ClinVar Miner

Variants studied for Adams-Oliver syndrome 5

Coded as:
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Gene type:
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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
57 25 882 1345 641 1 2717

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH1 51 25 838 1274 615 1 2579
LOC126860794, NOTCH1 2 0 31 57 20 0 102
LOC130003020, NOTCH1 0 0 8 8 3 0 18
MIR4673, NOTCH1 0 0 2 6 3 0 11
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 1 0 1 0 0 0 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 1 0 0 0 0 0 1
C9orf163, CAMSAP1, CARD9, COL5A1, DNLZ, ENTR1, FCN1, FCN2, GLT6D1, GPSM1, INPP5E, KCNT1, LCN1, LCN9, LHX3, LINC02907, MRPS2, NACC2, NOTCH1, OBP2A, OLFM1, PAEP, PIERCE1, PMPCA, PPP1R26, QSOX2, SEC16A, SNAPC4, SOHLH1, TMEM250, UBAC1 0 0 1 0 0 0 1
C9orf163, ENTR1, INPP5E, NOTCH1, PMPCA, SEC16A 1 0 0 0 0 0 1
LINC01451, LOC110121282, LOC124375245, LOC126860795, LOC130003018, LOC130003019, LOC130003020, LOC130003021, LOC130003022, LOC130003023, LOC130003024, MIR4674, NALT1, NOTCH1 1 0 0 0 0 0 1
LOC124375244, LOC126860794, LOC130003015, LOC130003016, MIR4673, NOTCH1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 35 9 706 1333 570 0 2653
Genome-Nilou Lab 0 0 217 178 191 0 586
Centre of Medical Genetics, University of Antwerp 8 2 9 0 0 0 19
Mendelics 0 1 2 6 3 0 12
Molecular and Medical Genetics Group, King's College London 5 4 1 0 0 0 10
OMIM 8 0 0 0 0 0 8
Baylor Genetics 1 1 5 0 0 0 7
University of British Columbia 0 3 0 0 1 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
ITMI 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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