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Bioscientia Institut fuer Medizinische Diagnostik GmbH (Sonic Healthcare), Bioscientia

General information

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

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1200

Gene

GeneSubmissionsLast Updated
ABCA415Oct 15, 2025
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
AFG2A2Mar 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
BAG31Jan 31, 2025
BBS11Dec 20, 2017
BBS101Oct 15, 2025
BBS41Jan 24, 2017
BBS91Oct 10, 2016
BCKDHA1Dec 7, 2016
BCKDHB2Jan 24, 2017
BEST18Oct 15, 2025
BICC12Dec 22, 2020
BRCA112Oct 15, 2025
BRCA25Oct 15, 2025
BSCL21Dec 7, 2016
BSND1Dec 22, 2020
BTD1Oct 15, 2025
C12orf432Dec 20, 2017
C17orf1071Oct 15, 2025
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
CDC42BPB1Dec 22, 2020
CDH232Sep 19, 2018
CDK131Mar 13, 2019
CDKN1C1Jan 24, 2017
CEP1642Dec 22, 2020
CEP2903Mar 26, 2025
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
CHRNE1Oct 15, 2025
CLCN53Dec 22, 2020
CLCN71Apr 20, 2017
CLCNKB2Dec 22, 2020
CLDN141Sep 19, 2018
CLDN14-AS11Sep 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
COL4A585Oct 15, 2025
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
CTXN2-AS11Oct 10, 2016
CUBN23Apr 10, 2024
CYP11B12Dec 20, 2017
CYP21A21Oct 15, 2025
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
DUOX21Oct 15, 2025
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
FAM161A1Oct 15, 2025
FANCA1Mar 13, 2019
FBN23Oct 15, 2025
FECH2Oct 15, 2025
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
GPHN1Mar 6, 2020
GPR1791Sep 19, 2018
GRHPR1Mar 6, 2020
GRIN11Dec 22, 2020
GRXCR11Dec 20, 2017
GUCA1A1Mar 6, 2020
GUCA1ANB-GUCA1A1Mar 6, 2020
GUCY2D2Mar 13, 2019
HADHB1Sep 19, 2018
HBA21Mar 13, 2019
HBB2Mar 6, 2020
HECW21Mar 13, 2019
HEXB2Feb 18, 2026
HNF1A2Dec 20, 2017
HNF1B5Oct 15, 2025
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
KCNQ16Jan 10, 2025
KCNQ21Dec 22, 2020
KDM1A1Dec 22, 2020
KIAA05861Mar 6, 2020
KIF112Mar 6, 2020
KIF1A1Mar 6, 2020
KIF221Dec 22, 2020
KIRREL22Dec 22, 2020
KMT2A1Mar 6, 2020
KMT2C1Mar 13, 2019
KMT2D3Mar 13, 2019
KRT11Apr 20, 2017
KRT51Apr 20, 2017
LAMB26Mar 6, 2020
LDLR5Oct 15, 2025
LINC024561Mar 6, 2020
LMNA1Mar 6, 2020
LMX1B6Mar 6, 2020
LOC1027240581Dec 22, 2020
LOC1053698891Dec 22, 2020
LOC1053715662Sep 19, 2018
LOC1053727911Mar 6, 2020
LOC1060990621Oct 10, 2016
LOC1065017132Dec 22, 2020
LOC1067808001Oct 15, 2025
LOC1067998332Dec 20, 2017
LOC1068046121Mar 13, 2019
LOC1071335102Mar 6, 2020
LOC1075481121Apr 20, 2017
LOC1076524452Oct 15, 2025
LOC1079822342Dec 20, 2017
LOC1100063191Mar 6, 2020
LOC1118119651Dec 7, 2016
LOC1125336721Oct 15, 2025
LOC1230381851Mar 6, 2020
LOC1268057931Mar 13, 2019
LOC1268066581Mar 13, 2019
LOC1268603921Dec 20, 2017
LOC1268604031Dec 20, 2017
LOC1268615251Apr 20, 2017
LOC1268620881Apr 20, 2017
LOC1268622601Mar 13, 2019
LOC1268622641Oct 15, 2025
LOC1268625712Dec 7, 2016
LOC1268625861Dec 20, 2017
LOC1299982921Mar 13, 2019
