GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
EDNRB G57Sinsufficiently evaluated pathogenic, f=0.007unknown

(33 web hits)

EDNRB A183Ginsufficiently evaluated pathogenicunknown

(12 web hits)

EDNRB R201Xinsufficiently evaluated pathogenic, f=0.000unknown

(22 web hits)

EDNRB R253Xinsufficiently evaluated pathogenicunknown

(3 web hits)

EDNRB W275Xinsufficiently evaluated pathogenicunknown

(3 web hits)

EDNRB W276Cinsufficiently evaluated pathogenic, f=0.000unknown

(58 web hits)

EDNRB Y281Hinsufficiently evaluated not reviewedunknown
EDNRB Y293Shiftlikely pathogenicother

Reported as “EDNRB, 1-BP INS, 878T” in OMIM, this frameshift variant has been reported to cause increased susceptibility to Hirschsprung’s disease (partial lack of nerves in the bowel, potentially leading to severe constipation and digestive issues). It may also be associated with Waardenburg syndrome type 4 in a recessive or incomplete-dominance manner.

CGI sample GS000005532
EDNRB L301Xinsufficiently evaluated not reviewedunknown
EDNRB S305Ninsufficiently evaluated pathogenic, f=0.010unknown

(39 web hits)

Total results: 10

Gene search

"GENE" or "GENE A123C":

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