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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC126860963, LOC126860964
+1008 more
Copy number gain
See cases
GPathogenic
ADO, ANK3
+227 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
CDK1
(L70V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CDK1
(I157V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANK3, ARID5B
+15 more
Copy number loss
not specified
GUncertain significance
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
ANK3, CDK1
+1 more
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ANK3, ARID5B
+8 more
Copy number loss
not provided
GUncertain significance
ADO, ANK3
+18 more
Copy number loss
not provided
GUncertain significance
CDK1, CABCOCO1
+11 more
Copy number loss
not provided
GUncertain significance
MTRNR2L5, TMEM26
+23 more
Copy number loss
not provided
GPathogenic
ANK3, PCDH15
+17 more
Copy number loss
not provided
GPathogenic
TIMM23, C10orf71
+50 more
Copy number loss
not provided
GPathogenic
ANK3, BICC1
+10 more
Copy number gain
not provided
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ANK3, ARID5B
+16 more
Copy number loss
See cases
GLikely pathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
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