ClinVar Miner

Variants studied for autoimmune interstitial lung disease-arthritis syndrome

Included ClinVar conditions (1):
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 not provided total
6 3 272 361 55 1 686

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COPA 6 3 269 361 55 1 683
ACKR1, ADAMTS4, AIM2, APCS, APOA2, ARHGAP30, ATF6, ATP1A2, ATP1A4, B4GALT3, C1orf226, CADM3, CASQ1, CD244, CD48, CD84, CFAP126, CFAP45, COPA, CRP, DCAF8, DCAF8-DT, DDR2, DEDD, DUSP12, DUSP23, F11R, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL6, FCRLA, FCRLB, HSPA6, IFI16, IGSF8, IGSF9, ITLN1, ITLN2, KCNJ10, KCNJ9, KLHDC9, LY9, MNDA, MPZ, NCSTN, NDUFS2, NECTIN4, NHLH1, NIT1, NOS1AP, NR1I3, OLFML2B, OR10J1, OR10J3, OR10J5, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, PCP4L1, PEA15, PEX19, PFDN2, PIGM, PPOX, PYHIN1, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SNHG28, SPATA46, SPTA1, TAGLN2, TOMM40L, TSTD1, UAP1, UFC1, UHMK1, USF1, USP21, VANGL2, VSIG8 0 0 1 0 0 0 1
COPA, NCSTN 0 0 1 0 0 0 1
NLRP12 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 259 358 55 0 675
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 3 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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