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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBDS
(K62*)
Single nucleotide variant
(nonsense)
Intellectual disability
+8 more
GPathogenic/Likely pathogenic
Translocation
Inversion of nipple
+13 more
GUncertain significance
SBDS
Single nucleotide variant
(splice donor variant)
Splenomegaly
+11 more
GPathogenic/Likely pathogenic
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