Variants from Moosajee Lab, UCL Institute of Ophthalmology

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)
		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
2	6	4	0	0	12

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
ABCA4	0	1	1	2
CNGB1	0	2	0	2
AGBL5	0	1	0	1
CRB1	1	0	0	1
GIGYF2, KCNJ13	0	0	1	1
GPHN, RDH12, ZFYVE26	1	0	0	1
HESX1	0	0	1	1
IFT172	0	0	1	1
OCA2	0	1	0	1
PCARE	0	1	0	1

Condition and significance breakdown #

Total conditions: 10

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Condition	pathogenic	likely pathogenic	uncertain significance	total
Cone-rod dystrophy 3	0	1	1	2
Retinitis pigmentosa 45	0	2	0	2
Leber congenital amaurosis 16	0	0	1	1
Retinitis pigmentosa	1	0	0	1
Retinitis pigmentosa 12	1	0	0	1
Retinitis pigmentosa 54	0	1	0	1
Retinitis pigmentosa 71	0	0	1	1
Retinitis pigmentosa 75	0	1	0	1
Septo-optic dysplasia sequence	0	0	1	1
Tyrosinase-positive oculocutaneous albinism	0	1	0	1

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