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Counsyl

General information

Counsyl

180 Kimball Way
South San Francisco
California
United States - 94080
http://www.counsyl.com/
Organization ID: 320494

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 20732

Gene

GeneSubmissionsLast Updated
ABCC8168Aug 5, 2019
ABCD12Aug 5, 2019
ACADM96Aug 5, 2019
ACADS71Aug 5, 2019
ACADVL183Aug 5, 2019
ADA46Aug 5, 2019
ADAMTS26Jul 10, 2018
AGA33Aug 5, 2019
AGA-DT7Jul 10, 2018
AGL127Aug 5, 2019
AGXT58Jul 10, 2018
AIRE66Aug 5, 2019
ALDH3A255Aug 5, 2019
ALDOB38Jul 10, 2018
ALG637Jul 10, 2018
ALMS1688Aug 5, 2019
ALPL94Aug 5, 2019
AMT45Aug 5, 2019
AOPEP59Aug 5, 2019
APBB12Aug 5, 2019
APC309Jun 20, 2018
ARFRP12Jul 10, 2018
ARG132Aug 5, 2019
ARSA94Aug 5, 2019
ASL59Jul 10, 2018
ASNS1Nov 23, 2016
ASPA51Aug 5, 2019
ASS167Aug 5, 2019
ATM482Jul 10, 2018
ATP6V1B116Jul 10, 2018
ATP6V1B1-AS11Jul 10, 2018
ATP7B266Aug 5, 2019
AXDND122Aug 5, 2019
BARD160Jun 20, 2018
BBS158Aug 5, 2019
BBS1083Aug 5, 2019
BBS1255Aug 5, 2019
BBS261Aug 5, 2019
BCHE57Jul 10, 2018
BCKDHA40Aug 5, 2019
BCKDHB61Aug 5, 2019
BCS1L44Aug 5, 2019
BLM125Aug 5, 2019
BMPR1A36Jun 20, 2018
BRCA1583Jun 20, 2018
BRCA2927Jun 20, 2018
BRIP1275Jun 20, 2018
BTD117Aug 5, 2019
C11orf65177Jul 10, 2018
CAPN3170Aug 5, 2019
CBS86Aug 5, 2019
CDH1146Jun 20, 2018
CDK414Jun 20, 2018
CDKL511Aug 5, 2019
CDKN2A56Jun 20, 2018
CERKL3Jul 10, 2018
CFTR464Aug 5, 2019
CFTR-AS136Aug 5, 2019
CHEK2165Jun 20, 2018
CHM2Nov 23, 2016
CHPT14Jul 10, 2018
CLN340Aug 5, 2019
CLN542Aug 5, 2019
CLN635Aug 5, 2019
CLN827Aug 5, 2019
CLN8-AS11Jul 10, 2018
CLRN132Jul 10, 2018
CLRN1-AS14Jul 10, 2018
CNGB342Jul 10, 2018
COL4A391Aug 5, 2019
COL4A4104Aug 5, 2019
COL4A53Aug 5, 2019
CPS182Jul 10, 2018
CPT1A39Aug 5, 2019
CPT2107Aug 5, 2019
CTNS58Aug 5, 2019
CTNS-AS125Jul 10, 2018
CTSK36Jul 10, 2018
CYBA1Jul 10, 2018
CYP11B153Aug 5, 2019
CYP21A28Mar 11, 2015
CYP27A157Aug 5, 2019
CZ1P-ASNS1Nov 23, 2016
DBT34Aug 5, 2019
DHCR7101Aug 5, 2019
DLD25Aug 5, 2019
DLG418Jul 10, 2018
DMD15Aug 5, 2019
DNAH548Jul 10, 2018
DNAI115Jul 10, 2018
DNAI27Jul 10, 2018
DPYD79Jul 10, 2018
DPYD-AS119Jul 10, 2018
DVL22Jul 10, 2018
DYSF177Aug 5, 2019
ELP172Aug 5, 2019
EPCAM2Jun 20, 2018
ERCC686Aug 5, 2019
ERCC6-PGBD330Aug 5, 2019
ERCC836Aug 5, 2019
ERCC8-AS14Aug 5, 2019
EVC79Aug 5, 2019
EVC273Aug 5, 2019
EYS53Jul 10, 2018
F1194Jul 10, 2018
F11-AS118Jul 10, 2018
F21Jun 22, 2017
FAH52Aug 5, 2019
FAM161A7Jul 10, 2018
FANCA192Aug 5, 2019
FANCC80Aug 5, 2019
FBXL327Aug 5, 2019
FKRP63Aug 5, 2019
FKTN33Aug 5, 2019
FKTN-AS11Jul 10, 2018
FNDC81Nov 23, 2016
G6PC145Aug 5, 2019
G6PD5Jun 22, 2017
GAA196Aug 5, 2019
