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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALMS1
(E21fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GConflicting classifications of pathogenicity
ALMS1
(T1914fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GLikely pathogenic
ALMS1
(T3769fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
(Y4152* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GLikely pathogenic
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