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Links from Gene

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACSS2, ACTL10
+51 more
Deletion
Glutathione synthetase deficiency with 5-oxoprolinuria
GPathogenic
C20orf173
(S65P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AAR2, ACSS2
+98 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+86 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+53 more
Deletion
not provided
GPathogenic
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ACSS2, ACTL10
+254 more
Copy number gain
See cases
GPathogenic
C20orf173, CEP250
+35 more
Copy number loss
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACSS2
+214 more
Copy number loss
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
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