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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO1
Single nucleotide variant
(splice donor variant)
Lymphatic malformation 6
GLikely pathogenic
HSALR1, PIEZO1
(Q1052* +1 more)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GLikely pathogenic