GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SOX2 N46Kinsufficiently evaluated pathogenicunknown

(2 web hits)

SOX2 Q55Xinsufficiently evaluated pathogenicunknown

(21 web hits)

SOX2 R74Pinsufficiently evaluated pathogenicunknown

(24 web hits)

SOX2 S83Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SOX2 E93Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SOX2 L97Pinsufficiently evaluated pathogenicunknown

(9 web hits)

SOX2 G130Ainsufficiently evaluated pathogenicunknown

(9 web hits)

SOX2 Q155Xinsufficiently evaluated pathogenicunknown

(16 web hits)

SOX2 Q177Xinsufficiently evaluated pathogenicunknown

Associated with bilateral anopthalmia (absence of both eyes), cryptorchidism, micropenis, severe learning difficulties, mild facial dysmorphism.

(12 web hits)

SOX2 A191Tinsufficiently evaluated pathogenicunknown

(9 web hits)

SOX21 S228Tinsufficiently evaluated noneunknown
SOX21 L248Pinsufficiently evaluated not reviewedunknown CGI sample GS000006909
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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