LOC1300031481Dec 22, 2020
LOC1300083561Dec 22, 2020
LOC1300565531Dec 22, 2020
LOC1300589071Dec 22, 2020
LRP52Dec 22, 2020
LRRK21Apr 20, 2017
MARS11Mar 13, 2019
MBTPS22Oct 15, 2025
MCCC21Dec 20, 2017
MECP21Jan 24, 2017
MEFV2Oct 15, 2025
MEN11Oct 15, 2025
MERTK2Mar 13, 2019
MFF-DT66Dec 22, 2020
MINK11Oct 15, 2025
MIR4733HG1Dec 7, 2016
MITF1Mar 6, 2020
MKKS2Dec 22, 2020
MLH11Dec 7, 2016
MMAB1Dec 20, 2017
MMACHC1Apr 20, 2017
MMUT2Dec 22, 2020
MPDZ2Mar 6, 2020
MSH21Oct 15, 2025
MTO11Oct 15, 2025
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
PGGHG1Sep 19, 2018
PHEX6Mar 6, 2020
PHF34Mar 6, 2020
PHKA21Dec 20, 2017
PKD1110Oct 15, 2025
PKD1-AS121Oct 15, 2025
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-DUSP62Dec 22, 2020
POC1B-GALNT41Dec 22, 2020
POLR2F2Mar 13, 2019
POPDC11Mar 13, 2019
PRKAG21Dec 22, 2020
PRKCSH2Dec 22, 2020
PROC2Dec 20, 2017
PRPF315Dec 22, 2020
PRPF31-AS12Dec 22, 2020
PRPH25Oct 15, 2025
PTCHD1-AS1Mar 6, 2020
PTPN112Dec 22, 2020
PUF601Oct 15, 2025
RAX22Mar 13, 2019
RB14Mar 13, 2019
RD32Jul 23, 2025
RDH121Mar 6, 2020
REN1Apr 20, 2017
RFT11Dec 20, 2017
RHO1Mar 13, 2019
RLBP11Mar 6, 2020
RLIM1Mar 13, 2019
ROM11Apr 20, 2026
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
SHOX6Oct 15, 2025
SHQ11Oct 15, 2025
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
STK111Jan 31, 2025
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
TLK22Oct 15, 2025
TNNI31Dec 22, 2020
TOPORS1Sep 19, 2018
TP531Apr 20, 2017
TP632Oct 15, 2025
TRIO1Mar 13, 2019
TRPC612May 9, 2023
TRPM13Mar 6, 2020
TRPM1-AS11Apr 20, 2017
TRPV61Dec 22, 2020
TRRAP1Dec 22, 2020
TSC27Dec 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
UNC13D1Oct 15, 2025
USH1C2Sep 19, 2018
USH2A14Oct 15, 2025
USH2A-AS11Sep 19, 2018
USH2A-AS21Oct 10, 2016
VAMP21Oct 15, 2025
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
WWOX3Oct 15, 2025
XDH1Mar 13, 2019
ZDHHC241Dec 20, 2017
ZFP571Dec 20, 2017
ZMYND111Oct 15, 2025

Condition

NameSubmissionsLast Updated
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia1Oct 15, 2025
3-methylcrotonyl-CoA carboxylase 2 deficiency1Dec 20, 2017
8q24.3 microdeletion syndrome1Oct 15, 2025
Achondrogenesis type II1Apr 20, 2017
Achondroplasia1Sep 19, 2018
Achromatopsia 22Mar 6, 2020
Adult hypophosphatasia3Dec 22, 2020
Adult-onset foveomacular vitelliform dystrophy4Dec 22, 2020
Alagille syndrome due to a JAG1 point mutation2Dec 7, 2016
Alagille syndrome due to a NOTCH2 point mutation3Mar 6, 2020
Alstrom syndrome2Mar 6, 2020
Aniridia 12Apr 20, 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 with B factor anomaly6Mar 6, 2020
Atypical hemolytic-uremic syndrome with C3 anomaly5Dec 22, 2020
Atypical hemolytic-uremic syndrome with I factor anomaly10Mar 6, 2020
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly8Mar 6, 2020
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1Apr 20, 2017
Autism, susceptibility to, X-linked 21Mar 6, 2020
Autosomal dominant Alport syndrome133Dec 22, 2020
Autosomal dominant Parkinson disease 81Apr 20, 2017
