Variants studied for Aganglionic megacolon

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
7	20	45	5	1	1	76

Gene and significance breakdown #

Total genes and gene combinations: 42

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
RET	7	10	8	3	1	0	27
NRG3	0	1	3	0	0	0	4
EDNRB	0	0	3	0	0	0	3
DENND3	0	0	2	0	0	0	2
ECE1	0	2	0	0	0	0	2
YWHAE	0	0	2	0	0	0	2
AXIN2	0	1	0	0	0	0	1
DEPDC1	0	0	1	0	0	0	1
DPPA5	0	0	1	0	0	0	1
DSCAM	0	1	0	0	0	0	1
EDN3	0	1	0	0	0	0	1
F5	0	0	1	0	0	0	1
FMN2	0	0	1	0	0	0	1
GFRA1	0	0	1	0	0	0	1
IKBKB	0	0	1	0	0	0	1
IQCF5	0	0	1	0	0	0	1
L1CAM	0	0	0	1	0	0	1
LOC105378311, PCDH15	0	0	1	0	0	0	1
LOC110121502, MCS+9.7, RET	0	0	0	0	0	1	1
MAN2A2	0	0	1	0	0	0	1
MED15	0	0	1	0	0	0	1
MGAM2	0	0	1	0	0	0	1
MYBPC3	0	0	1	0	0	0	1
NOTCH4	0	0	1	0	0	0	1
NTF3	0	0	0	1	0	0	1
NUP98	0	0	1	0	0	0	1
OAS3	0	0	1	0	0	0	1
PACS1	0	0	1	0	0	0	1
PHAX	0	0	1	0	0	0	1
PHOX2B	0	1	0	0	0	0	1
PHRF1	0	0	1	0	0	0	1
POLR2F, SOX10	0	1	0	0	0	0	1
POR	0	0	1	0	0	0	1
PROKR1	0	1	0	0	0	0	1
SEMA3D	0	1	1	0	0	0	1
SLC22A1	0	0	1	0	0	0	1
SNF8	0	0	1	0	0	0	1
TBATA	0	0	1	0	0	0	1
TMEM165	0	0	1	0	0	0	1
VCL	0	0	1	0	0	0	1
ZEB2	0	0	1	0	0	0	1
ZNF592	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Clinical Genetics, Erasmus University Medical Center	0	0	34	0	0	0	34
Human Genomics Unit, Institute for molecular medicine Finland (FIMM)	3	17	1	2	1	0	24
CSER _CC_NCGL, University of Washington	0	0	7	2	0	0	9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	3	1	0	1	0	0	5
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	1	1	0	0	1	3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.