ClinVar Miner

Variants studied for NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
48 42 34 7 12 1 135

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NKX2-1, SFTA3 43 38 30 6 10 0 120
NKX2-1 1 0 1 1 2 0 4
RINT1 0 2 0 0 0 0 2
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP4S1, ARF6, ARHGAP5, ARHGEF40, BAZ1A, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf28, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DNAAF2, 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 0 1
ATM, C11orf65 0 0 1 0 0 0 1
BRAF 1 0 0 0 0 1 1
KRAS 0 1 0 0 0 0 1
LIG4 0 1 0 0 0 0 1
MBIP, MIPOL1, NKX2-1, NKX2-8, PAX9, PTCSC3, SFTA3, SLC25A21 1 0 0 0 0 0 1
PALB2 0 0 1 0 0 0 1
PCM1 0 0 1 0 0 0 1
TP53 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 18 24 1 0 0 0 43
Illumina Laboratory Services, Illumina 0 1 20 4 11 0 36
OMIM 13 0 0 0 0 0 13
Mendelics 4 2 3 1 1 0 11
Johns Hopkins Genomics, Johns Hopkins University 2 1 3 2 0 0 8
3billion 1 3 0 0 0 0 4
Baylor Genetics 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 1 0 0 0 2
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics, ASUI Udine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.