Autosomal dominant distal renal tubular acidosis2Mar 6, 2020
Autosomal dominant hypocalcemia 12Dec 22, 2020
Autosomal dominant nonsyndromic hearing loss 11Sep 19, 2018
Autosomal dominant nonsyndromic hearing loss 121Sep 19, 2018
Autosomal dominant osteopetrosis 11Mar 13, 2019
Autosomal dominant osteopetrosis 21Apr 20, 2017
Autosomal dominant pseudohypoaldosteronism type 11Dec 20, 2017
Autosomal recessive Alport syndrome14Dec 22, 2020
Autosomal recessive bestrophinopathy7Mar 6, 2020
Autosomal recessive distal renal tubular acidosis1Mar 13, 2019
Autosomal recessive early-onset Parkinson disease 231Sep 19, 2018
Autosomal recessive hypophosphatemic bone disease10Mar 6, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A2Dec 22, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2Q1Dec 22, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2X1Mar 13, 2019
Autosomal recessive nonsyndromic hearing loss 18A2Sep 19, 2018
Autosomal recessive nonsyndromic hearing loss 251Dec 20, 2017
Autosomal recessive nonsyndromic hearing loss 291Sep 19, 2018
Autosomal recessive nonsyndromic hearing loss 33Sep 19, 2018
Autosomal recessive nonsyndromic hearing loss 84B1Mar 13, 2019
Autosomal recessive polycystic kidney disease9Mar 13, 2019
Bardet-Biedl syndrome 11Dec 20, 2017
Bardet-Biedl syndrome 101Oct 15, 2025
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 12Oct 10, 2016
Bartter disease type 32Dec 22, 2020
Bartter disease type 4A1Dec 22, 2020
Beckwith-Wiedemann syndrome1Jan 24, 2017
Benign familial hematuria1Dec 22, 2020
Biotinidase deficiency1Oct 15, 2025
Birt-Hogg-Dube syndrome1Mar 6, 2020
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Mar 6, 2020
Brachydactyly type C1Oct 10, 2016
Branchiootorenal syndrome 13Mar 6, 2020
Branchiootorenal syndrome 21Mar 6, 2020
Breast-ovarian cancer, familial, susceptibility to, 13Oct 15, 2025
Breast-ovarian cancer, familial, susceptibility to, 22Oct 15, 2025
Brugada syndrome 11Apr 20, 2017
Brugada syndrome 41Mar 6, 2020
Brugada syndrome 91Apr 20, 2017
Cerebral arteriopathy, autosomal dominant, 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
Citrullinemia type I1Sep 19, 2018
Classic homocystinuria1Dec 20, 2017
Cleidocranial dysostosis2Mar 6, 2020
Cobalamin C disease1Apr 20, 2017
Coenzyme Q10 deficiency, primary, 12Mar 6, 2020
Colorectal cancer, hereditary nonpolyposis, type 21Dec 7, 2016
Complement component 2 deficiency1Mar 6, 2020
Complement component 3 deficiency3Mar 6, 2020
Complement component 7 deficiency2Mar 13, 2019
Complement component 9 deficiency1Mar 6, 2020
Complement component C1s deficiency1Mar 6, 2020
Complex cortical dysplasia with other brain malformations 51Mar 13, 2019
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
Cone-rod synaptic disorder, congenital nonprogressive1Mar 13, 2019
Congenital anomalies of kidney and urinary tract 11Mar 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 heart defects, dysmorphic facial features, and intellectual developmental disorder1Mar 13, 2019
