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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL40
(N345S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
KLHL40
(C617R)
Single nucleotide variant
(missense variant)
Nemaline myopathy 8
+2 more
GBenign