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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYMK
(V179I)
Single nucleotide variant
(missense variant)
Congenital nonprogressive myopathy with Moebius and Robin sequences
GUncertain significance
MYMK
(P91T)
Single nucleotide variant
(missense variant)
Congenital nonprogressive myopathy with Moebius and Robin sequences
+2 more
GPathogenic/Likely pathogenic