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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRB2
(R633W)
Single nucleotide variant
(missense variant +1 more)
Ventriculomegaly-cystic kidney disease
GPathogenic
NPHS2
(R229Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity