GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PEX7 T14Pinsufficiently evaluated pathogenicunknown

(15 web hits)

PEX7 Y40Xinsufficiently evaluated pathogenicunknown

(13 web hits)

PEX7 Y115Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PEX7 G217Rinsufficiently evaluated pathogenic, f=0.000unknown

(48 web hits)

PEX7 A218Vinsufficiently evaluated pathogenic, f=0.000unknown

(50 web hits)

PEX7 R232Xinsufficiently evaluated pathogenicunknown

(5 web hits)

PEX7 L292Xinsufficiently evaluated pathogenic, f=0.000recessive

Rhizomelic Chondrodysplasia Punctata Type 1

(36 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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