ClinVar Miner

Variants studied for cerebrovascular disorder

Included ClinVar conditions (35):
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 total
29 14 69 8 1 8 126

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
RNF213 2 7 34 0 1 3 44
ACTA2 3 0 5 2 0 0 10
GUCY1A1 7 0 3 0 0 0 10
APP 5 1 3 0 0 0 9
ACTA2, FAS 0 0 3 5 0 0 8
COL4A1 0 0 5 0 0 2 7
NOTCH3 1 5 1 0 0 0 7
COL4A2 0 0 1 0 0 3 4
ITM2B 2 0 2 0 0 0 4
CST3 1 0 1 0 0 0 2
ABCA13, ADCY1, AEBP1, BLVRA, C7orf57, CAMK2B, CCM2, COA1, DBNL, DDX56, GCK, H2AZ2, HECW1, HUS1, IGFBP1, IGFBP3, LINC02902, MRPS24, MYL7, MYO1G, NACAD, NPC1L1, NUDCD3, OGDH, PGAM2, PKD1L1, POLD2, POLM, PPIA, PURB, RAMP3, SNHG15, SNORA5C, SPATA48, SPDYE1, STK17A, SUN3, TBRG4, TMED4, TNS3, UBE2D4, UPP1, URGCP, VWC2, YKT6, ZMIZ2, ZPBP 1 0 0 0 0 0 1
ACE 1 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25 1 0 0 0 0 0 1
BRCC3 1 0 0 0 0 0 1
C1R 0 0 1 0 0 0 1
CACNA1A 0 0 1 0 0 0 1
CCM2 0 0 1 0 0 0 1
EOLA2, MAGEA8, MAMLD1 0 1 0 0 0 0 1
FBN2 0 0 1 0 0 0 1
HTRA1 0 0 1 0 0 0 1
KRIT1 0 0 1 0 0 0 1
LDLR 1 0 0 0 0 0 1
MT-ND4 0 0 0 1 0 0 1
MT-TL1 1 0 0 0 0 0 1
MYLK 0 0 1 0 0 0 1
NPPA 0 0 1 0 0 0 1
PIK3CA 1 0 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PSEN2 0 0 1 0 0 0 1
THSD1 1 0 0 0 0 0 1
TMEM106B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
OMIM 19 0 0 0 0 8 27
UMR-S1161,Institut national de la santé et de la recherche médicale 0 2 21 0 0 0 23
Myllykangas group,University of Helsinki 0 1 14 0 0 0 15
Illumina Clinical Services Laboratory,Illumina 0 0 7 7 0 0 14
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 3 9 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 5 0 0 0 9
Baylor Genetics 2 0 4 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 3 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Mendelics 1 0 0 0 1 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 2
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Department of Medical Genetics,University of Pecs 0 1 0 0 0 0 1
Institut national de la santé et de la recherche médicale,INSERM 0 1 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 1

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