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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A13
(R605* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+4 more
GPathogenic/Likely pathogenic
SLC25A13
(Y600* +1 more)
Duplication
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+2 more
GPathogenic
SLC25A13
(A555fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
SLC25A13
Single nucleotide variant
(splice donor variant)
Citrin deficiency
+2 more
GPathogenic
SLC25A13
Single nucleotide variant
(splice donor variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
+3 more
GPathogenic
SLC25A13
(R360* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+2 more
GPathogenic/Likely pathogenic
SLC25A13
(M285fs)
Deletion
(frameshift variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+5 more
GPathogenic
SLC25A13
(S225*)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+3 more
GPathogenic
SLC25A13
Single nucleotide variant
(intron variant)
SLC25A13-related condition
+5 more
GPathogenic/Likely pathogenic
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