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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO2
(D1065H +1 more)
Single nucleotide variant
(missense variant)
Marden-Walker syndrome
GUncertain significance
PIEZO2
Single nucleotide variant
(splice acceptor variant)
Marden-Walker syndrome
GLikely pathogenic
PIEZO2
(R202L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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