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University of Washington Center for Mendelian Genomics (University of Washington), UW-CMG

General information

University of Washington Center for Mendelian Genomics, UW-CMG
University of Washington
Seattle
United States - 98195
http://uwcmg.org
Organization ID: 505516

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1511

Gene

GeneSubmissionsLast Updated
A2ML116Feb 28, 2020
A2ML1-AS12Feb 28, 2020
ABHD51Nov 16, 2020
ABL12Jul 20, 2021
ACACB1Nov 16, 2020
ACADVL1Nov 16, 2020
ACSS21May 22, 2018
ACTG13Nov 16, 2020
ACTG22May 3, 2019
ADGRV11Nov 16, 2020
ADNP1Nov 16, 2020
AGMAT1Feb 28, 2020
AHDC11Aug 31, 2020
ALDH3A21Nov 16, 2020
ALG132May 3, 2019
ALG133Jul 20, 2021
ALG314Jul 20, 2021
ALOXE33Nov 16, 2020
ARHGEF251Feb 28, 2020
ARID1A1Jul 20, 2021
ARID1B3Jul 20, 2021
ARIH13Nov 16, 2020
ARMC912Aug 31, 2020
ASAH11Nov 5, 2019
ASPM1Nov 16, 2020
ASXL13Nov 16, 2020
ATAD3A1May 3, 2019
ATP10A1Nov 16, 2020
AUTS21Aug 31, 2020
BACH11Aug 31, 2020
BAG31Aug 31, 2020
BAG61Aug 31, 2020
BCKDK1Nov 16, 2020
BCL11A2Aug 31, 2020
BIRC61Nov 16, 2020
BIVM-ERCC51Nov 16, 2020
BLOC1S61May 3, 2019
BMP21Feb 28, 2020
BMPR1B1Nov 16, 2020
BRAF1Aug 31, 2020
BRCA14Jul 20, 2021
BSND1Nov 16, 2020
C10orf1052Nov 16, 2020
C1R14May 22, 2018
C1RL1May 22, 2018
C1S2May 22, 2018
CABP21Nov 16, 2020
CACNA1D2Nov 16, 2020
CACNG71Nov 16, 2020
CANT11Nov 16, 2020
CAPRIN11Feb 28, 2020
CARD117Jul 20, 2021
CARD11-AS11Jul 20, 2021
CARNMT11Nov 16, 2020
CASC192Aug 31, 2020
CASC212Aug 31, 2020
CASC82Aug 31, 2020
CASK4Aug 31, 2020
CAV12Sep 11, 2015
CCDC1831Jul 20, 2021
CCDC183-AS11Jul 20, 2021
CCDST1Nov 16, 2020
CDC429Nov 16, 2020
CDH110Aug 31, 2020
CDH181May 22, 2018
CDH26Feb 28, 2020
CDH2-AS12Feb 28, 2020
CDH2316Nov 16, 2020
CEP418Feb 28, 2020
CEP781Feb 28, 2020
CEP85L10Aug 31, 2020
CHD47Feb 28, 2020
CHD4-AS13Feb 28, 2020
CHD715Nov 5, 2019
CHD81Nov 16, 2020
CHSY11Feb 28, 2020
CIB22Nov 16, 2020
CIBAR11Nov 5, 2019
CILK11May 22, 2018
CLCNKA1Nov 16, 2020
CLDN141Nov 16, 2020
CLDN14-AS11Nov 16, 2020
CLSTN31Nov 16, 2020
CNNM21Feb 28, 2020
CNOT33Feb 28, 2020
COL1A11Nov 16, 2020
COL7A11Nov 16, 2020
COL9A31Nov 16, 2020
CRADD1Nov 16, 2020
CREB3L11Nov 5, 2019
CREBBP1Jul 20, 2021
CSMD11Nov 16, 2020
CSMD21May 3, 2019
CTNND111Nov 5, 2019
CUL21Feb 28, 2020
CWF19L11Nov 16, 2020
CYB5R31Nov 16, 2020
DAGLA1May 3, 2019
DCDC22May 22, 2018
DCX3Nov 16, 2020
DDX3X2Aug 31, 2020
DDX545Feb 28, 2020
DHX164Feb 28, 2020
DHX343Feb 28, 2020
DHX377Feb 28, 2020
DHX381Nov 5, 2019
DKC11Aug 31, 2020
DLG41Nov 16, 2020
DMXL21Nov 16, 2020
DNHD11Jul 20, 2021
DNM21Feb 28, 2020
DPAGT112Nov 16, 2020
DPYSL51Aug 31, 2020
DSP1Aug 31, 2020
DST2Nov 16, 2020
