ClinVar Miner

Variants studied for cerebral cortex disorder

Included ClinVar conditions (24):
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 risk factor other total
94 49 258 174 34 7 1 601

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
PSEN1 51 16 73 51 13 0 0 203
GAD1 1 2 83 85 15 0 0 174
KANK1 0 0 65 33 3 0 0 101
HPDL 12 4 5 1 0 0 0 21
MAPT 7 0 8 3 1 0 0 19
GAD1, LOC132088794 0 0 5 1 2 0 0 8
ADD3 3 1 2 0 0 0 0 4
COL4A2 0 4 0 0 0 0 0 4
KANK1, LOC126860554 0 0 4 0 0 0 0 4
SPAST 1 1 0 0 0 0 1 3
​intergenic 0 1 1 0 0 0 0 2
COL4A1 1 1 0 0 0 0 0 2
F2 0 0 0 0 0 2 0 2
GAD1, LOC129935083 0 0 2 0 0 0 0 2
PMM2 2 0 0 0 0 0 0 2
TUBA1A 1 0 1 0 0 0 0 2
TUBB4A 1 1 0 0 0 0 0 2
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
ALDH3A2 1 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 1 0 1
ARFGEF1-DT, CPA6 0 1 0 0 0 0 0 1
ARHGAP31 0 1 0 0 0 0 0 1
ASTN2, TRIM32 0 0 0 0 0 1 0 1
ATP10A, CYFIP1, GOLGA6L1, GOLGA6L2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 0 0 0 0 0 1 0 1
BRCA2 0 1 0 0 0 0 0 1
BUB1B 0 0 1 0 0 0 0 1
CACNA1A 0 1 0 0 0 0 0 1
CACNA1C 0 1 0 0 0 0 0 1
CC2D1A, LOC129391070 0 1 0 0 0 0 0 1
CLCN1 1 0 0 0 0 0 0 1
CLCN2 0 1 0 0 0 0 0 1
EGFR 0 0 1 0 0 0 0 1
F8 0 0 0 0 0 1 0 1
FBXO31 0 1 0 0 0 0 0 1
GALC 0 0 1 0 0 0 0 1
GNB1 1 0 0 0 0 0 0 1
GPHN, PALS1 1 0 0 0 0 0 0 1
GRIN2B 0 1 0 0 0 0 0 1
HPDL, LOC129930439 1 0 0 0 0 0 0 1
HPDL, LOC129930440 1 0 0 0 0 0 0 1
HTT 0 0 1 0 0 0 0 1
IDH3G 0 0 1 0 0 0 0 1
ISCA2 0 1 0 0 0 0 0 1
KANK1, LOC124210605, LOC126860553, LOC126860554, LOC129390062 1 0 0 0 0 0 0 1
KIDINS220 0 1 0 0 0 0 0 1
KLHL3 0 1 0 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 1
NCKAP1 0 0 1 0 0 0 0 1
NECTIN2 0 0 1 0 0 0 0 1
NKX2-6 0 0 0 0 0 1 0 1
PDGFRB 0 1 0 0 0 0 0 1
PIEZO2 0 0 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 0 0 1
PROC 0 1 0 0 0 0 0 1
RNASEH2B 1 0 0 0 0 0 0 1
SAMHD1 1 0 0 0 0 0 0 1
SETX 0 1 0 0 0 0 0 1
SMARCA4 1 0 0 0 0 0 0 1
SYNE2 1 0 0 0 0 0 0 1
TARS2 0 0 1 0 0 0 0 1
TTN 0 1 0 0 0 0 0 1
ZDHHC15 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Invitae 49 15 116 133 21 0 0 334
Fulgent Genetics, Fulgent Genetics 5 2 60 36 3 0 0 106
Illumina Laboratory Services, Illumina 0 0 46 4 13 0 0 63
Neurogenetics Research Program, University of Adelaide 11 18 6 0 0 7 1 43
OMIM 21 0 1 0 0 0 0 22
Baylor Genetics 1 1 8 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 5 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 1 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 2 1 0 0 0 0 3
Mendelics 2 0 0 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 2 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 1 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Kruer lab, Phoenix Children's Hospital 0 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Centre de recherche CHU de Quebec-Universite Laval, Laval University 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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