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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABHD12B, ARF6
+394 more
Copy number gain
See cases
GLikely pathogenic
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
ARF6, DNAAF2
+14 more
Copy number gain
not specified
GUncertain significance
NEMF, SAV1
+16 more
Copy number gain
not provided
GUncertain significance
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
ERG28, OR11G2
+635 more
Copy number gain
See cases
GPathogenic
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