GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
EMD Q43Xinsufficiently evaluated pathogenicunknown

(13 web hits)

EMD D149Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
EMD R157Qpathogenicunknown

Reported by LapCorp to ClinVar as a “likely pathogenic” cause of cardiomyopathy: It’s unclear what inheritance pattern is proposed or what evidence is supports this hypothesis. This gene is usually associated with Emery-Dreifuss muscular dystrophy, and ExAC data indicates that this may be a low quality site in genome/exome sequencing.

EMD P183Hinsufficiently evaluated pathogenicunknown

(16 web hits)

EMD P183Tinsufficiently evaluated pathogenicunknown

(5 web hits)

Total results: 5

Gene search

"GENE" or "GENE A123C":

Log in