ClinVar Miner

Variants studied for severe neonatal-onset encephalopathy with microcephaly

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
251 26 246 371 176 1044

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MECP2 232 26 236 367 172 1009
LOC130068854, MECP2 3 0 10 4 4 19
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, RENBP, TMEM187 2 0 0 0 0 2
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, RENBP, TMEM187 2 0 0 0 0 2
FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1 2 0 0 0 0 2
IRAK1, MECP2 2 0 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, OPN1LW, PDZD4, PLXNB3, PNCK, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF275 1 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TMEM187 1 0 0 0 0 1
ARHGAP4, AVPR2, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 1
ARHGAP4, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, MECP2, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RPL10, SLC10A3, TAFAZZIN, TEX28, TKTL1, UBL4A 1 0 0 0 0 1
DNASE1L1, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 240 19 234 358 176 1027
Fulgent Genetics, Fulgent Genetics 8 1 5 11 1 26
RettBASE 9 0 4 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 1 13
OMIM 5 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 4
Baylor Genetics 2 0 1 0 0 3
Centre for Population Genomics, CPG 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 1 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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