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 total
38 3 66 10 53 167

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 total
FOXP2 35 1 65 10 53 161
ZGRF1 0 2 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, C7orf61, 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, FAM126A, 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, HPVC1, HSPB1, HUS1, IFRD1, IFT22, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, INHBA, INMT, ITPRID1, JAZF1, KBTBD2, KCTD7, KIAA0895, KLHL7, KLHL7-DT, KMT2E, KPNA7, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LHFPL3, LIMK1, LINC00972, LINC02860, LINC02902, LINC02903, LMTK2, LRCH4, LRRC17, LRRD1, LRRN3, LRWD1, LSM5, LSMEM1, MAGI2, MALSU1, 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, 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 1
CDH18 0 0 1 0 0 1
FOXP2, RFC3 1 0 0 0 0 1
IMMP2L, LRRN3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 61 9 52 122
GeneReviews 34 0 0 0 0 34
Baylor Genetics 0 0 3 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 1 0 0 3
OMIM 2 0 0 0 0 2
Mendelics 0 0 0 1 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Northeastern University 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 1

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