ClinVar Miner

Variants studied for childhood apraxia of speech

Included ClinVar conditions (1):
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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 not provided total
30 7 79 12 53 13 184

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FOXP2 27 5 78 12 53 13 178
ZGRF1 0 2 0 0 0 0 2
ABCA13, ABCB1, ABCB4, ABHD11, ACHE, ACTL6B, ADAM22, ADCY1, ADCYAP1R1, AEBP1, AGFG2, AKAP9, ALKBH4, AMPH, ANKIB1, ANLN, AOAH, AP1S1, AP4M1, AQP1, ARMC10, ARPC1A, ARPC1B, ASB4, ASL, ASNS, ATP5MF, ATP5MF-PTCD1, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BHLHA15, BLVRA, BMPER, BMT2, BRI3, BUD23, BUD31, C7orf25, C7orf31, C7orf57, C7orf76, CACNA2D1, CALCR, CALN1, CAMK2B, CASD1, CASTOR2, CBLL1, CBX3, CCDC126, CCDC146, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CD36, CDCA7L, CDHR3, CDK13, CDK14, CDK6, CFAP69, CHCHD2, CHN2, CLDN12, CLDN15, CLDN3, CLDN4, CLIP2, CNPY4, COA1, COBL, COG5, COL1A2, COL26A1, COPS6, CPSF4, CPVL, CRCP, CREB5, CRHR2, CROT, CUX1, CYCS, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP51A1, DBF4, DBNL, DDC, DDX56, DLD, DLX5, DLX6, DMTF1, DNAH11, DNAJB9, DNAJC2, DNAJC30, DOCK4, DPY19L1, DTX2, DUS4L, DYNC1I1, EEPD1, EGFR, EIF4H, ELAPOR2, ELMO1, ELN, EPDR1, EPHB4, EPO, ERV3-1, ERVW-1, EVX1, FAM133B, FAM185A, FAM200A, FAM221A, FBXL13, FBXO24, FGL2, FIGNL1, FIS1, FKBP14, FKBP6, FKBP9, FOXP2, FZD1, FZD9, GAL3ST4, GALNT17, GARS1, GATAD1, GCK, GGCT, GHRHR, GIGYF1, GJC3, GLI3, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPNMB, GPR141, GPR22, GPR85, GRB10, GRM3, GSAP, GSDME, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AZ2, HBP1, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HGF, HIBADH, HIP1, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HSPB1, HUS1, HYCC1, IFRD1, IFT22, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, INHBA, INMT, ITPRID1, JAZF1, KBTBD2, KCTD7, KLHL7, KLHL7-DT, KMT2E, KPNA7, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LHFPL3, LIMK1, LINC02860, LINC02902, LINC02903, LMTK2, LRCH4, LRRC17, LRRD1, LRRN3, LRWD1, LSM5, LSMEM1, MAGI2, MALSU1, MATCAP2, MBLAC1, MCM7, MDH2, MEPCE, METTL27, MINDY4, MIR106B, MIR148A, MIR196B, MIR25, MIR489, MIR590, MIR93, MLXIPL, MOGAT3, MOSPD3, MPLKIP, MRPL32, MRPS17, MRPS24, MTERF1, MTURN, MUC12, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOD1, NPC1L1, NPSR1, NPTX2, NPVF, NPY, NRCAM, NSUN5, NT5C3A, NUDCD3, NUP42, NUPR2, NYAP1, OCM2, OGDH, OR2AE1, ORAI2, ORC5, OSBPL3, PALS2, PCLO, PCOLCE, PDAP1, PDE1C, PDK4, PEG10, PEX1, PGAM2, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLOD3, PMPCB, PNPLA8, POLD2, POLM, POLR2J, POLR2J2, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POU6F2, PPIA, PPP1R17, PPP1R35, PPP1R3A, PPP1R9A, PRKAR2B, PRKRIP1, PRR15, PSMA2, PSMC2, PSPH, PTCD1, PTPN12, PURB, PUS7, PVRIG, RABGEF1, RALA, RAMP3, RAPGEF5, RASA4, RASA4B, RBM48, RCC1L, RELN, RFC2, RHBDD2, RINT1, RP9, RSBN1L, RUNDC3B, SAMD9, SAMD9L, SAP25, SBDS, SCRN1, SDHAF3, SEC61G, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SERPINE1, SFRP4, SGCE, SH2B2, SKAP2, SLC12A9, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A5, SMURF1, SNHG15, SNORA5C, SNX10, SP4, SPACDR, SPATA48, SPDYE1, SPDYE2, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SRI, SRPK2, SRRM3, SRRT, SSC4D, STAG3, STARD3NL, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN3, SYPL1, TAC1, TAF6, TARP, TAX1BP1, TBL2, TBRG4, TBX20, TECPR1, TEX47, TFPI2, TFR2, THAP5, TMED4, TMEM120A, TMEM130, TMEM168, TMEM243, TMEM248, TMEM270, TMEM60, TNS3, TOMM7, TPST1, TRA2A, TRAPPC14, TRIL, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRRAP, TSC22D4, TYW1, TYW1B, UBE2D4, UFSP1, UPK3BL1, UPP1, URGCP, VGF, VKORC1L1, VOPP1, VPS37D, VPS41, VPS50, VSTM2A, VWC2, WIPF3, YAE1, YKT6, YWHAG, ZAN, ZASP, ZCWPW1, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF273, ZNF277, ZNF3, ZNF394, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF735, ZNF736, ZNF789, ZNF804B, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZSCAN21, ZSCAN25 1 0 0 0 0 0 1
CDH18 0 0 1 0 0 0 1
FOXP2, RFC3 1 0 0 0 0 0 1
IMMP2L, LRRN3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 61 9 52 0 123
GeneReviews 21 0 0 0 0 13 34
Fulgent Genetics, Fulgent Genetics 0 1 2 3 1 0 7
Revvity Omics, Revvity 0 0 5 0 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Northeastern University 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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