Variants from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

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
262	0	0	0	26	288

Gene and significance breakdown #

Total genes and gene combinations: 14

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Gene or gene combination	pathogenic	benign	total
HBB, LOC106099062, LOC107133510	185	7	192
HBB, LOC107133510, LOC110006319	41	10	51
HBB, LOC106099062, LOC107133510, LOC110006319	13	0	13
HBA2, LOC106804612	5	6	11
HBA1, LOC106804613	4	2	6
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091	4	0	4
HBA1, HBA2, HBZ	3	0	3
HBA1, HBA2	2	0	2
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090, LOC130058091	1	0	1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613	1	0	1
HBA1, HBA2, HBM, LOC106804612, LOC106804613	1	0	1
HBA2	0	1	1
HBB	1	0	1
HBB, HBB-LCR	1	0	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	benign	total
beta Thalassemia	241	17	258
alpha Thalassemia	21	9	30

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