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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBS
(R336C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
CBS
(G307S +1 more)
Single nucleotide variant
(missense variant)
CBS-related condition
+5 more
GPathogenic
CBS
(I278T +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GPathogenic
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