ClinVar Miner

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

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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_000002.12:g.(?_165295773)_(165389874_?)dup
NC_000002.12:g.(?_165991194)_(166073671_?)dup
NC_000002.12:g.(?_166198621)_(166311806_?)dup
NC_000009.12:g.34635592_34635883del292 rs1554707622
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_000070.2(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.1962del (p.Arg655Glyfs)
NM_000098.3(CPT2):c.1321_1324del (p.Thr442Leufs)
NM_000117.2(EMD):c.16delG (p.Asp6Ilefs)
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000193.3(SHH):c.143delT (p.Ile48Thrfs) rs1554495331
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val)
NM_000426.3(LAMA2):c.8075+1G>A
NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.4837C>T (p.Gln1613Ter)
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969
NM_000555.3(DCX):c.191C>T (p.Pro64Leu) rs761786389
NM_000812.3(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_000833.4(GRIN2A):c.1928C>A (p.Ala643Asp) rs879253875
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001069.2(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val)
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001144769.2(DST):c.16973C>T (p.Pro5658Leu)
NM_001160036.1(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.2(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.2(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001199107.1(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001267550.2(TTN):c.106531+1G>A
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.38661_38665delGAAAA (p.Lys12887Asnfs) rs1553775212
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007Ilefs)
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541Profs)
NM_001301226.1(TPM2):c.269G>A (p.Arg90His)
NM_001830.3(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_001848.2(COL6A1):c.1483C>T (p.Pro495Ser)
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)
NM_001849.3(COL6A2):c.2891T>C (p.Met964Thr)
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) rs267608433
NM_003159.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_003159.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_003165.3(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_004369.3(COL6A3):c.6320_6322del (p.Gly2107del)
NM_004408.3(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004501.3(HNRNPU):c.401_402delAC (p.Asp134Glyfs) rs1553283916
NM_004519.3(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004523.3(KIF11):c.2971_2972insT (p.Ser992Lysfs) rs1554863246
NM_004974.3(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_004992.3(MECP2):c.1087_1088insC (p.Lys363Thrfs) rs1557135929
NM_004992.3(MECP2):c.1350C>G (p.Tyr450Ter) rs1557134999
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005249.4(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.4(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_005690.4(DNM1L):c.1337G>T (p.Cys446Phe) rs879253874
NM_005866.3(SIGMAR1):c.561_576del16 (p.Asp188Profs) rs1554707680
NM_006772.2(SYNGAP1):c.34_35delAG (p.Ser12Hisfs) rs1554304254
NM_006920.4(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.5(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.5(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_007287.2(MME):c.1666C>T (p.Pro556Ser)
NM_007287.2(MME):c.1972G>A (p.Ala658Thr)
NM_014191.3(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_015185.2(ARHGEF9):c.541G>C (p.Gly181Arg) rs1556389083
NM_017534.5(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG rs1555907036
NM_020708.4(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
NM_021007.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_021007.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_021007.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_021072.3(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021942.5(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_021942.6(TRAPPC11):c.1568-1G>A
NM_024577.3(SH3TC2):c.2640delC (p.Asn881Ilefs)
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_025265.3(TSEN2):c.1037A>G (p.Tyr346Cys) rs1477347690
NM_025265.3(TSEN2):c.353_354del (p.Gln118Argfs) rs755246924
NM_133499.2(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_139058.2(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) rs587778771
NM_170589.4(KNL1):c.1599A>G (p.Gln533=) rs979186313
NM_170589.4(KNL1):c.6427G>T (p.Asp2143Tyr) rs758157294
NM_172107.3(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.3(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_172107.3(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.3(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.3(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_173728.3(ARHGEF15):c.709_723delGTCCCCCGTCGGGCC (p.Val237_Ala241del) rs1555546796
NM_198903.2(GABRG2):c.824G>A (p.Trp275Ter) rs1554098226
NM_207346.2(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
TSEN54:c.[277T>C;919G>T]

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