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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
LOC129935084, LOC129935085
+54 more
Copy number loss
See cases
GPathogenic
DYNC1I2
(S115* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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