Variants from Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
160	143	33	10	6	352

Gene and significance breakdown #

Total genes and gene combinations: 104

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ABCA4	20	5	1	0	0	26
USH2A	10	7	3	0	0	20
AP5Z1	0	14	2	0	0	16
MT-CYB	0	0	3	10	3	16
CRB1	6	4	2	0	0	12
EYS	7	4	0	0	0	11
PROM1	8	2	0	0	0	10
MYO7A	6	3	0	0	0	9
RP1	7	2	0	0	0	9
RPE65	4	4	0	0	0	8
MERTK	4	3	0	0	0	7
PDE6B	1	6	0	0	0	7
RPGR	2	5	0	0	0	7
TULP1	1	6	0	0	0	7
GPHN, RDH12	3	2	1	0	0	6
RHO	5	0	1	0	0	6
SAXO6	2	4	0	0	0	6
CEP290	1	3	1	0	0	5
CNGB1	2	3	0	0	0	5
COQ8B	0	5	0	0	0	5
GUCY2D	1	3	1	0	0	5
TTLL5	3	1	1	0	0	5
ABCA4, LOC126805793	3	1	0	0	0	4
CNGA3	1	2	1	0	0	4
FAM161A	3	1	0	0	0	4
PDE6A	1	3	0	0	0	4
RPGRIP1	2	2	0	0	0	4
SPATA7	2	2	0	0	0	4
AIPL1	1	2	0	0	0	3
AP5B1	0	3	0	0	0	3
AP5M1	0	2	1	0	0	3
CHM	2	1	0	0	0	3
CNGB3	3	0	0	0	0	3
LCA5	2	1	0	0	0	3
MT-CYB, MT-TT	0	0	0	0	3	3
NR2E3	2	1	0	0	0	3
PDE6C	2	0	1	0	0	3
ADGRV1	2	0	0	0	0	2
BLOC1S1-RDH5, CD63, RDH5	1	1	0	0	0	2
CACNA1F	1	1	0	0	0	2
CDKL5, RS1	1	1	0	0	0	2
CERKL	2	0	0	0	0	2
CERKL, LOC129935214	1	1	0	0	0	2
CFAP418	0	2	0	0	0	2
CLN3	2	0	0	0	0	2
CRX	1	1	0	0	0	2
FLVCR1	2	0	0	0	0	2
GRK1	2	0	0	0	0	2
IMPG1	1	1	0	0	0	2
IMPG2	0	1	1	0	0	2
KCNV2	1	1	0	0	0	2
MFSD8	0	1	1	0	0	2
MT-TT	0	0	2	0	0	2
NMNAT1	2	0	0	0	0	2
PRPF31	1	1	0	0	0	2
PRPH2	0	2	0	0	0	2
RAB28	0	2	0	0	0	2
RNU4-2, SIRT4	2	0	0	0	0	2
RNU6-1	0	1	1	0	0	2
RNU6-2	1	0	1	0	0	2
RNU6-9	0	1	1	0	0	2
RP2	0	2	0	0	0	2
WDR19	2	0	0	0	0	2
intergenic	0	0	1	0	0	1
AGBL5	0	1	0	0	0	1
ARL2BP	1	0	0	0	0	1
ARL6	1	0	0	0	0	1
BBS1, ZDHHC24	1	0	0	0	0	1
BBS12	0	1	0	0	0	1
BBS7	0	1	0	0	0	1
BEST1	1	0	0	0	0	1
CFAP410, LOC130066823	1	0	0	0	0	1
CLCC1	0	1	0	0	0	1
CLN5	1	0	0	0	0	1
CNGA1, LOC101927157	1	0	0	0	0	1
CNNM4	0	1	0	0	0	1
CYGB, PRCD	0	1	0	0	0	1
DRAM2	0	1	0	0	0	1
GNAT1	0	1	0	0	0	1
GPHN, RDH12, ZFYVE26	0	0	1	0	0	1
GRM6, ZNF454	1	0	0	0	0	1
GUCA1A, GUCA1ANB-GUCA1A	0	1	0	0	0	1
LOC112806037, MERTK	0	0	1	0	0	1
LOC130068202, RP2	1	0	0	0	0	1
LRIT3	0	1	0	0	0	1
LRP5	0	1	0	0	0	1
MT-TE	0	0	1	0	0	1
NDP	1	0	0	0	0	1
NYX	1	0	0	0	0	1
OAT	0	1	0	0	0	1
OPA1	1	0	0	0	0	1
PCARE	0	1	0	0	0	1
PDE6H	1	0	0	0	0	1
PNPLA6	0	1	0	0	0	1
POC1B, POC1B-DUSP6	0	0	1	0	0	1
POMGNT1, TSPAN1	0	1	0	0	0	1
PRPF8	1	0	0	0	0	1
RLBP1	0	0	1	0	0	1
RNU6-8	1	0	0	0	0	1
SDCCAG8	1	0	0	0	0	1
SLC6A6	1	0	0	0	0	1
SNRNP200	0	0	1	0	0	1
SSBP1	1	0	0	0	0	1
TTC8	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 22

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Retinal dystrophy	67	61	4	0	0	132
Retinitis pigmentosa	41	33	8	0	0	82
Cone-rod dystrophy	19	8	4	0	0	31
Macular dystrophy with or without extraocular features	0	19	3	0	0	22
Leber congenital amaurosis	13	3	2	0	0	18
Familial cancer of breast	0	0	4	7	5	16
Stargardt disease	11	3	0	0	0	14
Usher syndrome	6	6	2	0	0	14
Ovarian neoplasm	0	0	3	3	1	7
Cone dystrophy	4	1	1	0	0	6
Retinitis pigmentosa with or without extraocular features	0	4	0	0	0	4
Choroideremia	2	1	0	0	0	3
Congenital stationary night blindness	1	1	1	0	0	3
Achromatopsia	1	0	1	0	0	2
Cone-rod dystrophy with or without extraocular features	2	0	0	0	0	2
Juvenile retinoschisis	1	1	0	0	0	2
Renal dysplasia and retinal aplasia	2	0	0	0	0	2
Bardet-Biedl syndrome	1	0	0	0	0	1
Choroidal dystrophy, central areolar 2	0	1	0	0	0	1
Ornithine aminotransferase deficiency	0	1	0	0	0	1
Retinal macular dystrophy type 2	1	0	0	0	0	1
Severe early-childhood-onset retinal dystrophy	0	1	0	0	0	1

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