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Molecular Biology Laboratory (Fundació Puigvert), Lab BM

General information

Molecular Biology Laboratory, Lab BM
Fundació Puigvert
Cartagena 340-350
Barcelona
Spain - 08025
https://www.fundacio-puigvert.es/
Organization ID: 507661

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 323

Gene

GeneSubmissionsLast Updated
ACE4Jul 10, 2020
AQP21Jul 10, 2020
AQP5-AS11Jul 10, 2020
AVPR21Jul 10, 2020
AXDND11Jul 10, 2020
BBS11Jul 10, 2020
BBS122Jul 10, 2020
CEP2902Jul 10, 2020
CLCN51Jul 10, 2020
CLCNKB3Jul 10, 2020
CLDN161Jul 10, 2020
CLDN192Jul 10, 2020
COL4A14Jul 10, 2020
COL4A318May 31, 2021
COL4A423Jul 10, 2020
COL4A528Jul 10, 2020
COQ8B4Jul 10, 2020
CPT22Jul 10, 2020
CRB22Jul 10, 2020
CTNS2Jul 10, 2020
CTNS-AS11Jul 10, 2020
CTXN2-AS11Jul 10, 2020
CUBN4Jul 19, 2022
DYNC2H11Jul 10, 2020
EYA11Jul 10, 2020
FGFR11Jul 10, 2020
GREB1L1Jul 10, 2020
HNF1B14Jul 10, 2020
HSD11B22Jul 10, 2020
IFT1222Jul 10, 2020
IFT1403Jul 10, 2020
INF21Jul 21, 2022
INVS2Jul 10, 2020
ITGA81Jul 10, 2020
JAG11Jul 10, 2020
LMX1B1Jul 10, 2020
LOC1053710461Jul 10, 2020
LOC1065017132Jul 10, 2020
LOC1073723152Jul 10, 2020
LOC1075481121Jul 10, 2020
LOC1268625491Jul 10, 2020
LOC1268632581Jul 10, 2020
MFF-DT18May 31, 2021
MIR6511B11Jul 10, 2020
MUC11Jul 10, 2020
MYH91Jul 10, 2020
MYO1E2Jul 10, 2020
NEK81Jul 10, 2020
NPHP11Jul 10, 2020
NPHP38Jul 10, 2020
NPHP3-ACAD118Jul 10, 2020
NPHP3-AS12Jul 10, 2020
NPHP44Jul 10, 2020
NPHS23Jul 10, 2020
NUP931Jul 10, 2020
OSGEP2Jul 10, 2020
PAX26Jul 10, 2020
PKD174Jul 10, 2020
PKD1-AS112Jul 10, 2020
PKD29Jul 10, 2020
PKHD127Jul 10, 2020
PMM22Jul 10, 2020
REN2Jul 10, 2020
RET1Jul 10, 2020
SLC12A11Jul 10, 2020
SLC12A35Jul 10, 2020
SLC34A31Jul 10, 2020
SLC3A12Jul 10, 2020
SLC4A11Jul 10, 2020
SLC7A93Jul 10, 2020
SMARCAL12Jul 10, 2020
TMEM673Jul 10, 2020
TRPC62Jul 10, 2020
TSC13Jul 10, 2020
TSC27Jul 10, 2020
TTC21B1Jul 10, 2020
TTC21B-AS11Jul 10, 2020
TTC82Jul 10, 2020
UMOD1Jul 10, 2020
WDR196Jul 10, 2020
XPNPEP32Mar 9, 2021
ZDHHC241Jul 10, 2020

Condition

NameSubmissionsLast Updated
Alagille syndrome due to a JAG1 point mutation1Jul 10, 2020
Apparent mineralocorticoid excess2Jul 10, 2020
Asphyxiating thoracic dystrophy 31Jul 10, 2020
Autosomal dominant Alport syndrome10May 31, 2021
Autosomal dominant distal renal tubular acidosis1Jul 10, 2020
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome4Jul 10, 2020
Autosomal recessive Alport syndrome30Jul 10, 2020
Autosomal recessive hypophosphatemic bone disease1Jul 10, 2020
Autosomal recessive polycystic kidney disease27Jul 10, 2020
Bardet-Biedl syndrome 11Jul 10, 2020
Bardet-Biedl syndrome 122Jul 10, 2020
Bardet-Biedl syndrome 82Jul 10, 2020
Bartter disease type 11Jul 10, 2020
Bartter disease type 33Jul 10, 2020
Benign familial hematuria1Jul 10, 2020
Branchiootorenal syndrome 11Jul 10, 2020
Carnitine palmitoyl transferase II deficiency, neonatal form2Jul 10, 2020
Cranioectodermal dysplasia 12Jul 10, 2020
Cystinuria5Jul 10, 2020
Dent disease type 11Jul 10, 2020
Diabetes insipidus, nephrogenic, X-linked1Jul 10, 2020
Diabetes insipidus, nephrogenic, autosomal1Jul 10, 2020
Familial hypokalemia-hypomagnesemia5Jul 10, 2020
Familial juvenile hyperuricemic nephropathy type 11Jul 10, 2020
Familial juvenile hyperuricemic nephropathy type 22Jul 10, 2020
Focal segmental glomerulosclerosis 22Jul 10, 2020
Focal segmental glomerulosclerosis 51Jul 21, 2022
Focal segmental glomerulosclerosis 62Jul 10, 2020
Focal segmental glomerulosclerosis 92Jul 10, 2020
Galloway-Mowat syndrome 32Jul 10, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia1Jul 10, 2020
Infantile nephronophthisis2Jul 10, 2020
Joubert syndrome 52Jul 10, 2020
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1Jul 10, 2020
Nail-patella syndrome1Jul 10, 2020
Nephronophthisis 11Jul 10, 2020
Nephronophthisis 113Jul 10, 2020
Nephronophthisis 121Jul 10, 2020
Nephronophthisis 133Jul 10, 2020
Nephronophthisis 38Jul 10, 2020
Nephronophthisis 44Jul 10, 2020
Nephronophthisis-like nephropathy 12Mar 9, 2021
Nephropathic cystinosis2Jul 10, 2020
Nephrotic syndrome, type 121Jul 10, 2020
Nephrotic syndrome, type 23Jul 10, 2020
Nephrotic syndrome, type 94Jul 10, 2020
PMM2-congenital disorder of glycosylation2Jul 10, 2020
Polycystic kidney disease 28Jul 10, 2020
Polycystic kidney disease, adult type75Jul 10, 2020
Primary hypomagnesemia1Jul 10, 2020
Proteinuria1Jul 19, 2022
Proteinuria, chronic benign3Mar 31, 2021
Renal coloboma syndrome6Jul 10, 2020
Renal cysts and diabetes syndrome14Jul 10, 2020
Renal hypodysplasia/aplasia 11Jul 10, 2020
Renal hypodysplasia/aplasia 31Jul 10, 2020
Renal hypomagnesemia 5 with ocular involvement2Jul 10, 2020
Renal hypoplasia/aplasia1Jul 10, 2020
Renal-hepatic-pancreatic dysplasia 21Jul 10, 2020
Renotubular dysgenesis4Jul 10, 2020
Saldino-Mainzer syndrome3Jul 10, 2020
Schimke immuno-osseous dysplasia2Jul 10, 2020
Senior-Loken syndrome 83Jul 10, 2020
Tuberous sclerosis 13Jul 10, 2020
Tuberous sclerosis 27Jul 10, 2020
Tubulointerstitial kidney disease, autosomal dominant, 21Jul 10, 2020
X-linked Alport syndrome28Jul 10, 2020