ClinVar Miner

Variants studied for Phelan McDermid syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
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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
11 1 6 0 0 18

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SHANK3 9 1 6 16
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: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 1 4
Baylor Miraca Genetics Laboratories, 4 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 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
Fulgent Genetics 0 0 1 1
HudsonAlpha Institute for Biotechnology 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 1

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