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Items: 5

  • The following terms were not found in ClinVar: leayia, multiflora.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTX2
(A236S +1 more)
Single nucleotide variant
(missense variant +1 more)
Anophthalmia-microphthalmia syndrome
GLikely pathogenic
SPRED1
(T196I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NPC1
(C479Y)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+2 more
GConflicting classifications of pathogenicity
ITGB2
(S138P +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
Indel
Syndromic microphthalmia
GPathogenic
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