ClinVar Miner

Variants studied for intestinal motility disease

Included ClinVar conditions (54):
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 risk factor not provided total
161 126 1380 500 143 30 21 2285

Gene and significance breakdown #

Total genes and gene combinations: 103
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PHOX2B 19 6 396 255 24 0 0 696
RET 24 26 327 88 25 16 5 490
MYLK 3 0 110 25 8 0 2 147
EDNRB 9 8 77 9 3 5 1 105
MYH11 7 5 68 9 6 0 0 94
GDNF 0 0 48 18 21 4 0 88
LOC110011216, PHOX2B 7 0 30 40 9 0 0 82
EDN3 6 4 46 14 12 3 0 76
MYH11, NDE1 2 2 54 2 6 0 1 66
KIFBP 8 5 36 3 6 0 0 57
POLR2F, SOX10 20 25 8 2 1 0 0 56
FLNA 5 1 29 17 3 0 1 55
ACTG2 25 19 12 0 4 0 9 54
ACTA2 6 1 24 6 3 0 2 42
GUCY2C 2 5 10 2 7 0 0 25
KIFBP, LOC130003959 1 1 8 1 2 0 0 10
ACTA2, FAS 0 0 3 5 0 0 0 8
ERBB3 5 2 3 0 0 0 0 8
LOC106736614, RET 0 0 6 1 1 0 0 8
LMOD1 3 0 2 0 0 0 0 5
LOC126806791, MYLK 0 0 4 0 1 0 0 5
C12orf60, GUCY2C 3 0 1 0 0 0 0 4
NRG3 0 1 3 0 0 0 0 4
ASCL1, PAH 0 0 3 0 0 0 0 3
DENND3 0 1 2 0 0 0 0 3
LOC129937401, MYLK 0 0 3 0 0 0 0 3
AHNAK 0 0 2 0 0 0 0 2
DLGAP4, MYL9 1 1 1 0 0 0 0 2
ECE1 0 2 0 0 0 0 0 2
EDNRB, LOC107882129 0 0 1 0 0 1 0 2
FLNA, LOC107988032 0 0 1 0 1 0 0 2
GFRA1 0 0 2 0 0 0 0 2
GUCY2C, PLBD1 0 0 2 0 0 0 0 2
LOC126806792, MYLK 0 0 2 0 0 0 0 2
NEK9 0 2 0 0 0 0 0 2
NTF3 0 0 1 1 0 0 0 2
NUP98 0 1 1 0 0 0 0 2
SEMA3D 0 1 2 0 0 0 0 2
TBATA 0 1 1 0 0 0 0 2
YWHAE 0 0 2 0 0 0 0 2
ABCC1, BMERB1, CEP20, MARF1, MYH11, NDE1 1 0 0 0 0 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, LOC121853043, LOC125446232, LOC129391280, LOC130067392, LOC130067393, LOC130067394, LOC130067395, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 0 0 0 1
AXIN2 0 1 0 0 0 0 0 1
BDNF 0 0 1 0 0 0 0 1
C10orf55, PLAU 0 0 1 0 0 0 0 1
C12orf60, GUCY2C, PLBD1 1 0 0 0 0 0 0 1
CCR9, LZTFL1 0 0 1 0 0 0 0 1
CLUH 0 0 1 0 0 0 0 1
CNTN5 0 0 1 0 0 0 0 1
CREBBP 0 0 1 0 0 0 0 1
DEPDC1 0 0 1 0 0 0 0 1
DPPA5 0 0 1 0 0 0 0 1
DPYD 0 0 1 0 0 0 0 1
DSCAM 0 1 0 0 0 0 0 1
DYNC2H1 0 0 1 0 0 0 0 1
F5 0 0 1 0 0 0 0 1
FAT3 0 0 1 0 0 0 0 1
FBN1 0 0 1 0 0 0 0 1
FMN2 0 0 1 0 0 0 0 1
GLI3 0 1 0 0 0 0 0 1
IHH 0 1 0 0 0 0 0 1
IKBKB 0 0 1 0 0 0 0 1
IQCF5 0 0 1 0 0 0 0 1
IRAK3 0 0 1 0 0 0 0 1
KDR 0 0 1 0 0 0 0 1
L1CAM 0 0 0 1 0 0 0 1
LOC105378311, PCDH15 0 0 1 0 0 0 0 1
LOC110120882, LOC110120883, LOC126863146, LOC130067396, POLR2F, SOX10 1 0 0 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 0 0 1 0 1
LRBA 0 0 1 0 0 0 0 1
MAN2A2 0 0 1 0 0 0 0 1
MED15 0 0 1 0 0 0 0 1
MGAM2 0 0 1 0 0 0 0 1
MYBPC3 0 0 1 0 0 0 0 1
MYL9 0 0 1 0 0 0 0 1
NAV2 0 0 1 0 0 0 0 1
NCLN 0 1 0 0 0 0 0 1
NOTCH2 0 0 1 0 0 0 0 1
NOTCH4 0 0 1 0 0 0 0 1
NRP2 0 0 1 0 0 0 0 1
OAS3 0 0 1 0 0 0 0 1
OR1F1 0 0 0 1 0 0 0 1
PACS1 0 0 1 0 0 0 0 1
PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT 0 0 1 0 0 0 0 1
PGRMC2 0 0 1 0 0 0 0 1
PHAX 0 0 1 0 0 0 0 1
PHRF1 0 0 1 0 0 0 0 1
PIGO 0 0 1 0 0 0 0 1
POR 0 0 1 0 0 0 0 1
PROKR1 0 1 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 1
SERPINF1 0 0 1 0 0 0 0 1
SLC22A1 0 0 1 0 0 0 0 1
SNF8 0 0 1 0 0 0 0 1
TFAP2B 1 0 0 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 1
THBS4 0 0 1 0 0 0 0 1
TMEM165 0 0 1 0 0 0 0 1
TSC2 0 0 1 0 0 0 0 1
VCL 0 0 1 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 1
ZHX2 0 0 1 0 0 0 0 1
ZNF592 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 2 396 288 16 0 0 712
Fulgent Genetics, Fulgent Genetics 11 4 393 108 12 0 0 528
