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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064074, NDUFA13
(K5N)
Single nucleotide variant
(missense variant)
Hurthle cell carcinoma of thyroid
GPathogenic
LOC125371495, NDUFA13
(L36P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GPathogenic
LOC125371495, NDUFA13
(R57H)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 28
GLikely pathogenic
NDUFA13
(F65fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy
+5 more
GPathogenic
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