Variants from Eye Genetics Research Group, Children's Medical Research Institute

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
33	28	15	1	2	78

Gene and significance breakdown #

Total genes and gene combinations: 38

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJA8	3	4	0	0	1	8
CYP1B1	2	0	4	0	0	6
FOXC1	2	2	0	0	0	4
BFSP1	0	1	2	0	0	3
CRYBB2	0	3	0	0	0	3
GJA3	2	1	0	0	0	3
MAF	0	3	0	0	0	3
PAX6	2	2	0	0	0	3
PITX2	3	0	0	0	0	3
BCOR	1	0	1	0	0	2
COL9A3	0	2	0	0	0	2
CPAMD8	1	1	0	0	0	2
CRYAA	1	1	0	0	0	2
CRYAB	0	1	1	0	0	2
CRYBB3	1	1	0	0	0	2
CRYGC, LOC100507443	2	0	0	0	0	2
CRYGD, LOC100507443	2	0	0	0	0	2
MIP	2	0	0	0	0	2
NHS	2	0	0	0	0	2
NMNAT1	1	1	0	0	0	2
PXDN	1	0	0	1	0	2
SLC16A12	0	0	2	0	0	2
ABCB6	0	0	1	0	0	1
ADAMTS17	1	0	0	0	0	1
BCOR, LOC126863239	1	0	0	0	0	1
COL4A1	0	1	0	0	0	1
CRYBA1	0	0	1	0	0	1
CRYBA4	0	0	0	0	1	1
CRYBA4, CRYBB1	0	1	0	0	0	1
CYP1B1, LOC128772254	1	0	0	0	0	1
EPHA2	0	0	1	0	0	1
FOXE3, LINC01389	1	0	0	0	0	1
GDF3	0	0	1	0	0	1
ITPR1, LOC126806590	0	1	0	0	0	1
OCRL	0	0	1	0	0	1
RPE65	1	0	0	0	0	1
RPGR	0	1	0	0	0	1
VIM	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 14

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Developmental cataract	17	16	5	1	2	41
Anterior segment dysgenesis	12	8	0	0	0	20
Congenital ocular coloboma	0	0	7	0	0	7
Irido-corneo-trabecular dysgenesis	3	0	0	0	0	3
Retinal detachment; Lattice retinal degeneration	0	2	0	0	0	2
Cataract 1 multiple types	1	0	0	0	0	1
Cataract 10 multiple types	0	0	1	0	0	1
Cataract 2, multiple types	1	0	0	0	0	1
Cone dystrophy	0	1	0	0	0	1
Cone-rod dystrophy	1	0	0	0	0	1
Leber congenital amaurosis 2	1	0	0	0	0	1
Microphthalmia, isolated, with coloboma 6	0	0	1	0	0	1
Microphthalmia, isolated, with coloboma 7	0	0	1	0	0	1
Retinitis pigmentosa 3	0	1	0	0	0	1

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