ClinVar Miner

Variants from Molecular Biology Laboratory, Fundació Puigvert

Location: Spain  Primary collection method: research
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other total
173 145 1 0 0 4 323

Gene and significance breakdown #

Total genes and gene combinations: 70
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Gene or gene combination pathogenic likely pathogenic uncertain significance other total
PKD1 46 24 0 4 74
COL4A5 15 13 0 0 28
PKHD1 12 15 0 0 27
COL4A4 11 12 0 0 23
COL4A3, MFF-DT 3 14 1 0 18
HNF1B 8 5 0 0 13
PKD2 8 1 0 0 9
NPHP3, NPHP3-ACAD11 6 2 0 0 8
TSC2 6 1 0 0 7
PAX2 5 1 0 0 6
WDR19 2 4 0 0 6
SLC12A3 3 2 0 0 5
ACE 3 1 0 0 4
COL4A1 2 2 0 0 4
COQ8B 1 3 0 0 4
CUBN 1 3 0 0 4
NPHP4 3 1 0 0 4
SLC7A9 1 2 0 0 3
TMEM67 1 2 0 0 3
TSC1 2 1 0 0 3
BBS12 1 1 0 0 2
CEP290 2 0 0 0 2
CLCNKB, LOC106501713 0 2 0 0 2
CLDN19 0 2 0 0 2
CPT2 1 1 0 0 2
CRB2 1 1 0 0 2
CTNS 2 0 0 0 2
HSD11B2 1 1 0 0 2
IFT122 0 2 0 0 2
IFT140 2 0 0 0 2
INVS 2 0 0 0 2
LOC107372315, OSGEP 0 2 0 0 2
MYO1E 1 1 0 0 2
NPHS2 2 0 0 0 2
PMM2 1 1 0 0 2
SLC3A1 0 2 0 0 2
SMARCAL1 1 1 0 0 2
TRPC6 1 1 0 0 2
TTC8 1 1 0 0 2
XPNPEP3 2 0 0 0 2
AQP2, AQP5 1 0 0 0 1
AVPR2 1 0 0 0 1
AXDND1, NPHS2 0 1 0 0 1
BBS1, ZDHHC24 0 1 0 0 1
CLCN5, LOC126863258 0 1 0 0 1
CLCNKB 1 0 0 0 1
CLDN16 0 1 0 0 1
DYNC2H1 1 0 0 0 1
EYA1 1 0 0 0 1
FGFR1 1 0 0 0 1
GREB1L 0 1 0 0 1
HNF1B, LOC126862549 0 1 0 0 1
IFT140, LOC105371046 1 0 0 0 1
INF2 0 1 0 0 1
ITGA8 1 0 0 0 1
JAG1 0 1 0 0 1
LMX1B 1 0 0 0 1
LOC107548112, REN 0 1 0 0 1
MUC1 1 0 0 0 1
MYH9 0 1 0 0 1
NEK8 0 1 0 0 1
NPHP1 1 0 0 0 1
NUP93 0 1 0 0 1
REN 1 0 0 0 1
RET 0 1 0 0 1
SLC12A1 0 1 0 0 1
SLC34A3 1 0 0 0 1
SLC4A1 0 1 0 0 1
TTC21B 0 1 0 0 1
UMOD 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance other total
Polycystic kidney disease, adult type 46 25 0 4 75
Autosomal recessive Alport syndrome 12 18 0 0 30
X-linked Alport syndrome 15 13 0 0 28
Autosomal recessive polycystic kidney disease 12 15 0 0 27
Renal cysts and diabetes syndrome 8 6 0 0 14
Autosomal dominant Alport syndrome 2 7 1 0 10
Nephronophthisis 3 6 2 0 0 8
Polycystic kidney disease 2 8 0 0 0 8
Tuberous sclerosis 2 6 1 0 0 7
Renal coloboma syndrome 5 1 0 0 6
Cystinuria 1 4 0 0 5
Familial hypokalemia-hypomagnesemia 3 2 0 0 5
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2 2 0 0 4
Nephronophthisis 4 3 1 0 0 4
Nephrotic syndrome, type 9 1 3 0 0 4
Renal tubular dysgenesis 3 1 0 0 4
Bartter disease type 3 1 2 0 0 3
Nephronophthisis 11 1 2 0 0 3
Nephronophthisis 13 1 2 0 0 3
Nephrotic syndrome, type 2 2 1 0 0 3
Proteinuria, chronic benign 1 2 0 0 3
Saldino-Mainzer syndrome 3 0 0 0 3
Senior-Loken syndrome 8 1 2 0 0 3
Tuberous sclerosis 1 2 1 0 0 3
Apparent mineralocorticoid excess 1 1 0 0 2
Bardet-Biedl syndrome 12 1 1 0 0 2
Bardet-Biedl syndrome 8 1 1 0 0 2
Carnitine palmitoyl transferase II deficiency, neonatal form 1 1 0 0 2
Cranioectodermal dysplasia 1 0 2 0 0 2
Familial juvenile hyperuricemic nephropathy type 2 1 1 0 0 2
Focal segmental glomerulosclerosis 2 1 1 0 0 2
Focal segmental glomerulosclerosis 6 1 1 0 0 2
Focal segmental glomerulosclerosis 9 1 1 0 0 2
Galloway-Mowat syndrome 3 0 2 0 0 2
Infantile nephronophthisis 2 0 0 0 2
Joubert syndrome 5 2 0 0 0 2
Nephronophthisis-like nephropathy 1 2 0 0 0 2
Nephropathic cystinosis 2 0 0 0 2
PMM2-congenital disorder of glycosylation 1 1 0 0 2
Renal hypomagnesemia 5 with ocular involvement 0 2 0 0 2
Schimke immuno-osseous dysplasia 1 1 0 0 2
Alagille syndrome due to a JAG1 point mutation 0 1 0 0 1
Asphyxiating thoracic dystrophy 3 1 0 0 0 1
Autosomal dominant distal renal tubular acidosis 0 1 0 0 1
Autosomal recessive hypophosphatemic bone disease 1 0 0 0 1
Bardet-Biedl syndrome 1 0 1 0 0 1
Bartter disease type 1 0 1 0 0 1
Benign familial hematuria 0 1 0 0 1
Branchiootorenal syndrome 1 1 0 0 0 1
Dent disease type 1 0 1 0 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 1
Diabetes insipidus, nephrogenic, autosomal 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 1 0 0 1
Focal segmental glomerulosclerosis 5 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 1 0 0 1
Nail-patella syndrome 1 0 0 0 1
Nephronophthisis 1 1 0 0 0 1
Nephronophthisis 12 0 1 0 0 1
Nephrotic syndrome, type 12 0 1 0 0 1
Primary hypomagnesemia 0 1 0 0 1
Proteinuria 0 1 0 0 1
Renal hypodysplasia/aplasia 1 1 0 0 0 1
Renal hypodysplasia/aplasia 3 0 1 0 0 1
Renal hypoplasia/aplasia 0 1 0 0 1
Renal-hepatic-pancreatic dysplasia 2 0 1 0 0 1
Tubulointerstitial kidney disease, autosomal dominant, 2 1 0 0 0 1

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