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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRP54
(T117del +1 more)
Microsatellite
(inframe_deletion)
Neutropenia, severe congenital, 8, autosomal dominant
+1 more
GPathogenic/Likely pathogenic
SRP54
(T115A +1 more)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 8, autosomal dominant
+1 more
GPathogenic
SRP54
(G226E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
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