ClinVar Miner

Variants from Sharon lab, Hadassah-Hebrew University Medical Center

Location: Israel  Primary collection method: research
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 total
389 176 0 0 0 565

Gene and significance breakdown #

Total genes and gene combinations: 136
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Gene or gene combination pathogenic likely pathogenic total
ABCA4 31 20 51
USH2A 21 25 46
CNGA3 12 9 21
EYS 19 2 21
RPGR 16 3 19
CRB1 9 6 15
MYO7A 11 3 14
PRPH2 4 10 14
BEST1 12 1 13
CACNA1F 10 2 12
GUCY2D 4 7 11
RHO 3 8 11
CNGB3 8 2 10
CDKL5, RS1 2 6 8
CNGA1, LOC101927157 4 4 8
KCNV2 5 3 8
PDE6A 6 2 8
CHM 7 0 7
NR2E3 5 2 7
PCARE 6 1 7
TULP1 6 1 7
ABCA4, LOC126805793 5 1 6
ADGRV1 4 2 6
CDHR1 4 2 6
GPHN, RDH12 5 1 6
NYX 3 3 6
RP2 5 1 6
ABCC6 2 3 5
BBS2 3 2 5
BLOC1S1-RDH5, RDH5 5 0 5
CLRN1 4 1 5
CNGB1 4 1 5
RPGRIP1 4 1 5
ADAM9 4 0 4
AIPL1 4 0 4
BLOC1S1-RDH5, CD63, RDH5 3 1 4
CDH3 2 2 4
CEP290 4 0 4
EYS, PHF3 3 1 4
FAM161A 3 1 4
TRPM1 3 1 4
BBS4 2 1 3
CFAP410 2 1 3
GPHN, RDH12, ZFYVE26 2 1 3
IMPG2 2 1 3
LCA5 3 0 3
OAT 2 1 3
PDE6B 3 0 3
PROM1 3 0 3
PRPF31 3 0 3
RLBP1 2 1 3
RP1 3 0 3
RPE65 3 0 3
USH1C 3 0 3
AHI1 2 0 2
ALMS1 1 1 2
ARL2BP 2 0 2
BBS1, ZDHHC24 2 0 2
BBS7 1 1 2
CEP78 2 0 2
CERKL 2 0 2
CFAP418 1 1 2
CNNM4 1 1 2
COL2A1 2 0 2
CYP4V2 2 0 2
DHDDS 1 1 2
EPG5 1 1 2
GNAT1 2 0 2
HGSNAT 2 0 2
IDH3A 2 0 2
IQCB1 2 0 2
LOC130068202, RP2 2 0 2
MAK 2 0 2
MKS1 0 2 2
NRL 2 0 2
PDE6C 0 2 2
PRPF8 1 1 2
SLC38A8 2 0 2
TMEM231 1 1 2
TOPORS 2 0 2
TTC21B 1 1 2
ZNF408 1 1 2
ABCA4, LOC126805794 0 1 1
AGBL5 1 0 1
ALDH3A2 0 1 1
ALMS1, LOC126806252 0 1 1
ARL6 1 0 1
ARSG 1 0 1
BBS1 1 0 1
BBS10 1 0 1
BBS5 1 0 1
BBS9 1 0 1
CABP4 1 0 1
CACNA2D4 1 0 1
CDH23 1 0 1
CEP250 1 0 1
CERKL, LOC129935214 1 0 1
CERKL, LOC129935215 1 0 1
COL18A1 1 0 1
CRX 0 1 1
CYGB, PRCD 1 0 1
DHX38 0 1 1
FZD4, PRSS23 0 1 1
IDS, LOC106050102 0 1 1
IFT140, LOC105371046 1 0 1
IMPDH1 0 1 1
INPP5E 0 1 1
KIF11 1 0 1
KIZ, LOC130065509 1 0 1
KLHL7 0 1 1
LOC111365204, PRDM13 0 1 1
LOC122152296, USH2A 0 1 1
MAN2B1 1 0 1
MERTK 1 0 1
NDP 0 1 1
NMNAT1 1 0 1
P3H2 1 0 1
PAX6 1 0 1
PCDH15 1 0 1
PDE6G 1 0 1
PEX6 1 0 1
PHYH 1 0 1
PLA2G5 1 0 1
POC5 1 0 1
PRPF3 1 0 1
PRPF6 1 0 1
RAB28 1 0 1
RBP3 1 0 1
SCAPER 1 0 1
SDCCAG8 1 0 1
SNRNP200 0 1 1
SPATA7 1 0 1
TSPAN12 0 1 1
TTLL5 1 0 1
USH1G 1 0 1
VPS13B 1 0 1

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic total
Retinitis pigmentosa 144 74 218
Stargardt disease 29 14 43
Leber congenital amaurosis 29 7 36
Cone-rod dystrophy 24 9 33
Achromatopsia 19 10 29
Usher syndrome type 2 21 6 27
Congenital stationary night blindness 13 6 19
Usher syndrome type 1 16 3 19
maculopathy 6 10 16
Bardet-Biedl syndrome 9 4 13
Vitelliform macular dystrophy 2 11 1 12
Pigmentary retinal dystrophy 7 2 9
Retinoschisis 2 6 8
cone dystrophy with supernormal rod electroretinogram 5 3 8
Choroideremia 7 0 7
Autosomal recessive inherited pseudoxanthoma elasticum 2 3 5
Renal dysplasia and retinal aplasia 4 1 5
Syndromic retinitis pigmentosa 4 1 5
Usher syndrome type 3 4 1 5
Cone dystrophy 3 1 4
Enhanced S-cone syndrome 4 0 4
Familial exudative vitreoretinopathy 1 3 4
Hypotrichosis with juvenile macular dystrophy 2 1 3
Ornithine aminotransferase deficiency 2 1 3
Retinitis punctata albescens 3 0 3
Alstrom syndrome 0 2 2
Bietti crystalline corneoretinal dystrophy 2 0 2
Ciliopathy 1 1 2
Foveal hypoplasia 2 0 2
Jalili syndrome 1 1 2
Sensorineural hearing loss disorder; Cone-rod dystrophy 2 0 2
Usher syndrome 2 0 2
Adult onset vitelliform dystrophy 0 1 1
Atrophia bulborum hereditaria 0 1 1
Cohen syndrome 1 0 1
Congenital aniridia 1 0 1
Deficiency of alpha-mannosidase 1 0 1
Knobloch syndrome 1 0 1
Late-onset retinal degeneration 1 0 1
Mucopolysaccharidosis, MPS-II 0 1 1
Patterned macular dystrophy 1 0 1 1
Peroxisome biogenesis disorder 1 0 1
Refsum syndrome 1 0 1
Retinal detachment 1 0 1
Sjögren-Larsson syndrome 0 1 1

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