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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJC2
(H17fs)
Duplication
(frameshift variant)
Hypomyelinating leukodystrophy 2
GLikely pathogenic
GJC2
(T21I)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 2
GUncertain significance