ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes

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Total variants: 53
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HGVS dbSNP
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602
NM_000489.5(ATRX):c.5072A>C (p.Gln1691Pro) rs1569533321
NM_000834.4(GRIN2B):c.2026G>A (p.Asp676Asn) rs1565457924
NM_001005463.3(EBF3):c.832_833insT (p.Asn278fs) rs1564840008
NM_001042681.2(RERE):c.4305C>G (p.His1435Gln) rs751232315
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001079846.1(CREBBP):c.5105A>G (p.His1702Arg) rs1567263724
NM_001101.5(ACTB):c.899_916del (p.Ser300_Met305del) rs1562718846
NM_001123383.1(BCOR):c.4705A>C (p.Ser1569Arg) rs1555913327
NM_001168272.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_001243251.1(NARS2):c.-531C>T rs367584549
NM_001257342.2(BCS1L):c.755G>A (p.Cys252Tyr) rs1165110929
NM_001278716.2(FBXL4):c.1607A>C (p.Gln536Pro) rs1554215998
NM_001282531.3(ADNP):c.3307dup (p.Ter1103LeuextTer?) rs1555809337
NM_001284333.2(TLK2):c.777C>A (p.Tyr259Ter) rs1567920106
NM_001303052.2(MYT1L):c.3076C>A (p.Arg1026Ser) rs1558710588
NM_001303052.2(MYT1L):c.535C>T (p.Arg179Ter) rs1558414255
NM_001605.2(AARS1):c.2177C>T (p.Thr726Met) rs1480620711
NM_001605.2(AARS1):c.259G>A (p.Asp87Asn) rs763757370
NM_002578.5(PAK3):c.1403T>G (p.Leu468Arg) rs1556298855
NM_003042.4(SLC6A1):c.1177G>A (p.Gly393Ser) rs1559633512
NM_003042.4(SLC6A1):c.738C>G (p.Tyr246Ter) rs1559629701
NM_003165.4(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_003588.3(CUL4B):c.2722C>T (p.Gln908Ter) rs1569385075
NM_004211.4(SLC6A5):c.677G>A (p.Gly226Glu) rs1565271429
NM_004463.3(FGD1):c.557G>A (p.Arg186His) rs1277307657
NM_005859.5(PURA):c.265G>A (p.Ala89Thr) rs587782999
NM_006517.5(SLC16A2):c.1135G>A (p.Asp379Asn) rs1163109289
NM_006940.6(SOX5):c.1764G>C (p.Lys588Asn) rs1565669269
NM_013275.6(ANKRD11):c.1283_1284TC[1] (p.Ser429fs)
NM_013275.6(ANKRD11):c.1373_1376GAAA[2] (p.Glu461fs)
NM_014489.4(PGAP2):c.380C>T (p.Ala127Val) rs752346360
NM_014795.4(ZEB2):c.3169T>C (p.Cys1057Arg) rs1560602214
NM_015386.3(COG4):c.2005G>C (p.Ala669Pro) rs1555573157
NM_015981.4(CAMK2A):c.598+2dup rs1554122123
NM_016120.4(RLIM):c.659G>A (p.Arg220Lys) rs1569310039
NM_017635.5(KMT5B):c.813A>G (p.Ile271Met) rs1565226034
NM_017739.3(POMGNT1):c.1526A>G (p.Asn509Ser) rs1557671443
NM_020732.3(ARID1B):c.3296A>T (p.Asp1099Val) rs1554231259
NM_020732.3(ARID1B):c.5390_5393TGTT[1] (p.Phe1798fs) rs1554237269
NM_024665.6(TBL1XR1):c.517T>C (p.Phe173Leu) rs1560117033
NM_031844.3(HNRNPU):c.1743G>C (p.Gln581His) rs1553282372
NM_032504.1(UNC80):c.4963C>T (p.Arg1655Cys) rs1266989763
NM_033517.1(SHANK3):c.4644_4648GCAGC[3] (p.Pro1552fs)
NM_171825.2(CAMK2A):c.65del rs1554123982
NM_172362.3(KCNH1):c.881C>T (p.Thr294Met) rs1558569964
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His) rs1465962355
NM_178012.5(TUBB2B):c.205G>C (p.Glu69Gln) rs1554126964
NM_178014.4(TUBB):c.647A>G (p.Lys216Arg) rs1059145
NM_183356.3(ASNS):c.139T>G (p.Phe47Val) rs1554350586
NM_203473.3(PORCN):c.395T>G (p.Met132Arg) rs1569477854

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