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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDAN1
(L729V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1
(R295fs)
Microsatellite
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
CDAN1, LOC130056932
(L45P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
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