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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
ITGA6, ITGA6-AS1
+22 more
Copy number gain
See cases
GUncertain significance
ATF2, ATP5MC3
+136 more
Copy number loss
See cases
GPathogenic
RAPGEF4, RAPGEF4-AS1
(H8R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
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