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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OBSL1
(E376*)
Duplication
(nonsense)
3M syndrome 1
+1 more
GPathogenic/Likely pathogenic
OBSL1
(T425fs)
Duplication
(frameshift variant)
3M syndrome 2
+1 more
GPathogenic