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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLM
(Q548* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BLM
(L1151fs +2 more)
Duplication
(frameshift variant)
Bloom syndrome
GLikely pathogenic