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
6	20	45	5	1	1	75

Gene and significance breakdown #

Total genes and gene combinations: 42

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
RET	6	10	8	3	1	0	26
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: 7

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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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1

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