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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRSS56
(A30T)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 6
+1 more
GBenign
PRSS56
Single nucleotide variant
(synonymous variant)
Isolated microphthalmia 6
GBenign
C1QTNF5, MFRP
(V136M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated microphthalmia 5
+4 more
GBenign/Likely benign
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