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Items: 2

  • The following terms were not found in ClinVar: Octadecyl, prolinate.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(R245H +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
SRD5A2
(A28fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
+1 more
GPathogenic