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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
AP1B1, ASCC2
+260 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+307 more
Copy number gain
See cases
GPathogenic
CCDC157, DUSP18
+54 more
Copy number gain
See cases
GUncertain significance
DUSP18, SLC35E4
(L188P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(R183C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(Y178C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(H165Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(T163A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(R142Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(R138W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(L101W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(R99H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(L79V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(R78C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(S74F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(Q68E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(M67V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DUSP18, SLC35E4
(N51S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(Q45R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(R13W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(C6Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DUSP18, SLC35E4
(S5L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP1B1, ASCC2
+71 more
Duplication
not provided
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
NEFH, PIK3IP1
+42 more
Inversion
Anaplastic ependymoma
GLikely pathogenic
ADORA2A, AP1B1
+129 more
Copy number gain
not provided
GPathogenic
GAL3ST1, DUSP18
+5 more
Copy number gain
not provided
GUncertain significance
DEPDC5, DRG1
+70 more
Copy number gain
See cases
GLikely pathogenic
ADORA2A, AP1B1
+131 more
Copy number gain
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
DUSP18, OSBP2
+1 more
Copy number gain
See cases
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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