ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Molecular Genetics,CHU RENNES

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Total variants: 45
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HGVS dbSNP
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.2084T>C (p.Ile695Thr) rs876661219
NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_001039591.3(USP9X):c.5339_5340del (p.Thr1780fs) rs1057519007
NM_001040142.2(SCN2A):c.4063_4075del (p.Gly1355fs) rs1057519010
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) rs1057518993
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001134673.4(NFIA):c.905del (p.Gly302fs) rs1057518992
NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_001429.4(EP300):c.2161dup (p.Ala721fs) rs1057519012
NM_003165.4(STXBP1):c.1072del (p.Tyr358fs) rs1057518989
NM_003165.4(STXBP1):c.1082C>T (p.Thr361Ile) rs1057518985
NM_004523.4(KIF11):c.862_871del (p.Ile288fs) rs1057518980
NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu) rs796052461
NM_005270.4(GLI2):c.2064delC (p.Ser690Alafs) rs876661325
NM_005270.4(GLI2):c.2237G>A (p.Trp746Ter) rs876661326
NM_005270.4(GLI2):c.4761G>C (p.Ter1587Tyr) rs876661327
NM_005270.4(GLI2):c.596dupG (p.Ala200Argfs) rs876661323
NM_005270.4(GLI2):c.790C>T (p.Arg264Ter) rs876661324
NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs) rs1057519000
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs) rs1057518987
NM_015570.4(AUTS2):c.1605C>G (p.His535Gln) rs1057518986
NM_020732.3(ARID1B):c.3286_3287dup (p.Pro1097fs) rs1057519009
NM_020732.3(ARID1B):c.5025+1G>A rs1057518984
NM_020732.3(ARID1B):c.6357del (p.Asp2121fs) rs1057519002
NM_023110.2(FGFR1):c.1454G>T (p.Gly485Val) rs876661332
NM_023110.2(FGFR1):c.1468G>C (p.Gly490Arg) rs869025670
NM_023110.2(FGFR1):c.1928G>A (p.Gly643Asp) rs876661333
NM_023110.2(FGFR1):c.1977+1G>A rs876661334
NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) rs876661335
NM_023110.2(FGFR1):c.749G>C (p.Arg250Pro) rs121909645
NM_030632.3(ASXL3):c.1986C>A (p.Tyr662Ter) rs1057519005
NM_032682.5(FOXP1):c.1348+2T>C rs1057518999
NM_032890.5(DISP1):c.2898G>A (p.Trp966Ter) rs749035153
NM_033164.4(FGF8):c.284C>A (p.Ala95Glu) rs876661328
NM_033164.4(FGF8):c.323C>T (p.Thr108Met) rs876661329
NM_033164.4(FGF8):c.352C>T (p.Arg118Ter) rs876661330
NM_033164.4(FGF8):c.584G>A (p.Arg195Gln) rs876661331
NM_134261.3(RORA):c.1019del (p.Arg340fs) rs1057518981
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_203473.3(PORCN):c.565T>C (p.Trp189Arg) rs1057519006

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