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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993885, NDUFS4
Single nucleotide variant
(5 prime UTR variant +1 more)
NDUFS4-related disorder
GLikely benign
LOC129993885, NDUFS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GConflicting classifications of pathogenicity
NDUFS4, LOC129993885
(S5P)
Single nucleotide variant
(missense variant +1 more)
Leigh syndrome
+5 more
GConflicting classifications of pathogenicity
LOC129993885, NDUFS4
Single nucleotide variant
(synonymous variant +1 more)
NDUFS4-related disorder
GLikely benign
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