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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGD4
(D136fs +4 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4H
GLikely pathogenic
FGD4
(R239Q +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance