ClinVar Miner

Variants studied for Hirschsprung disease, susceptibility to

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
60 51 652 141 69 7 932

Gene and significance breakdown #

Total genes and gene combinations: 76
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RET 45 32 415 98 30 6 590
GDNF 4 0 49 18 22 0 89
EDNRB 5 1 71 8 4 1 86
EDN3 3 1 46 12 12 0 71
LOC106736614, RET 0 0 7 2 1 0 10
NRG3 0 1 3 0 0 0 4
DENND3 0 1 2 0 0 0 3
POLR2F, SOX10 0 3 0 0 0 0 3
AHNAK 0 0 2 0 0 0 2
ECE1 0 2 0 0 0 0 2
GFRA1 0 0 2 0 0 0 2
NTF3 0 0 1 1 0 0 2
NUP98 0 1 1 0 0 0 2
SEMA3D 0 1 2 0 0 0 2
TBATA 0 1 1 0 0 0 2
YWHAE 0 0 2 0 0 0 2
AXIN2 0 1 0 0 0 0 1
C10orf55, PLAU 0 0 1 0 0 0 1
CCR9, LZTFL1 0 0 1 0 0 0 1
CLUH 0 0 1 0 0 0 1
CNTN5 0 0 1 0 0 0 1
CREBBP 0 0 1 0 0 0 1
DEPDC1 0 0 1 0 0 0 1
DPPA5 0 0 1 0 0 0 1
DPYD 0 0 1 0 0 0 1
DSCAM 0 1 0 0 0 0 1
DYNC2H1 0 0 1 0 0 0 1
EDNRB, LOC107882129 1 0 0 0 0 0 1
F5 0 0 1 0 0 0 1
FAT3 0 0 1 0 0 0 1
FBN1 0 0 1 0 0 0 1
FMN2 0 0 1 0 0 0 1
GLI3 0 1 0 0 0 0 1
IHH 0 1 0 0 0 0 1
IKBKB 0 0 1 0 0 0 1
IQCF5 0 0 1 0 0 0 1
IRAK3 0 0 1 0 0 0 1
KDR 0 0 1 0 0 0 1
L1CAM 0 0 0 1 0 0 1
LOC105378311, PCDH15 0 0 1 0 0 0 1
LOC110120882, LOC110120883, LOC126863146, LOC130067396, POLR2F, SOX10 1 0 0 0 0 0 1
LOC110121502, MCS+9.7, RET 1 0 0 0 0 0 1
LRBA 0 0 1 0 0 0 1
MAN2A2 0 0 1 0 0 0 1
MED15 0 0 1 0 0 0 1
MGAM2 0 0 1 0 0 0 1
MYBPC3 0 0 1 0 0 0 1
NAV2 0 0 1 0 0 0 1
NCLN 0 1 0 0 0 0 1
NOTCH2 0 0 1 0 0 0 1
NOTCH4 0 0 1 0 0 0 1
NRP2 0 0 1 0 0 0 1
NTRK1 0 0 1 0 0 0 1
OAS3 0 0 1 0 0 0 1
OR1F1 0 0 0 1 0 0 1
PACS1 0 0 1 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 1
PGRMC2 0 0 1 0 0 0 1
PHAX 0 0 1 0 0 0 1
PHOX2B 0 1 0 0 0 0 1
PHRF1 0 0 1 0 0 0 1
PIGO 0 0 1 0 0 0 1
POR 0 0 1 0 0 0 1
PROKR1 0 1 0 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SERPINF1 0 0 1 0 0 0 1
SLC22A1 0 0 1 0 0 0 1
SNF8 0 0 1 0 0 0 1
TGFB2 0 0 1 0 0 0 1
THBS4 0 0 1 0 0 0 1
TMEM165 0 0 1 0 0 0 1
TSC2 0 0 1 0 0 0 1
VCL 0 0 1 0 0 0 1
ZEB2 0 0 1 0 0 0 1
ZHX2 0 0 1 0 0 0 1
ZNF592 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 222 66 57 0 345
Fulgent Genetics, Fulgent Genetics 5 5 251 66 5 0 332
Baylor Genetics 9 0 188 0 0 0 197
Clinical Genetics, Erasmus University Medical Center 1 2 46 1 0 0 50
Department of Pathology and Laboratory Medicine, Sinai Health System 6 1 11 4 9 0 31
OMIM 30 0 0 0 0 0 30
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 3 17 1 2 1 0 24
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 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 3 1 2 1 0 14
CSER _CC_NCGL, University of Washington 0 0 7 2 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 1 0 1 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Centre for Genomic Sciences, University of Hong Kong 0 4 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
U955 Equipe 11, INSERM 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
3billion 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1

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