Bioscientia Institut fuer Medizinische Diagnostik GmbH (Sonic Healthcare)

General information

Bioscientia Institut fuer Medizinische Diagnostik GmbH
Sonic Healthcare
Konrad-Adernauer-Strasse 17
Ingelheim
Rheinland-Pfalz
Germany - 55218
http://www.bioscientia.de/en/
Organization ID: 505827

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 1152

    Gene

    GeneSubmissionsLast Updated
    ABCA414Mar 6, 2020
    ABCC81Oct 10, 2016
    ABHD121Oct 10, 2016
    ACADVL1Dec 20, 2017
    ACAN1Mar 13, 2019
    ACTN21Mar 6, 2020
    ACTN46Mar 6, 2020
    ADA21Dec 20, 2017
    ADAMTS132Apr 20, 2017
    ADGRV16Mar 6, 2020
    AGL3Dec 20, 2017
    ALAD1Dec 20, 2017
    ALDOB2Apr 20, 2017
    ALMS12Mar 6, 2020
    ALPL5Dec 22, 2020
    AMN2Dec 22, 2020
    ANK11Mar 6, 2020
    ANLN4Mar 6, 2020
    ANOS11Apr 20, 2017
    APC2Mar 13, 2019
    ARG11Dec 22, 2020
    ARHGAP241Dec 20, 2017
    ASS11Sep 19, 2018
    ATP1A11Dec 22, 2020
    ATP1A1-AS11Dec 22, 2020
    ATP6V0A41Mar 13, 2019
    ATP6V1B11Mar 13, 2019
    AVP1Dec 7, 2016
    AVPR21Apr 20, 2017
    AXDND13Mar 13, 2019
    B3GALT61Dec 20, 2017
    BBS11Dec 20, 2017
    BBS41Jan 24, 2017
    BBS91Oct 10, 2016
    BCKDHA1Dec 7, 2016
    BCKDHB2Jan 24, 2017
    BEST17Mar 6, 2020
    BICC12Dec 22, 2020
    BRCA19Mar 13, 2019
    BRCA23Mar 13, 2019
    BSCL21Dec 7, 2016
    BSND1Dec 22, 2020
    BVES1Mar 13, 2019
    C12orf432Dec 20, 2017
    C1S1Mar 6, 2020
    C21Mar 6, 2020
    C38Dec 22, 2020
    C72Mar 13, 2019
    C8B1Mar 6, 2020
    C91Mar 6, 2020
    CA21Dec 20, 2017
    CABP41Mar 13, 2019
    CACNA1A1Mar 6, 2020
    CACNA1F1Dec 7, 2016
    CACNB21Mar 6, 2020
    CAPN32Dec 22, 2020
    CASR6Dec 22, 2020
    CBLIF1Mar 6, 2020
    CBS1Dec 20, 2017
    CD2AP5Mar 6, 2020
    CD468Mar 6, 2020
    CDH232Sep 19, 2018
    CDK131Mar 13, 2019
    CDKN1C1Jan 24, 2017
    CEP1642Dec 22, 2020
    CEP2902Mar 6, 2020
    CERKL3Mar 6, 2020
    CFB6Mar 6, 2020
    CFH14Mar 6, 2020
    CFI10Mar 6, 2020
    CHD12Mar 13, 2019
    CHD21Mar 6, 2020
    CHD72Dec 20, 2017
    CHD81Mar 13, 2019
    CHM3Mar 13, 2019
    CLCN53Dec 22, 2020
    CLCN71Apr 20, 2017
    CLCNKB2Dec 22, 2020
    CLDN141Sep 19, 2018
    CLDN161Apr 20, 2017
    CLRN12Dec 22, 2020
    CNGA32Mar 6, 2020
    CNGB11Dec 7, 2016
    CNGB31Mar 6, 2020
    CNNM42Mar 6, 2020
    COL17A11Dec 20, 2017
    COL1A18Dec 22, 2020
    COL1A21Sep 19, 2018
    COL2A14Mar 6, 2020
    COL4A366Dec 22, 2020
    COL4A482Dec 22, 2020
    COL4A584Dec 22, 2020
    COL5A21Apr 20, 2017
    COL7A11Dec 7, 2016
    COMP2Dec 22, 2020
    COQ22Mar 6, 2020
    COQ61Mar 6, 2020
    COQ8B1Sep 19, 2018
    CR22Mar 6, 2020
    CRB11Oct 10, 2016
    CRB26Mar 6, 2020
    CREBBP2Dec 20, 2017
    CRX2Mar 6, 2020
    CSRP31Mar 6, 2020
    CTNNB11Mar 13, 2019
    CUBN23Mar 6, 2020
    CYP11B12Dec 20, 2017
    CYP24A11Dec 22, 2020
    DDX112Dec 22, 2020
    DGKE7Mar 6, 2020
    DIAPH11Sep 19, 2018
    DNAH51Dec 20, 2017
    DNAJB111Dec 22, 2020
    DRAM21Dec 7, 2016
    DSP1Sep 19, 2018
    DSTYK1Mar 6, 2020
    DYM1Dec 22, 2020
    EDA1Dec 20, 2017
    EHMT12Dec 22, 2020
    EIF2AK31Dec 20, 2017
    ELP41Apr 20, 2017
    ENTPD51Mar 6, 2020
    EPG51Dec 7, 2016
    ERF1Mar 13, 2019
    ETFDH1Dec 20, 2017
    EVC2Dec 20, 2017
    EYA13Mar 6, 2020
    EYS8Dec 22, 2020
    FAH1Mar 13, 2019
    FANCA1Mar 13, 2019
    FBN22Mar 6, 2020
    FECH1Dec 22, 2020
    FGFR22Dec 22, 2020
    FGFR33Sep 19, 2018
    FKBP101Apr 20, 2017
    FLCN1Mar 6, 2020
    FLNA1Dec 7, 2016
    FN11Mar 6, 2020
