ClinVar Miner

Variants from Sydney Genome Diagnostics, Children's Hospital Westmead

Location: Australia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor total
108 84 116 2 0 2 312

Gene and significance breakdown #

Total genes and gene combinations: 110
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
COL4A5 25 12 6 0 0 43
COL4A4 4 9 3 0 0 16
SLC12A3 6 4 5 0 0 15
CFH 5 1 6 0 0 12
COL4A3, MFF-DT 4 4 3 0 0 11
NPHS1 6 3 1 0 0 10
NPHP4 4 2 3 0 0 9
UMOD 0 4 4 0 0 8
PKHD1 1 4 2 0 0 7
C3 2 0 4 0 0 6
CLCN5 2 3 0 0 0 5
LAMB2 1 1 3 0 0 5
TRPC6 1 1 3 0 0 5
CD46 2 1 1 0 0 4
CFI 0 1 3 0 0 4
CPLANE1 0 1 3 0 0 4
FRAS1 2 0 2 0 0 4
NPHS2 2 1 0 0 1 4
SLC4A1 1 1 2 0 0 4
THBD 1 0 2 0 1 4
TTC21B 1 0 3 0 0 4
ADAMTS13 0 1 2 0 0 3
ALMS1 0 1 2 0 0 3
AXDND1, NPHS2 0 3 0 0 0 3
CEP290 0 2 1 0 0 3
HNF1B 2 0 0 1 0 3
INVS 2 0 1 0 0 3
SLC7A9 2 0 1 0 0 3
AGXT 2 0 0 0 0 2
AHI1 2 0 0 0 0 2
ATP6V1B1 0 1 1 0 0 2
BBS10 1 1 0 0 0 2
BBS7 0 2 0 0 0 2
CASR 1 0 1 0 0 2
CC2D2A 0 0 2 0 0 2
CFHR5 1 0 1 0 0 2
COQ8B 0 1 1 0 0 2
CTNS 2 0 0 0 0 2
IFT172 0 0 2 0 0 2
INF2 0 0 2 0 0 2
IQCB1 0 2 0 0 0 2
JAG1 1 0 1 0 0 2
LOC126862361, SLC12A3 2 0 0 0 0 2
MKKS 2 0 0 0 0 2
NPHP1 1 1 0 0 0 2
PAX2 1 1 0 0 0 2
PLCE1 0 1 1 0 0 2
RMND1 2 0 0 0 0 2
SALL1 0 0 2 0 0 2
SLC34A1 0 0 2 0 0 2
SMARCAL1 0 1 1 0 0 2
TMEM67 2 0 0 0 0 2
WDR19 0 0 2 0 0 2
ACE 0 1 0 0 0 1
ACTN4 0 0 1 0 0 1
ANLN 0 0 1 0 0 1
AQP2, AQP5 1 0 0 0 0 1
ARHGAP24 0 0 1 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BEST1 0 1 0 0 0 1
BICC1 0 0 1 0 0 1
CD46, LOC129932405 0 0 1 0 0 1
CDKL5, RS1 0 1 0 0 0 1
CEP164 0 0 1 0 0 1
CFB 0 0 1 0 0 1
CLCNKB, LOC106501713 0 0 1 0 0 1
CTXN2, SLC12A1 0 0 1 0 0 1
DGKE 0 1 0 0 0 1
DYNC2H1 1 0 0 0 0 1
EVC 0 0 1 0 0 1
EYA1 1 0 0 0 0 1
FRAS1, LOC126807088 0 0 1 0 0 1
FREM1 0 0 1 0 0 1
FREM2 0 0 1 0 0 1
GATA3 0 1 0 0 0 1
GRHPR 1 0 0 0 0 1
HGSNAT 0 1 0 0 0 1
HNF4A 1 0 0 0 0 1
IFT140 0 0 1 0 0 1
IFT140, LOC105371046 1 0 0 0 0 1
IMPG2 0 0 1 0 0 1
ITGB4 0 0 1 0 0 1
KIF7 0 0 0 1 0 1
KMT2D 0 0 1 0 0 1
LMX1B 1 0 0 0 0 1
LOC112272600, MYO1E 0 1 0 0 0 1
LOC126859690, PKHD1 1 0 0 0 0 1
LOC126862123, SLC12A1 0 0 1 0 0 1
MMACHC 1 0 0 0 0 1
MYH9 0 0 1 0 0 1
MYO1E 0 1 0 0 0 1
NIPBL 0 0 1 0 0 1
NOC3L, PLCE1 0 0 1 0 0 1
NOTCH2 0 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 1 0 0 0 1
NUP93 0 1 0 0 0 1
OCRL 0 1 0 0 0 1
PCARE 0 1 0 0 0 1
PLG 0 0 1 0 0 1
REN 0 0 1 0 0 1
RET 0 0 1 0 0 1
ROBO2 0 0 1 0 0 1
RUNX2 0 1 0 0 0 1
SCN2A 1 0 0 0 0 1
SCNN1A 1 0 0 0 0 1
SEC63 0 0 1 0 0 1
SLC12A1 0 0 1 0 0 1
SPINK1 0 0 1 0 0 1
SRGAP1 0 0 1 0 0 1
WT1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign risk factor total
Nephrotic syndrome 15 22 26 0 1 64
Alport syndrome 28 16 9 0 0 53
Atypical hemolytic-uremic syndrome 13 6 23 0 1 43
Nephronophthisis 14 9 15 1 0 39
Congenital anomaly of kidney and urinary tract 4 2 14 1 0 21
Familial hypokalemia-hypomagnesemia; Bartter syndrome 8 4 9 0 0 21
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 1 4 5 0 0 10
Autosomal recessive polycystic kidney disease 3 4 2 0 0 9
Bardet-Biedl syndrome 2 4 2 0 0 8
Hematuria 2 5 0 0 0 7
Renal tubular acidosis 1 2 3 0 0 6
Cystinuria 2 0 1 0 0 3
Dent disease type 1 1 2 0 0 0 3
Cystinosis 2 0 0 0 0 2
Focal segmental glomerulosclerosis 1 0 1 0 0 2
Meckel syndrome, type 3 2 0 0 0 0 2
Primary hyperoxaluria 2 0 0 0 0 2
Arteriohepatic dysplasia 1 0 0 0 0 1
Autosomal dominant hypocalcemia 1 1 0 0 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 0 0 1
Bartter disease type 3; Bartter disease type 4B 0 0 1 0 0 1
Dent disease type 2 0 1 0 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 0 0 0 0 1
Hypercalcemia, infantile, 2 0 0 1 0 0 1
Joubert syndrome 5 0 0 1 0 0 1
Juvenile retinoschisis 0 1 0 0 0 1
Melnick-Fraser syndrome 1 0 0 0 0 1
Nephrocalcinosis 0 0 1 0 0 1
Nephrogenic diabetes insipidus 1 0 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 0 1
Pseudohypoaldosteronism 1 0 0 0 0 1
Retinitis pigmentosa 54 0 1 0 0 0 1
Retinitis pigmentosa 56 0 0 1 0 0 1
Seizures, benign familial infantile, 3 1 0 0 0 0 1
Synovial plica syndrome 0 1 0 0 0 1
Tropical pancreatitis 0 0 1 0 0 1

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