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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO1
(V2266I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(V1257del +1 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
PIEZO1
(Y1448fs)
Deletion
(frameshift variant)
Lymphatic malformation 6
GLikely pathogenic
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