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Items: 3

  • The following term was not found in ClinVar: Coryphantha.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GPathogenic
MRE11
(R572*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
NPC1
(Q991fs)
Deletion
(frameshift variant)
NPC1-related disorder
+3 more
GConflicting classifications of pathogenicity
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