ClinVar Miner

List of variants reported as likely pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

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ClinVar version:
Total variants: 161
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HGVS dbSNP
NC_000020.11:g.(?_508451)_(508551_?)del
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys)
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000834.4(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.4(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.4(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile)
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg)
NM_000834.5(GRIN2B):c.2087G>A rs1555103971
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs)
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs)
NM_001015877.2(PHF6):c.1022A>G (p.Glu341Gly)
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys) rs1602537958
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs)
NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp)
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe)
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly) rs139719918
NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter)
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)
NM_001101.5(ACTB):c.173C>T (p.Ala58Val)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly)
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe)
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr)
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn)
NM_001164343.2(ZBTB20):c.172_178delinsAA (p.Asp58fs) rs1576288424
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
NM_001197104.2(KMT2A):c.4012+1del
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe)
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup)
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del)
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)
NM_001271.4(CHD2):c.4138-1G>A
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro)
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn)
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)
NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter)
NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs)
NM_001349338.3(FOXP1):c.1652+5G>C
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu)
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp)
NM_001356.5(DDX3X):c.543+3_543+6del
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro)
NM_001365902.3(NFIX):c.477dup (p.Gly160fs)
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
NM_001367721.1(CASK):c.875_877del (p.Val292del)
NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs)
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His)
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)
NM_002816.5(PSMD12):c.795+1G>A
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val)
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val)
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg)
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys)
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg)
NM_004321.7(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly)
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys)
NM_004606.5(TAF1):c.715G>A (p.Val239Met)
NM_004830.4(MED23):c.953del (p.Glu318fs)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)
NM_005710.2(PQBP1):c.731C>T (p.Pro244Leu) rs878853145
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) rs1581036396
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)
NM_006516.4(SLC2A1):c.286del (p.Met96fs)
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter)
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs) rs1553511226
NM_006734.4(HIVEP2):c.4036G>T (p.Gly1346Ter)
NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs)
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter)
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu)
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)
NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser)
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs)
NM_014141.6(CNTNAP2):c.97+3A>T
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs)
NM_014712.3(SETD1A):c.2330_2337del (p.Ala777fs)
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs)
NM_015100.4(POGZ):c.2400dup (p.Lys801fs)
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs)
NM_015100.4(POGZ):c.2469del (p.Thr824fs)
NM_015100.4(POGZ):c.2574del (p.His858fs)
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
NM_015335.5(MED13L):c.395+1G>A
NM_015559.3(SETBP1):c.2516del (p.Pro839fs)
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter)
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs)
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.881+1G>C
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter)
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)
NM_022893.4(BCL11A):c.55+1G>T
NM_024665.6(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu)
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg)
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del)
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_032682.6(FOXP1):c.1393A>G (p.Arg465Gly) rs869025202
NM_032682.6(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp)
NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly)
NM_145292.4(GALNTL5):c.153dup (p.Val52fs)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp) rs878853147
NM_198903.2(GABRG2):c.1087C>T (p.Arg363Trp) rs796052510
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp)

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