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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO1
(I2270T)
Single nucleotide variant
(missense variant)
Non-immune hydrops fetalis
+1 more
GUncertain significance
PIEZO1
(P1906fs)
Deletion
(frameshift variant)
Non-immune hydrops fetalis
GLikely pathogenic
HSALR1, PIEZO1
(M870I)
Single nucleotide variant
(missense variant)
Non-immune hydrops fetalis
+1 more
GConflicting classifications of pathogenicity
HSALR1, PIEZO1
(V598M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HSALR1, PIEZO1
(Q461*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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