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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFC2, NDUFC2-KCTD14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
NDUFC2, NDUFC2-KCTD14
(R64C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFC2, NDUFC2-KCTD14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
NDUFC2, NDUFC2-KCTD14
(H93fs +1 more)
Deletion
(frameshift variant +1 more)
Mitochondrial disease
GPathogenic
NDUFC2, NDUFC2-KCTD14
(H58L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial disease
GPathogenic
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