ClinVar Miner

List of variants reported as likely pathogenic by Service de Génétique Moléculaire,Hôpital Robert Debré

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ClinVar version:
Total variants: 194
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HGVS dbSNP
NC_000017.11:g.44883648dup
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000123.3:c.89-?_528+?del
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
NM_001040142.2(SCN2A):c.4822+1G>A
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001080517.3(SETD5):c.2552del (p.Leu851fs)
NM_001080517.3(SETD5):c.977del (p.Leu326fs)
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001110556.2(FLNA):c.3495del (p.Ser1166fs)
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
NM_001194998.2(CEP152):c.833-1G>C
NM_001197104.2(KMT2A):c.3515dup (p.Asn1172fs)
NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs)
NM_001321075.3(DLG4):c.210+2del
NM_001347721.2(DYRK1A):c.1072-2A>T
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)
NM_001353108.3(CEP63):c.790-2A>G
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_001354689.3(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_001354689.3(RAF1):c.784A>C (p.Asn262His)
NM_001356.5(DDX3X):c.1424G>T (p.Arg475Leu)
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
NM_001374258.1(BRAF):c.1526_1531del (p.Gly509_Thr510del) rs1586140436
NM_001374258.1(BRAF):c.1528A>C (p.Thr510Pro) rs1586140512
NM_001374258.1(BRAF):c.1568A>C (p.Lys523Thr) rs1586126581
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001374258.1(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.4337A>G (p.Tyr1446Cys)
NM_001673.5(ASNS):c.119A>G (p.Tyr40Cys)
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser)
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) rs1570874751
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) rs1595860875
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
NM_003482.4(KMT2D):c.15284G>C (p.Cys5095Ser)
NM_003688.3(CASK):c.1256del (p.Tyr419fs)
NM_003688.3(CASK):c.2039+1del
NM_003688.3(CASK):c.2593del (p.Glu865fs)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser) rs1562931107
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter) rs1227480400
NM_004523.4(KIF11):c.1A>G (p.Met1Val)
NM_004523.4(KIF11):c.2268-1G>A
NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter)
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter)
NM_004523.4(KIF11):c.529del (p.Asp177fs)
NM_004523.4(KIF11):c.587_590del (p.Ile196fs)
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile)
NM_004985.5(KRAS):c.451-5642A>C
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr)
NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla)
NM_006015.6(ARID1A):c.3198+2dup
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
NM_006662.3(SRCAP):c.7466C>G (p.Ser2489Ter)
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006852.6(TLK2):c.997G>T (p.Glu333Ter)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
NM_007254.4(PNKP):c.829dup (p.Thr277fs)
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.6152dup (p.Glu2052fs)
NM_014321.4(ORC6):c.360-1G>T
NM_014321.4(ORC6):c.449+5G>A rs572314014
NM_014727.3(KMT2B):c.3565_3566dup (p.Leu1190fs)
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
NM_015282.3(CLASP1):c.196-607G>A rs180755563
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs)
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
NM_015335.5(MED13L):c.987del (p.Ser330fs)
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_017635.5(KMT5B):c.2095C>T (p.Arg699Ter)
NM_017890.4(VPS13B):c.5331dup (p.Asp1778Ter) rs386834094
NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) rs138930771
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.804del (p.Val269fs)
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186
NM_018249.6(CDK5RAP2):c.3723-2A>C
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)
NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter)
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771
NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter)
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
NM_022455.4:c.5623-?_c.8091+?del
NM_022552.5(DNMT3A):c.1668G>C (p.Arg556Ser)
NM_022893.4(BCL11A):c.540_546del (p.Ser181fs)
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
NM_025009.5(CEP135):c.3215+2T>C
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030665.4(RAI1):c.4545del (p.Cys1516fs)
NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter) rs1559602356
NM_057175.5(NAA15):c.55-2A>C
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_133443.4(GPT2):c.1177dup (p.Val393fs)
NM_133443.4(GPT2):c.269del (p.Val90fs)
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)
NM_173495.3(PTCHD1):c.928G>C (p.Ala310Pro)
NM_182961.4(SYNE1):c.226-2dup rs774388631
NM_198525.3(KIF7):c.3016del (p.Glu1006fs)
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82dup)
NR_023343.1(RNU4ATAC):n.29T>G
NR_023343.1(RNU4ATAC):n.46G>T
NR_023343.1(RNU4ATAC):n.48G>A rs863225422

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