Molecular Diagnostics Laboratory (M Health Fairview: University of Minnesota), UMMC-MDL

General information

Molecular Diagnostics Laboratory, UMMC-MDL
M Health Fairview: University of Minnesota
420 Delaware St.
Minneapolis
Minnesota
United States - 55455
https://www.pathology.umn.edu/clinical-services
Organization ID: 506641

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 393

Gene

GeneSubmissionsLast Updated
ABCA32Mar 27, 2020
ABCA42Jan 16, 2019
ABCC61Aug 8, 2018
ABCC81Nov 11, 2018
ABCD117Jun 10, 2021
ACADM1Mar 22, 2019
ACADS1Nov 11, 2018
ACADVL1Nov 11, 2018
ACVRL11Aug 8, 2018
ADGRV11Nov 11, 2018
AGL3Jul 18, 2019
ALPL5Oct 18, 2021
ANOS11Jan 16, 2019
APC1Nov 11, 2018
APOE1Jul 18, 2019
ARID1B1Aug 8, 2018
ARSB2Jan 16, 2019
ARX1Jan 14, 2021
ASS11Nov 11, 2018
ATL12Nov 11, 2018
ATP6V0A41Nov 11, 2018
ATP7B1Nov 11, 2018
AUH1Aug 22, 2018
AXIN21Apr 29, 2021
BBS11Nov 11, 2018
BBS71Aug 8, 2018
BCOR1Nov 11, 2018
BEST12Nov 11, 2018
BRCA21Jan 16, 2019
BRIP11Jan 14, 2021
BTD1Aug 5, 2019
CAPN31Aug 8, 2018
CASD11Dec 24, 2018
CCDC392Jan 14, 2021
CD40LG1Nov 11, 2018
CDH11Oct 18, 2021
CDH235Nov 11, 2018
CEACAM161Jul 18, 2019
CENPF2Jan 16, 2019
CEP1521Nov 11, 2018
CEP2901Aug 8, 2018
CHD71Jul 18, 2019
CLCN11Jan 16, 2019
CLCN71Aug 8, 2018
CLPB2Oct 18, 2021
CNGB31Jan 16, 2019
CNOT31Oct 18, 2021
COL11A14Jun 10, 2021
COL11A21Jan 16, 2019
COL17A14Jul 18, 2019
COL18A11Jan 16, 2019
COL1A11Jul 18, 2019
COL1A21Apr 29, 2021
COL2A12Oct 18, 2021
COL3A12Jun 10, 2021
COL4A21Nov 11, 2018
COL4A2-AS11Nov 11, 2018
COL4A33Nov 11, 2018
COL4A55Jan 16, 2019
COL5A11Aug 22, 2018
COL6A11Nov 11, 2018
COL6A31Aug 22, 2018
COL7A16Apr 29, 2021
COMP1Nov 11, 2018
CPS12Apr 29, 2021
CRYBB21Jan 14, 2021
CRYGD1Jun 10, 2021
CSF1R1Oct 18, 2021
CSPP11Jul 18, 2019
CTNS1Aug 22, 2018
CYBB1Nov 11, 2018
CYP1B12Oct 18, 2021
DOCK61Nov 11, 2018
EBF31Oct 18, 2021
ECEL11Aug 22, 2018
EDA2Jul 18, 2019
ELN1Mar 27, 2020
EPB411Jul 18, 2019
EPHB42Jun 10, 2021
ESPN1Nov 11, 2018
EXT21Nov 11, 2018
EYA41Nov 11, 2018
EYS2Aug 22, 2018
F81Jan 14, 2021
FAM161A1Nov 11, 2018
FANCA16Aug 5, 2019
FANCD22Jan 16, 2019
FANCG4Jan 16, 2019
FBN13Oct 18, 2021
FBP11Aug 22, 2018
FECH2Nov 11, 2018
FGFR11Apr 29, 2021
FLCN1Nov 11, 2018
FLNA2Jan 16, 2019
FOXC22Jan 14, 2021
FOXF11Oct 18, 2021
FRAS11Nov 11, 2018
GALC1Jul 18, 2019
GALNS2Jan 16, 2019
GATA21Nov 11, 2018
GATA31Apr 29, 2021
GBA1Nov 11, 2018
GCDH1Jan 16, 2019
GCK3Jul 18, 2019
GLB12Aug 22, 2018
GLMN1Mar 27, 2020
GLUD11Aug 22, 2018
GNAS2Jan 14, 2021
GPHN1Dec 24, 2018
GPR1432Mar 27, 2020
GPR1791Nov 11, 2018
HDAC81Nov 11, 2018
HMBS1Mar 27, 2020
HNF1B2Aug 5, 2019
IDH12Feb 3, 2021
IDUA1Nov 11, 2018
IL7R1Jul 18, 2019
INF21Oct 7, 2020
INPP4A1Dec 24, 2018
IQSEC21Nov 11, 2018
ITGA61Jan 16, 2019
ITGA6-AS11Jan 16, 2019
ITGB21Nov 11, 2018
ITGB32Nov 11, 2018
JAG12Jan 14, 2021
JMJD81Jan 16, 2019
KCNH21Oct 18, 2021
KMT2B1Apr 29, 2021
KMT2D1Sep 27, 2018
KRT51Nov 11, 2018
LAMA21Nov 11, 2018
LAMB21Nov 11, 2018
LAMC21Nov 11, 2018
