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Items: 4

  • The following term was not found in ClinVar: pseudorhabdosynochus.
  • Showing results for Pseudorhabdosynochus quadratus. Your search for Pseudorhabdosynochus quadratus retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RHO
(R135L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 4
+1 more
GPathogenic
CFI
(G119R)
Single nucleotide variant
(missense variant +2 more)
Factor I deficiency
+3 more
GConflicting classifications of pathogenicity
LOC126860802, ZMYND11
(W405S +15 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 30
GLikely pathogenic
BRCA1
(R1443* +58 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
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