Variants from National Institute of Neuroscience, National Center of Neurology and Psychiatry

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	2	0	0	0	12

Gene and significance breakdown #

Total genes and gene combinations: 12

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Gene or gene combination	pathogenic	likely pathogenic	total
ADNP	1	0	1
AGTPBP1	1	0	1
ANKRD11	0	1	1
DYRK1A, LOC130066653	1	0	1
IQSEC2	1	0	1
KCNA2	1	0	1
PTEN	1	0	1
SATB2	1	0	1
SLC6A8	1	0	1
SMS	0	1	1
SPAST	1	0	1
TCF4	1	0	1

Condition and significance breakdown #

Total conditions: 12

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Condition	pathogenic	likely pathogenic	total
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	1	0	1
Chromosome 2q32-q33 deletion syndrome	1	0	1
Creatine transporter deficiency	1	0	1
DYRK1A-related intellectual disability syndrome	1	0	1
Developmental and epileptic encephalopathy, 32	1	0	1
Hereditary spastic paraplegia 4	1	0	1
Intellectual disability, X-linked 1	1	0	1
KBG syndrome	0	1	1
Macrocephaly-autism syndrome	1	0	1
Neurodegeneration, childhood-onset, with cerebellar atrophy	1	0	1
Pitt-Hopkins syndrome	1	0	1
Syndromic X-linked intellectual disability Snyder type	0	1	1

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