DUOX25May 22, 2018
DUSP291Aug 31, 2020
DYNC1H121Nov 16, 2020
DYNC2H1134Nov 16, 2020
DYNC2I16Nov 16, 2020
DYNC2I27Nov 16, 2020
DYNC2LI11Nov 16, 2020
DYNLT41Nov 16, 2020
ECEL17Oct 6, 2020
EDNRB1Nov 16, 2020
EDNRB-AS11Nov 16, 2020
EEF1D1Feb 28, 2020
EEF2KMT1May 3, 2019
EI241Nov 16, 2020
ELP41Nov 16, 2020
EP3001Nov 5, 2019
EPS81Nov 16, 2020
ERCC44Nov 5, 2019
ERCC51Nov 16, 2020
ESPN1Nov 16, 2020
ESRP25Nov 5, 2019
ESRRB1Nov 16, 2020
EVC6Nov 16, 2020
EVC213Nov 16, 2020
FAM228B1Jul 20, 2021
FASN1Nov 16, 2020
FBN113May 22, 2018
FBRSL11Feb 28, 2020
FBXL41Feb 28, 2020
FBXO1121Nov 16, 2020
FERMT11Nov 16, 2020
FGFR13Aug 31, 2020
FLG1Nov 16, 2020
FLNC1Jul 20, 2021
FLVCR12May 22, 2018
FOXE36May 22, 2018
FOXP12Aug 31, 2020
FST1Feb 28, 2020
FUT210Nov 16, 2020
FUZ2Nov 16, 2020
FXR11Nov 16, 2020
FZD31Aug 31, 2020
GAN1Nov 16, 2020
GARNL31Nov 16, 2020
GAS2L21Feb 28, 2020
GATA42Jul 20, 2021
GDF111Feb 28, 2020
GEMIN51Jul 20, 2021
GET42Aug 31, 2020
GFM12May 3, 2019
GIPC31Nov 16, 2020
GJB210Nov 16, 2020
GLE13Nov 16, 2020
GNAI31Sep 16, 2015
GNB110Nov 16, 2020
GPR1511Jul 20, 2021
GPSM21Nov 16, 2020
GPT21Nov 16, 2020
GRAMD1B1Nov 16, 2020
GRIA11Nov 16, 2020
GRK23Jul 20, 2021
GRM51Nov 16, 2020
GRXCR12Nov 16, 2020
GUCY1A13May 22, 2018
HDAC81Sep 11, 2015
HKDC12May 22, 2018
HMOX11Jul 20, 2021
HPS12May 3, 2019
HPS31May 3, 2019
HPS41May 3, 2019
HPS61May 3, 2019
HYLS12Aug 31, 2020
IFT1405Nov 16, 2020
IFT1721Nov 16, 2020
IFT433Nov 16, 2020
IFT523Nov 16, 2020
IFT544Nov 16, 2020
IFT742Nov 16, 2020
IFT807Nov 16, 2020
IFT812May 22, 2018
IFT881Nov 16, 2020
ILDR15Nov 16, 2020
ILDR21Feb 28, 2020
INPPL17Sep 15, 2015
INTU6Nov 16, 2020
JMJD1C1Nov 16, 2020
KAAG11May 22, 2018
KAT6A1Nov 16, 2020
KAT6B1Aug 31, 2020
KCNF11Feb 28, 2020
KCNK91Nov 16, 2020
KCNS31Nov 16, 2020
KCTD110Sep 15, 2015
KDM1A3Mar 17, 2016
KDM6A1Nov 5, 2019
KIAA08252Feb 28, 2020
KIF4A1Aug 31, 2020
KIRREL31Nov 16, 2020
KMT2A1Feb 28, 2020
KMT2B1Jul 20, 2021
KMT2D2Feb 28, 2020
KMT5B1Nov 16, 2020
KRT141Nov 16, 2020
L1CAM1Aug 31, 2020
LAMA53Jul 20, 2021
LAMB11Nov 16, 2020
LARP4B1Nov 16, 2020
LBR2Nov 16, 2020
LHFPL52Nov 16, 2020
LINC013896May 22, 2018
LMBR11Jul 20, 2021
LMNA5Aug 31, 2020
LMX1A1Nov 5, 2019
LOC1019292703Nov 16, 2020
LOC1053710464Nov 16, 2020
LOC1053715664Nov 16, 2020
LOC1053718564Feb 28, 2020
LOC1053757511Aug 31, 2020
LOC1054476459Nov 16, 2020
LOC1065017121Nov 16, 2020
LOC1119828632Nov 16, 2020
LOC1119828691Nov 16, 2020
LOC1124414443Jun 3, 2020
LOC1221522961Feb 28, 2020
LOC1239562101Nov 16, 2020
LOC1268056881Nov 16, 2020
LOC1268061741Nov 16, 2020
LOC1268064621Nov 16, 2020
LOC1268069612Nov 16, 2020
LOC1268071512Nov 16, 2020
LOC1268607723Nov 16, 2020
LOC1268609701Nov 16, 2020
