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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
ATP1A2, ATP1A4
+27 more
Copy number gain
not provided
GUncertain significance
TAGLN2, TOMM40L
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
ATP1A2, COPA
+7 more
Duplication
Familial hemiplegic migraine
+1 more
GUncertain significance
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
ATP1A2, ATP1A4
+31 more
Copy number gain
not provided
GUncertain significance
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
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