GALC124Aug 5, 2019
GALE1Nov 23, 2016
GALK135Jul 10, 2018
GALT96Aug 5, 2019
GAREM240Aug 5, 2019
GATAD145Aug 5, 2019
GBA11Nov 23, 2016
GBE19Jul 10, 2018
GCDH99Aug 5, 2019
GFM23Jul 30, 2018
GJB11Mar 11, 2015
GJB2137Aug 5, 2019
GJB61Nov 23, 2016
GLA3Aug 5, 2019
GLB1103Aug 5, 2019
GLDC98Aug 5, 2019
GML9Aug 5, 2019
GNE84Aug 5, 2019
GNPTAB62Aug 5, 2019
GNPTG45Aug 5, 2019
GRHPR51Aug 5, 2019
HACL14Jul 10, 2018
HADHA69Aug 5, 2019
HBA12Jun 22, 2017
HBB41Aug 5, 2019
HEXA142Aug 5, 2019
HEXA-AS11Jul 10, 2018
HEXB60Aug 5, 2019
HGD46Jul 10, 2018
HGSNAT40Aug 5, 2019
HLCS34Aug 5, 2019
HMGCL31Aug 5, 2019
HOGA127Jul 10, 2018
HPS33Jul 10, 2018
HSD17B461Aug 5, 2019
HYLS110Jul 10, 2018
IDS1Aug 5, 2019
IDUA150Aug 5, 2019
IL2RG1Aug 5, 2019
INSRR2Jul 10, 2018
ITGB44Jul 10, 2018
IVD46Aug 5, 2019
KCNJ1135Aug 5, 2019
KIRREL26Jul 10, 2018
KLLN5Jun 20, 2018
LAMA2177Aug 5, 2019
LAMA3140Aug 5, 2019
LAMB376Aug 5, 2019
LAMC258Jul 10, 2018
LIPA29Jul 10, 2018
LOC1053783114Jul 10, 2018
LOC10609906230Aug 5, 2019
LOC1066279811Nov 23, 2016
LOC10679983338Aug 5, 2019
LOC10713351041Aug 5, 2019
LOC10730334016Jun 20, 2018
LOC1073033436Jul 10, 2018
LOC1074575851Jul 10, 2018
LOC1078821261Jul 10, 2018
LOC11000631912Aug 5, 2019
LOC1101214712Jul 10, 2018
LOC1101215022Nov 23, 2016
LOC1106739722Jul 10, 2018
LOC1115892159Jun 20, 2018
LOC11167446311Jul 10, 2018
LOC11167447244Aug 5, 2019
LOC11167447516Aug 5, 2019
LOC11167447715Aug 5, 2019
LOC1124862236Aug 5, 2019
LOC1136641066Aug 5, 2019
LOC1171255942Jul 10, 2018
LOC1221522967Jul 10, 2018
LOC1238640651Jul 10, 2018
LOC12395621014Aug 5, 2019
LOXHD141Jul 10, 2018
LRPPRC67Jul 10, 2018
MAN2B172Jul 10, 2018
MCOLN128Aug 5, 2019
MCS+9.72Nov 23, 2016
MED2331Aug 5, 2019
MEFV10Aug 5, 2019
MEN119Jun 20, 2018
MESP234Jul 10, 2018
MFF-DT88Aug 5, 2019
MIR3936HG4Jul 10, 2018
MIR42601Nov 23, 2016
MKS158Aug 5, 2019
MLC143Jul 10, 2018
MLH1163Jun 20, 2018
MMAA31Aug 5, 2019
MMAB26Aug 5, 2019
MMACHC74Aug 5, 2019
MMUT94Aug 5, 2019
MPI32Aug 5, 2019
MPL14Jul 10, 2018
MPZ1Jun 20, 2018
MRE1127Jun 20, 2018
MSH2213Jun 20, 2018
MSH6283Jun 20, 2018
MTTP3Jul 10, 2018
MUTYH131Jul 10, 2018
MVK4Jul 10, 2018
MYO7A252Aug 5, 2019
NAGLU89Aug 5, 2019
NBN115Jul 10, 2018
NDUFAF24Jul 10, 2018
NDUFS41Jul 10, 2018
NEB351Aug 5, 2019
NICN16Jul 10, 2018
NPC1161Aug 5, 2019
NPC213Aug 5, 2019
NPHS1112Aug 5, 2019
NPHS260Aug 5, 2019
NR2E332Jul 10, 2018
NTRK17Jul 10, 2018
OAT3Jul 10, 2018
OPA335Jul 30, 2018
OSGIN23Jul 10, 2018
OTC1Nov 23, 2016
PAH230Aug 5, 2019
PALB2239Jun 20, 2018
PC23Aug 5, 2019
PCCA51Aug 5, 2019
PCCB73Aug 5, 2019
PCDH15272Jul 30, 2018
PEX1165Aug 5, 2019
PEX1045Aug 5, 2019
PEX1249Aug 5, 2019
PEX217Aug 5, 2019
