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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASAH1
Single nucleotide variant
(intron variant)
Farber lipogranulomatosis
GPathogenic
ASAH1
(G235R +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ASAH1
Deletion
(splice acceptor variant +2 more)
Farber lipogranulomatosis
GPathogenic
ASAH1
(T42M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
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