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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALMS1
(R270* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GPathogenic
ALMS1
(Y3268* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GPathogenic/Likely pathogenic