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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ISCU
(F7V)
Single nucleotide variant
(missense variant +2 more)
Hereditary myopathy with lactic acidosis due to ISCU deficiency
+1 more
GBenign
ISCU
(F7C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
ISCU
(A12V)
Single nucleotide variant
(missense variant +2 more)
Hereditary myopathy with lactic acidosis due to ISCU deficiency
+1 more
GBenign
ISCU, LOC130008688
Duplication
(intron variant)
not provided
+1 more
GBenign
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