ClinVar Miner

Variants studied for Hirschsprung disease, susceptibility to

Included ClinVar conditions (16):
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
26 50 643 137 63 30 6 917

Gene and significance breakdown #

Total genes and gene combinations: 75
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RET 25 31 412 94 26 16 5 581
GDNF 0 0 48 18 21 4 0 88
EDNRB 0 1 69 8 3 5 1 84
EDN3 0 1 44 12 12 3 0 69
LOC106736614, RET 0 0 7 2 1 0 0 10
NRG3 0 1 3 0 0 0 0 4
DENND3 0 1 2 0 0 0 0 3
POLR2F, SOX10 0 3 0 0 0 0 0 3
AHNAK 0 0 2 0 0 0 0 2
ECE1 0 2 0 0 0 0 0 2
GFRA1 0 0 2 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
AXIN2 0 1 0 0 0 0 0 1
C10orf55, PLAU 0 0 1 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
EDNRB, LOC107882129 0 0 0 0 0 1 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
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
PHOX2B 0 1 0 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
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: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 222 66 57 0 0 345
Fulgent Genetics, Fulgent Genetics 5 5 251 66 5 0 0 332
Baylor Genetics 9 0 188 0 0 0 0 197
Clinical Genetics, Erasmus University Medical Center 1 2 46 1 0 0 0 50
OMIM 0 0 0 0 0 30 0 30
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 3 17 1 2 1 0 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 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 1 1 1 0 0 12
CSER _CC_NCGL, University of Washington 0 0 7 2 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 1 0 1 0 0 0 5
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 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
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 1 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 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

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