LOC1268609711Nov 16, 2020
LOC1268613603Nov 16, 2020
LOC1268613651Nov 16, 2020
LOC1268618341Nov 16, 2020
LOC1268621241May 22, 2018
LOC1268630181May 22, 2018
LOC1299292001Nov 16, 2020
LOC1299311081Sep 16, 2015
LOC1299314681Feb 28, 2020
LOC1299324861May 22, 2018
LOC1299970712Aug 31, 2020
LOC1300019001Nov 16, 2020
LOC1300060291Nov 16, 2020
LOC1300063272Sep 15, 2015
LOC1300574781Nov 16, 2020
LOC1300583841May 3, 2019
LORICRIN1Feb 28, 2020
LOX8May 22, 2018
LRP21Nov 16, 2020
LRP42Nov 5, 2019
LRP4-AS11Nov 5, 2019
LTBP33Nov 16, 2020
LURAP1L-AS12May 22, 2018
LZTR11Nov 16, 2020
MACF17Nov 16, 2020
MAEL1Feb 28, 2020
MANBA1Feb 28, 2020
MAP3K11Feb 28, 2020
MAP3K111Feb 28, 2020
MARVELD22Nov 16, 2020
MAST41Feb 28, 2020
MBOAT71Nov 16, 2020
MC1R6May 3, 2019
MCM3AP1Nov 16, 2020
MECR6May 22, 2018
MED13L1Nov 16, 2020
MEF2C1Nov 16, 2020
MLYCD1Nov 16, 2020
MMP101Jul 20, 2021
MN115Aug 31, 2020
MS4A141Jul 20, 2021
MSH68Nov 16, 2020
MSRB31Nov 16, 2020
MYH36May 22, 2018
MYH61Jul 20, 2021
MYH91Feb 28, 2020
MYL114Jun 3, 2020
MYO15A6Nov 16, 2020
MYO61Jul 20, 2021
MYO7A27Nov 16, 2020
MYPN1Aug 31, 2020
MYRF9Nov 16, 2020
MYT11Nov 16, 2020
NALCN15Nov 16, 2020
NEK112Nov 16, 2020
NEXN1Aug 31, 2020
NF11Feb 28, 2020
NOTCH18Jul 20, 2021
NR1D21May 3, 2019
NR4A21Nov 16, 2020
NSUN22Jul 20, 2021
OCA214May 22, 2018
OPHN11Aug 31, 2020
OR5K31Jul 20, 2021
OR5K41Jul 20, 2021
OR6C11Jul 20, 2021
OTOA2Nov 16, 2020
OTOF10Nov 16, 2020
OTOG1Nov 16, 2020
PAFAH1B113Nov 16, 2020
PAFAH1B31Nov 16, 2020
PARN12Nov 5, 2019
PCDH152Nov 16, 2020
PCNX31Feb 28, 2020
PDGFRB1Aug 31, 2020
PHYH3May 22, 2018
PIBF12Aug 31, 2020
PID11Feb 28, 2020
PIEZO214Sep 15, 2015
PIK3CD1Feb 28, 2020
PJVK4Nov 16, 2020
PKD1L31Jul 20, 2021
PLCB45Sep 16, 2015
PLCG1-AS11Nov 16, 2020
PLEKHA55Nov 5, 2019
PLEKHA76Nov 5, 2019
PLN1Aug 31, 2020
PLS11Feb 28, 2020
PMM22Aug 31, 2020
PNKD1Feb 28, 2020
PNPLA11May 22, 2018
POGZ2Jul 20, 2021
POLR3A13Nov 16, 2020
POU4F31Nov 16, 2020
PPOX1Nov 16, 2020
PPP1CB1Aug 31, 2020
PRNCR11Aug 31, 2020
PRR124Jul 20, 2021
PRSS481Jul 20, 2021
PTPRQ2Nov 16, 2020
PTPRS2Feb 28, 2020
PTPRT1Nov 16, 2020
PUF601Nov 5, 2019
PUS32Aug 31, 2020
PYCR18Nov 16, 2020
QARS11May 3, 2019
RARS22Aug 31, 2020
RBM202Aug 31, 2020
RBM27-POU4F31Nov 16, 2020
RELN6Nov 16, 2020
RERE2Nov 16, 2020
RNF2135Jul 20, 2021
RNF213-AS15Jul 20, 2021
ROBO42Jul 20, 2021
RPS262Sep 14, 2015
RPS281Sep 14, 2015
RPS6KA21Nov 16, 2020
RRP82Jul 20, 2021
RTEL19Sep 14, 2015
RTEL1-TNFRSF6B9Sep 14, 2015
SAMD9L3Jul 20, 2021
SATB21Nov 16, 2020
SCARF23Jul 20, 2021
SCEL1Feb 28, 2020
SDK11Nov 16, 2020
SEMA6B1Aug 31, 2020
SETD22Aug 31, 2020
SETD53Feb 28, 2020
SH3D191Jul 20, 2021
SKIC21Jul 20, 2021
SLC24A11Feb 28, 2020
