ClinVar Miner

Variants studied for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Included ClinVar conditions (3):
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 total
26 22 447 282 44 810

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MARS1 5 4 410 265 29 707
NBAS 21 16 14 1 14 61
ARHGAP9, MARS1 0 0 19 11 1 31
MARS1, MIR6758 0 0 2 5 0 7
FARSB 0 2 0 0 0 2
AGAP2, APOF, ARHGAP9, ARHGEF25, ATP5F1B, B4GALNT1, BAZ2A, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIP, MIR616, MYO1A, NAB2, NACA, NDUFA4L2, NEMP1, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, SDR9C7, SHMT2, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TSFM, TSPAN31, ZBTB39 0 0 1 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 427 281 30 738
Genome-Nilou Lab 0 0 0 0 14 14
OMIM 12 0 0 0 0 12
Baylor Genetics 2 2 7 0 0 11
Mendelics 0 4 2 1 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 4
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 3 0 0 0 4
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 2
Antonellis Laboratory at Michigan, University of Michigan 0 2 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 2
3billion, Medical Genetics 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 1

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