ClinVar Miner

Variants studied for Hirschsprung disease, susceptibility to, 1

Coded as:
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 total
17 24 283 34 25 17 391

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
RET 16 16 249 33 24 16 345
LOC106736614, RET 0 0 5 0 1 0 6
AHNAK 0 0 2 0 0 0 2
POLR2F, SOX10 0 2 0 0 0 0 2
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
DENND3 0 1 0 0 0 0 1
DPYD 0 0 1 0 0 0 1
DYNC2H1 0 0 1 0 0 0 1
FAT3 0 0 1 0 0 0 1
FBN1 0 0 1 0 0 0 1
GDNF 0 0 1 0 0 0 1
GFRA1 0 0 1 0 0 0 1
GLI3 0 1 0 0 0 0 1
IHH 0 1 0 0 0 0 1
IRAK3 0 0 1 0 0 0 1
KDR 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 0 0 0 0 0 1 1
LRBA 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
NRP2 0 0 1 0 0 0 1
NTF3 0 0 1 0 0 0 1
NUP98 0 1 0 0 0 0 1
OR1F1 0 0 0 1 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
PTCH1 0 0 1 0 0 0 1
SEMA3D 0 0 1 0 0 0 1
SERPINF1 0 0 1 0 0 0 1
TBATA 0 1 0 0 0 0 1
TGFB2 0 0 1 0 0 0 1
THBS4 0 0 1 0 0 0 1
TSC2 0 0 1 0 0 0 1
ZHX2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Baylor Genetics 9 0 188 0 0 0 197
Illumina Laboratory Services, Illumina 0 0 73 31 23 0 127
OMIM 0 0 0 0 0 17 17
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
Clinical Genetics, Erasmus University Medical Center 1 2 12 1 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 1 1 1 0 12
Centre for Genomic Sciences, University of Hong Kong 0 4 0 0 0 0 4
MGZ Medical Genetics Center 0 2 1 0 0 0 3
U955 Equipe 11, INSERM 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 1 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 1 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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