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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
Deletion
(inframe_indel)
Vascular malformation
GPathogenic
TEK
(Y749H +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TEK
(L766F +4 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+1 more
GPathogenic
TEK
(R918H +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TEK
(E1065* +4 more)
Single nucleotide variant
(nonsense)
Vascular malformation
+2 more
GPathogenic/Likely pathogenic
MAP2K1
Deletion
(inframe_deletion)
Vascular malformation
+1 more
GPathogenic/Likely pathogenic
IDH2
(R120S +2 more)
Single nucleotide variant
(missense variant)
Vascular malformation
GPathogenic
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