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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059506, LOC130059507
+447 more
Copy number loss
See cases
GPathogenic
ADAD2, ATP2C2
+211 more
Copy number loss
See cases
GPathogenic
TAF1C, DNAAF1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
LOC654780, OSGIN1
+16 more
Copy number loss
See cases
GUncertain significance
ACSF3, ADAD2
+127 more
Copy number gain
See cases
GPathogenic
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