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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
ALKBH4, ARMC10
+149 more
Copy number gain
See cases
GPathogenic
ALKBH4, ARMC10
+292 more
Copy number loss
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
POLR2J
(I116T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
POLR2J
(K112R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
POLR2J
(A90V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR2J
(P49L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR2J
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
POLR2J
(N29K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
POLR2J
(K17R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH4, FAM185A
+9 more
Copy number loss
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
ALKBH4, CUX1
+6 more
Copy number gain
not provided
GUncertain significance
ACHE, ACTL6B
+77 more
Copy number loss
See cases
GLikely pathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
CYP3A43, GJC3
+99 more
Copy number loss
not provided
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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