ClinVar Miner

Variants studied for Hirschsprung disease 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
3 12 102 33 24 16 188

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 2 4 69 32 23 15 143
LOC106736614, RET 0 0 4 0 1 0 5
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, 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: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 73 31 23 0 127
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
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
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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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

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