S I D E B A R
Format
Sort by

Download:

Choose Destination

Links from PubMed

Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:21918667
GRCh38:
Chr12:21765733
KCNJ8not specified, not providedGMAF:0.00020(A)
GO-ESP:0.00165(A)
Conflicting interpretations of pathogenicity
(Jul 21, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr12:52159459
GRCh38:
Chr12:51765675
SCN8AEarly infantile epileptic encephalopathy 13, not providedPathogenic/Likely pathogenic
(May 2, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr12:52200572
GRCh38:
Chr12:51806788
SCN8AEarly infantile epileptic encephalopathy 13Pathogenic
(Feb 19, 2016)
no assertion criteria provided
Format
Sort by

Download:

Choose Destination
Support Center