Variants studied for hepatobiliary neoplasm

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	likely risk allele	other	total
75	296	188	44	10	2	16	612

Gene and significance breakdown #

Total genes and gene combinations: 105

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	likely risk allele	other	total
TP53	18	164	7	5	2	0	0	187
APC	18	2	69	10	3	0	0	102
HNF1A	6	4	33	16	1	0	0	60
CTNNB1, LOC126806658	6	28	0	1	0	0	2	31
MET	3	0	24	1	0	0	0	28
PIK3CA	6	17	3	0	0	0	0	22
HRAS, LRRC56	0	10	0	0	0	0	0	10
CTNNB1, LOC126806659	3	1	1	1	0	0	0	6
AXIN1	1	0	2	2	0	0	0	5
CDKN2A	0	4	0	0	1	0	0	5
CTNNB1	2	0	0	3	0	0	0	5
IDH1	0	5	0	0	0	0	0	5
NRAS	0	5	0	0	0	0	0	5
TERT	3	0	2	0	0	0	0	5
CREBBP	0	4	0	0	0	0	0	4
IDH2	0	4	0	0	0	0	0	4
KRAS	2	2	0	0	0	0	0	4
NFE2L2	0	4	0	0	0	0	0	4
PKD1	0	0	1	2	1	0	0	4
CASP8	1	0	1	1	0	0	0	3
DOCK8	0	0	3	0	0	0	0	3
GNAS	0	3	0	0	0	0	0	3
IGF2R	2	0	1	0	0	0	0	3
RAD50	0	3	0	0	0	0	0	3
VDR	0	1	0	0	0	2	0	3
ATM	0	0	1	0	1	0	0	2
BRAF	0	1	1	0	0	0	0	2
BRCA2	0	1	1	0	0	0	0	2
C12orf43, HNF1A	0	0	2	0	0	0	0	2
CNOT9	0	2	0	0	0	0	0	2
COL7A1	0	1	1	0	0	0	0	2
DHCR7	0	1	1	0	0	0	0	2
ERBB3	0	2	0	0	0	0	0	2
FANCM	0	0	2	0	0	0	0	2
FGFR1	0	2	0	0	0	0	0	2
FH	0	1	1	0	0	0	0	2
GLI3	0	0	2	0	0	0	0	2
IGF2R, LOC129997612	0	1	1	0	0	0	0	2
MSH2	0	1	1	0	0	0	0	2
RXRA	0	2	0	0	0	0	0	2
SF3B1	0	2	0	0	0	0	0	2
STK11	0	0	1	1	0	0	0	2
VHL	0	1	1	0	0	0	0	2
intergenic	1	0	0	0	0	0	0	1
AKT1	0	1	0	0	0	0	0	1
APC, LOC129994371	0	0	1	0	0	0	0	1
ARID1A	0	0	0	0	0	0	1	1
ATM, C11orf65	0	0	1	0	0	0	0	1
BARD1	0	1	0	0	0	0	0	1
BIVM-ERCC5, ERCC5	0	1	0	0	0	0	0	1
CXCL8	0	0	0	0	0	0	1	1
CXCR1	0	0	0	0	0	0	1	1
DIS3L2	0	0	1	0	0	0	0	1
DROSHA	0	0	1	0	0	0	0	1
EGF	0	0	0	0	0	0	1	1
EGFR	0	0	0	0	0	0	1	1
EP300	0	0	1	0	0	0	0	1
ERBB2	0	1	0	0	0	0	0	1
ERCC2	0	1	0	0	0	0	0	1
EXT2	0	1	0	0	0	0	0	1
FAH	0	0	1	0	0	0	0	1
FANCA	0	1	0	0	0	0	0	1
FANCD2, FANCD2OS	0	0	1	0	0	0	0	1
FANCD2, LOC107303338	0	0	1	0	0	0	0	1
FAS	0	0	1	0	0	0	0	1
FGFR3	0	1	0	0	0	0	0	1
FLCN	0	0	1	0	0	0	0	1
FLNA	0	0	1	0	0	0	0	1
FRMPD1	0	0	1	0	0	0	0	1
GBA1, LOC106627981	0	1	0	0	0	0	0	1
GJA4	1	0	0	0	0	0	0	1
HIF1A	0	0	0	0	0	0	1	1
IL10, IL19	0	0	0	0	0	0	1	1
IL1B	0	0	0	0	0	0	1	1
IL6, LOC126859963	0	0	0	0	0	0	1	1
JAG1	0	1	0	0	0	0	0	1
JMJD1C	0	0	1	0	0	0	0	1
KDR	0	0	1	0	0	0	0	1
LOC110806263, TERT	0	1	0	0	0	0	0	1
MLH1	0	0	0	0	1	0	0	1
MN1	0	0	0	0	0	0	1	1
MSH6	0	0	1	0	0	0	0	1
MUTYH	0	0	1	0	0	0	0	1
NBN	0	1	0	0	0	0	0	1
NDRG4	0	0	1	0	0	0	0	1
NYNRIN	0	0	1	0	0	0	0	1
PACERR, PTGS2	0	0	0	0	0	0	1	1
PALB2	0	0	1	0	0	0	0	1
PDGFRL	1	0	0	0	0	0	0	1
PMS2	0	1	0	0	0	0	0	1
POLD1	0	0	0	1	0	0	0	1
PTGS2	0	0	0	0	0	0	1	1
RECQL	0	0	1	0	0	0	0	1
RECQL4	0	1	0	0	0	0	0	1
REN	0	1	0	0	0	0	0	1
RET	0	1	0	0	0	0	0	1
RHBDF2	0	0	1	0	0	0	0	1
RPS19	0	0	1	0	0	0	0	1
SET	0	0	0	0	0	0	1	1
SF3B2	0	1	0	0	0	0	0	1
SH2B3	0	0	1	0	0	0	0	1
SLX4	0	0	1	0	0	0	0	1
SMAD4	1	0	0	0	0	0	0	1
TGFBR2	0	0	1	0	0	0	0	1
VEGFA	0	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	likely risk allele	other	total
Database of Curated Mutations (DoCM)	0	261	0	0	0	0	0	261
Fulgent Genetics, Fulgent Genetics	36	8	132	39	6	0	0	221
Molecular Oncology - Human Genetics Lab, University of Sao Paulo	1	14	38	0	0	0	0	53
OMIM	22	0	0	0	0	0	0	22
Institute of Medical Sciences, Banaras Hindu University	8	3	2	0	0	0	0	13
Department of Surgery, Campus Charité Mitte \| Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin	0	0	0	0	0	0	11	11
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	4	3	0	0	10
CZECANCA consortium	0	7	0	0	0	0	0	7
Mendelics	3	1	0	1	0	0	0	5
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	0	0	0	5	5
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan	2	1	2	0	0	0	0	5
3DMed Clinical Laboratory Inc	0	0	5	0	0	0	0	5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	3	0	1	0	0	0	0	4
Bioengineering and Technology, Gauhati University	0	1	0	0	0	2	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	0	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	1	0	0	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	1	0	0	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	0	1	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	1	0	0	0	0	1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center	1	0	0	0	0	0	0	1
Molecular Genetics Lab, CHRU Brest	1	0	0	0	0	0	0	1
Keith Choate Laboratory, Yale University	1	0	0	0	0	0	0	1

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