Congenital myasthenic syndrome 4C1Oct 15, 2025
Congenital secretory diarrhea, chloride type1Mar 13, 2019
Congenital stationary night blindness 1C3Mar 6, 2020
Congenital stationary night blindness 1E1Sep 19, 2018
Cornelia de Lange syndrome 11Mar 6, 2020
Creatine transporter deficiency1Mar 13, 2019
Crouzon syndrome1Dec 7, 2016
Cystinuria2Dec 22, 2020
Deficiency of adenosine deaminase 21Dec 20, 2017
Deficiency of steroid 11-beta-monooxygenase2Dec 20, 2017
Dent disease type 13Dec 22, 2020
Developmental and epileptic encephalopathy 941Mar 6, 2020
Developmental and epileptic encephalopathy, 283Oct 15, 2025
Developmental and epileptic encephalopathy, 661Mar 13, 2019
Developmental delay with or without dysmorphic facies and autism1Dec 22, 2020
Diabetes insipidus, nephrogenic, X-linked1Apr 20, 2017
Diabetes mellitus, transient neonatal, 11Dec 20, 2017
Dilated cardiomyopathy 1A1Mar 6, 2020
Dilated cardiomyopathy 1AA1Mar 6, 2020
Dilated cardiomyopathy 1CC1Sep 19, 2018
Dilated cardiomyopathy 1HH1Jan 31, 2025
Dyggve-Melchior-Clausen syndrome1Dec 22, 2020
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32Oct 15, 2025
Ehlers-Danlos syndrome, classic type1Apr 20, 2017
Ellis-van Creveld syndrome2Dec 20, 2017
Epidermolysis bullosa simplex, Koebner type1Apr 20, 2017
Epidermolytic ichthyosis1Apr 20, 2017
Episodic ataxia type 21Mar 6, 2020
Fabry disease4Dec 22, 2020
Familial Mediterranean fever2Oct 15, 2025
Familial X-linked hypophosphatemic vitamin D refractory rickets6Mar 6, 2020
Familial adenomatous polyposis 12Mar 13, 2019
Familial cancer of breast13Mar 13, 2019
Familial hemophagocytic lymphohistiocytosis 31Oct 15, 2025
Familial hypocalciuric hypercalcemia 14Dec 22, 2020
Familial hypokalemia-hypomagnesemia8Dec 22, 2020
Familial juvenile hyperuricemic nephropathy type 12Dec 22, 2020
Familial juvenile hyperuricemic nephropathy type 21Apr 20, 2017
Familial renal glucosuria12Dec 22, 2020
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1Mar 6, 2020
Fanconi anemia complementation group A1Mar 13, 2019
Fanconi-Bickel syndrome1Dec 20, 2017
Feingold syndrome type 11Mar 6, 2020
Finnish congenital nephrotic syndrome8Dec 22, 2020
Focal segmental glomerulosclerosis 17Mar 6, 2020
Focal segmental glomerulosclerosis 212May 9, 2023
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 - optic nerve decussation defect - anterior segment dysgenesis syndrome1Dec 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 IXa11Dec 20, 2017
Glycogen storage disease type III3Dec 20, 2017
Glycogen storage disease, type II3Dec 20, 2017
Growth delay due to insulin-like growth factor type 1 deficiency1Mar 6, 2020
Hemolytic uremic syndrome, atypical, susceptibility to, 114Mar 6, 2020
Hereditary fructosuria2Apr 20, 2017
Hereditary intrinsic factor deficiency1Mar 6, 2020
Hereditary spherocytosis type 11Mar 6, 2020
Hereditary xanthinuria type 11Mar 13, 2019
Heterotopia, periventricular, X-linked dominant1Dec 7, 2016
