ClinVar Miner

Variants in gene SERPINA1

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 other not provided total
44 25 107 51 15 33 1 216

Condition and significance breakdown #

Total conditions: 57
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Alpha-1-antitrypsin deficiency 44 25 55 51 9 0 1 160
not provided 6 2 63 0 0 2 0 72
not specified 0 0 1 1 10 0 0 12
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency 2 1 0 0 0 0 0 3
Inborn genetic diseases 1 0 1 0 0 0 0 2
PI M1-ALA213 0 0 0 0 2 0 0 2
FRAXE 1 0 0 0 0 0 0 1
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 1 0 0 0 0 0 0 1
PI B(ALHAMBRA) 0 0 0 0 0 1 0 1
PI CHRISTCHURCH 0 0 0 0 0 1 0 1
PI F 0 0 0 0 0 1 0 1
PI I 0 0 0 0 0 1 0 1
PI KALSHEKER-POLLER 0 0 0 0 0 1 0 1
PI M(HEERLEN) 0 0 0 0 0 1 0 1
PI M(MALTON) 0 0 0 0 0 1 0 1
PI M(MINERAL SPRINGS) 0 0 0 0 0 1 0 1
PI M(NICHINAN) 0 0 0 0 0 1 0 1
PI M(PROCIDA) 0 0 0 0 0 1 0 1
PI M2 0 0 0 0 0 1 0 1
PI M3 0 0 0 0 0 1 0 1
PI M4 0 0 0 0 0 1 0 1
PI NULL(BELLINGHAM) 0 0 0 0 0 1 0 1
PI NULL(BOLTON) 0 0 0 0 0 1 0 1
PI NULL(CARDIFF) 0 0 0 0 0 1 0 1
PI NULL(DEVON) 0 0 0 0 0 1 0 1
PI NULL(HONG KONG 1) 0 0 0 0 0 1 0 1
PI NULL(HONG KONG 2) 0 0 0 0 0 1 0 1
PI NULL(LUDWIGSHAFEN) 0 0 0 0 0 1 0 1
PI NULL(MATTAWA) 0 0 0 0 0 1 0 1
PI NULL(NEWPORT) 0 0 0 0 0 1 0 1
PI NULL(PROCIDA) 0 0 0 0 0 1 0 1
PI NULL(RIEDENBURG) 0 0 0 0 0 1 0 1
PI NULL(WEST) 0 0 0 0 0 1 0 1
PI P(DUARTE) 0 0 0 0 0 1 0 1
PI P(LOWELL) 0 0 0 0 0 1 0 1
PI P(ST. ALBANS) 0 0 0 0 0 1 0 1
PI Q0(BELLINGHAM) 0 0 0 0 0 1 0 1
PI Q0(BOLTON) 0 0 0 0 0 1 0 1
PI Q0(CARDIFF) 0 0 0 0 0 1 0 1
PI Q0(DEVON) 0 0 0 0 0 1 0 1
PI Q0(GRANITE FALLS) 0 0 0 0 0 1 0 1
PI Q0(HONG KONG 1) 0 0 0 0 0 1 0 1
PI Q0(LUDWIGSHAFEN) 0 0 0 0 0 1 0 1
PI Q0(NEWPORT) 0 0 0 0 0 1 0 1
PI Q0(WEST) 0 0 0 0 0 1 0 1
PI S 0 0 0 0 0 1 0 1
PI S(IIYAMA) 0 0 0 0 0 1 0 1
PI V(MUNICH) 0 0 0 0 0 1 0 1
PI W(BETHESDA) 0 0 0 0 0 1 0 1
PI X 0 0 0 0 0 1 0 1
PI Z 0 0 0 0 0 1 0 1
PI Z(AUGSBURG) 0 0 0 0 0 1 0 1
PI Z(BRISTOL) 0 0 0 0 0 1 0 1
PI Z(TUN) 0 0 0 0 0 1 0 1
PI Z(WREXHAM) 0 0 0 0 0 1 0 1
PI, M1A 0 0 0 0 1 0 0 1
PI, M1V 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 2 61 1 5 2 0 76
Illumina Clinical Services Laboratory,Illumina 4 1 41 14 1 0 0 61
HerediLab, Inc. 14 0 2 30 0 0 0 46
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 22 5 5 0 8 0 0 40
OMIM 2 0 0 0 2 33 0 36
Counsyl 4 17 8 0 0 0 0 29
GeneReviews 13 0 0 0 1 0 0 14
Invitae 5 1 0 6 1 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 1 0 6 0 1 10
PreventionGenetics 0 0 0 0 8 0 0 8
CSER_CC_NCGL; University of Washington Medical Center 2 2 2 1 0 0 0 7
GeneDx 3 1 2 0 0 0 0 6
Fulgent Genetics 2 1 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 1 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 0 2
Ambry Genetics 1 0 1 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 0 1
Pôle de Biologie Pathologie Génétique,CHRU LILLE 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.