ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely pathogenic" from any submitter

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000310.4(PPT1):c.541G>A rs148412181
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001371279.1(REEP1):c.512del (p.Pro171fs) rs387906263
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)
Single allele

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