ClinVar Miner

Variants studied for strabismus

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
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
35 17 25 1 0 78

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
​intergenic 7 2 6 0 15
GNB1 4 0 0 0 4
CYFIP1 0 0 2 0 2
DHX30 2 0 0 0 2
GALC 0 2 0 0 2
MED13L 2 0 0 0 2
QARS1 0 2 0 0 2
SLC9A6 0 1 1 0 2
TOGARAM1 0 0 2 0 2
TYR 1 1 0 0 2
ABCG4, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BARX2, BCL9L, BLID, BSX, BUD13, C1QTNF5, C2CD2L, CADM1, CBL, CCDC15, CD3D, CD3E, CD3G, CDON, CENATAC, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DRC12, DSCAML1, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FXYD2, FXYD6, FXYD6-FXYD2, GRAMD1B, GRIK4, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KCNJ1, KCNJ5, KIRREL3, KMT2A, LINC02873, LOC101929473, MCAM, MFRP, MIR100, MIR125B1, MIRLET7A2, MPZL2, MPZL3, MSANTD2, NECTIN1, NFRKB, NHERF4, NLRX1, NRGN, NXPE2, NXPE4, OAF, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, POU2F3, PRDM10, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SNX19, SORL1, SPA17, SRPRA, ST14, ST3GAL4, STT3A, TAGLN, TBCEL, TBRG1, TECTA, THY1, TIRAP, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TTC36, UBASH3B, UBE4A, UPK2, USP2, VPS11, VSIG2, VWA5A, ZBTB44, ZNF202, ZPR1 0 1 0 0 1
ACVR2A, ARHGAP15, ARL5A, CACNB4, CXCR4, DARS1, EPC2, GTDC1, HNMT, KYNU, LCT, LRP1B, LYPD6, LYPD6B, MBD5, MCM6, MMADHC, NEB, NMI, NXPH2, ORC4, R3HDM1, RBM43, RIF1, RND3, SPOPL, THSD7B, TNFAIP6, UBXN4, ZEB2 1 0 0 0 1
ADGRG1 1 0 0 0 1
AHCTF1 0 0 1 0 1
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TOM1L2, TOP3A 1 0 0 0 1
ANKRD11 1 0 0 0 1
ASXL3 0 0 1 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 1
BFSP2 1 0 0 0 1
CACNA1A 0 1 0 0 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 0 1
COL1A2 0 0 1 0 1
DMBX1 0 1 0 0 1
FASN 0 0 1 0 1
FBN2 0 0 1 0 1
FOXG1 1 0 0 0 1
FOXP1 0 1 0 0 1
GFOD1, MCUR1, NOL7, PHACTR1, RANBP9, RNF182, SIRT5, TBC1D7 0 0 1 0 1
KIF7 0 1 0 0 1
KMT2D 1 0 0 0 1
LMBR1, MNX1, NOM1 0 0 1 0 1
LMBR1, RNF32 0 0 1 0 1
LSM1 0 0 1 0 1
MAFB 0 0 1 0 1
MPP4 1 0 0 0 1
NALCN 1 0 0 0 1
NF1 0 0 1 0 1
NFIX 0 1 0 0 1
NR2F1 0 0 1 0 1
PCDH19 1 0 0 0 1
POGZ 1 0 0 0 1
PTPN11 1 0 0 0 1
RSRC2 0 1 0 0 1
SIL1 1 0 0 0 1
SLC2A1 1 0 0 0 1
SMARCA4 0 0 0 1 1
SOX3 0 0 1 0 1
SOX5 0 1 0 0 1
SPART 0 1 0 0 1
STXBP1 1 0 0 0 1
TFAP2A 1 0 0 0 1
TMCO1 1 0 0 0 1
TUBB4A 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 7 7 1 24
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 7 2 6 0 15
Center for Personalized Medicine, Children's Hospital Los Angeles 1 3 2 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 1 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 3 1 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 4 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 1
Agency for Science, Technology and Research, Genome Institute of Singapore 1 0 0 0 1
Erez Levanon lab, Bar Ilan University 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 1 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 1
DASA 1 0 0 0 1

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