ClinVar Miner

Variants studied for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 likely risk allele risk factor not provided total
296 145 2584 3230 228 4 108 1 12 6454

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor not provided total
RTEL1, RTEL1-TNFRSF6B 122 56 1001 1642 101 0 12 0 0 2906
TERT 88 49 1088 1186 67 1 46 0 7 2436
PARN 33 26 334 281 25 0 10 0 1 696
LOC110806263, TERT 11 1 86 99 3 0 6 0 4 200
SFTPC 0 1 8 12 13 0 5 0 0 37
LOC110806306, TERC 12 2 3 2 0 0 8 0 0 24
RTEL1 9 5 5 0 0 0 0 0 0 19
ABCA3 0 3 12 0 0 0 0 0 0 15
MUC5B 0 0 8 4 2 0 0 1 0 15
SFTPA2 5 2 4 0 4 0 1 0 0 15
KIF15 0 0 0 0 0 0 11 0 0 11
BMP1, SFTPC 0 0 0 1 8 0 0 0 0 9
ZCCHC8 1 0 5 1 2 0 0 0 0 9
NAF1 3 0 0 0 0 0 4 0 0 7
BMP1, LOC129999976, SFTPC 0 0 1 1 2 0 0 0 0 4
NKX2-1, SFTA3 0 0 4 0 0 0 0 0 0 4
RPA1 3 0 1 0 0 0 0 0 0 4
AHRR, BRD9, CEP72, EXOC3, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 2 0 1 0 0 0 0 0 0 3
LOC110806263, LOC110806264, LOC123493259, TERT 0 0 3 0 0 0 0 0 0 3
RTEL1, TNFRSF6B 1 0 2 0 0 0 0 0 0 3
TERC 1 0 0 0 0 0 2 0 0 3
DKC1 0 0 0 0 0 0 2 0 0 2
LOC110806264, TERT 0 0 0 1 1 0 0 0 0 2
TOLLIP 0 0 1 0 0 1 0 0 0 2
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 0 0 1 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B 1 0 0 0 0 0 0 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 0 0 1 0 0 0 0 0 0 1
CLPTM1L, TERT 0 0 1 0 0 0 0 0 0 1
CTC1 0 0 1 0 0 0 0 0 0 1
DSP 0 0 0 0 0 1 0 0 0 1
DTNBP1 0 0 1 0 0 0 0 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 0 0 0 1
FAM13A 0 0 0 0 0 1 0 0 0 1
HPS4 0 0 1 0 0 0 0 0 0 1
IL1RN 0 0 1 0 0 0 0 0 0 1
LAMA3 0 0 1 0 0 0 0 0 0 1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 0 1
MMP1 0 0 1 0 0 0 0 0 0 1
MMP19 0 0 1 0 0 0 0 0 0 1
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13 0 0 1 0 0 0 0 0 0 1
NKX2-1 0 0 1 0 0 0 0 0 0 1
NOP10 1 0 0 0 0 0 0 0 0 1
POT1 1 0 0 0 0 0 0 0 0 1
RTKN2 0 0 1 0 0 0 0 0 0 1
SFTPA1 0 0 1 0 0 0 0 0 0 1
SLC6A18, SLC6A19, TERT 0 0 1 0 0 0 0 0 0 1
TINF2 0 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 230 102 2469 3204 167 0 0 0 0 6172
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 13 11 0 0 0 0 108 0 0 124
Illumina Laboratory Services, Illumina 0 0 32 25 59 0 0 0 0 116
Fulgent Genetics, Fulgent Genetics 2 5 48 14 3 0 0 0 0 72
OMIM 49 0 0 0 0 0 0 0 0 49
Johns Hopkins Genomics, Johns Hopkins University 3 5 33 1 0 0 0 0 0 42
Genome-Nilou Lab 0 0 0 2 30 0 0 0 0 32
Alder lab, University of Pittsburgh 1 3 20 0 0 0 0 0 0 24
University of Washington Center for Mendelian Genomics, University of Washington 9 4 8 0 0 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 13 2 0 0 0 0 0 17
GeneReviews 3 0 0 0 0 0 0 0 10 13
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 2 2 8 0 0 0 0 0 0 12
Baylor Genetics 0 1 8 0 0 0 0 0 0 9
Mendelics 0 1 4 2 2 0 0 0 0 9
Degerman lab, Umeå University 5 2 1 0 0 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 3 1 0 0 0 0 0 5
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 1 0 0 4 0 0 0 5
Godley laboratory, The University of Chicago 2 2 1 0 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 2 0 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 2 0 0 0 0 0 0 2
New York Genome Center 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
Epi-/Genome lab, Department of Hematology, Rigshospitalet 1 1 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 1

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