Variants studied for respiratory system cancer

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	association	confers sensitivity	risk factor	not provided	total
142	566	245	105	40	4	4	1	30	1072

Gene and significance breakdown #

Total genes and gene combinations: 122

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	confers sensitivity	risk factor	not provided	total
TP53	20	205	9	5	2	0	0	0	0	233
EGFR	17	57	25	23	9	0	0	0	4	122
DICER1	12	7	27	22	20	0	0	0	1	88
BRAF	16	31	12	23	1	0	0	0	1	77
PIK3CA	8	41	6	0	0	0	0	0	0	48
KRAS	19	10	5	6	0	0	0	0	3	35
ERCC6	7	0	16	2	0	0	0	0	0	25
CTNNB1, LOC126806658	0	22	0	0	0	0	0	0	0	22
PRKN	4	2	8	5	3	0	0	0	0	22
ALK	0	12	6	2	0	0	0	0	7	21
HRAS, LRRC56	0	16	4	1	0	0	0	0	0	21
DDR2	0	6	9	1	1	0	0	0	6	18
CDKN2A	0	13	3	0	0	0	0	0	0	16
ERBB2	5	14	0	0	0	0	0	0	0	16
RB1	5	1	8	1	1	0	0	0	0	16
FBXW7	0	14	0	0	0	0	0	0	0	14
STK11	0	6	6	1	0	0	0	0	0	13
MAP2K1	3	8	1	0	0	0	0	0	0	11
NRAS	9	5	0	0	0	0	0	0	0	11
SMAD4	0	9	0	0	0	0	1	0	0	10
NFE2L2	0	9	0	0	0	0	0	0	0	9
FGFR2	0	6	2	0	0	0	0	0	0	8
MUC5AC	0	0	7	1	0	0	0	0	0	8
NLRP3	0	0	8	0	0	0	0	0	0	8
PTEN	1	4	2	0	0	0	0	0	0	7
ROS1	2	1	4	0	1	0	0	0	0	7
B2M	0	5	0	0	0	0	0	0	0	5
FGFR3	0	2	2	1	0	0	0	0	0	5
FLT1	0	0	5	0	0	0	0	0	0	5
IDH1	0	5	0	0	0	0	0	0	0	5
MLH1	0	2	3	0	0	0	0	0	0	5
XRCC1	0	0	0	0	0	4	0	0	1	5
CDK4	0	4	0	0	0	0	0	0	0	4
CREBBP	0	4	0	0	0	0	0	0	0	4
PTPN11	0	4	0	0	0	0	0	0	0	4
RIN3	0	0	4	0	0	0	0	0	0	4
ADAM19	0	0	3	0	0	0	0	0	0	3
ADGRG6	0	0	3	0	0	0	0	0	0	3
ARAF	0	3	0	0	0	0	0	0	1	3
BRAF, LOC126860202	0	0	2	1	0	0	0	0	0	3
CASP8	0	1	1	1	0	0	0	0	0	3
DNMT3A	0	3	0	0	0	0	0	0	0	3
FOXP2	0	0	3	0	0	0	0	0	0	3
FOXP4	0	0	3	0	0	0	0	0	0	3
GNAS	0	3	0	0	0	0	0	0	0	3
KIT	0	0	2	0	0	0	0	0	1	3
MYC	0	3	0	0	0	0	0	0	0	3
PDGFRA	0	0	2	1	0	0	0	0	0	3
PPP2R1A	0	3	0	0	0	0	0	0	0	3
PTCH1	0	0	2	1	0	0	0	0	0	3
TLR4	0	0	2	1	0	0	0	0	0	3
ADAMTSL3	0	0	2	0	0	0	0	0	0	2
AKT1	1	1	1	0	0	0	0	0	0	2
APC	0	1	1	0	0	0	0	0	0	2
CD163	0	0	2	0	0	0	0	0	0	2
CHEK2	0	1	1	0	0	0	0	0	0	2
EP300	0	2	0	0	0	0	0	0	0	2
EPHA2	0	2	0	0	0	0	0	0	0	2
ERCC6, PGBD3	1	0	1	0	0	0	0	0	0	2
FASLG	0	0	2	0	0	0	0	0	0	2
FGF10	1	0	1	0	0	0	0	0	0	2
H3C2	0	0	1	1	0	0	0	0	0	2
HTR4	0	0	1	1	0	0	0	0	0	2
IREB2	0	0	2	0	0	0	0	0	0	2
KMT2D	0	2	0	0	0	0	0	0	0	2
