Variants studied for Atypical hemolytic-uremic syndrome

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
19	20	74	61	62	1	228

Gene and significance breakdown #

Total genes and gene combinations: 33

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
CFH	6	3	14	10	10	0	43
C3	2	0	20	9	4	0	34
CFI	1	3	10	5	5	0	24
C2, CFB	0	0	1	15	9	0	21
CFHR5	1	0	5	8	2	0	16
DGKE	3	8	2	0	0	0	12
THBD	1	0	6	4	2	1	12
CD46	2	2	2	1	3	0	9
CFB	0	0	5	2	1	0	8
MYH9	0	0	0	0	7	0	7
CD46, LOC129932405	0	1	2	0	1	0	4
CFHR2	0	0	0	2	2	0	4
COL4A3, MFF-DT	0	0	0	0	4	0	4
ADAMTS13	0	1	2	0	0	0	3
COL4A4	0	0	0	0	3	0	3
PLA2R1	0	0	0	0	3	0	3
CFHR4	0	0	0	2	0	0	2
COL4A5	1	0	0	0	1	0	2
NPHS1	0	0	0	0	2	0	2
SMARCAL1	0	1	1	0	0	0	2
C1GALT1C1	1	0	0	0	0	0	1
CEP290	0	0	1	0	0	0	1
CFHR3	0	0	0	0	1	0	1
HBB, LOC106099062, LOC107133510	0	1	0	0	0	0	1
LAMB2	0	0	0	1	0	0	1
MMACHC	1	0	0	0	0	0	1
NLRP3	0	0	0	0	1	0	1
NPHP3, NPHP3-ACAD11	0	0	1	0	0	0	1
NPHP4	0	0	0	1	0	0	1
PLG	0	0	1	0	0	0	1
TMEM67	0	0	1	0	0	0	1
TRPC6	0	0	0	0	1	0	1
WT1	0	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Genome Diagnostics Laboratory, The Hospital for Sick Children	3	5	43	44	58	0	153
Sydney Genome Diagnostics, Children's Hospital Westmead	13	6	23	0	0	1	43
Illumina Laboratory Services, Illumina	0	0	8	17	4	0	29
Richard Lifton Laboratory, Yale University School of Medicine	0	7	0	0	0	0	7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	1	0	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev	1	0	0	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	1	0	0	0	0	0	1

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