| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105378448, LOC107195252
+245 more | Copy number loss | See cases | |
| | LOC130004555, LOC130004556
+375 more | Copy number loss | See cases | |
| | C10orf131, CC2D2B
+24 more | Copy number loss | See cases | |
| | ENTPD1, ENTPD1-AS1
+1 more (E18K) | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ENTPD1, LOC130004411
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
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