LARS21Nov 11, 2018
LARS2-AS11Nov 11, 2018
LEMD32Nov 11, 2018
LIPA1Sep 27, 2018
LMX1B1Jan 14, 2021
LOC1005073461Sep 27, 2018
LOC1005074431Jun 10, 2021
LOC1066279811Nov 11, 2018
LOC1073033381Jan 16, 2019
LOC1119828691Nov 11, 2018
LOC1228890111Aug 22, 2018
LRP51Jan 16, 2019
LZTR11Jan 16, 2019
MED121Oct 18, 2021
MEN11Jan 16, 2019
MFF-DT3Nov 11, 2018
MFN21Nov 11, 2018
MRE111Jan 14, 2021
MSH61Oct 7, 2020
MTM11Sep 27, 2018
MYH31Mar 27, 2020
MYO7A2Sep 27, 2018
NAGS1Dec 24, 2018
NBAS2Jan 16, 2019
NBEAL21Oct 18, 2021
NBN1Jan 14, 2021
NEB1Sep 27, 2018
NF11Dec 24, 2018
NFIX1Dec 24, 2018
NFKB12Dec 24, 2018
NOTCH32Jan 16, 2019
NPC11Jan 14, 2021
NPHP41Oct 18, 2021
NPHS21Jul 18, 2019
NR3C21Dec 24, 2018
NSD11Jan 16, 2019
OCA21Jan 16, 2019
OFD11Mar 27, 2020
OPA11Apr 29, 2021
OTC2Apr 29, 2021
OTOA1Dec 24, 2018
OTOG2Jan 14, 2021
PAH3Jan 16, 2019
PAX21Jan 16, 2019
PCNT1Dec 24, 2018
PDZD71Mar 27, 2020
PEX11Sep 27, 2018
PHEX2Dec 24, 2018
PHF61Dec 24, 2018
PKD16Oct 18, 2021
PKD1-AS11Oct 18, 2021
PKHD12Jul 18, 2019
PNPLA21Sep 27, 2018
POLR3B1Sep 27, 2018
PPOX1Dec 24, 2018
PROC3Oct 18, 2021
PROM12Jan 16, 2019
PRPF311Jul 18, 2019
PRPF81Dec 24, 2018
PRPH21Dec 24, 2018
PRRT21Jul 18, 2019
PSEN11Oct 7, 2020
PTCH11Sep 27, 2018
PTCHD1-AS2Dec 24, 2018
PTEN5Jan 14, 2021
PURA1Dec 24, 2018
PYGM1Dec 24, 2018
RAB282Jun 10, 2021
RAP1B1Oct 18, 2021
RDH121Dec 24, 2018
RIF11Sep 27, 2018
RMND11Oct 7, 2020
RNU4ATAC1Dec 24, 2018
RP21Sep 27, 2018
RPGR5Mar 27, 2020
RPGRIP11Dec 24, 2018
RPS191Jun 10, 2021
RPS261Sep 27, 2018
RPS6KA31Sep 27, 2018
RUNX21Jan 14, 2021
RYR14Aug 5, 2019
SCN11A1Jul 18, 2019
SCN1A1Mar 27, 2020
SDCCAG84Dec 24, 2018
SERAC12Jun 10, 2021
SFTPC2Apr 29, 2021
SGCE1Dec 24, 2018
SH3TC21Mar 27, 2020
SLC12A11Dec 24, 2018
SLC12A32Jun 10, 2021
SLC19A11Jan 16, 2019
SLC20A21Jan 16, 2019
SLC22A51Sep 27, 2018
SLC25A151Sep 27, 2018
SLC52A31Dec 24, 2018
SLX41Dec 24, 2018
SPAST2Dec 24, 2018
SPG71Dec 24, 2018
SPRED11Oct 18, 2021
SRD5A21Sep 27, 2018
STAT31Sep 27, 2018
STK111Jan 14, 2021
STRC4Aug 5, 2019
STUB11Jan 16, 2019
SYCE21Jan 16, 2019
SYNE12Jan 14, 2021
SYNJ11Dec 24, 2018
TARID1Nov 11, 2018
TBCK1Sep 27, 2018
TCHH1Jan 16, 2019
TCIRG14Jun 10, 2021
TERC1Apr 29, 2021
TGFB21Sep 27, 2018
TMC13Jan 16, 2019
TMEM1271Apr 29, 2021
TMPPE1Aug 22, 2018
TRPM11Dec 24, 2018
TRPS12Oct 7, 2020
TSC23Oct 18, 2021
TSPAN121Jul 18, 2019
TTBK21Jul 18, 2019
TUBB1Jun 10, 2021
TYR4Oct 18, 2021
USH2A3Aug 5, 2019
VCP1Dec 24, 2018
VPS13B2Aug 5, 2019
VRK11Dec 24, 2018
WFS13Oct 18, 2021
WT12Dec 24, 2018
ZDHHC241Nov 11, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 11Aug 22, 2018
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Sep 27, 2018
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2Oct 18, 2021
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Jun 10, 2021
Achromatopsia1Jan 16, 2019
Acute intermittent porphyria1Mar 27, 2020
Acute myeloid leukemia2Feb 3, 2021
Adams-Oliver syndrome 11Nov 11, 2018
