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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059185, LOC130059186
+869 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
AARS1, ADAMTS18
+572 more
Copy number gain
See cases
GPathogenic
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
LOC126862439, LOC126862440
+1031 more
Copy number gain
See cases
GPathogenic
C16orf47, HCCAT5
+21 more
Copy number loss
See cases
GUncertain significance
ADAMTS18, ADAT1
+360 more
Copy number loss
See cases
GPathogenic
C16orf47, LOC110121436
+6 more
Copy number gain
See cases
GLikely benign
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