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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALMS1
(R579fs +1 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
ALMS1
(G987fs +1 more)
Insertion
(frameshift variant)
Retinal dystrophy
GLikely pathogenic