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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUBPL
(M1T)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 1 deficiency, nuclear type 21
+2 more
GLikely pathogenic
NUBPL
(W156C +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 21
GUncertain significance
NUBPL
(Q176* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GLikely pathogenic
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