ClinVar Miner

Variants studied for Brain-lung-thyroid syndrome

Coded as:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
29 32 29 7 12 105

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NKX2-1, SFTA3 28 32 28 6 10 101
NKX2-1 0 0 1 1 2 3
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP4S1, ARF6, ARHGAP5, ARHGEF40, BAZ1A, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DNAAF2, DORIP1, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGLN3, EMC9, FAM177A1, FANCM, FBXO33, FITM1, FKBP3, FOXA1, FOXG1, FSCB, G2E3, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHDC1, KLHDC2, KLHL28, L2HGDH, LINC01588, LINC01599, LRFN5, LRP10, LRR1, LTB4R, LTB4R2, MBIP, MDGA2, MDP1, METTL17, METTL3, MGAT2, MIA2, MIPOL1, MIR208A, MIR208B, MIS18BP1, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NEMF, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-8, NOP9, NOVA1, NPAS3, NRL, NUBPL, NYNRIN, OR10G2, OR10G3, OR4E2, OR5AU1, OXA1L, PABPN1, PAX9, PCK2, PNN, POLE2, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRORP, PRPF39, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPS29, SALL2, SCFD1, SDR39U1, SEC23A, SFTA3, SLC22A17, SLC25A21, SLC39A2, SLC7A7, SLC7A8, SNX6, SOS2, SPTSSA, SRP54, SSTR1, STRN3, STXBP6, SUPT16H, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOGARAM1, TOX4, TPPP2, TRA, TRAPPC6B, TSSK4, TTC6, VCPKMT, ZFHX2, ZNF219 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 17 23 1 0 0 41
Illumina Laboratory Services, Illumina 0 1 20 4 11 36
Mendelics 2 1 3 1 1 8
Johns Hopkins Genomics, Johns Hopkins University 1 1 3 2 0 7
OMIM 5 0 0 0 0 5
3billion 1 2 0 0 0 3
Baylor Genetics 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1

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