PEX652Aug 5, 2019
PEX742Aug 5, 2019
PFKM2Jul 10, 2018
PGBD37Jul 10, 2018
PHF313Jul 10, 2018
PHGDH2Jul 10, 2018
PHYH6Jul 10, 2018
PKHD1303Aug 5, 2019
PLCH24Aug 5, 2019
PMM265Aug 5, 2019
PMS2137Jun 20, 2018
POLD199Jun 20, 2018
POLE151Jun 20, 2018
POMGNT191Aug 5, 2019
POMT11Aug 5, 2019
PPT147Aug 5, 2019
PROP129Jul 10, 2018
PTEN54Jun 20, 2018
PTS41Aug 5, 2019
PUS310Jul 10, 2018
PYGM71Jul 10, 2018
RAD5043Jun 20, 2018
RAD51C97Jun 20, 2018
RAD51D73Jun 20, 2018
RAD51L3-RFFL73Jun 20, 2018
RAG23Jul 10, 2018
RAPSN3Jul 10, 2018
RET215Jun 20, 2018
RIF1139Aug 5, 2019
RMRP126Aug 5, 2019
RPE6515Jul 10, 2018
RPL36A-HNRNPH23Aug 5, 2019
RS111Aug 5, 2019
RTEL197Aug 5, 2019
RTEL1-TNFRSF6B97Aug 5, 2019
SACS276Aug 5, 2019
SAMD99Jul 10, 2018
SCO26Jul 10, 2018
SDHA59Jun 20, 2018
SDHB14Jun 20, 2018
SDHC9Jun 20, 2018
SERPINA127Jul 10, 2018
SGCA49Aug 5, 2019
SGCB30Aug 5, 2019
SGCD43Jul 10, 2018
SGCG21Aug 5, 2019
SGSH62Aug 5, 2019
SLC12A642Jul 10, 2018
SLC17A546Aug 5, 2019
SLC22A589Aug 5, 2019
SLC26A151Jul 30, 2018
SLC26A113Aug 5, 2019
SLC26A2133Aug 5, 2019
SLC26A4200Aug 5, 2019
SLC26A4-AS116Aug 5, 2019
SLC37A4344Aug 5, 2019
SMAD433Jun 20, 2018
SMN11Jun 20, 2017
SMPD1113Aug 5, 2019
SPATA2251Aug 5, 2019
STAR28Jul 10, 2018
STK11118Jun 20, 2018
SUMF15Jul 10, 2018
SYCE210Jul 10, 2018
TAT22Aug 5, 2019
TAT-AS113Jul 10, 2018
TCIRG168Aug 5, 2019
TECPR24Jul 10, 2018
TEX121Jul 10, 2018
TGM176Aug 5, 2019
TH60Aug 5, 2019
TH2-LCR1Jun 22, 2017
TH2LCRR4Jun 20, 2018
TMEM21626Jul 10, 2018
TMEM431Jul 10, 2018
TMPPE1Jul 10, 2018
TNFRSF6B21Jul 10, 2018
TOE13Jul 10, 2018
TP53100Jun 20, 2018
TPP153Aug 5, 2019
TRMU5Jul 10, 2018
TRPV11Mar 11, 2015
TSPAN184Aug 5, 2019
TSPAN314Jun 20, 2018
TTPA21Jul 10, 2018
TYMP8Jul 10, 2018
USH1C113Aug 5, 2019
USH2A504Aug 5, 2019
USH2A-AS139Aug 5, 2019
USH2A-AS225Aug 5, 2019
VHL42Jun 20, 2018
VPS13A5Jul 10, 2018
VPS13B293Aug 5, 2019
VPS533Jul 10, 2018
VRK11Jul 10, 2018
VSX21Jul 10, 2018
XPA60Jul 10, 2018
XPC86Aug 5, 2019
ZDHHC2434Aug 5, 2019
ZFYVE2662Aug 5, 2019
ZMYND111Nov 23, 2016
ZNF27635Jul 10, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 335Jul 30, 2018
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency41Aug 5, 2019
ALG6-congenital disorder of glycosylation 1C37Jul 10, 2018
Abetalipoproteinaemia3Jul 10, 2018
Achondrogenesis, type IB23Nov 23, 2016
Achromatopsia 342Jul 10, 2018
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins5Jul 10, 2018
Adrenoleukodystrophy2Aug 5, 2019
Agenesis of the corpus callosum with peripheral neuropathy42Jul 10, 2018
Alkaptonuria46Jul 10, 2018
Alpha-1-antitrypsin deficiency27Jul 10, 2018
Alstrom syndrome688Aug 5, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency5Jun 22, 2017
