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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
BAIAP3, BRICD5
+162 more
Copy number gain
See cases
GPathogenic
FAHD1, GFER
+40 more
Copy number gain
See cases
GPathogenic
GFER, HS3ST6
+44 more
Copy number gain
See cases
GUncertain significance
GFER, HS3ST6
+43 more
Deletion
Tuberous sclerosis 2
GPathogenic
GFER, HS3ST6
+40 more
Deletion
Tuberous sclerosis 2
GPathogenic
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