Hydrocephalus, nonsyndromic, autosomal recessive 22Mar 6, 2020
Hypercalcemia, infantile, 11Dec 22, 2020
Hypercalcemia, infantile, 24Mar 13, 2019
Hypercholesterolemia, familial, 15Oct 15, 2025
Hyperinsulinemic hypoglycemia, familial, 11Oct 10, 2016
Hyperparathyroidism, transient neonatal1Dec 22, 2020
Hypertrophic cardiomyopathy 11Mar 13, 2019
Hypertrophic cardiomyopathy 121Mar 6, 2020
Hypertrophic cardiomyopathy 171Mar 6, 2020
Hypertrophic cardiomyopathy 44Dec 22, 2020
Hypertrophic cardiomyopathy 61Dec 22, 2020
Hypertrophic cardiomyopathy 71Dec 22, 2020
Hypertrophic cardiomyopathy 93Dec 22, 2020
Hypertrophic osteoarthropathy, primary, autosomal recessive, 12Sep 19, 2018
Hypertrophic osteoarthropathy, primary, autosomal recessive, 24Mar 6, 2020
Hypochondroplasia2Sep 19, 2018
Hypogonadotropic hypogonadism 1 with or without anosmia1Apr 20, 2017
Hypogonadotropic hypogonadism 5 with or without anosmia2Dec 20, 2017
Hypohidrotic X-linked ectodermal dysplasia1Dec 20, 2017
Hypomagnesemia, seizures, and intellectual disability 21Dec 22, 2020
Hypouricemia, renal, 23Mar 6, 2020
IFAP syndrome 1, with or without BRESHECK syndrome1Oct 15, 2025
Imerslund-Grasbeck syndrome22Mar 6, 2020
Imerslund-Grasbeck syndrome type 13Apr 10, 2024
Immunodeficiency, common variable, 72Mar 6, 2020
Immunoglobulin-mediated membranoproliferative glomerulonephritis7Mar 6, 2020
Infantile hypophosphatasia2Mar 13, 2019
Intellectual developmental disorder and retinitis pigmentosa; IDDRP2Mar 6, 2020
Intellectual developmental disorder with autism and macrocephaly1Mar 13, 2019
Intellectual disability, X-linked 611Mar 13, 2019
Intellectual disability, X-linked syndromic, Turner type1Sep 19, 2018
Intellectual disability, X-linked, syndromic 331Dec 22, 2020
Intellectual disability, autosomal dominant 301Oct 15, 2025
Intellectual disability, autosomal dominant 572Oct 15, 2025
Intellectual disability, autosomal dominant 91Mar 6, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Dec 22, 2020
Jalili syndrome2Mar 6, 2020
Joubert syndrome 131Mar 6, 2020
Joubert syndrome 52Mar 26, 2025
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
LAMB2-related infantile-onset nephrotic syndrome6Mar 6, 2020
Lambdoidal craniosynostosis1Mar 13, 2019
Laron-type isolated somatotropin defect1Dec 22, 2020
Leber congenital amaurosis 11Apr 20, 2017
Leber congenital amaurosis 101Mar 6, 2020
Leber congenital amaurosis 122Jul 23, 2025
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
Li-Fraumeni syndrome 11Apr 20, 2017
Loeys-Dietz syndrome 11Dec 22, 2020
Long QT syndrome 16Jan 10, 2025
Long QT syndrome 31Mar 6, 2020
Long QT syndrome 61Mar 6, 2020
Lowe syndrome1Mar 6, 2020
Lynch syndrome 11Oct 15, 2025
Lynch syndrome 43Mar 13, 2019
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss10Mar 6, 2020
Macular degeneration, early-onset1Oct 15, 2025
Maple syrup urine disease3Jan 24, 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
Maturity-onset diabetes of the young type 61Mar 13, 2019
Maturity-onset diabetes of the young type 91Apr 20, 2017
