ClinVar Miner

Variants from Laboratory of Genetics in Ophthalmology, Institut Imagine

Location: France  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
304 146 13 1 0 464

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
GUCY2D 38 38 2 1 79
CRB1 43 29 4 0 76
RPE65 27 22 0 0 49
RPGRIP1 28 3 1 0 32
ALMS1 29 0 1 0 30
NMNAT1 13 16 1 0 30
AIPL1 17 1 0 0 18
GPHN, RDH12 15 3 0 0 18
LCA5 11 3 0 0 14
TULP1 9 5 0 0 14
CRX 12 0 0 0 12
CNGA3 5 4 0 0 9
GPHN, RDH12, ZFYVE26 6 3 0 0 9
SPATA7 9 0 0 0 9
CACNA1F 4 4 0 0 8
LRAT 3 4 0 0 7
AHI1 4 0 1 0 5
CNGB3 5 0 0 0 5
LOC126805613, NMNAT1 1 4 0 0 5
COL18A1 4 0 0 0 4
GIGYF2, KCNJ13 3 1 0 0 4
GPATCH11 4 0 0 0 4
ATF6 1 2 0 0 3
PROM1 3 0 0 0 3
CLN3 1 1 0 0 2
MSTO1 1 1 0 0 2
PPT1 1 1 0 0 2
RD3 2 0 0 0 2
ADAM9 0 0 1 0 1
ALMS1, LOC126806252 1 0 0 0 1
CEP290 0 0 1 0 1
COL18A1, SLC19A1 1 0 0 0 1
IQCB1 0 0 1 0 1
KCNV2 1 0 0 0 1
LOC126860392, RP1 1 0 0 0 1
LOC130056226, SPATA7 1 0 0 0 1
RAB28 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Leber congenital amaurosis 1 36 38 2 1 77
Leber congenital amaurosis 8 43 29 4 0 76
Leber congenital amaurosis 2 27 22 0 0 49
Leber congenital amaurosis 9 14 20 1 0 35
Leber congenital amaurosis 6 28 3 1 0 32
Leber congenital amaurosis 13 21 6 0 0 27
Alstrom syndrome 25 0 0 0 25
Leber congenital amaurosis 4 17 1 0 0 18
Leber congenital amaurosis 15 9 5 0 0 14
Leber congenital amaurosis 5 11 3 0 0 14
Leber congenital amaurosis 7 12 0 0 0 12
Leber congenital amaurosis 3 10 0 0 0 10
Achromatopsia 2 5 4 0 0 9
Congenital stationary night blindness 2A 4 4 0 0 8
Leber congenital amaurosis 14 3 4 0 0 7
early onset and severe retinal dystrophy 6 1 0 0 7
Achromatopsia 3 5 0 0 0 5
Joubert syndrome with ocular defect 4 0 1 0 5
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia 4 0 0 0 4
Leber congenital amaurosis 16 3 1 0 0 4
Retinal dystrophy, early-onset severe 4 0 0 0 4
Achromatopsia 7 1 2 0 0 3
Cone-rod dystrophy 2 3 0 0 0 3
Early-onset retinal dystrophy 2 0 0 0 2
Leber congenital amaurosis 12 2 0 0 0 2
Neuronal ceroid lipofuscinosis 1 1 1 0 0 2
Occult maculopathy 1 0 1 0 2
See cases 1 1 0 0 2
Cone dystrophy with supernormal rod response 1 0 0 0 1
Cone-rod dystrophy 18 0 1 0 0 1
Cone-rod dystrophy 9 0 0 1 0 1
Leber congenital amaurosis 10 0 0 1 0 1
Retinitis pigmentosa 1 1 0 0 0 1
Senior-Loken syndrome 5 0 0 1 0 1

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