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Items: 8

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:5567484
GRCh38:
Chr7:5527853
ACTBBaraitser-Winter syndrome 1, not specifiedBenign/Likely benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr7:5567528
GRCh38:
Chr7:5527897
ACTBnot specifiedBenign
(Apr 21, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:5567677
GRCh38:
Chr7:5528046
ACTBBaraitser-Winter syndrome 1, not specifiedBenign/Likely benign
(Aug 11, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:5568089
GRCh38:
Chr7:5528458
ACTBBaraitser-Winter syndrome 1Pathogenic/Likely pathogenic
(Apr 15, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr7:5568127
GRCh38:
Chr7:5528496
ACTBBaraitser-Winter syndrome 1, not providedPathogenic
(Apr 3, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr7:5568167
GRCh38:
Chr7:5528536
ACTBBaraitser-Winter syndrome 1, Juvenile-onset dystonia, Inborn genetic diseases
Pathogenic/Likely pathogenic
(Apr 3, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:5569225
GRCh38:
Chr7:5529594
ACTBBaraitser-Winter syndrome 1Likely pathogenic
(Aug 15, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr7:5569298
GRCh38:
Chr7:5529667
ACTBnot specifiedBenign/Likely benign
(Aug 22, 2016)
criteria provided, multiple submitters, no conflicts
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