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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
SPDYE12, SPDYE13
+330 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+317 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+285 more
Copy number gain
See cases
GLikely pathogenic
ABHD11, ABHD11-AS1
+219 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+249 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+194 more
Copy number loss
See cases
GPathogenic
APTR, CCDC146
+126 more
Deletion
Distal 7q11.23 microdeletion syndrome
GPathogenic
APTR, CCDC146
+109 more
Copy number loss
See cases
GPathogenic
CCL24, CCL26
+63 more
Copy number loss
See cases
GUncertain significance
CCL24, CCL26
+65 more
Copy number loss
See cases
GPathogenic
CCL24, CCL26
+65 more
Copy number gain
See cases
GUncertain significance
CCL24, CCL26
+63 more
Copy number loss
See cases
GUncertain significance
CCL24, CCL26
+25 more
Copy number loss
See cases
GUncertain significance
CCL24
(L11F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABHD11, ABHD11-AS1
+43 more
Copy number gain
not specified
GPathogenic
CCL24, CCL26
+3 more
Copy number gain
not provided
GUncertain significance
SRRM3, YWHAG
+9 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+10 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+11 more
Copy number loss
not provided
GLikely pathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
TBL2, TMEM120A
+50 more
Copy number loss
not provided
GPathogenic
VPS37D, CLDN4
+44 more
Copy number loss
not provided
GPathogenic
CCL24, CCL26
+9 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+11 more
Copy number gain
not provided
GUncertain significance
CCL24, CCL26
+14 more
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ABHD11, ABHD11-AS1
+44 more
Copy number loss
Williams syndrome
GPathogenic
POR, YWHAG
+11 more
Copy number loss
not provided
GLikely pathogenic
SRRM3, CCL26
+11 more
Copy number gain
not provided
GUncertain significance
STYXL1, CCL24
+12 more
Copy number gain
not provided
GUncertain significance
CACNA2D1, ERVW-1
+91 more
Deletion
not provided
GUncertain significance
CCL24, CCL26
+6 more
Copy number loss
See cases
GUncertain significance
AASS, ABCA13
+896 more
Copy number gain
See cases
GPathogenic
KLHL7, KLHL7-DT
+896 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+44 more
Copy number loss
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
GTF2IRD1, CLIP2
+22 more
Copy number loss
See cases
GLikely pathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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