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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO1
(R1915G)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
PIEZO1
(Y1763*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PIEZO1
(Q1033P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSALR1, PIEZO1
(Y460* +1 more)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
HSALR1, PIEZO1
(R801C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PIEZO1
(G7R)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
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