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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
JRK
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
JRK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
JRK
(T30M)
Single nucleotide variant
(missense variant)
not provided
GBenign
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