SLC25A162Nov 16, 2020
SLC26A417Nov 16, 2020
SLC26A4-AS13Nov 16, 2020
SLC26A5-AS11Nov 16, 2020
SLC35A12Nov 5, 2019
SLC35A23Sep 11, 2015
SLC35C11Jul 20, 2021
SLC37A41Jul 20, 2021
SLC45A21May 22, 2018
SLC52A21Aug 31, 2020
SLC9A31Nov 16, 2020
SLFN111Feb 28, 2020
SLITRK52Nov 16, 2020
SLTM1May 22, 2018
SMAD44Feb 28, 2020
SMAD62Jul 20, 2021
SMARCAD11Nov 16, 2020
SMC21Nov 16, 2020
SMC31Nov 16, 2020
SMG91Nov 16, 2020
SON17May 22, 2018
SORL11Feb 28, 2020
SOS16Jul 20, 2021
SOX44Feb 28, 2020
SOX94Feb 28, 2020
SPG111Nov 16, 2020
SPINK51Jul 20, 2021
SPTAN12Nov 16, 2020
SPTBN21Nov 16, 2020
SRD5A34May 3, 2019
SRD5A3-AS12May 3, 2019
SRFBP18May 22, 2018
SRGAP31Feb 28, 2020
SSR31Feb 28, 2020
SSR41Sep 11, 2015
ST141Aug 31, 2020
STARD91Nov 16, 2020
STT3A-AS11Nov 16, 2020
STXBP13Nov 16, 2020
SYNCRIP2Nov 16, 2020
TAF11Jul 20, 2021
TANC221Feb 28, 2020
TBC1D91May 3, 2019
TBCEL-TECTA5Nov 16, 2020
TBCK3May 22, 2018
TBRG11Nov 16, 2020
TCIRG11Sep 15, 2015
TECPR11Feb 28, 2020
TECTA5Nov 16, 2020
TENM11Feb 28, 2020
TET311Nov 16, 2020
TGM11May 22, 2018
TGM41Jul 20, 2021
THBS11Nov 16, 2020
TJP21Nov 2, 2015
TMBIM11Feb 28, 2020
TMC116Nov 16, 2020
TMIE2Nov 16, 2020
TMLHE1Aug 31, 2020
TMPRSS36Nov 16, 2020
TMX2-CTNND111Nov 5, 2019
TNRC6B1Nov 16, 2020
TOE112May 3, 2019
TOGARAM18Aug 31, 2020
TONSL18Feb 28, 2020
TONSL-AS18Feb 28, 2020
TOP11Nov 16, 2020
TP731Nov 16, 2020
TPRN1Nov 16, 2020
TRANK12Nov 16, 2020
TRAPPC101Nov 16, 2020
TRIM59-IFT807Nov 16, 2020
TRIOBP2Nov 16, 2020
TRPV41May 22, 2018
TSR21Sep 14, 2015
TTC21B10Nov 16, 2020
TTC21B-AS11Nov 16, 2020
TTN3Jul 20, 2021
TTN-AS13Jul 20, 2021
TUB1Nov 16, 2020
TUBA1A7Nov 16, 2020
TUBB1Nov 16, 2020
TUBB2A1Aug 31, 2020
TUBB2B5Nov 16, 2020
TUBB31Nov 16, 2020
TUBG12Nov 16, 2020
TUSC31Nov 16, 2020
TYR14May 22, 2018
TYRP13May 22, 2018
UPF21Nov 16, 2020
USH1C2Nov 16, 2020
USH1G5Nov 16, 2020
USH2A3Nov 16, 2020
USH2A-AS11Nov 16, 2020
VPS13B1Jul 20, 2021
VWA85May 22, 2018
WDFY31Nov 16, 2020
WDFY3-AS11Nov 16, 2020
WDPCP3May 3, 2019
WDR1911Nov 16, 2020
WDR3510Nov 16, 2020
WDR371Aug 31, 2020
WDR622Nov 16, 2020
WDR831May 3, 2019
WDR83OS1May 3, 2019
WHRN1Nov 16, 2020
XKR71Feb 28, 2020
YARS11Nov 16, 2020
YY1AP12May 22, 2018
ZFHX31Feb 28, 2020
ZGRF12May 22, 2018
ZMIZ113Nov 16, 2020
ZNF29234Feb 28, 2020
ZNF4181Feb 28, 2020
ZNF5281Jul 20, 2021
ZSWIM61Sep 14, 2015

Condition

NameSubmissionsLast Updated
ALG3-congenital disorder of glycosylation13Jul 20, 2021
ARID1A duplication associated intellectual disability syndrome1Jul 20, 2021
Abnormal facial shape9Nov 16, 2020
Abnormal heart morphology9Nov 16, 2020
Abnormality of blood and blood-forming tissues9Nov 16, 2020
Abnormality of the immune system9Nov 16, 2020
