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Links from Gene

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
B3GAT3, BSCL2
+36 more
Copy number gain
not provided
GUncertain significance
CHRM1, HNRNPUL2
+21 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
SNHG1, WDR74
Copy number gain
See cases
Gconflicting data from submitters
AHNAK, ASRGL1
+47 more
Copy number loss
See cases
GLikely pathogenic
SNHG1, STX5
+1 more
Copy number gain
See cases
GLikely benign
AHNAK, ASRGL1
+110 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+95 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+105 more
Copy number gain
See cases
GPathogenic
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