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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
ZNHIT1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ZNHIT1, PLOD3
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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