ClinVar Miner

Variants studied for Shprintzen-Goldberg syndrome

Included ClinVar conditions (1):
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
19 6 129 42 21 208

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SKI 14 6 127 42 21 201
KIFBP 5 0 0 0 0 5
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 1
LOC112577524, SKI 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 2 124 39 19 188
OMIM 15 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 4 11 15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 9 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory,University of Chicago 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Blueprint Genetics 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
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.