Variants from RettBASE - ClinVar Miner

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	not provided	total
513	17	195	14	190	124	992

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MECP2	368	1	170	1	150	92	749
CDKL5	107	15	10	10	29	30	173
FOXG1	25	0	1	0	2	0	28
CDKL5, RS1	4	0	4	3	6	2	19
LOC130068854, MECP2	1	1	9	0	1	0	12
CDKL5, LOC130067999	6	0	0	0	0	0	6
CDKL5, LOC121853052	0	0	1	0	2	0	3
IRAK1, LOC130068849, LOC130068850, LOC130068851, MECP2, MIR718	2	0	0	0	0	0	2

Condition and significance breakdown #

Total conditions: 13

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Rett syndrome	326	3	115	0	0	0	444
not specified	0	0	20	13	190	0	223
not provided	51	2	0	0	0	124	177
Developmental and epileptic encephalopathy, 2	75	8	4	0	0	0	87
Atypical Rett syndrome	42	5	6	0	0	0	53
X-linked intellectual disability-psychosis-macroorchidism syndrome	12	0	24	1	0	0	37
Autism, susceptibility to, X-linked 3	4	0	23	1	0	0	28
Rett syndrome, congenital variant	20	0	1	0	0	0	21
Severe neonatal-onset encephalopathy with microcephaly	9	0	4	0	0	0	13
Angelman syndrome	7	0	2	0	0	0	9
Attention deficit hyperactivity disorder	1	0	0	1	0	0	2
Autism	1	0	1	0	0	0	2
Schizophrenia	0	0	1	0	0	0	1

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