GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PMP22 H12Qinsufficiently evaluated pathogenicunknown

(5 web hits)

PMP22 L16Pinsufficiently evaluated pathogenicunknown

(54 web hits)

PMP22 S22Finsufficiently evaluated pathogenicunknown

(5 web hits)

PMP22 W28Rinsufficiently evaluated pathogenicunknown

(13 web hits)

PMP22 D37Vinsufficiently evaluated pathogenicunknown

(4 web hits)

PMP22 T44Ainsufficiently evaluated not reviewedunknown

(1 web hit)

PMP22 A67Pinsufficiently evaluated pathogenicunknown

(9 web hits)

PMP22 A67Tinsufficiently evaluated pathogenicunknown

(4 web hits)

PMP22 M69Kinsufficiently evaluated pathogenicunknown

(6 web hits)

PMP22 S72Linsufficiently evaluated pathogenicunknown

(29 web hits)

PMP22 S79Cinsufficiently evaluated pathogenicunknown

(20 web hits)

PMP22 T118Minsufficiently evaluated pathogenic, f=0.004unknown

(89 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 10971581
PMP22 Y136Spathogenic, f=0.000recessive

Unreported, predicted to be damaging. Other recessive mutations in this gene reported to cause Charcot-Marie-Tooth disease or Dejerine-Sottas disease.

(4420 web hits)

CGI sample GS00253-DNA_E01_200_37
PMP22 G150Cinsufficiently evaluated pathogenicunknown

(1 web hit)

PMP22 R157Winsufficiently evaluated pathogenicunknown

(5 web hits)

Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

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