ClinVar Miner

Variants studied for Hirschsprung disease, susceptibility to, 1

Included ClinVar conditions (5):
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
11 29 52 7 2 16 111

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
RET 10 11 22 4 2 15 59
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
NTF3 0 0 1 1 0 0 2
SEMA3D 0 1 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
CTD-2201I18.1, THBS4 0 0 1 0 0 0 1
DENND3 0 1 0 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
EDN3 0 1 0 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
L1CAM 0 0 0 1 0 0 1
LOC110120882, LOC110120883, 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
NRG3 0 1 0 0 0 0 1
NRP2 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
PHOX2B 0 1 0 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
TBATA 0 1 0 0 0 0 1
TGFB2 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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 3 17 1 2 1 0 24
Fulgent Genetics 2 1 15 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 17
OMIM 0 0 0 0 0 16 16
Clinical Genetics, Erasmus University Medical Center 1 2 12 1 0 0 16
CSER_CC_NCGL; University of Washington Medical Center 0 0 7 2 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 1 0 1 0 0 5
Centre for Genomic Sciences,University of Hong Kong 0 4 0 0 0 0 4
U955 Equipe 11,INSERM 1 2 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 1 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1

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