Adrenoleukodystrophy17Jun 10, 2021
Alagille syndrome 11Jan 14, 2021
Alport syndrome 1, X-linked recessive5Jan 16, 2019
Alport syndrome, autosomal recessive3Nov 11, 2018
Alveolar capillary dysplasia with pulmonary venous misalignment1Oct 18, 2021
Alzheimer disease1Jul 18, 2019
Alzheimer disease, type 31Oct 7, 2020
Anterior segment dysgenesis 62Oct 18, 2021
Arteriohepatic dysplasia1Nov 11, 2018
Ataxia-telangiectasia-like disorder 11Jan 14, 2021
Autosomal dominant optic atrophy classic form1Apr 29, 2021
Autosomal dominant pseudohypoaldosteronism type 11Dec 24, 2018
Autosomal recessive distal renal tubular acidosis1Nov 11, 2018
Autosomal recessive osteopetrosis 14Jun 10, 2021
Autosomal recessive osteopetrosis 41Aug 8, 2018
Autosomal recessive polycystic kidney disease2Jul 18, 2019
Bardet-Biedl syndrome 11Nov 11, 2018
Bardet-Biedl syndrome 162Dec 24, 2018
Bardet-Biedl syndrome 71Aug 8, 2018
Bartter syndrome, type 1, antenatal1Dec 24, 2018
Biotinidase deficiency1Aug 5, 2019
Blepharocheilodontic syndrome 11Oct 18, 2021
Borjeson-Forssman-Lehmann syndrome1Dec 24, 2018
Brown-Vialetto-Van Laere syndrome 11Dec 24, 2018
CHARGE association1Jul 18, 2019
Capillary malformation-arteriovenous malformation 22Jun 10, 2021
Cataract 3, multiple types1Jan 14, 2021
Cataract 41Jun 10, 2021
Central core myopathy4Aug 5, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 12Jan 16, 2019
Charcot-Marie-Tooth disease, type 2A2A1Nov 11, 2018
Charcot-Marie-Tooth disease, type 4C1Mar 27, 2020
Cholestasis-pigmentary retinopathy-cleft palate syndrome1Oct 18, 2021
Chronic granulomatous disease, X-linked1Nov 11, 2018
Ciliary dyskinesia, primary, 142Jan 14, 2021
Citrullinemia type I1Nov 11, 2018
Cleidocranial dysostosis1Jan 14, 2021
Coffin-Lowry syndrome1Sep 27, 2018
Coffin-Siris syndrome 11Aug 8, 2018
Cohen syndrome2Aug 5, 2019
Combined oxidative phosphorylation deficiency 111Oct 7, 2020
Cone-rod dystrophy1Dec 24, 2018
Cone-rod dystrophy 122Jan 16, 2019
Cone-rod dystrophy 182Jun 10, 2021
Cone-rod dystrophy 31Jan 16, 2019
Congenital hyperammonemia, type I2Apr 29, 2021
Congenital myotonia, autosomal dominant form1Jan 16, 2019
Congenital sensory neuropathy with selective loss of small myelinated fibers1Jul 18, 2019
Congenital stationary night blindness, type 1C1Dec 24, 2018
Congenital stationary night blindness, type 1E1Nov 11, 2018
Cornelia de Lange syndrome 51Nov 11, 2018
Cortical dysplasia, complex, with other brain malformations 61Jun 10, 2021
Cowden syndrome1Dec 24, 2018
Cowden syndrome 12Jan 14, 2021
Deafness, autosomal dominant 101Nov 11, 2018
Deafness, autosomal dominant 131Jan 16, 2019
Deafness, autosomal dominant 361Jan 16, 2019
Deafness, autosomal recessive 122Nov 11, 2018
Deafness, autosomal recessive 164Aug 5, 2019
Deafness, autosomal recessive 18b2Jan 14, 2021
Deafness, autosomal recessive 221Dec 24, 2018
Deafness, autosomal recessive 36, with or without vestibular involvement1Nov 11, 2018
Deafness, autosomal recessive 72Sep 27, 2018
