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Items: 5

  • The following term was not found in ClinVar: ipomoea.
  • Showing results for Ipomoea cavalcantei. Your search for Ipomoea cavalcantei retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT122
(A1004P +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT80, TRIM59-IFT80
(G241R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Jeune thoracic dystrophy
+1 more
GPathogenic/Likely pathogenic
IFT80, TRIM59-IFT80
(G241R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Asphyxiating thoracic dystrophy 2
GPathogenic
FRAS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GDAP1
(P119T +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic/Likely pathogenic
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