    FOXL22Mar 6, 2020
    FREM22Dec 20, 2017
    GAA3Dec 20, 2017
    GCDH2Dec 22, 2020
    GCK3Dec 20, 2017
    GDF51Oct 10, 2016
    GDF5-AS11Oct 10, 2016
    GGCX2Dec 22, 2020
    GHR1Dec 22, 2020
    GJA11Mar 6, 2020
    GLA4Dec 22, 2020
    GLI21Dec 20, 2017
    GNPTAB1Dec 22, 2020
    GPR1791Sep 19, 2018
    GRHPR1Mar 6, 2020
    GRIN11Dec 22, 2020
    GRXCR11Dec 20, 2017
    GUCA1A1Mar 6, 2020
    GUCY2D2Mar 13, 2019
    HADHB1Sep 19, 2018
    HBA21Mar 13, 2019
    HBB2Mar 6, 2020
    HECW21Mar 13, 2019
    HEXB1Jan 24, 2017
    HNF1A2Dec 20, 2017
    HNF1B4Dec 22, 2020
    HNF4A1Jan 24, 2017
    HNRNPUL2-BSCL21Dec 7, 2016
    HOGA13Dec 20, 2017
    HPGD2Sep 19, 2018
    HSD11B21Apr 20, 2017
    HUWE11Sep 19, 2018
    IFITM51Sep 19, 2018
    IFT1402Mar 13, 2019
    IFT271Dec 22, 2020
    IGF11Mar 6, 2020
    IMPDH11Mar 6, 2020
    IMPG23Sep 19, 2018
    INF216Dec 22, 2020
    ITGA41Dec 20, 2017
    JAG12Dec 7, 2016
    JPH21Mar 6, 2020
    KCND31Apr 20, 2017
    KCNE21Mar 6, 2020
    KCNH21Mar 6, 2020
    KCNQ15Dec 22, 2020
    KCNQ21Dec 22, 2020
    KDM1A1Dec 22, 2020
    KIAA05861Mar 6, 2020
    KIF112Mar 6, 2020
    KIF1A1Mar 6, 2020
    KIF221Dec 22, 2020
    KIRREL21Jan 24, 2017
    KMT2A1Mar 6, 2020
    KMT2C1Mar 13, 2019
    KMT2D3Mar 13, 2019
    KRT11Apr 20, 2017
    KRT51Apr 20, 2017
    LAMB26Mar 6, 2020
    LDLR2Apr 20, 2017
    LMNA1Mar 6, 2020
    LMX1B6Mar 6, 2020
    LOC1027240581Dec 22, 2020
    LOC10537104920Dec 22, 2020
    LOC1053715662Sep 19, 2018
    LOC1060990621Oct 10, 2016
    LOC1065017132Dec 22, 2020
    LOC1067998332Dec 20, 2017
    LOC1068046121Mar 13, 2019
    LOC1071335102Mar 6, 2020
    LOC1075481121Apr 20, 2017
    LOC1076524451Mar 13, 2019
    LOC1079822342Dec 20, 2017
    LOC1100063191Mar 6, 2020
    LOC1118119651Dec 7, 2016
    LOC1181427571Mar 6, 2020
    LRP52Dec 22, 2020
    LRRK21Apr 20, 2017
    MARS11Mar 13, 2019
    MBTPS21Dec 22, 2020
    MCCC21Dec 20, 2017
    MECP21Jan 24, 2017
    MERTK2Mar 13, 2019
    MFF-DT66Dec 22, 2020
    MITF1Mar 6, 2020
    MKKS2Dec 22, 2020
    MLH11Dec 7, 2016
    MMAB1Dec 20, 2017
    MMACHC1Apr 20, 2017
    MMUT2Dec 22, 2020
    MPDZ2Mar 6, 2020
    MYBPC34Dec 22, 2020
    MYCN1Mar 6, 2020
    MYH71Mar 13, 2019
    MYH910Mar 6, 2020
    MYO15A3Sep 19, 2018
    MYO7A4Mar 6, 2020
    NEK91Mar 6, 2020
    NEUROD11Mar 13, 2019
    NEXN1Sep 19, 2018
    NF111Dec 22, 2020
    NF21Dec 22, 2020
    NIPBL1Mar 6, 2020
    NLGN4X1Mar 6, 2020
    NMNAT11Mar 13, 2019
    NOC3L1Oct 10, 2016
    NOG1Sep 19, 2018
    NOTCH23Mar 6, 2020
    NOTCH32Dec 20, 2017
    NPHP44Mar 6, 2020
    NPHS16Dec 22, 2020
    NPHS210Mar 6, 2020
    NR2E31Mar 6, 2020
    NR3C21Dec 20, 2017
    NSD12Dec 22, 2020
    NUP935Mar 6, 2020
    OAT2Mar 6, 2020
    OCRL1Mar 6, 2020
    OFD11Mar 6, 2020
    OSGEP1Sep 19, 2018
    OTOGL1Mar 13, 2019
    P3H11Dec 20, 2017
    P3H21Mar 13, 2019
    PACS21Mar 13, 2019
    PALB21Dec 7, 2016
    PAX25Mar 6, 2020
    PAX41Apr 20, 2017
    PAX62Apr 20, 2017
    PBX13Dec 22, 2020
    PCARE1Mar 6, 2020
    PDE6B1Dec 20, 2017
    PDE6C3Mar 6, 2020
    PHEX6Mar 6, 2020
    PHF34Mar 6, 2020
    PHKA21Dec 20, 2017
    PKD1109Dec 22, 2020
    PKD215Dec 22, 2020
    PKHD19Mar 13, 2019
    PLCE13Mar 13, 2019
    PLEC1Dec 22, 2020
    PMS21Mar 13, 2019
    PNLIP1Dec 20, 2017
    PNPO2Dec 20, 2017
    POC1B2Dec 22, 2020
    POC1B-GALNT41Dec 22, 2020
    POLR2F2Mar 13, 2019
    PRKAG21Dec 22, 2020
    PRKCSH2Dec 22, 2020
    PROC2Dec 20, 2017
    PRPF315Dec 22, 2020