Angiokeratoma corporis diffusum3Aug 5, 2019
Arginase deficiency32Aug 5, 2019
Argininosuccinate lyase deficiency59Jul 10, 2018
Aspartylglucosaminuria33Aug 5, 2019
Ataxia-telangiectasia syndrome482Jul 10, 2018
Ataxia-telangiectasia-like disorder 127Jun 20, 2018
Atelosteogenesis type II25Aug 5, 2019
Autosomal dominant nonsyndromic hearing loss 3A25Nov 23, 2016
Autosomal recessive Alport syndrome195Aug 5, 2019
Autosomal recessive DOPA responsive dystonia60Aug 5, 2019
Autosomal recessive congenital ichthyosis 176Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2A170Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2B177Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2C21Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D49Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E30Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2F43Jul 10, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2I63Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2O5Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 18A110Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 1A112Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 2243Aug 5, 2019
Autosomal recessive nonsyndromic hearing loss 7741Jul 10, 2018
Autosomal recessive osteopetrosis 168Aug 5, 2019
Autosomal recessive polycystic kidney disease303Aug 5, 2019
Bardet-Biedl syndrome5Mar 11, 2015
Bardet-Biedl syndrome 153Aug 5, 2019
Bardet-Biedl syndrome 1083Aug 5, 2019
Bardet-Biedl syndrome 1255Aug 5, 2019
Bardet-Biedl syndrome 1349Aug 5, 2019
Bardet-Biedl syndrome 261Aug 5, 2019
Becker muscular dystrophy5Aug 5, 2019
Bifunctional peroxisomal enzyme deficiency61Aug 5, 2019
Biotinidase deficiency117Aug 5, 2019
Bloom syndrome125Aug 5, 2019
Breast-ovarian cancer, familial, susceptibility to, 1583Jun 20, 2018
Breast-ovarian cancer, familial, susceptibility to, 2927Jun 20, 2018
Breast-ovarian cancer, familial, susceptibility to, 364Jun 20, 2018
Breast-ovarian cancer, familial, susceptibility to, 473Jun 20, 2018
Carnitine palmitoyl transferase 1A deficiency39Aug 5, 2019
Carnitine palmitoyl transferase II deficiency, myopathic form18Nov 23, 2016
Carnitine palmitoyl transferase II deficiency, neonatal form18Nov 23, 2016
Carnitine palmitoyl transferase II deficiency, severe infantile form71Aug 5, 2019
Cerebrooculofacioskeletal syndrome 179Jul 10, 2018
Ceroid lipofuscinosis, neuronal, 6A35Aug 5, 2019
Charlevoix-Saguenay spastic ataxia275Aug 5, 2019
Cholestanol storage disease57Aug 5, 2019
Chorea-acanthocytosis5Jul 10, 2018
Choroideremia2Nov 23, 2016
