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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
LOC121175342, LOC121740678
+380 more
Copy number loss
See cases
GPathogenic
AEBP1, AMPH
+288 more
Copy number loss
See cases
GPathogenic
LOC129998373, LOC129998374
+231 more
Copy number loss
See cases
GPathogenic
SNORA5A, SNORA5B
+212 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+426 more
Copy number loss
See cases
GPathogenic
UBE2D4
(M38T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE2D4
(T71I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2D4
(I73M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2D4
(R90Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2D4
(L103V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBE2D4
(H125Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY1, AEBP1
+31 more
Deletion
not provided
GUncertain significance
ADCY1, AEBP1
+38 more
Copy number loss
not provided
GPathogenic
AEBP1, BLVRA
+17 more
Deletion
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCA13, ADCY1
+53 more
Copy number loss
not specified
GPathogenic
MRPS24, MYL7
+46 more
Copy number loss
Intracranial hemorrhage
GPathogenic
ADCY1, AEBP1
+44 more
Copy number loss
Neurodevelopmental delay
+2 more
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AEBP1, CAMK2B
+11 more
Copy number gain
not provided
GLikely benign
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
AEBP1, AMPH
+54 more
Copy number loss
See cases
GPathogenic
ZMIZ2, ADCY1
+41 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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