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
25 43 510 130 62 30 6 776

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 24 25 280 88 25 16 5 443
GDNF 0 0 48 18 21 4 0 88
EDNRB 0 0 69 8 3 5 1 83
EDN3 0 1 44 12 12 3 0 69
LOC106736614, RET 0 0 6 1 1 0 0 8
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: 38
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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 1 137 59 5 0 0 207
Baylor Genetics 6 0 125 0 0 0 0 131
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
CSER _CC_NCGL, University of Washington 0 0 7 2 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 0 1 0 0 0 6
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 0 2
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
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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 1

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