Variants from Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania

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
6	64	105	7	1	181

Gene and significance breakdown #

Total genes and gene combinations: 31

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJA8	1	25	61	3	0	89
GJA3	2	28	27	1	0	57
CRYBB2	0	1	2	0	0	3
MIP	1	0	2	0	0	3
intergenic	0	0	0	2	0	2
SLC7A8	0	1	1	0	0	2
ANKRD34C, MIR184	0	0	1	0	0	1
BFSP1	0	1	0	0	0	1
BFSP2	0	0	1	0	0	1
COL2A1	1	0	0	0	0	1
COL4A1	0	1	0	0	0	1
CRYAA	0	1	0	0	0	1
CRYBA4, CRYBB1	0	0	1	0	0	1
CRYGC, LOC100507443	0	1	0	0	0	1
CYP51A1	0	0	1	0	0	1
ERO1B	0	0	1	0	0	1
EYA1	0	0	0	0	1	1
FBN1	0	0	1	0	0	1
HSF4	0	1	0	0	0	1
IARS2	0	0	1	0	0	1
LEMD2, LOC129996186	0	0	1	0	0	1
LOC130004590, PITX3	0	1	0	0	0	1
LONP1	0	0	1	0	0	1
LSS	0	0	1	0	0	1
NAALADL2	0	0	0	1	0	1
NHS	0	1	0	0	0	1
PAX6	0	1	0	0	0	1
PGRMC1	1	0	0	0	0	1
PRX	0	0	1	0	0	1
TERT	0	1	0	0	0	1
WFS1	0	0	1	0	0	1

Condition and significance breakdown #

Total conditions: 11

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Cataract 1 multiple types	1	24	60	3	0	88
Cataract 14 multiple types	2	27	27	1	0	57
Developmental cataract	1	8	17	3	1	30
Cataract 3 multiple types	0	1	2	0	0	3
Cataract	0	1	1	0	0	2
Aniridia 1	0	1	0	0	0	1
Cataract 15 multiple types	1	0	0	0	0	1
Cataract 2, multiple types	0	1	0	0	0	1
Interstitial lung disease 2	0	1	0	0	0	1
Nance-Horan syndrome	0	1	0	0	0	1
Stickler syndrome type 1	1	0	0	0	0	1

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