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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FEZ1
Single nucleotide variant
(intron variant)
not provided
GBenign
FEZ1
(E358Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
FEZ1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FEZ1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACRV1, CCDC15
+56 more
Deletion
not provided
GUncertain significance
CDON, ACRV1
+56 more
Duplication
Holoprosencephaly 11
GUncertain significance
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