    PRPH24Dec 22, 2020
    PTCHD1-AS1Mar 6, 2020
    PTPN112Dec 22, 2020
    RAX22Mar 13, 2019
    RB14Mar 13, 2019
    RDH121Mar 6, 2020
    REN1Apr 20, 2017
    RFT11Dec 20, 2017
    RHO1Mar 13, 2019
    RLBP11Mar 6, 2020
    RLIM1Mar 13, 2019
    RP12Mar 6, 2020
    RP1L11Oct 10, 2016
    RP21Mar 13, 2019
    RPE651Mar 6, 2020
    RPGR1Dec 20, 2017
    RPGRIP11Mar 6, 2020
    RPGRIP1L1Apr 20, 2017
    RPL36A-HNRNPH24Dec 22, 2020
    RSPO42Jan 24, 2017
    RUNX22Mar 6, 2020
    SALL14Mar 6, 2020
    SATB21Mar 6, 2020
    SCAPER2Mar 6, 2020
    SCN1A1Dec 22, 2020
    SCN5A2Mar 6, 2020
    SCNN1A1Dec 22, 2020
    SEC632Dec 22, 2020
    SERPINF11Apr 20, 2017
    SETD51Dec 22, 2020
    SGPL11Sep 19, 2018
    SHANK31Dec 20, 2017
    SHOX5Dec 22, 2020
    SHROOM42Dec 22, 2020
    SIX51Mar 6, 2020
    SLC12A12Oct 10, 2016
    SLC12A38Dec 22, 2020
    SLC22A51Dec 20, 2017
    SLC26A31Mar 13, 2019
    SLC2A21Dec 20, 2017
    SLC2A93Mar 6, 2020
    SLC2A9-AS11Mar 6, 2020
    SLC34A14Mar 13, 2019
    SLC34A310Mar 6, 2020
    SLC37A41Apr 20, 2017
    SLC38A81Dec 7, 2016
    SLC4A12Mar 6, 2020
    SLC5A212Dec 22, 2020
    SLC6A81Mar 13, 2019
    SLC7A92Dec 22, 2020
    SLCO2A14Mar 6, 2020
    SMARCAL16Dec 22, 2020
    SON1Dec 22, 2020
    SOS12Dec 22, 2020
    SOX102Mar 13, 2019
    SP71Mar 6, 2020
    SPATA52Mar 6, 2020
    TAF11Dec 22, 2020
    TBCEL-TECTA1Sep 19, 2018
    TBX62Dec 22, 2020
    TCOF11Dec 22, 2020
    TCTN11Mar 6, 2020
    TECTA1Sep 19, 2018
    TGFBR11Dec 22, 2020
    THBD1Apr 20, 2017
    THRB1Jan 24, 2017
    TLK21Dec 22, 2020
    TNNI31Dec 22, 2020
    TOPORS1Sep 19, 2018
    TP531Apr 20, 2017
    TP631Jan 24, 2017
    TRIO1Mar 13, 2019
    TRPC612Mar 6, 2020
    TRPM13Mar 6, 2020
    TRPV61Dec 22, 2020
    TRRAP1Dec 22, 2020
    TSC26Dec 22, 2020
    TTC21B2Mar 13, 2019
    TTC21B-AS11Mar 13, 2019
    TTLL52Dec 20, 2017
    TTN3Dec 22, 2020
    TTN-AS13Dec 22, 2020
    TUBB2A1Mar 13, 2019
    TULP11Mar 6, 2020
    UMOD2Dec 22, 2020
    USH1C2Sep 19, 2018
    USH2A12Mar 6, 2020
    USH2A-AS11Sep 19, 2018
    USH2A-AS21Oct 10, 2016
    VDR1Dec 22, 2020
    VIPAS392Dec 20, 2017
    VPS13C1Sep 19, 2018
    VPS33B1Dec 20, 2017
    VWF2Mar 6, 2020
    WAS1Mar 6, 2020
    WDR731Mar 6, 2020
    WHRN1Mar 6, 2020
    WNT10B1Dec 20, 2017
    WT18Mar 6, 2020
    WWOX1Dec 7, 2016
    XDH1Mar 13, 2019
    ZDHHC241Dec 20, 2017
    ZFP571Dec 20, 2017

    Condition

    NameSubmissionsLast Updated
    22q13.3 deletion syndrome1Dec 20, 2017
    3-methylcrotonyl CoA carboxylase 2 deficiency1Dec 20, 2017
    Achondrogenesis type II1Apr 20, 2017
    Achondroplasia1Sep 19, 2018
    Achromatopsia 22Mar 6, 2020
    Adult hypophosphatasia3Dec 22, 2020
    Alagille syndrome 12Dec 7, 2016
    Alagille syndrome 23Mar 6, 2020
    Alport syndrome 1, X-linked recessive84Dec 22, 2020
    Alport syndrome 3, autosomal dominant133Dec 22, 2020
    Alport syndrome, autosomal recessive14Dec 22, 2020
    Alstrom syndrome2Mar 6, 2020
    Aniridia 12Apr 20, 2017
    Anonychia2Jan 24, 2017
    Apparent mineralocorticoid excess1Apr 20, 2017
    Arginase deficiency1Dec 22, 2020
    Arrhythmogenic right ventricular dysplasia 81Sep 19, 2018
    Arthrogryposis, renal dysfunction, and cholestasis 11Dec 20, 2017
    Arthrogryposis, renal dysfunction, and cholestasis 22Dec 20, 2017
    Atypical hemolytic-uremic syndrome 114Mar 6, 2020
    Atypical hemolytic-uremic syndrome 28Mar 6, 2020
    Atypical hemolytic-uremic syndrome 310Mar 6, 2020
    Atypical hemolytic-uremic syndrome 46Mar 6, 2020
