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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GPathogenic/Likely pathogenic
BLM
(Q1127* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bloom syndrome
GPathogenic