Citrullinemia type I67Aug 5, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8Mar 11, 2015
Classic homocystinuria86Aug 5, 2019
Cobalamin C disease74Aug 5, 2019
Cockayne syndrome type 136Aug 5, 2019
Cockayne syndrome type 279Jul 10, 2018
Cohen syndrome293Aug 5, 2019
Colorectal cancer, hereditary nonpolyposis, type 2162Jun 20, 2018
Colorectal cancer, susceptibility to, 1099Jun 20, 2018
Colorectal cancer, susceptibility to, 12151Jun 20, 2018
Combined immunodeficiency with skin granulomas3Jul 10, 2018
Congenital amegakaryocytic thrombocytopenia14Jul 10, 2018
Congenital hyperammonemia, type I82Jul 10, 2018
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type67Jul 10, 2018
Congenital lipoid adrenal hyperplasia due to STAR deficency28Jul 10, 2018
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Nov 23, 2016
Congenital myasthenic syndrome 113Jul 10, 2018
Cowden syndrome 154Jun 20, 2018
Cystic fibrosis464Aug 5, 2019
DE SANCTIS-CACCHIONE SYNDROME86Aug 5, 2019
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase96Aug 5, 2019
Deficiency of alpha-mannosidase72Jul 10, 2018
Deficiency of butyryl-CoA dehydrogenase71Aug 5, 2019
Deficiency of butyrylcholinesterase57Jul 10, 2018
Deficiency of galactokinase35Jul 10, 2018
Deficiency of hydroxymethylglutaryl-CoA lyase31Aug 5, 2019
Deficiency of steroid 11-beta-monooxygenase53Aug 5, 2019
Diabetes mellitus, transient neonatal, 335Aug 5, 2019
Diastrophic dysplasia23Nov 23, 2016
Dihydropyrimidine dehydrogenase deficiency79Jul 10, 2018
Dilated cardiomyopathy 1L43Jul 10, 2018
Dilated cardiomyopathy 3B5Aug 5, 2019
Duchenne muscular dystrophy5Aug 5, 2019
Dyskeratosis congenita, autosomal recessive 597Aug 5, 2019
Ehlers-Danlos syndrome, dermatosparaxis type6Jul 10, 2018
Ellis-van Creveld syndrome152Aug 5, 2019
Enhanced S-cone syndrome32Jul 10, 2018
Familial Mediterranean fever10Aug 5, 2019
Familial adenomatous polyposis 1309Jun 20, 2018
Familial adenomatous polyposis 2131Jul 10, 2018
Familial cancer of breast464Jun 20, 2018
Familial dysautonomia72Aug 5, 2019
Familial isolated deficiency of vitamin E21Jul 10, 2018
Fanconi anemia complementation group A192Aug 5, 2019
Fanconi anemia complementation group C80Aug 5, 2019
Fanconi anemia complementation group J190Jun 20, 2018
Fanconi anemia complementation group O64Jun 20, 2018
Fetal akinesia deformation sequence 13Jul 10, 2018
Finnish congenital nephrotic syndrome112Aug 5, 2019
GM1 gangliosidosis type 287Aug 5, 2019
GM1 gangliosidosis type 387Aug 5, 2019
GNE myopathy84Aug 5, 2019
GRACILE syndrome41Jul 10, 2018
Galactosylceramide beta-galactosidase deficiency124Aug 5, 2019
Gaucher disease type I1Nov 23, 2016