    Atypical hemolytic-uremic syndrome 55Dec 22, 2020
    Atypical hemolytic-uremic syndrome 61Apr 20, 2017
    Autism, susceptibility to, 181Mar 13, 2019
    Autism, susceptibility to, X-linked 21Mar 6, 2020
    Autosomal dominant distal renal tubular acidosis2Mar 6, 2020
    Autosomal dominant osteopetrosis 11Mar 13, 2019
    Autosomal dominant osteopetrosis 21Apr 20, 2017
    Autosomal dominant pseudohypoaldosteronism type 11Dec 20, 2017
    Autosomal recessive hypophosphatemic bone disease10Mar 6, 2020
    Autosomal recessive polycystic kidney disease9Mar 13, 2019
    Autosomal recessive pseudohypoaldosteronism type 11Dec 22, 2020
    Bardet-Biedl syndrome 11Dec 20, 2017
    Bardet-Biedl syndrome 191Dec 22, 2020
    Bardet-Biedl syndrome 41Jan 24, 2017
    Bardet-Biedl syndrome 62Dec 22, 2020
    Bardet-Biedl syndrome 91Oct 10, 2016
    Bartter disease type 4a1Dec 22, 2020
    Bartter syndrome type 32Dec 22, 2020
    Bartter syndrome, type 1, antenatal2Oct 10, 2016
    Beckwith-Wiedemann syndrome1Jan 24, 2017
    Benign familial hematuria1Dec 22, 2020
    Benign familial neonatal seizures 11Dec 22, 2020
    Bestrophinopathy, autosomal recessive7Mar 6, 2020
    Blepharophimosis, ptosis, and epicanthus inversus2Mar 6, 2020
    Brachydactyly type C1Oct 10, 2016
    Branchiootorenal Syndrome 13Mar 6, 2020
    Branchiootorenal syndrome 21Mar 6, 2020
    Brugada syndrome 11Apr 20, 2017
    Brugada syndrome 41Mar 6, 2020
    Brugada syndrome 91Apr 20, 2017
    Bullous ichthyosiform erythroderma1Apr 20, 2017
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 12Dec 20, 2017
    Charcot-Marie-Tooth disease, axonal, type 2u1Mar 13, 2019
    Choroideremia3Mar 13, 2019
    Chromosome 2q32-q33 deletion syndrome1Mar 6, 2020
    Ciliary dyskinesia, primary, 31Dec 20, 2017
    Citrullinemia type I1Sep 19, 2018
    Classic homocystinuria1Dec 20, 2017
    Cleft palate, psychomotor retardation, and distinctive facial features1Dec 22, 2020
    Cleidocranial dysostosis2Mar 6, 2020
    Cobalamin C disease1Apr 20, 2017
    Coenzyme Q10 deficiency, primary 12Mar 6, 2020
    Coenzyme Q10 deficiency, primary, 61Mar 6, 2020
    Common variable immunodeficiency 72Mar 6, 2020
    Complement component 2 deficiency1Mar 6, 2020
    Complement component 3 deficiency, autosomal recessive3Mar 6, 2020
    Complement component 7 deficiency2Mar 13, 2019
    Complement component 9 deficiency1Mar 6, 2020
    Complement component c1s deficiency1Mar 6, 2020
    Cone dystrophy 31Mar 6, 2020
    Cone dystrophy 43Mar 6, 2020
    Cone-rod dystrophy 112Mar 13, 2019
    Cone-rod dystrophy 192Dec 20, 2017
    Cone-rod dystrophy 21Mar 6, 2020
    Cone-rod dystrophy 202Dec 22, 2020
    Cone-rod dystrophy 211Dec 7, 2016
    Cone-rod dystrophy 312Mar 6, 2020
    Cone-rod dystrophy 61Mar 13, 2019
    Congenital anomalies of kidney and urinary tract 1, susceptibility to1Mar 6, 2020
    Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3Dec 22, 2020
    Congenital contractural arachnodactyly2Mar 6, 2020
    Congenital disorder of glycosylation type 1N1Dec 20, 2017
    Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Mar 13, 2019
    Congenital secretory diarrhea, chloride type1Mar 13, 2019
    Congenital stationary night blindness, type 1C3Mar 6, 2020
    Congenital stationary night blindness, type 1E1Sep 19, 2018
    Congenital stationary night blindness, type 2B1Mar 13, 2019
    Cornelia de Lange syndrome 11Mar 6, 2020
    Cortical dysplasia, complex, with other brain malformations 51Mar 13, 2019