Acheiropodia1Jul 20, 2021
Acromelic frontonasal dysostosis1Sep 14, 2015
Acromesomelic dysplasia 2C, Hunter-Thompson type1Nov 16, 2020
Acute aortic dissection27May 22, 2018
Aortic aneurysm3Nov 16, 2020
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome11Sep 15, 2015
Asphyxiating thoracic dystrophy 382Nov 16, 2020
Ataxia-pancytopenia syndrome2May 22, 2018
Attention deficit hyperactivity disorder5May 3, 2019
Auriculocondylar syndrome 16Sep 16, 2015
Autism spectrum disorder66Nov 16, 2020
Autosomal dominant nonsyndromic hearing impairment1Feb 28, 2020
Autosomal recessive Stickler syndrome1Nov 16, 2020
Autosomal recessive congenital ichthyosis 111Aug 31, 2020
Autosomal recessive nonsyndromic postaxial polydactyly2Feb 28, 2020
Autosomal recessive retinitis pigmentosa1Nov 5, 2019
Autosomal-Recessive Hereditary Hearing Impairment1Nov 5, 2019
Blepharocheilodontic syndrome 12Aug 31, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type1Aug 31, 2020
Brown-Vialetto-van Laere syndrome 21Aug 31, 2020
CHARGE syndrome20Nov 5, 2019
Camptomelic dysplasia4Feb 28, 2020
Cerebellar vermis hypoplasia2Aug 31, 2020
Childhood Onset Dystonias6May 22, 2018
Childhood apraxia of speech3May 22, 2018
Cholestasis, progressive familial intrahepatic, 41Nov 2, 2015
Chronic intestinal pseudoobstruction2May 3, 2019
Cleft lip with or without cleft palate33Nov 5, 2019
Cleft lip/palate2Aug 31, 2020
Coffin-Siris syndrome 11Jul 20, 2021
Cohen syndrome1Jul 20, 2021
Combined oxidative phosphorylation deficiency2May 3, 2019
Congenital aneurysm of ascending aorta27May 22, 2018
Congenital cerebellar hypoplasia32Aug 31, 2020
Congenital contractures of the limbs and face, hypotonia, and developmental delay14Sep 15, 2015
Congenital diaphragmatic hernia6Nov 16, 2020
Congenital disorder of glycosylation52Jul 20, 2021
Congenital generalized lipodystrophy type 32Sep 11, 2015
Congenital heart defects and skeletal malformations syndrome1Jul 20, 2021
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3Sep 15, 2015
Cornelia de Lange syndrome 51Sep 11, 2015
Corpus callosum, agenesis of1Nov 16, 2020
Dandy-Walker syndrome12Aug 31, 2020
Developmental delay8Feb 28, 2020
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis4Sep 14, 2015
Distal arthrogryposis4Jun 3, 2020
Distal arthrogryposis type 5D7Oct 6, 2020
Dystonic disorder1Jul 20, 2021
Early age onset of sporadic thoracic aortic dissections2Feb 28, 2020
Ehlers-Danlos syndrome, periodontal type 216May 22, 2018
Ellis-van Creveld syndrome5Nov 16, 2020
Encephalocraniocutaneous lipomatosis2May 22, 2018
Epidermolysis bullosa dystrophica1Nov 16, 2020
Epilepsy2Feb 28, 2020
Essential tremor15Jul 20, 2021
