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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSA
(L19del)
Microsatellite
(inframe_deletion +1 more)
not specified
+2 more
GBenign
CTSA
(F173fs +1 more)
Deletion
(frameshift variant +1 more)
Combined deficiency of sialidase AND beta galactosidase
GPathogenic
CTSA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CTSA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
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