    Craniosynostosis 41Mar 13, 2019
    Creatine transporter deficiency1Mar 13, 2019
    Crouzon syndrome1Dec 7, 2016
    Culler-Jones syndrome1Dec 20, 2017
    Cystinuria2Dec 22, 2020
    Deafness, autosomal dominant 11Sep 19, 2018
    Deafness, autosomal dominant 121Sep 19, 2018
    Deafness, autosomal recessive 182Sep 19, 2018
    Deafness, autosomal recessive 251Dec 20, 2017
    Deafness, autosomal recessive 291Sep 19, 2018
    Deafness, autosomal recessive 33Sep 19, 2018
    Deafness, autosomal recessive 84b1Mar 13, 2019
    Deficiency of steroid 11-beta-monooxygenase2Dec 20, 2017
    Dent disease type 13Dec 22, 2020
    Developmental and epileptic encephalopathy, 661Mar 13, 2019
    Developmental delay with or without dysmorphic facies and autism1Dec 22, 2020
    Dilated cardiomyopathy 1A1Mar 6, 2020
    Dilated cardiomyopathy 1AA1Mar 6, 2020
    Dilated cardiomyopathy 1CC1Sep 19, 2018
    Dyggve-Melchior-Clausen syndrome1Dec 22, 2020
    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31Jan 24, 2017
    Ehlers-Danlos syndrome, classic type1Apr 20, 2017
    Ellis-van Creveld syndrome2Dec 20, 2017
    Epidermolysis bullosa simplex, Koebner type1Apr 20, 2017
    Epilepsy, hearing loss, and mental retardation syndrome2Mar 6, 2020
    Epileptic encephalopathy, childhood-onset1Mar 6, 2020
    Epileptic encephalopathy, early infantile, 281Dec 7, 2016
    Episodic ataxia type 21Mar 6, 2020
    Fabry disease4Dec 22, 2020
    Familial X-linked hypophosphatemic vitamin D refractory rickets6Mar 6, 2020
    Familial adenomatous polyposis 12Mar 13, 2019
    Familial cancer of breast13Mar 13, 2019
    Familial hypercholesterolemia 12Apr 20, 2017
    Familial hypertrophic cardiomyopathy 11Mar 13, 2019
    Familial hypertrophic cardiomyopathy 121Mar 6, 2020
    Familial hypertrophic cardiomyopathy 171Mar 6, 2020
    Familial hypertrophic cardiomyopathy 44Dec 22, 2020
    Familial hypertrophic cardiomyopathy 61Dec 22, 2020
    Familial hypertrophic cardiomyopathy 71Dec 22, 2020
    Familial hypertrophic cardiomyopathy 93Dec 22, 2020
    Familial hypokalemia-hypomagnesemia8Dec 22, 2020
    Familial juvenile gout2Dec 22, 2020
    Familial partial lipodystrophy 31Dec 7, 2016
    Familial renal glucosuria12Dec 22, 2020
    Fanconi anemia, complementation group A1Mar 13, 2019
    Fanconi-Bickel syndrome1Dec 20, 2017
    Feingold syndrome 11Mar 6, 2020
    Finnish congenital nephrotic syndrome8Dec 22, 2020
    Focal segmental glomerulosclerosis 17Mar 6, 2020
    Focal segmental glomerulosclerosis 212Mar 6, 2020
    Focal segmental glomerulosclerosis 3, susceptibility to5Mar 6, 2020
    Focal segmental glomerulosclerosis 516Dec 22, 2020
    Focal segmental glomerulosclerosis 74Mar 6, 2020
    Focal segmental glomerulosclerosis 84Mar 6, 2020
    Focal segmental glomerulosclerosis 96Mar 6, 2020
    Foveal hypoplasia 21Dec 7, 2016
    Fraser syndrome 22Dec 20, 2017
    Galloway-Mowat syndrome 11Mar 6, 2020
    Galloway-Mowat syndrome 31Sep 19, 2018
    Generalized dominant dystrophic epidermolysis bullosa1Dec 7, 2016
    Glomerulopathy with fibronectin deposits 21Mar 6, 2020
    Glucose-6-phosphate transport defect1Apr 20, 2017
    Glutaric aciduria, type 12Dec 22, 2020
    Glycogen storage disease type III3Dec 20, 2017
    Glycogen storage disease type IXa11Dec 20, 2017
    Glycogen storage disease, type II3Dec 20, 2017
    Growth delay due to insulin-like growth factor type 1 deficiency1Mar 6, 2020
