ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "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: 63
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HGVS dbSNP
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_003104.6(SORD):c.757del (p.Ala253fs)
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs) rs1554581504
NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_020732.3(ARID1B):c.5267_5270del (p.Glu1756fs) rs1583513256
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
Single allele

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