ClinVar Miner

Variants studied for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Coded as:
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
22 32 62 0 14 9 128

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
TRIO 21 30 59 13 8 120
LOC126807323, TRIO 0 0 3 1 1 5
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2154B17.1, CTD-2194D22.4, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02162, LINC02199, LINC02212, LINC02213, LINC02220, LINC02221, LINC02226, LINC02236, LINC02982, LOC100506858, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC107457585, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997586, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC124901163, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC128772262, LOC128772263, LOC128772264, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC132089161, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132205959, LPCAT1, LRRC14B, LSINCT5, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR6075, MIR6131, MNS16A, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-OT1, SNHG18, SNORD123, SRD5A1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B 1 0 0 0 0 1
LOC126807321, TRIO 0 1 0 0 0 1
LOC126807322, TRIO 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Baylor Genetics 2 1 17 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 4 8 6 0 0 18
Genome-Nilou Lab 0 0 0 13 0 13
OMIM 9 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 7 0 0 9
MVZ Medizinische Genetik Mainz 1 4 3 0 0 8
GeneReviews 0 0 0 0 7 7
Illumina Laboratory Services, Illumina 0 0 6 0 0 6
SIB Swiss Institute of Bioinformatics 4 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 4 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 4 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 3
3billion 2 0 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Mendelics 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
New York Genome Center 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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