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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065433, NDUFAF5
(R49G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC130065433, NDUFAF5
(K52T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GLikely pathogenic