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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FZD5
(Y470fs)
Duplication
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(S477fs)
Deletion
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(Y411C)
Single nucleotide variant
(missense variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(C277fs)
Deletion
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
(A219fs)
Indel
(frameshift variant)
Microphthalmia/coloboma 11
GPathogenic
FZD5
Deletion
(inframe_deletion)
Congenital ocular coloboma
GLikely pathogenic
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