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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
ABHD14A, ABHD14A-ACY1
+197 more
Copy number loss
See cases
GLikely pathogenic
ABHD14A, ABHD14B
+86 more
Copy number loss
not specified
GPathogenic
ALAS1, BAP1
+28 more
Deletion
RFT1-congenital disorder of glycosylation
GUncertain significance
ACY1, ALAS1
+35 more
Deletion
not provided
GUncertain significance
DCP1A, ITIH1
+10 more
Copy number gain
not provided
GUncertain significance
DCP1A, ITIH1
+10 more
Copy number gain
not provided
GUncertain significance
ABHD14A, ABHD14B
+48 more
Copy number gain
not provided
GUncertain significance
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD6, ACOX2
+66 more
Copy number loss
See cases
GPathogenic
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