Meckel syndrome, type 41Mar 26, 2025
Metachondromatosis1Mar 6, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Dec 22, 2020
Methylmalonic aciduria, cblB type1Dec 20, 2017
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability2Mar 6, 2020
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Mar 6, 2020
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Mar 13, 2019
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Oct 15, 2025
Mitochondrial trifunctional protein deficiency1Sep 19, 2018
Mucolipidosis type II1Dec 22, 2020
Multiple acyl-CoA dehydrogenase deficiency1Dec 20, 2017
Multiple endocrine neoplasia, type 11Oct 15, 2025
Multiple epiphyseal dysplasia type 12Dec 22, 2020
Myopia, high, with cataract and vitreoretinal degeneration1Mar 13, 2019
NEK9-related lethal skeletal dysplasia1Mar 6, 2020
Nail-patella syndrome6Mar 6, 2020
Nephronophthisis 152Dec 22, 2020
Nephronophthisis 44Mar 6, 2020
Nephrotic syndrome 141Sep 19, 2018
Nephrotic syndrome, type 125Mar 6, 2020
Nephrotic syndrome, type 210Mar 6, 2020
Nephrotic syndrome, type 33Mar 13, 2019
Nephrotic syndrome, type 48Mar 6, 2020
Nephrotic syndrome, type 91Sep 19, 2018
Neurodevelopmental disorder with dystonia and seizures1Oct 15, 2025
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements1Oct 15, 2025
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
Nonsyndromic congenital nail disorder 42Jan 24, 2017
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 111Apr 20, 2017
Osteogenesis imperfecta type 121Mar 6, 2020
Osteogenesis imperfecta type 51Sep 19, 2018
Osteogenesis imperfecta type 61Apr 20, 2017
Osteogenesis imperfecta type 81Dec 20, 2017
Osteogenesis imperfecta type I7Mar 13, 2019
Osteogenesis imperfecta, perinatal lethal2Dec 22, 2020
Osteogenesis imperfecta, type 191Dec 22, 2020
Osteopetrosis with renal tubular acidosis1Dec 20, 2017
PHARC syndrome1Oct 10, 2016
PPARG-related familial partial lipodystrophy1Dec 7, 2016
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1Dec 22, 2020
Pancreatic triacylglycerol lipase deficiency1Dec 20, 2017
Peutz-Jeghers syndrome1Jan 31, 2025
Pfeiffer syndrome1Dec 22, 2020
Phelan-McDermid syndrome1Dec 20, 2017
Pigmentary retinal dystrophy1Mar 6, 2020
Pilarowski-Bjornsson syndrome2Mar 13, 2019
Polycystic kidney disease 215Dec 22, 2020
Polycystic kidney disease 6 with or without polycystic liver disease1Dec 22, 2020
Polycystic kidney disease, adult type110Oct 15, 2025
Polycystic liver disease 12Dec 22, 2020
Polycystic liver disease 22Dec 22, 2020
Polycystic liver disease 4 with or without kidney cysts1Dec 22, 2020
Porphobilinogen synthase deficiency1Dec 20, 2017
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Dec 20, 2017
Primary ciliary dyskinesia 31Dec 20, 2017
Primary hyperoxaluria type 33Dec 20, 2017
Primary hyperoxaluria, type II1Mar 6, 2020
Primary hypomagnesemia1Apr 20, 2017
Protoporphyria, erythropoietic, 12Oct 15, 2025
Proximal symphalangism 1A1Sep 19, 2018
