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HUSP Clinical Genetics Laboratory (Hospital Universitario San Pedro De Logroño (HUSP)), HSP_BDD

General information

HUSP Clinical Genetics Laboratory, HSP_BDD
Hospital Universitario San Pedro De Logroño (HUSP)
Calle Piqueras 98
Logroño
La Rioja
Spain - 26006

Organization ID: 506666

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 54

Gene

GeneSubmissionsLast Updated
ANKRD111May 29, 2024
ATL11May 29, 2024
ATM2Aug 20, 2018
BRCA11May 25, 2024
BRCA24May 25, 2024
C11orf651Aug 8, 2018
CACNA1G1Jul 21, 2023
CHRNG1May 29, 2024
CNKSR21May 5, 2023
COL4A11May 5, 2023
COL4A41May 29, 2024
COL4A51Apr 4, 2021
COL7A12Jul 21, 2023
CRTAP1May 29, 2024
DCX1Jul 21, 2023
DDX3X1Mar 9, 2021
DEPDC51May 30, 2024
DYM1May 11, 2021
DYRK1A1May 29, 2024
EHMT11May 29, 2024
EPHB41May 29, 2024
FANCA1May 29, 2024
FLNB1May 5, 2023
GJB11Jul 21, 2023
GLI31May 29, 2024
GNAS1May 1, 2021
GNB12May 29, 2024
HADHB1May 29, 2024
KAT6A1May 29, 2024
KCNC11Jul 21, 2023
KCNQ31Mar 4, 2021
KMT5B1Jul 21, 2023
LMNA1May 29, 2024
MTM11May 29, 2024
MYT1L1Jul 21, 2023
NAGLU1Jul 21, 2023
NHLRC11Mar 11, 2021
OPA11Feb 19, 2021
PKD11Apr 4, 2021
RYR11Mar 24, 2021
SERPING12Jul 21, 2023
SLC3A11May 29, 2024
SPTAN11Mar 17, 2021
TAPBPL1Jul 21, 2023
TCF121Jul 21, 2023
TSC11Mar 19, 2021
TSC21May 29, 2024
VAMP11Jul 21, 2023
WFS11Mar 24, 2021

Condition

NameSubmissionsLast Updated
Ataxia-telangiectasia syndrome2Aug 20, 2018
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1May 29, 2024
Autosomal dominant nonsyndromic hearing loss 61Mar 24, 2021
Autosomal dominant optic atrophy classic form1Feb 19, 2021
Autosomal recessive Alport syndrome1May 29, 2024
Autosomal recessive multiple pterygium syndrome1May 29, 2024
Brain small vessel disease 1 with or without ocular anomalies1May 5, 2023
Breast-ovarian cancer, familial, susceptibility to, 11May 25, 2024
Breast-ovarian cancer, familial, susceptibility to, 23May 25, 2024
Capillary malformation-arteriovenous malformation 21May 29, 2024
Charcot-Marie-Tooth disease X-linked dominant 11Jul 21, 2023
Charcot-Marie-Tooth disease axonal type 2V1Jul 21, 2023
Cystinuria1May 29, 2024
DYRK1A-related intellectual disability syndrome1May 29, 2024
Developmental and epileptic encephalopathy, 51Mar 17, 2021
Dyggve-Melchior-Clausen syndrome1May 11, 2021
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1May 29, 2024
Epilepsy, familial focal, with variable foci 11May 30, 2024
Fanconi anemia complementation group A1May 29, 2024
Greig cephalopolysyndactyly syndrome1May 29, 2024
Hereditary angioedema type 12Jul 21, 2023
Hereditary spastic paraplegia 3A1May 29, 2024
Intellectual disability, X-linked 1021Mar 9, 2021
Intellectual disability, X-linked, syndromic, Houge type1May 5, 2023
Intellectual disability, autosomal dominant 391Jul 21, 2023
Intellectual disability, autosomal dominant 422May 29, 2024
Intellectual disability, autosomal dominant 511Jul 21, 2023
KBG syndrome1May 29, 2024
Kleefstra syndrome 11May 29, 2024
Lafora disease1Mar 11, 2021
Lissencephaly type 1 due to doublecortin gene mutation1Jul 21, 2023
Malignant hyperthermia, susceptibility to, 11Mar 24, 2021
Mitochondrial trifunctional protein deficiency 21May 29, 2024
Osteogenesis imperfecta type 71May 29, 2024
Pancreatic cancer, susceptibility to, 21May 25, 2024
Polycystic kidney disease, adult type1Apr 4, 2021
Progressive myoclonic epilepsy type 71Jul 21, 2023
Pseudohypoparathyroidism type 1C1May 1, 2021
Pseudohypoparathyroidism type I A1May 1, 2021
Recessive dystrophic epidermolysis bullosa2Jul 21, 2023
Seizures, benign familial neonatal, 21Mar 4, 2021
Severe X-linked myotubular myopathy1May 29, 2024
Spastic ataxia 11Jul 21, 2023
Spinocerebellar ataxia type 421Jul 21, 2023
Spondylocarpotarsal synostosis syndrome1May 5, 2023
TCF12-related craniosynostosis1Jul 21, 2023
Tuberous sclerosis 11Mar 19, 2021
Tuberous sclerosis 21May 29, 2024
X-linked Alport syndrome1Apr 4, 2021