G>A (p.Arg603His)	TNS1 (R603H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568838	NM_001387777.1(TNS1):c.4783C>T (p.His1595Tyr)	LOC126806511, TNS1 (H1478Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561864	NM_001387777.1(TNS1):c.566G>T (p.Arg189Ile)	TNS1 (R64I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559852	NM_001387777.1(TNS1):c.2352G>T (p.Gln784His)	TNS1 (Q659H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556756	NM_001387777.1(TNS1):c.3284G>A (p.Arg1095Gln)	TNS1 (R1095Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551365	NM_001387777.1(TNS1):c.3410C>T (p.Ala1137Val)	TNS1 (A1020V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536015	NM_001387777.1(TNS1):c.3641T>A (p.Leu1214Gln)	TNS1 (L1214Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534881	NM_001387777.1(TNS1):c.3821G>A (p.Gly1274Asp)	TNS1 (G1149D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532128	NM_001387777.1(TNS1):c.3055C>G (p.Arg1019Gly)	TNS1 (R894G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529616	NM_001387777.1(TNS1):c.5423C>A (p.Ala1808Asp)	TNS1 (A1704D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529464	NM_001387777.1(TNS1):c.3980C>T (p.Thr1327Ile)	TNS1 (T1210I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526938	NM_001387777.1(TNS1):c.913A>G (p.Asn305Asp)	TNS1 (N180D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526039	NM_001387777.1(TNS1):c.1630G>A (p.Asp544Asn)	TNS1 (D419N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521139	NM_001387777.1(TNS1):c.1061A>C (p.Gln354Pro)	TNS1 (Q229P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509168	NM_001387777.1(TNS1):c.3784C>A (p.Pro1262Thr)	TNS1 (P1145T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491653	NM_001387777.1(TNS1):c.4847A>C (p.Gln1616Pro)	LOC126806511, TNS1 (Q1499P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485969	NM_001387777.1(TNS1):c.3997A>G (p.Thr1333Ala)	TNS1 (T1208A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484235	NM_001387777.1(TNS1):c.601G>A (p.Glu201Lys)	TNS1 (E76K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483143	NM_001387777.1(TNS1):c.898G>A (p.Gly300Ser)	TNS1 (G175S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480744	NM_001387777.1(TNS1):c.4903A>G (p.Thr1635Ala)	TNS1 (T1510A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472547	NM_001387777.1(TNS1):c.1963G>A (p.Glu655Lys)	TNS1 (E530K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466722	NM_001387777.1(TNS1):c.4618G>A (p.Asp1540Asn)	TNS1 (D1436N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461526	NM_001387777.1(TNS1):c.4000G>C (p.Val1334Leu)	TNS1 (V1217L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459404	NM_001387777.1(TNS1):c.2099C>T (p.Thr700Met)	TNS1 (T700M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459011	NM_001387777.1(TNS1):c.3130C>T (p.Arg1044Cys)	TNS1 (R1044C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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