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Items: 1 to 100 of 595

  • The following term was not found in ClinVar: thyrsoides.
  • Showing results for Protea thyrsoides. Your search for Protea thyrsoides retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS1
(V217G +4 more)
Single nucleotide variant
(missense variant)
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
POLG, POLGARF
(R964C)
Single nucleotide variant
(missense variant)
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+8 more
GConflicting classifications of pathogenicity
POLG, POLGARF
(A862T)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+3 more
GPathogenic/Likely pathogenic
POLG, POLGARF
(M299V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+3 more
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TF
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Duplication
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Insertion
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TF
Single nucleotide variant
Mitochondrial disease
+1 more
GPathogenic/Likely pathogenic
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+3 more
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Insertion
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic/Likely pathogenic
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
not specified
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Deletion
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic/Likely pathogenic
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TV
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic/Likely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
not specified
+12 more
GPathogenic/Likely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL1
Single nucleotide variant
Mitochondrial disease
GPathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GUncertain significance
MT-TL1
Single nucleotide variant
Mitochondrial disease
GUncertain significance
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely benign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-ND1, MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-TL1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-ND1
Single nucleotide variant
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
+1 more
GLikely pathogenic
MT-ND1
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
MT-ATP6, MT-ATP8
+20 more
Single nucleotide variant
Leigh syndrome
+2 more
GPathogenic/Likely pathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GPathogenic
MT-ND1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GLikely pathogenic
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