Familial Autism Spectrum Disorder8Feb 28, 2020
Familial Interstitial Pneumonia12Nov 5, 2019
Familial Otitis Media10Nov 16, 2020
Familial atrioventricular septal defect1May 3, 2019
Familial prostate cancer8Aug 31, 2020
Fanconi anemia complementation group A2Sep 11, 2015
Fanconi anemia, complementation group S2Jul 20, 2021
Finnish congenital nephrotic syndrome1May 18, 2018
GET4 deficiency2Aug 31, 2020
Genitopatellar syndrome1Aug 31, 2020
Gordon syndrome2Sep 15, 2015
Grange syndrome2May 22, 2018
Growth delay1May 3, 2019
Harel-Yoon syndrome1May 3, 2019
Hearing impairment14Feb 28, 2020
Hearing loss, autosomal recessive156Nov 16, 2020
Heme oxygenase 1 deficiency1Jul 20, 2021
Hepatic steatosis1Nov 16, 2020
Heritable Thoracic Aortic Disease3Nov 16, 2020
Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia1Feb 28, 2020
Hermansky-Pudlak syndrome6May 3, 2019
Hutchinson-Gilford syndrome4Nov 5, 2019
Hypoplastic left heart syndrome7Nov 16, 2020
Hypotonia9May 22, 2018
Ichthyosis4May 22, 2018
Ichthyosis vulgaris1Nov 16, 2020
Immunodeficiency 11b with atopic dermatitis7Jul 20, 2021
Inherited isolated nail anomaly1May 22, 2018
Intellectual Disability with multiple congenital anomalies1Feb 28, 2020
Intellectual disability30Nov 16, 2020
Intellectual disability, X-linked, syndromic 331Jul 20, 2021
Intellectual disability, autosomal dominant 132Sep 11, 2015
Intellectual disability, autosomal recessive 52Jul 20, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Jul 20, 2021
Interstitial lung disease 29Sep 14, 2015
Isolated hand syndactyly2Nov 5, 2019
Isolated neonatal sclerosing cholangitis2May 22, 2018
Jeune thoracic dystrophy111Jul 20, 2021
Joubert syndrome19Aug 31, 2020
Keloid formation1Nov 5, 2019
Kindler syndrome1Nov 16, 2020
Lamellar ichthyosis1Nov 16, 2020
Lethal arthrogryposis-anterior horn cell disease syndrome3Nov 16, 2020
Leukocyte adhesion deficiency type II1Jul 20, 2021
Lissencephaly58Nov 16, 2020
MN1 C-terminal truncation (MCTT) syndrome10Aug 31, 2020
Marden-Walker syndrome1Sep 15, 2015
Menke-Hennekam syndrome 11Jul 20, 2021
Metatropic dysplasia1May 22, 2018
Mild facial and digital morphological abnormalities4Feb 28, 2020
Mohr syndrome1May 3, 2019
Moyamoya angiopathy36Feb 28, 2020
Moyamoya angiopathy with developmental delay13Feb 28, 2020
Moyamoya disease2Jul 20, 2021
Moyamoya disease 13May 22, 2018
Multiple epiphyseal dysplasia1Nov 16, 2020
Neonatal pseudo-hydrocephalic progeroid syndrome10Nov 16, 2020
Nephronophthisis1May 3, 2019
Neurodevelopmental Disability9May 22, 2018
Neurodevelopmental abnormality9Nov 16, 2020
Neurodevelopmental disorder65Nov 16, 2020
Neurodevelopmental disorders19Feb 28, 2020
