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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBAS
(R136G)
Single nucleotide variant
(missense variant +1 more)
Infantile liver failure syndrome 2
GLikely pathogenic
NBAS
(R405*)
Single nucleotide variant
(nonsense +1 more)
Infantile liver failure syndrome 2
+2 more
GPathogenic
NBAS
(I984S)
Single nucleotide variant
(missense variant +1 more)
Infantile liver failure syndrome 2
+1 more
GConflicting classifications of pathogenicity
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