    Hereditary fructosuria2Apr 20, 2017
    Hereditary nonpolyposis colorectal cancer type 43Mar 13, 2019
    Hereditary xanthinuria type 11Mar 13, 2019
    Hydrocephalus, congenital, 2, with or without brain or eye anomalies2Mar 6, 2020
    Hypercalcemia, infantile, 11Dec 22, 2020
    Hypercalcemia, infantile, 24Mar 13, 2019
    Hyperinsulinemic hypoglycemia, familial, 11Oct 10, 2016
    Hyperparathyroidism, transient neonatal1Dec 22, 2020
    Hypertrophic osteoarthropathy, primary, autosomal recessive, 12Sep 19, 2018
    Hyperuricemic nephropathy, familial juvenile, 21Apr 20, 2017
    Hypocalcemia, autosomal dominant 12Dec 22, 2020
    Hypocalciuric hypercalcemia, familial, type 14Dec 22, 2020
    Hypochondroplasia2Sep 19, 2018
    Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Apr 20, 2017
    Hypogonadotropic hypogonadism 5 with or without anosmia2Dec 20, 2017
    Hypohidrotic X-linked ectodermal dysplasia1Dec 20, 2017
    Hypomagnesemia, seizures, and mental retardation 21Dec 22, 2020
    Idiopathic nephrotic syndrome10Mar 6, 2020
    Imerslund-Gräsbeck syndrome23Mar 6, 2020
    Imerslund-Gräsbeck syndrome 12Dec 22, 2020
    Infantile hypophosphatasia2Mar 13, 2019
    Intellectual developmental disorder and retinitis pigmentosa; IDDRP2Mar 6, 2020
    Intellectual disability, autosomal dominant 91Mar 6, 2020
    Intrinsic factor deficiency1Mar 6, 2020
    Jalili syndrome2Mar 6, 2020
    Joubert syndrome 131Mar 6, 2020
    Joubert syndrome 51Apr 20, 2017
    Joubert syndrome 72Mar 6, 2020
    Junctional epidermolysis bullosa, non-Herlitz type1Dec 20, 2017
    Kabuki syndrome 13Mar 13, 2019
    Kleefstra syndrome 12Dec 22, 2020
    Kleefstra syndrome 21Mar 13, 2019
    Kniest dysplasia1Sep 19, 2018
    Laron-type isolated somatotropin defect1Dec 22, 2020
    Leber congenital amaurosis 11Apr 20, 2017
    Leber congenital amaurosis 101Mar 6, 2020
    Leber congenital amaurosis 131Mar 6, 2020
    Leber congenital amaurosis 151Mar 6, 2020
    Leber congenital amaurosis 71Sep 19, 2018
    Leber congenital amaurosis 81Oct 10, 2016
    Leber congenital amaurosis 91Mar 13, 2019
    Lethal congenital contracture syndrome 101Mar 6, 2020
    Li-Fraumeni syndrome 11Apr 20, 2017
    Limb-girdle muscular dystrophy, type 2A2Dec 22, 2020
    Limb-girdle muscular dystrophy, type 2Q1Dec 22, 2020
    Loeys-Dietz syndrome 11Dec 22, 2020
    Long QT syndrome 15Dec 22, 2020
    Long QT syndrome 31Mar 6, 2020
    Long QT syndrome 61Mar 6, 2020
    Lowe syndrome1Mar 6, 2020
    Lynch syndrome II1Dec 7, 2016
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss10Mar 6, 2020
    Macular dystrophy, vitelliform, 51Sep 19, 2018
    Macular dystrophy, vitelliform, adult-onset4Dec 22, 2020
    Maple syrup urine disease3Jan 24, 2017
    Maturity-onset diabetes of the young type 61Mar 13, 2019
    Maturity-onset diabetes of the young type 91Apr 20, 2017
    Maturity-onset diabetes of the young, type 11Jan 24, 2017
    Maturity-onset diabetes of the young, type 23Dec 20, 2017
    Maturity-onset diabetes of the young, type 32Dec 20, 2017
    Mental retardation, X-linked 611Mar 13, 2019
    Mental retardation, X-linked, syndromic 331Dec 22, 2020
    Mental retardation, autosomal dominant 191Mar 13, 2019
    Mental retardation, autosomal dominant 231Dec 22, 2020
    Mental retardation, autosomal dominant 441Mar 13, 2019
    Mental retardation, autosomal dominant 571Dec 22, 2020
    Metachondromatosis1Mar 6, 2020
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Dec 22, 2020
    Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2Mar 6, 2020
    Mitochondrial trifunctional protein deficiency1Sep 19, 2018
    Mucolipidosis type II1Dec 22, 2020
    Multiple acyl-CoA dehydrogenase deficiency1Dec 20, 2017
    Multiple epiphyseal dysplasia 12Dec 22, 2020
    Multiple fibrofolliculomas1Mar 6, 2020
    Muscular dystrophy, limb-girdle, type 2X1Mar 13, 2019
    Myopia, high, with cataract and vitreoretinal degeneration1Mar 13, 2019
    Nail-patella syndrome6Mar 6, 2020
    Nephrogenic diabetes insipidus, X-linked1Apr 20, 2017
    Nephronophthisis 152Dec 22, 2020
    Nephronophthisis 44Mar 6, 2020
    Nephrotic syndrome type 141Sep 19, 2018
    Nephrotic syndrome, type 125Mar 6, 2020
    Nephrotic syndrome, type 33Mar 13, 2019
    Nephrotic syndrome, type 48Mar 6, 2020
    Nephrotic syndrome, type 5, with or without ocular abnormalities6Mar 6, 2020
    Nephrotic syndrome, type 77Mar 6, 2020
    Nephrotic syndrome, type 91Sep 19, 2018
    Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 13, 2019
    Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Dec 22, 2020
    Neurofibromatosis, type 111Dec 22, 2020
    Neurofibromatosis, type 21Dec 22, 2020
    Neurohypophyseal diabetes insipidus1Dec 7, 2016
    Noonan syndrome 11Dec 22, 2020
    Noonan syndrome 42Dec 22, 2020
    Ornithine aminotransferase deficiency2Mar 6, 2020
    Orofaciodigital syndrome I1Mar 6, 2020
    Osteochondritis dissecans1Mar 13, 2019
    Osteogenesis imperfecta type 121Mar 6, 2020
    Osteogenesis imperfecta type 51Sep 19, 2018
    Osteogenesis imperfecta type 81Dec 20, 2017
    Osteogenesis imperfecta type I7Mar 13, 2019
    Osteogenesis imperfecta, recessive perinatal lethal2Dec 22, 2020
    Osteogenesis imperfecta, type 191Dec 22, 2020
    Osteogenesis imperfecta, type VI1Apr 20, 2017
    Osteogenesis imperfecta, type XI1Apr 20, 2017
    Osteopetrosis with renal tubular acidosis1Dec 20, 2017
    Pancreatic lipase deficiency1Dec 20, 2017
    Parkinson disease 23, autosomal recessive early-onset1Sep 19, 2018
    Parkinson disease 8, autosomal dominant1Apr 20, 2017
    Periventricular nodular heterotopia 11Dec 7, 2016
    Pfeiffer syndrome1Dec 22, 2020
    Pigmentary retinal dystrophy1Mar 6, 2020
    Pilarowski-Bjornsson syndrome2Mar 13, 2019
    Polyarteritis nodosa, childhoood-onset1Dec 20, 2017
    Polycystic kidney disease 215Dec 22, 2020
    Polycystic kidney disease 6 with or without polycystic liver disease1Dec 22, 2020
    Polycystic kidney disease, adult type109Dec 22, 2020
    Polycystic liver disease 12Dec 22, 2020
    Polycystic liver disease 22Dec 22, 2020
    Polycystic liver disease 4 with or without kidney cysts1Dec 22, 2020
    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Oct 10, 2016
    Porphobilinogen synthase deficiency1Dec 20, 2017
    Primary hyperoxaluria, type II1Mar 6, 2020
    Primary hyperoxaluria, type III3Dec 20, 2017
    Primary hypertrophic osteoarthropathy, autosomal recessive 24Mar 6, 2020
    Primary hypomagnesemia1Apr 20, 2017
    Protoporphyria, erythropoietic, 11Dec 22, 2020
    Pyridoxal phosphate-responsive seizures2Dec 20, 2017
    Renal carnitine transport defect1Dec 20, 2017
    Renal coloboma syndrome1Mar 13, 2019
    Renal cysts and diabetes syndrome2Dec 22, 2020
    Renal dysplasia, cystic, susceptibility to2Dec 22, 2020
    Renal hypouricemia 23Mar 6, 2020
    Renal tubular acidosis with progressive nerve deafness1Mar 13, 2019
    Renal tubular acidosis, distal, autosomal recessive1Mar 13, 2019