Illumina Laboratory Services, Illumina 0 1 300 87 91 0 0 479
Baylor Genetics 13 0 195 0 0 0 0 208
OMIM 65 0 6 0 0 30 0 100
Clinical Genetics, Erasmus University Medical Center 4 2 52 1 0 0 0 59
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 28 5 0 0 0 33
Genome-Nilou Lab 0 0 0 0 31 0 0 31
Center for Human Genetics, Inc, Center for Human Genetics, Inc 9 16 4 1 0 0 0 30
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 3 17 1 2 1 0 0 24
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 6 8 1 0 0 0 21
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 17 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 4 1 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 3 0 0 0 0 12
3billion 1 4 5 2 0 0 0 12
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 7 1 3 0 0 0 0 11
GeneReviews 0 0 0 0 0 0 10 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 10 0 0 0 0 0 0 10
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 2 3 0 0 0 0 10
Mendelics 1 0 1 4 3 0 0 9
CSER _CC_NCGL, University of Washington 0 0 7 2 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 2 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 2 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 2 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 4 0 0 0 0 6
New York Genome Center 1 1 4 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 4 0 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 1 0 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 0 0 0 0 0 0 5
MGZ Medical Genetics Center 0 4 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 0 5
Wangler Lab, Baylor College of Medicine 4 0 1 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 0 5
Suma Genomics 2 0 3 0 0 0 0 5
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 4 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 1 0 0 4
Centre for Genomic Sciences, University of Hong Kong 0 4 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 1 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 0 3
U955 Equipe 11, INSERM 1 2 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 1 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 1 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 1 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 0 2
King Laboratory, University of Washington 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
FORGE Canada, Children's Hospital of Eastern Ontario 2 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 2 0 0 0 0 0 0 2
Clinical Genetics Group, University of Otago 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 2 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Hospital Sainte-Justine 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Department of Immunology, Genetics and Pathology, Uppsala University 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 0 1
Department of Paediatric Surgery, The Canberra Hospital 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Hereditary Hearing Loss Research Unit, University of Madras 1 0 0 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, State University of Campinas 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 0 0 1 0 0 0 0 1
Medical Genetics, Haseki Training and Research Hospital 0 1 0 0 0 0 0 1
Aleixo Muise Laboratory, Hospital For Sick Children 0 1 0 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 1

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