Generalized juvenile polyposis/juvenile polyposis coli69Jun 20, 2018
Glucose-6-phosphate transport defect344Aug 5, 2019
Glutaric aciduria, type 199Aug 5, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA45Aug 5, 2019
Glycogen storage disease type III127Aug 5, 2019
Glycogen storage disease, type II196Aug 5, 2019
Glycogen storage disease, type IV9Jul 10, 2018
Glycogen storage disease, type V71Jul 10, 2018
Glycogen storage disease, type VII2Jul 10, 2018
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Jul 10, 2018
Heimler syndrome 12Aug 5, 2019
Hereditary diffuse gastric adenocarcinoma146Jun 20, 2018
Hereditary factor XI deficiency disease94Jul 10, 2018
Hereditary fructosuria38Jul 10, 2018
Hereditary insensitivity to pain with anhidrosis7Jul 10, 2018
Hereditary spastic paraplegia 1562Aug 5, 2019
Hereditary spastic paraplegia 494Jul 10, 2018
Hermansky-Pudlak syndrome 33Jul 10, 2018
Hidrotic ectodermal dysplasia syndrome1Nov 23, 2016
Histiocytic medullary reticulosis3Jul 10, 2018
Holocarboxylase synthetase deficiency34Aug 5, 2019
Hurler syndrome150Aug 5, 2019
Hydrolethalus syndrome 110Jul 10, 2018
Hyperinsulinemic hypoglycemia, familial, 1168Aug 5, 2019
Infantile GM1 gangliosidosis87Aug 5, 2019
Infantile hypophosphatasia94Aug 5, 2019
Isovaleryl-CoA dehydrogenase deficiency46Aug 5, 2019
Joubert syndrome 220Jul 10, 2018
Joubert syndrome 2850Aug 5, 2019
Junctional epidermolysis bullosa gravis of Herlitz273Aug 5, 2019
Junctional epidermolysis bullosa, non-Herlitz type1Aug 5, 2019
Juvenile retinoschisis11Aug 5, 2019
Kartagener syndrome15Jul 10, 2018
Kugelberg-Welander disease1Jun 20, 2017
Leber congenital amaurosis 215Jul 10, 2018
Leigh syndrome1Jul 10, 2018
Li-Fraumeni syndrome 1100Jun 20, 2018
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency69Aug 5, 2019
Lynch syndrome 1214Jun 20, 2018
Lynch syndrome 4137Jun 20, 2018
Lynch syndrome 5283Jun 20, 2018
Lynch syndrome 82Jun 20, 2018
Lysosomal acid lipase deficiency29Jul 10, 2018
MPI-congenital disorder of glycosylation32Aug 5, 2019
Maple syrup urine disease135Aug 5, 2019
Meckel syndrome, type 149Aug 5, 2019
Meckel syndrome, type 221Jul 10, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency96Aug 5, 2019
Megalencephalic leukoencephalopathy with subcortical cysts 143Jul 10, 2018
Melanoma, cutaneous malignant, susceptibility to, 314Jun 20, 2018
Melanoma-pancreatic cancer syndrome56Jun 20, 2018
Merosin deficient congenital muscular dystrophy177Aug 5, 2019
Metachromatic leukodystrophy94Aug 5, 2019
Metaphyseal chondrodysplasia, McKusick type126Aug 5, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency94Aug 5, 2019
