Variants from Centre for Population Genomics, CPG

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)

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
402	298	222	87	192	1201

Gene and significance breakdown #

Total genes and gene combinations: 9

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MECP2	271	180	135	55	155	796
CDKL5	101	86	54	22	21	284
FOXG1	27	20	3	2	0	52
RNU4-2, SIRT4	1	8	20	0	0	29
CDKL5, RS1	0	0	1	8	7	16
LOC130068854, MECP2	1	4	3	0	6	14
RNU4-2	0	0	6	0	0	6
CDKL5, LOC121853052	0	0	0	0	3	3
FOXG1, LINC01551	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Rett syndrome	279	197	138	56	161	831
CDKL5 disorder	97	78	55	29	31	290
FOXG1 disorder	23	14	2	2	0	41
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	1	8	26	0	0	35
Severe neonatal-onset encephalopathy with microcephaly	1	1	1	0	0	3
X-linked intellectual disability-psychosis-macroorchidism syndrome	1	0	0	0	0	1

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