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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130062145, NDUFV2
(A6G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFV2-AS1, NDUFV2
(M185V)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 7
+1 more
GUncertain significance