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Items: 11

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:89999994
GRCh38:
Chr16:89933586
TUBB3not specifiedGMAF:0.04490(T)Benign
(Mar 31, 2014)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr16:90001151
GRCh38:
Chr16:89934743
TUBB3Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement, Cortical dysplasia, complex, with other brain malformations 1, not provided
Conflicting interpretations of pathogenicity
(Mar 18, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr16:90001392
GRCh38:
Chr16:89934984
TUBB3Cortical dysplasia, complex, with other brain malformations 1, not providedPathogenic
(Jun 16, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr16:90001561
GRCh38:
Chr16:89935153
TUBB3not specifiedGMAF:0.01060(T)Benign/Likely benign
(Apr 1, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr16:90001643
GRCh38:
Chr16:89935235
TUBB3Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement, not providedPathogenic
(Jan 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:90001997
GRCh38:
Chr16:89935589
TUBB3Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement, not providedPathogenic
(Aug 1, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:90002031
GRCh38:
Chr16:89935623
TUBB3not providedPathogenic
(Apr 5, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:90002074
GRCh38:
Chr16:89935666
TUBB3not specifiedGMAF:0.01060(A)Benign/Likely benign
(Apr 1, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr16:89696893-90103214
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:89836157-90127980
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:74872514-90274440
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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