ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "likely pathogenic" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP
NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_006920.6(SCN1A):c.4880T>A (p.Ile1627Asn) rs1057521079
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581

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