    Retinitis pigmentosa 12Mar 6, 2020
    Retinitis pigmentosa 101Mar 6, 2020
    Retinitis pigmentosa 115Dec 22, 2020
    Retinitis pigmentosa 151Dec 20, 2017
    Retinitis pigmentosa 21Mar 13, 2019
    Retinitis pigmentosa 201Mar 6, 2020
    Retinitis pigmentosa 258Dec 22, 2020
    Retinitis pigmentosa 263Mar 6, 2020
    Retinitis pigmentosa 311Sep 19, 2018
    Retinitis pigmentosa 371Mar 6, 2020
    Retinitis pigmentosa 382Mar 13, 2019
    Retinitis pigmentosa 396Mar 6, 2020
    Retinitis pigmentosa 41Mar 13, 2019
    Retinitis pigmentosa 401Dec 20, 2017
    Retinitis pigmentosa 451Dec 7, 2016
    Retinitis pigmentosa 541Mar 6, 2020
    Retinitis pigmentosa 562Dec 20, 2017
    Retinitis pigmentosa 802Mar 13, 2019
    Retinoblastoma2Mar 13, 2019
    Rett syndrome1Jan 24, 2017
    Rubinstein-Taybi syndrome 12Dec 20, 2017
    Sandhoff disease1Jan 24, 2017
    Schimke immuno-osseous dysplasia6Dec 22, 2020
    Severe myoclonic epilepsy in infancy1Dec 22, 2020
    Short QT syndrome 11Mar 6, 2020
    Short stature, idiopathic, X-linked5Dec 22, 2020
    Short-rib thoracic dysplasia 14 with polydactyly1Mar 6, 2020
    Sotos syndrome 12Dec 22, 2020
    Spherocytosis type 11Mar 6, 2020
    Split-hand/foot malformation 61Dec 20, 2017
    Spondylocostal dysostosis 52Dec 22, 2020
    Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1Dec 20, 2017
    Spondyloepimetaphyseal dysplasia with joint laxity, type 21Dec 22, 2020
    Spondyloperipheral dysplasia-short ulna syndrome1Mar 6, 2020
    Stargardt disease 13Mar 6, 2020
    Stickler syndrome type 11Mar 13, 2019
    Symphalangism, proximal, 1A1Sep 19, 2018
    Syndactyly, type V1Mar 6, 2020
    Syndromic X-linked intellectual disability Turner type1Sep 19, 2018
    Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2Dec 20, 2017
    Thyroid hormone resistance, generalized, autosomal dominant1Jan 24, 2017
    Townes-Brocks syndrome 14Mar 6, 2020
    Transient neonatal diabetes mellitus 11Dec 20, 2017
    Treacher Collins syndrome 11Dec 22, 2020
    Tuberous sclerosis 26Dec 22, 2020
    Type 2 diabetes mellitus2Mar 6, 2020
    Type II complement component 8 deficiency1Mar 6, 2020
    Tyrosinemia type I1Mar 13, 2019
    Ulnar/fibular ray defect and brachydactyly1Oct 10, 2016
    Upshaw-Schulman syndrome2Apr 20, 2017
    Usher Syndrome, Type III1Sep 19, 2018
    Usher syndrome type 14Mar 6, 2020
    Usher syndrome type 1D2Sep 19, 2018
    Usher syndrome, type 2A6Mar 13, 2019
    Usher syndrome, type 2C6Mar 6, 2020
    Usher syndrome, type 2D1Mar 6, 2020
    Usher syndrome, type 3A1Dec 22, 2020
    Very long chain acyl-CoA dehydrogenase deficiency1Dec 20, 2017
    Vici syndrome1Dec 7, 2016
    Vitamin B12-responsive methylmalonic acidemia type cblB1Dec 20, 2017
    Vitamin D-dependent rickets, type 21Dec 22, 2020
    Vitamin K-dependent clotting factors, combined deficiency of, 12Dec 22, 2020
    Waardenburg syndrome type 2A1Mar 6, 2020
    Waardenburg syndrome type 2E2Mar 13, 2019
    Warsaw breakage syndrome2Dec 22, 2020
    Wiedemann-Steiner syndrome1Mar 6, 2020
    Wolcott-Rallison dysplasia1Dec 20, 2017
    X-linked cone-rod dystrophy 31Dec 7, 2016
    X-linked intellectual disability, Stocco dos Santos type2Dec 22, 2020
    X-linked thrombocytopenia with normal platelets1Mar 6, 2020
    ZTTK syndrome1Dec 22, 2020
    alpha Thalassemia1Mar 13, 2019
    beta Thalassemia2Mar 6, 2020
    von Willebrand disease type 12Mar 6, 2020
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