GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
GABRD N65Tinsufficiently evaluated noneunknown
GABRD L68Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
GABRD E177Ainsufficiently evaluated pathogenicunknown

(50 web hits)

GABRD V193Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19026-1100-36-ASM
GABRD R220Huncertain benign, f=0.016unknown

Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant’s incidence in control vs. affected populations.

(47 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
GABRD V321Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
GABRD E400Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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