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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBX2
(S111F)
Single nucleotide variant
(missense variant)
46,XY sex reversal 5
GLikely benign
CBX2
Deletion
(intron variant)
46,XY sex reversal 5
GUncertain significance
CBX2
(C89fs)
Deletion
(frameshift variant)
46,XY sex reversal 5
GUncertain significance
CBX2
(R443P)
Single nucleotide variant
(missense variant)
46,XY sex reversal 5
GPathogenic
CBX2
(P98L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 5
GPathogenic
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