Variants studied for hepatoblastoma

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	other	total
6	15	39	0	0	4	63

Gene and significance breakdown #

Total genes and gene combinations: 51

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	other	total
CTNNB1, LOC126806658	3	0	0	2	4
DOCK8	0	0	3	0	3
APC	1	0	1	0	2
BRCA2	0	1	1	0	2
COL7A1	0	1	1	0	2
DHCR7	0	1	1	0	2
FANCM	0	0	2	0	2
GLI3	0	0	2	0	2
VHL	0	1	1	0	2
ARID1A	0	0	0	1	1
ATM	0	0	1	0	1
ATM, C11orf65	0	0	1	0	1
BARD1	0	1	0	0	1
BIVM-ERCC5, ERCC5	0	1	0	0	1
DIS3L2	0	0	1	0	1
DROSHA	0	0	1	0	1
EP300	0	0	1	0	1
ERCC2	0	1	0	0	1
EXT2	0	1	0	0	1
FAH	0	0	1	0	1
FANCA	0	1	0	0	1
FANCD2, FANCD2OS	0	0	1	0	1
FANCD2, LOC107303338	0	0	1	0	1
FAS	0	0	1	0	1
FGFR3	0	1	0	0	1
FH	0	0	1	0	1
FLCN	0	0	1	0	1
FLNA	0	0	1	0	1
FRMPD1	0	0	1	0	1
GBA1, LOC106627981	0	1	0	0	1
JAG1	0	1	0	0	1
JMJD1C	0	0	1	0	1
KDR	0	0	1	0	1
MET	0	0	1	0	1
MN1	0	0	0	1	1
MSH2	0	1	0	0	1
MSH6	0	0	1	0	1
MUTYH	0	0	1	0	1
NDRG4	0	0	1	0	1
NYNRIN	0	0	1	0	1
RECQL	0	0	1	0	1
RECQL4	0	1	0	0	1
REN	0	1	0	0	1
RHBDF2	0	0	1	0	1
RPS19	0	0	1	0	1
SH2B3	0	0	1	0	1
SLX4	0	0	1	0	1
STK11	0	0	1	0	1
TERT	1	0	0	0	1
TGFBR2	0	0	1	0	1
TP53	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	other	total
Molecular Oncology - Human Genetics Lab, University of Sao Paulo	1	14	38	0	53
OMIM	5	0	0	0	5
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	4	4
Laboratory of Human Genetics, Universidade de São Paulo	0	1	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	1	0	1

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