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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUBPL
(L104P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
+3 more
GPathogenic/Likely pathogenic
NUBPL
(D105Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 21
+1 more
GConflicting classifications of pathogenicity
NUBPL
(M117I +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 21
GPathogenic
NUBPL
(L193F +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 21
GPathogenic
NUBPL
Insertion
(nonsense +1 more)
Mitochondrial complex 1 deficiency, nuclear type 21
GPathogenic
NUBPL
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic/Likely pathogenic
NUBPL
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NUBPL
(G56R)
Single nucleotide variant
(intron variant +2 more)
Mitochondrial complex I deficiency
GPathogenic
NUBPL, DTD2
+2 more
Complex
Parkinson disease, late-onset
GPathogenic
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