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Links from Gene

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACSS2, ACTL10
+51 more
Deletion
Glutathione synthetase deficiency with 5-oxoprolinuria
GPathogenic
MAP1LC3A
(F121C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP1LC3A
(T76M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP1LC3A
(V20I +1 more)
Single nucleotide variant
(missense variant)
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
+71 more
Copy number gain
not specified
GPathogenic
ACSS2, ACTL10
+53 more
Deletion
not provided
GPathogenic
ABHD12, ACSS1
+117 more
Copy number gain
not provided
GLikely pathogenic
PIGU, E2F1
+16 more
Copy number gain
not provided
GUncertain significance
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
CBFA2T2, CHMP4B
+17 more
Deletion
Long QT syndrome
GUncertain significance
ACSS2, ACTL10
+25 more
Deletion
Long QT syndrome
GUncertain significance
ITCH, AHCY
+7 more
Copy number gain
not provided
GLikely benign
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
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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