GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
BBS7 T211Iinsufficiently evaluated pathogenicunknown

(10 web hits)

BBS7 H323Rinsufficiently evaluated pathogenic, f=0.000unknown

(7 web hits)

BBS7 D412Gpathogenic, f=0.002recessive

Predicted to have damaging effect, other mutations in this gene have been implicated in causing Bardet-Biedl syndrome in a recessive manner.

CGI sample GS00253-DNA_A01_200_37
BBS7 S430Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
BBS7 E435Ginsufficiently evaluated not reviewedunknown
BBS7 E659Qinsufficiently evaluated not reviewedunknown
Total results: 6

Gene search

"GENE" or "GENE A123C":

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