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Links from Gene

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEPDC5, LINC02558
+10 more
Deletion
Epilepsy, familial focal, with variable foci 1
GPathogenic, low penetrance
YWHAH
(T70I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEPDC5, LINC02558
+14 more
Copy number loss
Epilepsy syndrome
GPathogenic
DEPDC5, YWHAH
+1 more
Copy number loss
not provided
GPathogenic
YWHAH, YWHAH-AS1
(R4Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YWHAH
(T234M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YWHAH
(D203A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
YWHAH
(R227Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP1B1, ASCC2
+71 more
Duplication
not provided
GUncertain significance
BPIFC, C22orf42
+13 more
Duplication
Muscular dystrophy-dystroglycanopathy type B6
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
C22orf42, DEPDC5
+10 more
Copy number gain
not provided
GUncertain significance
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ADORA2A, AP1B1
+129 more
Copy number gain
not provided
GPathogenic
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
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
AP1B1, ASCC2
+307 more
Copy number gain
See cases
GPathogenic
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