ClinVar Miner

Variants studied for Hirschsprung disease

Included ClinVar conditions (12):
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
14 34 89 7 3 29 1 168

Gene and significance breakdown #

Total genes and gene combinations: 74
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RET 13 14 22 4 2 15 0 64
EDNRB 0 2 2 0 0 5 1 10
GDNF 0 0 1 0 1 4 0 5
EDN3 0 1 1 0 0 3 0 4
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
CTD-2201I18.1, THBS4 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, 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
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Clinical Genetics, Erasmus University Medical Center 1 2 46 1 0 0 0 50
OMIM 0 0 0 0 0 29 0 29
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 3 17 1 2 1 0 0 24
Fulgent Genetics,Fulgent Genetics 2 1 15 0 0 0 0 18
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
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
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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 2 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 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 0 2
Integrated Genetics/Laboratory Corporation of America 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1

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