Variants from Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)

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
10	4	1	0	2	17

Gene and significance breakdown #

Total genes and gene combinations: 12

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
BRF1	1	1	0	0	2
MECP2	0	0	0	2	2
SNAP29	2	0	0	0	2
TBC1D24	2	0	0	0	2
TECPR2	1	1	0	0	2
AP4S1	0	1	0	0	1
GNAO1	1	0	0	0	1
LOC126860802, ZMYND11	1	0	0	0	1
MTFMT	1	0	0	0	1
PPP2R5C	0	0	1	0	1
SEMA6B	0	1	0	0	1
VCP	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 12

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Condition	pathogenic	likely pathogenic	uncertain significance	benign	total
Cerebellar-facial-dental syndrome	1	1	0	0	2
Global developmental delay	1	0	1	0	2
Hereditary spastic paraplegia 49	1	1	0	0	2
Hypomyelinating leukodystrophy 2	2	0	0	0	2
Parkinsonian disorder	2	0	0	0	2
Rett syndrome	0	0	0	2	2
Autosomal dominant epilepsy	1	0	0	0	1
Developmental and epileptic encephalopathy, 17	1	0	0	0	1
Epilepsy, progressive myoclonic, 11	0	1	0	0	1
Intellectual disability, autosomal dominant 30	1	0	0	0	1
Leigh syndrome	1	0	0	0	1
Spastic paraplegia 52, autosomal recessive	0	1	0	0	1

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