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Items: 4

  • Showing results for Aciotis annua. Your search for Aciotis annua retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCCB
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
GPathogenic/Likely pathogenic
KCNE3, LIPT2
(T4A)
Single nucleotide variant
(missense variant)
Brugada syndrome 6
+3 more
GConflicting classifications of pathogenicity
RYR1
(E3689del +1 more)
Microsatellite
(inframe_deletion)
Malignant hypothermia
+3 more
GConflicting classifications of pathogenicity
MT-TL1
Single nucleotide variant
not specified
+12 more
GPathogenic/Likely pathogenic
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