Methylmalonic aciduria, cblA type31Aug 5, 2019
Methylmalonic aciduria, cblB type26Aug 5, 2019
Microcephaly, normal intelligence and immunodeficiency115Jul 10, 2018
Microphthalmia, isolated, with coloboma 31Jul 10, 2018
Mitochondrial DNA depletion syndrome 18Jul 10, 2018
Mitochondrial complex I deficiency1Jul 10, 2018
Mitochondrial complex III deficiency nuclear type 13Aug 5, 2019
Mucolipidosis type II59Aug 5, 2019
Mucolipidosis type III gamma45Aug 5, 2019
Mucolipidosis type IV28Aug 5, 2019
Mucopolysaccharidosis, MPS-II1Aug 5, 2019
Mucopolysaccharidosis, MPS-III-A62Aug 5, 2019
Mucopolysaccharidosis, MPS-III-B89Aug 5, 2019
Mucopolysaccharidosis, MPS-III-C40Aug 5, 2019
Mucopolysaccharidosis, MPS-IV-B94Aug 5, 2019
Multiple endocrine neoplasia, type 119Jun 20, 2018
Multiple endocrine neoplasia, type 2a144Jun 20, 2018
Multiple endocrine neoplasia, type 2b71Nov 23, 2016
Multiple epiphyseal dysplasia type 462Jul 10, 2018
Multiple sulfatase deficiency5Jul 10, 2018
Muscle eye brain disease74Aug 5, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 433Aug 5, 2019
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B35Aug 5, 2019
Nemaline myopathy 2351Aug 5, 2019
Neoplasm of ovary190Jun 20, 2018
Nephropathic cystinosis58Aug 5, 2019
Nephrotic syndrome, type 260Aug 5, 2019
Nesidioblastosis34Jul 10, 2018
Neu-Laxova syndrome 12Jul 10, 2018
Neuronal ceroid lipofuscinosis 147Aug 5, 2019
Neuronal ceroid lipofuscinosis 253Aug 5, 2019
Neuronal ceroid lipofuscinosis 340Aug 5, 2019
Neuronal ceroid lipofuscinosis 542Aug 5, 2019
Neuronal ceroid lipofuscinosis 827Aug 5, 2019
Niemann-Pick disease, type A102Aug 5, 2019
Niemann-Pick disease, type B11Aug 5, 2019
Niemann-Pick disease, type C1161Aug 5, 2019
Niemann-Pick disease, type C213Aug 5, 2019
Nijmegen breakage syndrome-like disorder43Jun 20, 2018
Non-ketotic hyperglycinemia143Aug 5, 2019
Normophosphatemic familial tumoral calcinosis9Jul 10, 2018
Ornithine aminotransferase deficiency3Jul 10, 2018
Ornithine carbamoyltransferase deficiency1Nov 23, 2016
PHGDH deficiency2Jul 10, 2018
PMM2-congenital disorder of glycosylation65Aug 5, 2019
Paragangliomas 39Jun 20, 2018
Paragangliomas 414Jun 20, 2018
Paragangliomas 560Jun 20, 2018
Pendred syndrome200Aug 5, 2019
Permanent neonatal diabetes mellitus34Jul 10, 2018
Peroxisome biogenesis disorder 1A (Zellweger)119Aug 5, 2019
Peroxisome biogenesis disorder 1B44Aug 5, 2019
Peroxisome biogenesis disorder 3A (Zellweger)47Aug 5, 2019
Peroxisome biogenesis disorder 4A (Zellweger)48Jul 10, 2018
Peroxisome biogenesis disorder 4B51Aug 5, 2019
Peroxisome biogenesis disorder 5A (Zellweger)14Jul 10, 2018
