ClinVar Miner

Variants studied for Severe neonatal-onset encephalopathy with microcephaly

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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 total
247 22 242 358 176 1038

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 228 22 232 355 172 1003
LOC130068854, MECP2 3 0 10 3 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: 17
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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
RettBASE 9 0 4 0 0 13
OMIM 5 0 0 0 0 5
Centre for Population Genomics, CPG 1 1 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1

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