ClinVar Miner

Variants studied for Deficiency of alpha-mannosidase

Coded as:
Minimum submission review status: Collection method:
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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
176 213 456 888 55 6 1624

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MAN2B1 159 193 402 821 54 6 1479
LOC129391064, MAN2B1 7 11 15 27 1 0 54
LOC130063650, MAN2B1 5 4 26 23 0 0 52
LOC130063648, MAN2B1 2 4 12 17 0 0 34
MAN2B1, WDR83, WDR83OS 2 0 0 0 0 0 2
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
LOC130063648, LOC130063649, MAN2B1 0 1 0 0 0 0 1
MAN2B1, ZNF564 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 146 50 314 874 41 0 1425
Genome-Nilou Lab 55 10 17 30 11 0 123
Natera, Inc. 17 2 54 19 25 0 117
Baylor Genetics 35 74 4 0 0 0 113
Illumina Laboratory Services, Illumina 2 1 81 7 18 0 109
Counsyl 4 48 18 2 0 0 72
Myriad Genetics, Inc. 2 51 0 0 0 0 53
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 40 0 0 1 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 10 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 3 4 15 3 4 0 29
Revvity Omics, Revvity 8 1 7 0 0 0 16
OMIM 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 5 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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