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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP96, UFSP2
(H37fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy 106
GPathogenic
UFSP2
(G338R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 106
GUncertain significance
CFAP96, UFSP2
(V115E)
Single nucleotide variant
(missense variant +1 more)
Hip dysplasia, Beukes type
+9 more
GConflicting classifications of pathogenicity
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