Variants studied for Huppke-Brendel 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)

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	not provided	total
8	0	2	1	1	6	12

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
SLC33A1	7	2	1	1	6	11
TSEN54	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	7	0	0	0	0	7
GeneReviews	0	0	0	0	6	6
Fulgent Genetics, Fulgent Genetics	0	1	1	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	0	1
Keimyung University Dongsan Hospital, Keimyung University School of Medicine	1	0	0	0	0	1

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