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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHCHD10
(P80L)
Single nucleotide variant
(missense variant +1 more)
CHCHD10-related condition
+6 more
GConflicting classifications of pathogenicity
CHCHD10
(G66V)
Single nucleotide variant
(missense variant +1 more)
Lower motor neuron syndrome with late-adult onset
GPathogenic
CHCHD10
(S59L)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
+1 more
GPathogenic/Likely pathogenic
CHCHD10
(G58R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant mitochondrial myopathy with exercise intolerance
GPathogenic
CHCHD10
(P34S)
Single nucleotide variant
(missense variant +1 more)
CHCHD10-related condition
+5 more
GBenign/Likely benign
CHCHD10
(R15L)
Single nucleotide variant
(missense variant)
Autosomal dominant mitochondrial myopathy with exercise intolerance
+2 more
GPathogenic
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