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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
ANKRD63, BMF
+47 more
Copy number gain
See cases
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Mosaic variegated aneuploidy syndrome 1
+3 more
GBenign
BUB1B, LOC130056830
Single nucleotide variant
(intron variant)
not provided
GBenign
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