ClinVar Miner

List of variants reported as likely pathogenic by NeuroMeGen,Hospital Clinico Santiago de Compostela

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 125
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HGVS dbSNP
NC_000001.10:g.(?_206516175)_(206567055_?)dup
NC_000001.10:g.(?_206579711)_(206634815_?)dup
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
NC_000014.8:g.(?_67243157)_(67647704_?)del
NC_000014.9:g.(?_66776464)_(66776521_?)del
NC_000014.9:g.(?_66824474)_(66824566_?)del
NC_000016.10:g.(?_29824300)_(29826034_?)del
NC_000016.10:g.(?_6316970)_(6317082_?)del
NC_000016.10:g.(?_6654578)_(6654675_?)del
NC_000017.11:g.(?_2638238)_(2638345_?)del
NC_000017.11:g.(?_2680139)_(2681852_?)del
NC_000022.11:g.(?_21213348)_(21242174_?)del
NC_000022.11:g.(?_32200123)_(32200234_?)del
NM_000070.3(CAPN3):c.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs) rs1557718075
NM_000117.2(EMD):c.16del (p.Asp6fs) rs1569552076
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000193.4(SHH):c.143del (p.Ile48fs) rs1554495331
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val) rs191899712
NM_000426.3(LAMA2):c.8075+1G>A rs1055407857
NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_000902.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_000902.4(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) rs1557135929
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) rs1557134999
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001134407.3(GRIN2A):c.1928C>A (p.Ala643Asp) rs879253875
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001195553.2(DCX):c.-22-364C>T rs761786389
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) rs1560689563
NM_001267550.2(TTN):c.38656_38660GAAAA[1] (p.Lys12887fs) rs1553775212
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669
NM_001267550.2(TTN):c.87015_87016GA[2] (p.Glu29007fs) rs1559267059
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs) rs1559187287
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_001848.2(COL6A1):c.1483C>T (p.Pro495Ser) rs1569518677
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.3(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_004369.3(COL6A3):c.6320_6322del (p.Gly2107del) rs1559225974
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004523.4(KIF11):c.2972dup (p.Ser992fs) rs1554863246
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_005866.4(SIGMAR1):c.446-25_*40del rs1554707622
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs) rs1554304254
NM_006920.6(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) rs879253874
NM_015548.5(DST):c.15461C>T (p.Pro5154Leu) rs1242078669
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021942.6(TRAPPC11):c.1568-1G>A rs1180079162
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) rs1477347690
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) rs755246924
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) rs1553283916
NM_133379.5(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_144508.5(KNL1):c.1521A>G (p.Gln507=) rs979186313
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr) rs758157294
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del) rs1555546796
NM_198903.2(GABRG2):c.824G>A (p.Trp275Ter) rs1554098226
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225
NM_213599.2(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213674.1(TPM2):c.269G>A (p.Arg90His) rs1563929454
TSEN54:c.[277T>C;919G>T]

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