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Links from OMIM

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEAF1
(R254S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DEAF1
(R224W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, autosomal dominant 24
+1 more
GPathogenic/Likely pathogenic
DEAF1
(Q264P +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 24
GUncertain significance
DEAF1
(I228S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, autosomal dominant 24
GPathogenic
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