LOC126859871, PRKN	0	0	0	2	0	0	0	0	0	2
MED12	0	2	0	0	0	0	0	0	0	2
MET	1	0	1	0	0	0	0	0	0	2
MST1R	0	0	0	1	0	0	0	1	0	2
NOTCH1	0	0	0	0	0	0	0	0	2	2
PALB2	1	0	1	0	0	0	0	0	0	2
RAF1	0	2	0	0	0	0	0	0	0	2
RHOA	0	2	0	0	0	0	0	0	0	2
SLC22A18	1	0	1	0	0	0	0	0	0	2
U2AF1	0	2	0	0	0	0	0	0	0	2
ABCB1	0	0	0	0	0	0	0	0	1	1
ACTA2, PLAG1	0	1	0	0	0	0	0	0	0	1
AKT2	0	1	0	0	0	0	0	0	0	1
ALK, ARHGEF33, ATL2, BIRC6, CAPN13, CAPN14, CDC42EP3, CDKL4, CEBPZ, CRIM1, CYP1B1, DHX57, DPY30, EHD3, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GALNT14, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MEMO1, MORN2, NDUFAF7, NLRC4, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, SLC30A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SRD5A2, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, TTC27, VIT, XDH, YIPF4, YPEL5	1	0	0	0	0	0	0	0	0	1
ALK, SLMAP	1	0	0	0	0	0	0	0	0	1
ALX1	0	0	1	0	0	0	0	0	0	1
ATM	0	0	1	0	0	0	0	0	0	1
BARD1	0	0	0	1	0	0	0	0	0	1
BMP2	0	0	0	0	0	0	1	0	0	1
BRCA1	1	0	0	0	0	0	0	0	0	1
CDK12	0	1	0	0	0	0	0	0	0	1
CHRNA3	0	0	1	0	0	0	0	0	0	1
CHRNA3, CHRNA5	0	0	1	0	0	0	0	0	0	1
CHRNA5	0	0	1	0	0	0	0	0	0	1
CHRNB4	0	0	1	0	0	0	0	0	0	1
EPHA5	0	1	0	0	0	0	0	0	0	1
ERCC2	0	0	0	0	0	0	0	0	1	1
ERCC6, LOC126860933	1	0	0	0	0	0	0	0	0	1
FAM13A	0	0	1	0	0	0	0	0	0	1
FLT1, LOC124849303	0	0	1	0	0	0	0	0	0	1
FOXP4, LOC129996415	0	0	1	0	0	0	0	0	0	1
FOXP4, LOC129996416	0	0	1	0	0	0	0	0	0	1
FPR2	0	0	1	0	0	0	0	0	0	1
H3C2, LOC129996007	0	0	1	0	0	0	0	0	0	1
IRF1	1	0	0	0	0	0	0	0	0	1
LOC107303340, VHL	0	0	1	0	0	0	0	0	0	1
LOC110006318, STK11	0	0	1	0	0	0	0	0	0	1
LOC110806263, TERT	1	0	0	0	0	0	0	0	0	1
LOC126860749, TLR4	0	0	1	0	0	0	0	0	0	1
LOC126861112, MUC5AC	0	0	1	0	0	0	0	0	0	1
LOC130002133, PTCH1	0	0	1	0	0	0	0	0	0	1
LOC130062899, STK11	0	1	0	0	0	0	0	0	0	1
MSH6	0	0	1	0	0	0	0	0	0	1
NKX2-1, SFTA3	0	0	0	0	1	0	0	0	0	1
NPC1	0	0	0	0	1	0	0	0	0	1
NQO1	0	0	0	0	0	0	0	0	1	1
PACRG, PRKN	1	0	0	0	0	0	0	0	0	1
PITX2	0	0	1	0	0	0	0	0	0	1
PPM1D	0	0	1	0	0	0	0	0	0	1
PPP2R1B	1	0	0	0	0	0	0	0	0	1
PPP6C	0	1	0	0	0	0	0	0	0	1
RAD50	0	0	1	0	0	0	0	0	0	1
ROCK1	0	1	0	0	0	0	0	0	0	1
SMAD3	0	0	0	0	0	0	1	0	0	1
SMAD9	0	0	0	0	0	0	1	0	0	1
SOS1	0	1	0	0	0	0	0	0	0	1
TGFB2	0	0	1	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 44

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	confers sensitivity	risk factor	not provided	total
Database of Curated Mutations (DoCM)	46	478	0	0	0	0	0	0	26	514
Fulgent Genetics, Fulgent Genetics	35	8	63	57	7	0	0	0	0	170
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research	9	1	83	4	4	0	0	0	0	101
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	40	32	0	0	0	0	0	0	2	74
Faculté Pluridciplinaire Nador, Université Mohamed Premier	0	8	41	9	0	0	0	0	0	58
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	16	25	0	0	0	0	41
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	0	34	0	0	0	0	0	0	0	34
OMIM	22	0	0	0	0	0	0	1	0	23
Mendelics	1	0	6	13	1	0	0	0	0	21
Illumina Laboratory Services, Illumina	0	0	8	6	4	0	0	0	0	18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	3	0	13	0	0	0	0	0	0	16
Salgia Laboratory, City of Hope	6	0	6	0	0	0	0	0	0	12
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg	1	8	0	0	0	0	0	0	0	9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	3	3	0	0	0	0	0	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	2	2	4	0	0	0	0	0	0	8
Baylor Genetics	0	0	6	0	0	0	0	0	0	6
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	5	0	0	0	0	0	0	5
Kong Lab, Department of Radiation Oncology, Case Western Reserve University School of Medicine	0	0	0	0	0	0	4	0	0	4
Department Of Otolaryngology, First Affiliated Hospital Of Xinjiang Medical University	0	0	0	0	0	4	0	0	0	4
MGZ Medical Genetics Center	0	1	2	0	0	0	0	0	0	3
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI, NIH	1	2	0	0	0	0	0	0	0	3
3DMed Clinical Laboratory Inc	2	0	1	0	0	0	0	0	0	3
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	0	2	0	0	0	0	0	0	0	2
Genomic Medicine Laboratory, University of Vermont Medical Center	2	0	0	0	0	0	0	0	0	2
University Health Network, Princess Margaret Cancer Centre	1	0	1	0	0	0	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	0	0	2	2
Molecular Diagnostics Laboratory, University of Rochester Medical Center	2	0	0	0	0	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	1	0	0	0	0	1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center	1	0	0	0	0	0	0	0	0	1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases	0	1	0	0	0	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	0	0	0	0	1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center	0	1	0	0	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	1	0	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	0	0	0	0	0	1
Core Molecular Diagnostic Lab, McGill University Health Centre	1	0	0	0	0	0	0	0	0	1
Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center	1	0	0	0	0	0	0	0	0	1
Myriad Genetics, Inc.	0	1	0	0	0	0	0	0	0	1
Department of Medical Oncology, City of Hope	1	0	0	0	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	0	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	1	0	0	0	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	0	0	0	1
Department of Laboratory Medicine, Maanshan College	1	0	0	0	0	0	0	0	0	1
Biotechnology, Institute of Science, Nirma University	0	0	1	0	0	0	0	0	0	1
BioPath Innovations S.A.	0	0	1	0	0	0	0	0	0	1

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