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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130009585, UFM1
Deletion
Leukodystrophy, hypomyelinating, 14
+1 more
GPathogenic/Likely pathogenic
UFM1
Single nucleotide variant
(intron variant)
Leukodystrophy, hypomyelinating, 14
+1 more
GBenign/Likely benign