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Results: 19

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
PTENMacrocephaly/autism syndromePathogenic
(Mar 1, 2013)
no assertion criteria provided
2.
GRCh37:
Chr10:89692908
GRCh38:
Chr10:87933151
PTENMacrocephaly/autism syndromePathogenic
(Mar 1, 2013)
no assertion criteria provided
3.
GRCh37:
Chr10:89711882
GRCh38:
Chr10:87952125
PTENMacrocephaly/autism syndromePathogenic
(Mar 1, 2013)
no assertion criteria provided
4.
GRCh37:
Chr12:13764762
GRCh38:
Chr12:13611828
GRIN2BMental retardation, autosomal dominant 6Pathogenic
(Oct 23, 2013)
no assertion criteria provided
5.
GRCh37:
Chr12:13722953
GRCh38:
Chr12:13570019
GRIN2BMental retardation, autosomal dominant 6Pathogenic
(Oct 23, 2013)
no assertion criteria provided
6.
GRCh37:
Chr12:13768560
GRCh38:
Chr12:13615626
GRIN2BMental retardation, autosomal dominant 6Pathogenic
(Dec 19, 2014)
no assertion criteria provided
7.
GRCh37:
Chr12:14019044
GRCh38:
Chr12:13866110
GRIN2BMental retardation, autosomal dominant 6Pathogenic
(Oct 23, 2013)
no assertion criteria provided
8.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
9.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
10.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
11.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
12.
GRCh37:
Chr14:21870169
GRCh38:
Chr14:21402010
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
13.
GRCh37:
Chr14:21871178
GRCh38:
Chr14:21403019
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
14.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
15.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
16.
CHD8Autism, susceptibility to, 18risk factor
(Jan 24, 2013)
no assertion criteria provided
17.
DYRK1AMental retardation, autosomal dominant 7Pathogenic
(Oct 3, 2013)
no assertion criteria provided
18.
GRCh37:
Chr21:38865466
GRCh38:
Chr21:37493164
DYRK1AMental retardation, autosomal dominant 7Pathogenic
(May 23, 2014)
no assertion criteria provided
19.
GRCh37:
Chr21:38845117-38845118
GRCh38:
Chr21:37472815-37472816
DYRK1AMental retardation, autosomal dominant 7Pathogenic
(Jun 11, 2015)
no assertion criteria provided

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