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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
ERICH2, ERICH2-DT
+27 more
Copy number loss
See cases
GPathogenic
MYO3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LOC129935084, LOC129935085
+54 more
Copy number loss
See cases
GPathogenic
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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