Deafness, autosomal recessive 841Aug 8, 2018
Deficiency of butyryl-CoA dehydrogenase1Nov 11, 2018
Dermatofibrosis lenticularis disseminata2Nov 11, 2018
Diamond-Blackfan anemia 11Jun 10, 2021
Diamond-Blackfan anemia 101Sep 27, 2018
Distal arthrogryposis type 5D1Aug 22, 2018
Distichiasis-lymphedema syndrome2Jan 14, 2021
Drash syndrome2Dec 24, 2018
Dyskeratosis congenita, autosomal dominant 12Apr 29, 2021
Dystonia 28, childhood-onset1Apr 29, 2021
Ehlers-Danlos syndrome, classic type1Aug 22, 2018
Ehlers-Danlos syndrome, type 42Jun 10, 2021
Elliptocytosis 11Jul 18, 2019
Epidermolysis bullosa junctionalis with pyloric atresia1Jan 16, 2019
Epidermolysis bullosa simplex1Nov 11, 2018
Epileptic encephalopathy, early infantile, 11Dec 24, 2018
Exudative vitreoretinopathy 41Jan 16, 2019
Exudative vitreoretinopathy 51Jul 18, 2019
FLNA related lung disease2Jan 16, 2019
Familial X-linked hypophosphatemic vitamin D refractory rickets2Dec 24, 2018
Familial cancer of breast1Jan 14, 2021
Familial hyperinsulinemia1Aug 22, 2018
Familial hypokalemia-hypomagnesemia2Jun 10, 2021
Familial multiple polyposis syndrome1Nov 11, 2018
Fanconi anemia, complementation group A16Aug 5, 2019
Fanconi anemia, complementation group D11Jan 16, 2019
Fanconi anemia, complementation group D22Jan 16, 2019
Fanconi anemia, complementation group G4Jan 16, 2019
Fanconi anemia, complementation group P1Dec 24, 2018
Focal segmental glomerulosclerosis 51Oct 7, 2020
Fraser syndrome 11Nov 11, 2018
Fructose-biphosphatase deficiency1Aug 22, 2018
Galactosylceramide beta-galactosidase deficiency1Jul 18, 2019
Gaucher disease type I1Nov 11, 2018
Generalized dominant dystrophic epidermolysis bullosa1Apr 29, 2021
Generalized epilepsy with febrile seizures plus, type 11Mar 27, 2020
Glanzmann thrombasthenia2Nov 11, 2018
Glomuvenous malformations1Mar 27, 2020
Glutaric aciduria, type 11Jan 16, 2019
Glycogen storage disease type III3Jul 18, 2019
Glycogen storage disease, type V1Dec 24, 2018
Gorlin syndrome1Sep 27, 2018
Gray platelet syndrome1Oct 18, 2021
Hearing loss, autosomal dominant 371Jun 10, 2021
Hearing loss, autosomal recessive 571Mar 27, 2020
Hereditary breast and ovarian cancer syndrome1Jan 14, 2021
Hereditary diffuse leukoencephalopathy with spheroids1Oct 18, 2021
Hereditary factor VIII deficiency disease1Jan 14, 2021
Hereditary nonpolyposis colorectal cancer type 51Oct 7, 2020
Hereditary renal cancer1Nov 11, 2018
Hereditary spastic paraplegia 3A2Nov 11, 2018
Hereditary spastic paraplegia 71Dec 24, 2018
Histiocytic medullary reticulosis1Jul 18, 2019
Hurler syndrome1Nov 11, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Sep 27, 2018
Hyper-IgM syndrome type 11Nov 11, 2018
Hyperammonemia, type III1Dec 24, 2018
Hyperinsulinemic hypoglycemia, familial, 11Nov 11, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Sep 27, 2018
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Jan 16, 2019
