Center for Genomic Medicine (King Faisal Specialist Hospital and Research Center)

General information

Center for Genomic Medicine
King Faisal Specialist Hospital and Research Center
Takhasussi Street
Riyadh
Ar Riyad
Saudi Arabia - 11211

Organization ID: 508075

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 185

Gene

GeneSubmissionsLast Updated
ADAMTSL41Jul 7, 2021
ADAMTSL4-AS21Jul 7, 2021
AGRN1Jul 7, 2021
AHI11Jul 7, 2021
ARHGDIA1Jul 7, 2021
BLM1Jul 7, 2021
CD1511Jul 7, 2021
CENPF1Jul 7, 2021
CFI1Jul 7, 2021
CHRNA11Jul 7, 2021
CILK11Jul 7, 2021
CLDN101Jul 7, 2021
COL4A51Jul 7, 2021
DCHS11Jul 7, 2021
DIS3L21Jul 7, 2021
DLD1Jul 7, 2021
DYNC2H12Jul 7, 2021
F1010May 13, 2021
F10-AS15May 13, 2021
F111May 13, 2021
F13A17May 13, 2021
F13B7May 13, 2021
F28May 13, 2021
F511May 13, 2021
F79May 13, 2021
F821Jul 7, 2021
F91May 13, 2021
FGA12May 13, 2021
FGG4May 13, 2021
G6PD5May 13, 2021
GATA31Jul 7, 2021
HBA26May 13, 2021
HBB1May 13, 2021
HSPG21Jul 7, 2021
KLHL31Jul 7, 2021
LOC1068046126May 13, 2021
LOC1071335101May 13, 2021
LOC1073033401Jul 7, 2021
LOC1079822341Jul 7, 2021
LOC1100063191May 13, 2021
MYH31Jul 7, 2021
NEB1Jul 7, 2021
NEK81Jul 7, 2021
NOTCH21Jul 7, 2021
PIEZO11Jul 7, 2021
PKD14Jul 7, 2021
PKD22Jul 7, 2021
PKHD13Jul 7, 2021
SALL11Jul 7, 2021
SLC12A31Jul 7, 2021
SPRY21Jul 7, 2021
TBX181Jul 7, 2021
TRPV61Jul 7, 2021
TTN1Jul 7, 2021
UNC801Jul 7, 2021
VHL1Jul 7, 2021
VWF37May 13, 2021
WDR191Jul 7, 2021
WNK41Jul 7, 2021
WT11Jul 7, 2021

Condition

NameSubmissionsLast Updated
ARTHROGRYPOSIS MULTIPLEX CONGENITA 61Jul 7, 2021
Afibrinogenemia, congenital16May 13, 2021
Alport syndrome 1, X-linked recessive1Jul 7, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency5May 13, 2021
Atypical hemolytic-uremic syndrome 31Jul 7, 2021
Autosomal recessive polycystic kidney disease3Jul 7, 2021
Bloom syndrome1Jul 7, 2021
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B1Jul 7, 2021
Congenital anomalies of kidney and urinary tract 21Jul 7, 2021
Delta-beta thalassemia1May 13, 2021
Ectopia lentis et pupillae1Jul 7, 2021
Endocrine-cerebroosteodysplasia1Jul 7, 2021
Factor V deficiency11May 13, 2021
Factor VII deficiency9May 13, 2021
Factor X deficiency10May 13, 2021
Factor XIII, A subunit, deficiency of7May 13, 2021
Factor XIII, b subunit, deficiency of7May 13, 2021
Familial hypokalemia-hypomagnesemia1Jul 7, 2021
HELIX syndrome1Jul 7, 2021
Hajdu-Cheney syndrome1Jul 7, 2021
Heinz body anemia6May 13, 2021
Hereditary factor IX deficiency disease1May 13, 2021
Hereditary factor VIII deficiency disease21Jul 7, 2021
Hereditary factor XI deficiency disease1May 13, 2021
Hyperparathyroidism, transient neonatal1Jul 7, 2021
Hypoparathyroidism, deafness, renal disease syndrome1Jul 7, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Jul 7, 2021
IgA nephropathy, susceptibility to, 31Jul 7, 2021
Joubert syndrome 31Jul 7, 2021
Lethal Kniest-like syndrome1Jul 7, 2021
Lethal multiple pterygium syndrome1Jul 7, 2021
Lymphedema, hereditary, III1Jul 7, 2021
Maple syrup urine disease, type 31Jul 7, 2021
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects1Jul 7, 2021
Myopathy, early-onset, with fatal cardiomyopathy1Jul 7, 2021
Nephronophthisis 131Jul 7, 2021
Nephropathy with pretibial epidermolysis bullosa and deafness1Jul 7, 2021
Nephrotic syndrome, type 81Jul 7, 2021
Perlman syndrome1Jul 7, 2021
Polycystic kidney disease 22Jul 7, 2021
Polycystic kidney disease, adult type4Jul 7, 2021
Prothrombin deficiency, congenital8May 13, 2021
Pseudohypoaldosteronism type 2B1Jul 7, 2021
Pseudohypoaldosteronism type 2D1Jul 7, 2021
Renal-hepatic-pancreatic dysplasia 21Jul 7, 2021
Short-rib thoracic dysplasia 3 with or without polydactyly2Jul 7, 2021
Stromme syndrome1Jul 7, 2021
Townes-Brocks syndrome 11Jul 7, 2021
Van Maldergem syndrome 11Jul 7, 2021
Von Hippel-Lindau syndrome1Jul 7, 2021
WT1-Related Disorders1Jul 7, 2021
von Willebrand disease type 137May 13, 2021
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