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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ISCU, LOC130008688
(E27D)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ISCU, LOC130008688
(P31L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ISCU, LOC130008688
(L34F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ISCU, LOC130008688
Duplication
(intron variant)
Hereditary myopathy with lactic acidosis due to ISCU deficiency
+1 more
GBenign
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