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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP5F1D
(E117*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
GUncertain significance
ATP5F1D
(R9C)
Single nucleotide variant
(missense variant)
ATP5F1D-related condition
+2 more
GConflicting classifications of pathogenicity
ATP5F1D
(V106G)
Single nucleotide variant
(missense variant)
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
+1 more
GPathogenic
ATP5F1D
(P82L)
Single nucleotide variant
(missense variant)
Decreased activity of mitochondrial ATP synthase complex
+1 more
GPathogenic
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