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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057730, LOC132090332
+175 more
Copy number loss
See cases
GPathogenic
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GBenign
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GBenign
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GLikely benign
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
Developmental cataract
+1 more
GUncertain significance
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
ANKRD34C-AS1, MIR184
Single nucleotide variant
(non-coding transcript variant)
EDICT syndrome
GPathogenic
ANKRD34C-AS1, MIR184
Single nucleotide variant
not provided
GBenign
MIR184, ANKRD34C-AS1
Single nucleotide variant
not provided
GBenign
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