Pseudohypoaldosteronism, type IB1, autosomal recessive1Dec 22, 2020
Pyridoxal phosphate-responsive seizures2Dec 20, 2017
RFT1-congenital disorder of glycosylation1Dec 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 tubular acidosis with progressive nerve deafness1Mar 13, 2019
Retinitis pigmentosa 12Mar 6, 2020
Retinitis pigmentosa 101Mar 6, 2020
Retinitis pigmentosa 115Dec 22, 2020
Retinitis pigmentosa 21Mar 13, 2019
Retinitis pigmentosa 201Mar 6, 2020
Retinitis pigmentosa 258Dec 22, 2020
Retinitis pigmentosa 263Mar 6, 2020
Retinitis pigmentosa 281Oct 15, 2025
Retinitis pigmentosa 31Dec 20, 2017
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 71Apr 20, 2026
Retinitis pigmentosa 802Mar 13, 2019
Retinoblastoma2Mar 13, 2019
Rett syndrome1Jan 24, 2017
Rubinstein-Taybi syndrome due to CREBBP mutations2Dec 20, 2017
SHOX-related short stature6Oct 15, 2025
Sandhoff disease2Feb 18, 2026
Schimke immuno-osseous dysplasia6Dec 22, 2020
Seizures, benign familial neonatal, 11Dec 22, 2020
Severe early-childhood-onset retinal dystrophy4Oct 15, 2025
Severe intellectual disability-progressive spastic diplegia syndrome1Mar 13, 2019
Severe myoclonic epilepsy in infancy1Dec 22, 2020
Short QT syndrome type 11Mar 6, 2020
Short-rib thoracic dysplasia 14 with polydactyly1Mar 6, 2020
Sotos syndrome2Dec 22, 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 multiple dislocations1Dec 22, 2020
Spondyloperipheral dysplasia1Mar 6, 2020
Stickler syndrome type 11Mar 13, 2019
Syndactyly type 51Mar 6, 2020
Thrombocytopenia 11Mar 6, 2020
Thrombophilia due to protein C deficiency, autosomal dominant2Dec 20, 2017
Thyroid dyshormonogenesis 61Oct 15, 2025
Thyroid hormone resistance, generalized, autosomal dominant1Jan 24, 2017
Townes-Brocks syndrome 14Mar 6, 2020
Treacher Collins syndrome 11Dec 22, 2020
Tuberous sclerosis 26Dec 22, 2020
Type 2 diabetes mellitus3Oct 15, 2025
Type II complement component 8 deficiency1Mar 6, 2020
Tyrosinemia type I1Mar 13, 2019
Ulnar/fibula ray defect-brachydactyly syndrome1Oct 10, 2016
Upshaw-Schulman syndrome2Apr 20, 2017
Usher syndrome type 14Mar 6, 2020
Usher syndrome type 1D2Sep 19, 2018
Usher syndrome type 2A8Oct 15, 2025
Usher syndrome type 2C6Mar 6, 2020
Usher syndrome type 2D1Mar 6, 2020
Usher syndrome type 31Sep 19, 2018
Usher syndrome type 3A1Dec 22, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Dec 20, 2017
Vici syndrome1Dec 7, 2016
Vitamin D-dependent rickets type II with alopecia1Dec 22, 2020
Vitamin K-dependent clotting factors, combined deficiency of, type 12Dec 22, 2020
Vitelliform macular dystrophy 21Oct 15, 2025
Vitelliform macular dystrophy 31Oct 15, 2025
Vitelliform macular dystrophy 51Sep 19, 2018
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 Alport syndrome85Oct 15, 2025
X-linked cone-rod dystrophy 31Dec 7, 2016
X-linked intellectual disability, Stocco dos Santos type2Dec 22, 2020
ZTTK syndrome1Dec 22, 2020
alpha Thalassemia1Mar 13, 2019
beta Thalassemia2Mar 6, 2020
von Willebrand disease type 12Mar 6, 2020