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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1L
(S39N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
DNM1L
(G198S +2 more)
Single nucleotide variant
(missense variant)
DNM1L-related disorder
+1 more
GLikely pathogenic