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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
ABCB1, ABCB4
+78 more
Copy number loss
See cases
GLikely pathogenic
CDK14, CFAP69
+30 more
Copy number gain
See cases
GUncertain significance
CDK14, CFAP69
+28 more
Copy number gain
See cases
GUncertain significance
CLDN12
(R4W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN12
(G17R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN12
(L122Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN12
(I179V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLDN12
(T243A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14, CFAP69
+5 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB1, ABCB4
+50 more
Copy number gain
not specified
GPathogenic
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
STEAP1, GTPBP10
+4 more
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
CACNA2D1, ERVW-1
+91 more
Deletion
not provided
GUncertain significance
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
STEAP4, TEX47
+11 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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