ClinVar Miner

Variants studied for chromosome 8 disorder

Included ClinVar conditions (6):
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 not provided total
41 25 16 4 1 2 82

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PUF60 31 24 14 2 1 2 68
LOC126860549, PUF60 1 1 2 0 0 0 3
TRPS1 2 0 0 0 0 0 2
ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADGRA2, ADRA1A, ADRB3, AGPAT5, ANGPT2, ANK1, AP3M2, ARHGEF10, ASAH1, ASH2L, ATP6V1B2, BAG4, BIN3, BLK, BMP1, BNIP3L, BRF2, C8orf48, C8orf58, C8orf74, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CHRNA6, CHRNB3, CLDN23, CLN8, CLU, CNOT7, CSGALNACT1, CSMD1, CTSB, DCTN6, DDHD2, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DKK4, DLC1, DLGAP2, DMTN, DOCK5, DOK2, DPYSL2, DUSP26, DUSP4, EBF2, EGR3, EIF4EBP1, ELP3, ENTPD4, EPHX2, ERI1, ERICH1, ERLIN2, ESCO2, EXTL3, FAM167A, FAM86B1, FAM86B2, FBXO16, FBXO25, FDFT1, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FUT10, FZD3, GATA4, GFRA2, GINS4, GNRH1, GOLGA7, GOT1L1, GPAT4, GSR, GTF2E2, HGSNAT, HMBOX1, HOOK3, HR, HTRA4, IDO1, IDO2, IKBKB, INTS10, INTS9, KAT6A, KBTBD11, KCNU1, KCTD9, KIF13B, LEPROTL1, LETM2, LGI3, LINC03042, LONRF1, LOXL2, LPL, LSM1, LZTS1, MAK16, MBOAT4, MCPH1, MFHAS1, MICU3, MIR124-1, MIR320A, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MYOM2, NAT1, NAT2, NEFL, NEFM, NEIL2, NKX2-6, NKX3-1, NKX6-3, NPM2, NRG1, NSD3, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PIWIL2, PLAT, PLEKHA2, PLPBP, PLPP5, PNMA2, PNOC, POLB, POLR3D, POMK, PPP1R3B, PPP2CB, PPP2R2A, PPP3CC, PRSS51, PRSS55, PSD3, PTK2B, PURG, R3HCC1, RAB11FIP1, RBPMS, REEP4, RHOBTB2, RNF122, RNF170, RP1L1, SARAF, SCARA3, SCARA5, SFRP1, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC20A2, SLC25A37, SLC35G5, SLC39A14, SLC7A2, SMIM18, SMIM19, SORBS3, SOX7, SPAG11A, SPAG11B, STAR, STC1, STMN4, TACC1, TCIM, TDRP, TEX15, THAP1, TM2D2, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRIM35, TRMT9B, TTI2, TUSC3, UBXN8, UNC5D, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VDAC3, VPS37A, WRN, XKR5, XKR6, XPO7, ZDHHC2, ZMAT4, ZNF395, ZNF596, ZNF703, ZNF705B, ZNF705D, ZNF705G 1 0 0 0 0 0 1
ADCY8, AGO2, ASAP1, ASAP1-IT1, C8orf17, CCN4, CHRAC1, COL22A1, DENND3, DNAAF11, EFR3A, FAM135B, GPR20, HHLA1, KCNK9, KCNQ3, KHDRBS3, MROH5, NDRG1, OC90, PHF20L1, PTK2, PTP4A3, SLA, SLC45A4, ST3GAL1, TG, TMEM71, TRAPPC9, TSNARE1, ZFAT 1 0 0 0 0 0 1
ANXA13, FAM91A1, FBXO32, FER1L6, KLHL38, LRATD2, MTSS1, MYC, NDUFB9, NSMCE2, PCAT1, POU5F1B, PVT1, RNF139, SQLE, TATDN1, TMEM65, TRIB1, TRMT12, WASHC5, ZNF572 1 0 0 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, ERI1, FAM167A, FAM86B1, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, SPAG11A, SPAG11B, TNKS, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, XKR6, ZNF705B, ZNF705D, ZNF705G 1 0 0 0 0 0 1
CA1, CA13, CA2, CA3, CHMP4C, CRISPLD1, E2F5, FABP12, FABP4, FABP5, FABP9, HEY1, HNF4G, IL7, IMPA1, LRRCC1, MRPS28, PAG1, PEX2, PKIA, PMP2, PSKH2, RALYL, RBIS, SLC10A5, SNX16, STMN2, TPD52, ZBTB10, ZC2HC1A, ZFAND1, ZFHX4, ZNF704 1 0 0 0 0 0 1
CYC1, EPPK1, EXOSC4, GPAA1, GRINA, HGH1, MAF1, MIR661, NRBP2, OPLAH, PARP10, PLEC, PUF60, SCRIB, SHARPIN, SPATC1 1 0 0 0 0 0 1
EXT1 0 0 0 1 0 0 1
EXT1, LOC130001002 0 0 0 1 0 0 1
STMN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 0 3 6 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 1 0 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 3 0 4 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 1 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 4 0 0 0 0 5
Mendelics 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 1 0 0 0 4
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1

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