Hypogonadotropic hypogonadism 2 with or without anosmia1Apr 29, 2021
Hypohidrotic X-linked ectodermal dysplasia2Jul 18, 2019
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Sep 27, 2018
Hypoparathyroidism, deafness, renal disease syndrome1Apr 29, 2021
Hypophosphatasia3Oct 18, 2021
Hypotonia, ataxia, and delayed development syndrome1Oct 18, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Sep 27, 2018
Idiopathic Pulmonary Fibrosis2Mar 27, 2020
Idiopathic basal ganglia calcification 11Jan 16, 2019
Immunodeficiency, common variable, 122Dec 24, 2018
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Dec 24, 2018
Infantile GM1 gangliosidosis2Aug 22, 2018
Infantile hypophosphatasia2Jan 16, 2019
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Oct 18, 2021
Joubert syndrome 211Jul 18, 2019
Joubert syndrome 51Aug 8, 2018
Junctional epidermolysis bullosa gravis of Herlitz1Nov 11, 2018
Junctional epidermolysis bullosa, non-Herlitz type5Jul 18, 2019
Kabuki syndrome 11Sep 27, 2018
Knobloch syndrome 11Jan 16, 2019
Leber congenital amaurosis 131Dec 24, 2018
Leber congenital amaurosis 61Dec 24, 2018
Legius syndrome1Oct 18, 2021
Leukocyte adhesion deficiency 11Nov 11, 2018
Limb-girdle muscular dystrophy, type 2A1Aug 8, 2018
Lissencephaly 2, X-linked1Jan 14, 2021
Loeys-Dietz syndrome 41Sep 27, 2018
Long QT syndrome 21Oct 18, 2021
Lymphedema, primary, with myelodysplasia1Nov 11, 2018
Marfan syndrome3Oct 18, 2021
Marshall-Smith syndrome1Dec 24, 2018
Maturity-onset diabetes of the young, type 23Jul 18, 2019
McCune-Albright syndrome1Jan 16, 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Mar 22, 2019
Mental retardation, X-linked 11Nov 11, 2018
Mental retardation, autosomal dominant 311Dec 24, 2018
Merosin deficient congenital muscular dystrophy1Nov 11, 2018
Microcephalic osteodysplastic primordial dwarfism type II1Dec 24, 2018
Mucopolysaccharidosis type 62Jan 16, 2019
Mucopolysaccharidosis, MPS-IV-A2Jan 16, 2019
Multiple endocrine neoplasia, type 11Jan 16, 2019
Multiple epiphyseal dysplasia 11Nov 11, 2018
Multiple exostoses type 21Nov 11, 2018
Myoclonic dystonia 111Dec 24, 2018
Nail-patella syndrome1Jan 14, 2021
Nemaline myopathy 21Sep 27, 2018
Nephronophthisis 41Oct 18, 2021
Nephropathic cystinosis1Aug 22, 2018
Nephrotic syndrome, type 21Jul 18, 2019
Nephrotic syndrome, type 5, with or without ocular abnormalities1Nov 11, 2018
Neurofibromatosis, type 11Dec 24, 2018
Neutral lipid storage myopathy1Sep 27, 2018
Niemann-Pick disease type C11Jan 14, 2021
Nonsyndromic hearing loss and deafness1Jul 18, 2019
Noonan syndrome 101Jan 16, 2019
Nystagmus 6, congenital, X-linked1Aug 22, 2018
Ocular albinism, type I1Mar 27, 2020
Oculocutaneous albinism type 11Oct 18, 2021
Oculofaciocardiodental syndrome1Nov 11, 2018
Oligodontia-colorectal cancer syndrome1Apr 29, 2021
Ornithine carbamoyltransferase deficiency2Apr 29, 2021
Orofaciodigital syndrome I1Mar 27, 2020
Osteodysplastic primordial dwarfism, type 11Dec 24, 2018