Neutropenia, severe congenital, 1, autosomal dominant1Sep 15, 2015
Non-Syndromic Hereditary Hearing Impairment3Nov 5, 2019
Nongoitrous Euthyroid Hyperthyrotropinemia5May 22, 2018
Nonsyndromic Oculocutaneous Albinism32May 22, 2018
Nonsyndromic cleft lip palate11May 22, 2018
Opsismodysplasia7Sep 15, 2015
Optic atrophy6May 22, 2018
Orofacial cleft2Feb 28, 2020
Orofaciodigital syndrome2May 3, 2019
Osteogenesis imperfecta1Nov 5, 2019
Otitis media16Feb 28, 2020
Otitis media, susceptibility to1Jul 20, 2021
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3Mar 17, 2016
Pontocerebellar hypoplasia type 712May 3, 2019
Postaxial polydactyly type A1Nov 5, 2019
Posterior Predominant Lissencephaly9Aug 31, 2020
Postnatal growth retardation9Nov 16, 2020
Presynaptic congenital myasthenic syndrome1Nov 16, 2020
Primary amenorrhea1Nov 16, 2020
Primary ciliary dyskinesia1Feb 28, 2020
Primary dilated cardiomyopathy23Jul 20, 2021
Pulmonary fibrosis12Nov 5, 2019
Pulmonary hypertension, primary, 31Sep 11, 2015
Retinal degeneration1Nov 16, 2020
Rubinstein Taybi like syndrome4Feb 28, 2020
SLC35A1-congenital disorder of glycosylation2Nov 5, 2019
SLC35A2-congenital disorder of glycosylation3Sep 11, 2015
SSR4-congenital disorder of glycosylation1Sep 11, 2015
Scalp-ear-nipple syndrome10Sep 15, 2015
Schizophrenia1Feb 28, 2020
Seizure9May 22, 2018
Severe hearing impairment1Nov 16, 2020
Short rib-polydactyly syndrome13May 3, 2019
Short-rib thoracic dysplasia 6 with or without polydactyly31Nov 16, 2020
Sinoatrial node dysfunction and deafness2Nov 16, 2020
Sjögren-Larsson syndrome2Nov 16, 2020
Skeletal dysplaisia with extra-skeletal manifestations6Feb 28, 2020
Skin and Hair Hypopigmentation6May 3, 2019
Sponastrime dysplasia12Feb 28, 2020
Spondylocarpotarsal synostosis syndrome3May 22, 2018
Syndromic Infantile Encephalopathy3May 22, 2018
Syndromic neurodevelopmental disorder19Nov 16, 2020
TET3 deficiency10Aug 31, 2020
Thoracic aortic aneurysm7Jul 20, 2021
Trichohepatoenteric syndrome 21Jul 20, 2021
Triglyceride storage disease with ichthyosis1Nov 16, 2020
Type IV short rib polydactyly syndrome11Nov 16, 2020
Urogenital tract malformation9Nov 16, 2020
Van den Ende-Gupta syndrome3Jul 20, 2021
Variegate porphyria1Nov 16, 2020
Wiedemann-Rautenstrauch-like progeroid syndrome13Nov 16, 2020
X-linked deletion syndrome1Jul 20, 2021
Xeroderma pigmentosum1Nov 16, 2020
ZTTK syndrome17May 22, 2018
autosomal recessive isolated fingernail dysplasia1Nov 16, 2020
complex microphthalmia4Jul 20, 2021
distinct bent bone dysplasia2Jul 20, 2021
interferonopathy1Jul 20, 2021
lissencephaly with brainstem hypoplasia5Nov 16, 2020
not provided5Aug 31, 2020