ClinVar Miner

Variants studied for Phelan McDermid syndrome

Included ClinVar conditions (2):
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
15 3 6 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
SHANK3 12 3 6 21
​intergenic 1 0 0 1
A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CERK, CHKB, CPT1B, CRELD2, CYB5R3, CYP2D6, DENND6B, EFCAB6, FAM118A, FBLN1, GRAMD4, GTSE1, HDAC10, IL17REL, KIAA0930, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIRLET7A3, MIRLET7B, MLC1, MOV10L1, MPPED1, NAGA, NCAPH2, NDUFA6, NFAM1, NUP50, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR5, PRR5-ARHGAP8, RIBC2, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SELENOO, SERHL2, SHANK3, SHISAL1, SMC1B, SMDT1, SULT4A1, SYCE3, TAFA5, TBC1D22A, TCF20, TRABD, TRMU, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, ZBED4 1 0 0 1
ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TAFA5, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 5 0 0 5
OMIM 3 0 1 4
Mendelics 0 2 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 1 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 1
GeneReviews 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 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.