Peroxisome biogenesis disorder 5B15Aug 5, 2019
Peroxisome biogenesis disorder 6A (Zellweger)40Aug 5, 2019
Peroxisome biogenesis disorder 6B42Aug 5, 2019
Peroxisome biogenesis disorder type 3B46Jul 10, 2018
Peutz-Jeghers syndrome118Jun 20, 2018
Phenylketonuria230Aug 5, 2019
Phytanic acid storage disease6Jul 10, 2018
Pituitary hormone deficiency, combined, 229Jul 10, 2018
Polyglandular autoimmune syndrome, type 166Aug 5, 2019
Pontocerebellar hypoplasia type 1A1Jul 10, 2018
Pontocerebellar hypoplasia type 2E3Jul 10, 2018
Primary ciliary dyskinesia 348Jul 10, 2018
Primary ciliary dyskinesia 97Jul 10, 2018
Primary hyperoxaluria type 327Jul 10, 2018
Primary hyperoxaluria, type I58Jul 10, 2018
Primary hyperoxaluria, type II51Aug 5, 2019
Propionic acidemia124Aug 5, 2019
Pseudo-Hurler polydystrophy61Aug 5, 2019
Pyknodysostosis36Jul 10, 2018
Pyruvate carboxylase deficiency23Aug 5, 2019
Pyruvate dehydrogenase E3 deficiency25Aug 5, 2019
Renal carnitine transport defect89Aug 5, 2019
Renal tubular acidosis with progressive nerve deafness16Jul 10, 2018
Retinitis pigmentosa 2015Jul 10, 2018
Retinitis pigmentosa 2553Jul 10, 2018
Retinitis pigmentosa 263Jul 10, 2018
Retinitis pigmentosa 287Jul 10, 2018
Retinitis pigmentosa 3732Jul 10, 2018
Retinitis pigmentosa 39487Aug 5, 2019
Retinitis pigmentosa 767Aug 5, 2019
Rhizomelic chondrodysplasia punctata type 142Aug 5, 2019
Salla disease46Aug 5, 2019
Sandhoff disease60Aug 5, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency46Aug 5, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3Jul 10, 2018
Sjögren-Larsson syndrome55Aug 5, 2019
Smith-Lemli-Opitz syndrome101Aug 5, 2019
Spinal muscular atrophy, type II1Jun 20, 2017
Spinal muscular atrophy, type IV1Jun 20, 2017
Spondylocostal dysostosis 2, autosomal recessive34Jul 10, 2018
Spongy degeneration of central nervous system51Aug 5, 2019
Tay-Sachs disease142Aug 5, 2019
Thrombophilia due to thrombin defect1Jun 22, 2017
Tyrosinemia type I52Aug 5, 2019
Tyrosinemia type II22Aug 5, 2019
UDPglucose-4-epimerase deficiency1Nov 23, 2016
Usher syndrome type 1234Aug 5, 2019
Usher syndrome type 1C107Aug 5, 2019
Usher syndrome type 1F272Jul 30, 2018
Usher syndrome type 2A461Aug 5, 2019
Usher syndrome type 332Jul 10, 2018
Very long chain acyl-CoA dehydrogenase deficiency183Aug 5, 2019
Von Hippel-Lindau syndrome42Jun 20, 2018
Werdnig-Hoffmann disease1Jun 20, 2017
Wilson disease266Aug 5, 2019
X-linked Alport syndrome3Aug 5, 2019
X-linked severe combined immunodeficiency1Aug 5, 2019
Xeroderma pigmentosum group A60Jul 10, 2018
Xeroderma pigmentosum, group C86Aug 5, 2019
alpha Thalassemia3Aug 18, 2017
beta Thalassemia41Aug 5, 2019