Osteogenesis imperfecta type I1Jul 18, 2019
Osteogenesis imperfecta, recessive perinatal lethal1Apr 29, 2021
PTEN-related disorder2Dec 24, 2018
Paroxysmal nonkinesigenic dyskinesia 11Jul 18, 2019
Peroxisome biogenesis disorder 1A (Zellweger)1Sep 27, 2018
Perrault syndrome 41Nov 11, 2018
Peutz-Jeghers syndrome1Jan 14, 2021
Phenylketonuria3Jan 16, 2019
Pheochromocytoma1Apr 29, 2021
Polycystic kidney disease 35Jan 16, 2019
Polycystic kidney disease, adult type1Oct 18, 2021
Pontocerebellar hypoplasia, type 1b1Dec 24, 2018
Porencephaly 21Nov 11, 2018
Primary autosomal recessive microcephaly 91Nov 11, 2018
Protoporphyria, erythropoietic, 12Nov 11, 2018
Pseudopseudohypoparathyroidism1Jan 14, 2021
Pseudoxanthoma elasticum1Aug 8, 2018
Recessive dystrophic epidermolysis bullosa5Jan 16, 2019
Renal carnitine transport defect1Sep 27, 2018
Renal coloboma syndrome1Jan 16, 2019
Renal cysts and diabetes syndrome2Aug 5, 2019
Retinitis pigmentosa2Jul 18, 2019
Retinitis pigmentosa 131Dec 24, 2018
Retinitis pigmentosa 153Sep 27, 2018
Retinitis pigmentosa 191Nov 11, 2018
Retinitis pigmentosa 21Sep 27, 2018
Retinitis pigmentosa 252Aug 22, 2018
Retinitis pigmentosa 281Nov 11, 2018
Retinitis pigmentosa 391Sep 27, 2018
Retinitis pigmentosa 61Mar 27, 2020
See cases1Oct 18, 2021
Senior-Loken syndrome 72Dec 24, 2018
Severe X-linked myotubular myopathy1Sep 27, 2018
Short stature, optic nerve atrophy, and Pelger-Huet anomaly2Jan 16, 2019
Sotos syndrome 11Jan 16, 2019
Spastic paraplegia 4, autosomal dominant2Dec 24, 2018
Spinocerebellar ataxia type 111Jul 18, 2019
Spinocerebellar ataxia, autosomal recessive 161Jan 16, 2019
Spinocerebellar ataxia, autosomal recessive 82Jan 14, 2021
Spondylocarpotarsal synostosis syndrome1Mar 27, 2020
Stickler syndrome type 12Oct 18, 2021
Stickler syndrome type 23Nov 11, 2018
Stromme syndrome2Jan 16, 2019
Supravalvar aortic stenosis1Mar 27, 2020
Surfactant metabolism dysfunction, pulmonary, 22Apr 29, 2021
Symmetric circumferential skin creases, congenital, 11Jun 10, 2021
Telangiectasia, hereditary hemorrhagic, type 21Aug 8, 2018
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant3Oct 18, 2021
Trichorhinophalangeal dysplasia type I2Oct 7, 2020
Tuberous sclerosis 23Oct 18, 2021
Tyrosinase-negative oculocutaneous albinism3Sep 27, 2018
Tyrosinase-positive oculocutaneous albinism1Jan 16, 2019
Ullrich congenital muscular dystrophy 12Nov 11, 2018
Uncombable hair syndrome 31Jan 16, 2019
Usher syndrome type 12Sep 27, 2018
Usher syndrome type 1D3Aug 8, 2018
Usher syndrome, type 2A3Aug 5, 2019
Usher syndrome, type 2C1Nov 11, 2018
Variegate porphyria1Dec 24, 2018
Very long chain acyl-CoA dehydrogenase deficiency1Nov 11, 2018
Vitelliform macular dystrophy type 22Nov 11, 2018
Wilson disease1Nov 11, 2018
Wolfram syndrome 12Dec 24, 2018
Wolfram-like syndrome, autosomal dominant1Oct 18, 2021
Wolman disease1Sep 27, 2018
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