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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO5B
(G435R)
Single nucleotide variant
(missense variant)
Congenital microvillous atrophy
+1 more
GConflicting classifications of pathogenicity
MYO5B
(G316V)
Single nucleotide variant
(missense variant)
Congenital microvillous atrophy
GLikely pathogenic