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Items: 12

  • The following term was not found in ClinVar: mammillaria.
  • Showing results for Mammillaria sulphurea. Your search for Mammillaria sulphurea retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(I127S)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+5 more
GPathogenic/Likely pathogenic
DPYD
(V995F)
Single nucleotide variant
(missense variant)
fluorouracil response - Other
Gdrug response
DPYD
(Q972R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DPYD
(D949V)
Single nucleotide variant
(missense variant)
fluorouracil response - Other
+3 more
Gdrug response
DPYD
(I948T)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
ETFDH
Single nucleotide variant
(splice donor variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic
ETFDH
(R517W +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ETFDH
(C531R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FXN
Indel
(inframe_indel)
Friedreich ataxia 1
GPathogenic
LOC126861242, NDUFV1
(R386H +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type
+4 more
GPathogenic/Likely pathogenic
NDUFV1, LOC126861242
(T423M +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+4 more
GPathogenic/Likely pathogenic
ISCA2
(G77S)
Single nucleotide variant
(missense variant +1 more)
Fatal multiple mitochondrial dysfunctions syndrome
+2 more
GPathogenic/Likely pathogenic
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