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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NADK2
(I254V +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance
NADK2
(T229S +1 more)
Single nucleotide variant
(missense variant)
Progressive encephalopathy with leukodystrophy due to DECR deficiency
GUncertain significance