GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SHH V13Shiftpathogenicdominant

Reported to cause holoprosencephaly in a dominant manner, causing facial and brain deformity. This comes from a ClinVar entry, where it is reported by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000056099/).

SHH G31Rinsufficiently evaluated pathogenicunknown

(22 web hits)

SHH D88Vinsufficiently evaluated pathogenicunknown

(14 web hits)

SHH Q100Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SHH K105Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SHH I111Finsufficiently evaluated pathogenicunknown

(23 web hits)

SHH W117Ginsufficiently evaluated pathogenicunknown

(14 web hits)

SHH W117Rinsufficiently evaluated pathogenicunknown

(14 web hits)

SHH W128Xinsufficiently evaluated pathogenicunknown

(11 web hits)

SHH K157Rinsufficiently evaluated not reviewedunknown
SHH G210Dinsufficiently evaluated not reviewedunknown CGI sample GS000006909
SHH V224Einsufficiently evaluated pathogenicunknown

(4 web hits)

SHH A226Tinsufficiently evaluated pathogenicunknown

(8 web hits)

SHH E256Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SHH E284Xinsufficiently evaluated pathogenicunknown

(4 web hits)

SHH G290Dinsufficiently evaluated pathogenicunknown

(7 web hits)

SHH G290Vinsufficiently evaluated not reviewedunknown CGI sample GS000006909
SHH V332Ainsufficiently evaluated pathogenicunknown

(3 web hits)

SHH A384Tinsufficiently evaluated pathogenicunknown

(3 web hits)

SHH P424Ainsufficiently evaluated pathogenicunknown

(6 web hits)

Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

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